#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
AAAS	8086	genome.wustl.edu	37	12	53702789	53702789	+	Silent	SNP	C	C	T	rs377673792		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:53702789C>T	ENST00000209873.4	-	10	1116	c.951G>A	c.(949-951)caG>caA	p.Q317Q	AAAS_ENST00000549983.1_5'Flank|AAAS_ENST00000394384.3_Silent_p.Q284Q|AAAS_ENST00000550286.1_Silent_p.Q193Q	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	317					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AAGTCCACATCTGGGCCTCCC	0.532																																																	0													149.0	150.0	149.0					12																	53702789		2203	4300	6503	SO:0001819	synonymous_variant	8086			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.951G>A	12.37:g.53702789C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JB47|Q9NWI6|Q9UG19	Silent	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q317	ENST00000209873.4	37	c.951	CCDS8856.1	12																																																																																			AAAS	-	pfscan_WD40_repeat_dom		0.532	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAAS	HGNC	protein_coding	OTTHUMT00000405632.1	C			53702789	-1	no_errors	ENST00000209873	ensembl	human	known	70_37	silent	SNP	1.000	T
AAMP	14	genome.wustl.edu	37	2	219134716	219134716	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:219134716C>G	ENST00000248450.4	-	1	264	c.94G>C	c.(94-96)Gaa>Caa	p.E32Q	AAMP_ENST00000444053.1_Missense_Mutation_p.E32Q|PNKD_ENST00000248451.3_5'Flank|PNKD_ENST00000273077.4_5'Flank|AAMP_ENST00000420660.1_5'Flank			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	32					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGATCAAGTTCTACCACCTCG	0.622																																																	0													125.0	133.0	130.0					2																	219134716		2203	4300	6503	SO:0001583	missense	14			AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"""WD repeat domain containing"""	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.94G>C	2.37:g.219134716C>G	ENSP00000248450:p.Glu32Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WUJ9|Q96H92	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E32Q	ENST00000248450.4	37	c.94	CCDS33378.1	2	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274649	0.59649	.	.	ENSG00000127837	ENST00000248450;ENST00000444053	T;T	0.58060	0.45;0.36	5.05	5.05	0.67936	.	0.046835	0.85682	D	0.000000	T	0.45054	0.1323	L	0.43923	1.385	0.80722	D	1	P;P	0.41524	0.753;0.753	B;B	0.39068	0.289;0.289	T	0.31696	-0.9934	10	0.22109	T	0.4	-19.7694	15.2759	0.73742	0.0:1.0:0.0:0.0	.	32;32	C9JEH3;Q13685	.;AAMP_HUMAN	Q	32	ENSP00000248450:E32Q;ENSP00000403343:E32Q	ENSP00000248450:E32Q	E	-	1	0	AAMP	218842960	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.006000	0.63978	2.624000	0.88883	0.655000	0.94253	GAA	AAMP	-	NULL		0.622	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AAMP	HGNC	protein_coding	OTTHUMT00000338756.1	C	NM_001087		219134716	-1	no_errors	ENST00000248450	ensembl	human	known	70_37	missense	SNP	1.000	G
ABCA10	10349	genome.wustl.edu	37	17	67171598	67171598	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:67171598G>A	ENST00000269081.4	-	24	3735	c.2826C>T	c.(2824-2826)atC>atT	p.I942I	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	942					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CGCAGTTTGTGATCAACAACA	0.368																																																	0													115.0	104.0	108.0					17																	67171598		2203	4300	6503	SO:0001819	synonymous_variant	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2826C>T	17.37:g.67171598G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I942	ENST00000269081.4	37	c.2826	CCDS11684.1	17																																																																																			ABCA10	-	NULL		0.368	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	G	NM_080282		67171598	-1	no_errors	ENST00000269081	ensembl	human	known	70_37	silent	SNP	0.001	A
ABCA10	10349	genome.wustl.edu	37	17	67186575	67186575	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:67186575C>T	ENST00000269081.4	-	19	2964	c.2055G>A	c.(2053-2055)agG>agA	p.R685R	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	685					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CAGCATAATTCCTTATGCCCT	0.333																																																	0													99.0	94.0	96.0					17																	67186575		2203	4300	6503	SO:0001819	synonymous_variant	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2055G>A	17.37:g.67186575C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R685	ENST00000269081.4	37	c.2055	CCDS11684.1	17																																																																																			ABCA10	-	NULL		0.333	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	C	NM_080282		67186575	-1	no_errors	ENST00000269081	ensembl	human	known	70_37	silent	SNP	0.007	T
AATK	9625	genome.wustl.edu	37	17	79094733	79094733	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:79094733G>A	ENST00000326724.4	-	11	3027	c.3003C>T	c.(3001-3003)ctC>ctT	p.L1001L	AATK_ENST00000417379.1_Silent_p.L898L	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1001					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCTCAGCCTCGAGGTCTGAGA	0.687																																																	0													18.0	21.0	20.0					17																	79094733		1873	4099	5972	SO:0001819	synonymous_variant	9625			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3003C>T	17.37:g.79094733G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O75136|Q6ZN31|Q86X28	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R878*	ENST00000326724.4	37	c.2632	CCDS45807.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.402281|4.402281	0.83230|0.83230	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000374792|ENST00000417379	.|.	.|.	.|.	5.2|5.2	1.65|1.65	0.23941|0.23941	.|.	.|.	.|.	.|.	.|.	.|T	.|0.46678	.|0.1405	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.25537	.|-1.0129	.|4	0.02654|.	T|.	1|.	.|.	4.3068|4.3068	0.10951|0.10951	0.2223:0.4147:0.2853:0.0777|0.2223:0.4147:0.2853:0.0777	.|.	.|.	.|.	.|.	X|L	878|954	.|.	ENSP00000363924:R878X|.	R|S	-|-	1|2	2|0	AATK|AATK	76709328|76709328	0.945000|0.945000	0.32115|0.32115	0.985000|0.985000	0.45067|0.45067	0.061000|0.061000	0.15899|0.15899	0.065000|0.065000	0.14466|0.14466	0.201000|0.201000	0.20466|0.20466	-1.411000|-1.411000	0.01122|0.01122	CGA|TCG	AATK	-	NULL		0.687	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	G	NM_004920		79094733	-1	no_errors	ENST00000374792	ensembl	human	known	70_37	nonsense	SNP	0.992	A
ABCA12	26154	genome.wustl.edu	37	2	215875124	215875124	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:215875124C>G	ENST00000272895.7	-	18	2622	c.2403G>C	c.(2401-2403)ttG>ttC	p.L801F	ABCA12_ENST00000389661.4_Missense_Mutation_p.L483F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	801					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACATAGGTTTCAAGAAAGCCC	0.368																																					Ovarian(66;664 1488 5121 34295)												0													115.0	110.0	112.0					2																	215875124		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2403G>C	2.37:g.215875124C>G	ENSP00000272895:p.Leu801Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L801F	ENST00000272895.7	37	c.2403	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525593	0.64860	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.11277	2.79;2.79	5.38	4.5	0.54988	.	0.117951	0.38436	N	0.001699	T	0.29256	0.0728	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.01839	-1.1263	10	0.87932	D	0	.	9.3854	0.38340	0.0:0.792:0.0:0.208	.	801;483	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	F	801;483	ENSP00000272895:L801F;ENSP00000374312:L483F	ENSP00000272895:L801F	L	-	3	2	ABCA12	215583369	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.094000	0.30951	1.391000	0.46566	0.591000	0.81541	TTG	ABCA12	-	NULL		0.368	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	C	NM_173076		215875124	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	missense	SNP	1.000	G
ABCA12	26154	genome.wustl.edu	37	2	215876785	215876785	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:215876785G>A	ENST00000272895.7	-	16	2250	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	ABCA12_ENST00000389661.4_Silent_p.L359L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	677					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCATCTGATTGAGAATCTCTT	0.398																																					Ovarian(66;664 1488 5121 34295)												0													231.0	222.0	225.0					2																	215876785		2203	4300	6503	SO:0001819	synonymous_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2031C>T	2.37:g.215876785G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L677	ENST00000272895.7	37	c.2031	CCDS33372.1	2																																																																																			ABCA12	-	NULL		0.398	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	G	NM_173076		215876785	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	silent	SNP	1.000	A
ABCA12	26154	genome.wustl.edu	37	2	215884415	215884415	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:215884415C>T	ENST00000272895.7	-	12	1612	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	AC072062.3_ENST00000437897.3_RNA|AC072062.3_ENST00000602182.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.E147K|AC072062.3_ENST00000419251.1_RNA|AC072062.3_ENST00000595058.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	465					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCACTTTCTTCACACAGGCTC	0.438																																					Ovarian(66;664 1488 5121 34295)												0													65.0	64.0	64.0					2																	215884415		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1393G>A	2.37:g.215884415C>T	ENSP00000272895:p.Glu465Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E465K	ENST00000272895.7	37	c.1393	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026679	0.35797	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.88664	-2.41;-2.39	6.0	5.12	0.69794	.	0.160872	0.43919	N	0.000508	T	0.81866	0.4913	L	0.27053	0.805	0.80722	D	1	P;P	0.36027	0.533;0.494	B;B	0.32465	0.122;0.146	T	0.82731	-0.0312	10	0.66056	D	0.02	.	13.0949	0.59187	0.0:0.9256:0.0:0.0744	.	465;147	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	K	465;147	ENSP00000272895:E465K;ENSP00000374312:E147K	ENSP00000272895:E465K	E	-	1	0	ABCA12	215592660	1.000000	0.71417	1.000000	0.80357	0.219000	0.24729	2.354000	0.44098	1.546000	0.49388	0.637000	0.83480	GAA	ABCA12	-	NULL		0.438	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	C	NM_173076		215884415	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	missense	SNP	1.000	T
ABCA13	154664	genome.wustl.edu	37	7	48315793	48315793	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:48315793G>C	ENST00000435803.1	+	17	6554	c.6530G>C	c.(6529-6531)aGa>aCa	p.R2177T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2177					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AATATATCTAGAGCAGGCAAT	0.353																																																	0													29.0	27.0	28.0					7																	48315793		1801	4063	5864	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6530G>C	7.37:g.48315793G>C	ENSP00000411096:p.Arg2177Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R2177T	ENST00000435803.1	37	c.6530	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	3.722	-0.057424	0.07317	.	.	ENSG00000179869	ENST00000435803	T	0.22945	1.93	4.99	2.1	0.27182	.	0.227351	0.30901	N	0.008646	T	0.21921	0.0528	M	0.66939	2.045	0.09310	N	1	B	0.25235	0.121	B	0.21546	0.035	T	0.18777	-1.0326	9	.	.	.	.	4.5558	0.12136	0.2821:0.1632:0.5547:0.0	.	2177	Q86UQ4	ABCAD_HUMAN	T	2177	ENSP00000411096:R2177T	.	R	+	2	0	ABCA13	48286339	0.923000	0.31300	0.000000	0.03702	0.072000	0.16883	0.536000	0.23129	0.206000	0.20587	0.484000	0.47621	AGA	ABCA13	-	NULL		0.353	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	G	NM_152701		48315793	+1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	0.001	C
ABCA13	154664	genome.wustl.edu	37	7	48431563	48431563	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:48431563C>G	ENST00000435803.1	+	38	11724	c.11700C>G	c.(11698-11700)atC>atG	p.I3900M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3900	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAACCATCATCATCAATGGCA	0.532																																																	0													89.0	88.0	88.0					7																	48431563		1995	4168	6163	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11700C>G	7.37:g.48431563C>G	ENSP00000411096:p.Ile3900Met	Somatic		WXS	Illumina HiSeq	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I3900M	ENST00000435803.1	37	c.11700	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380534	0.42207	.	.	ENSG00000179869	ENST00000435803	D	0.93859	-3.3	5.17	-0.854	0.10705	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.837651	0.09891	U	0.742360	D	0.88880	0.6557	N	0.17278	0.47	0.09310	N	1	P;P	0.51653	0.865;0.947	P;P	0.55222	0.588;0.771	T	0.79577	-0.1746	10	0.62326	D	0.03	.	1.9005	0.03267	0.1375:0.3826:0.2715:0.2084	.	1602;3900	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	M	3900	ENSP00000411096:I3900M	ENSP00000411096:I3900M	I	+	3	3	ABCA13	48402109	0.000000	0.05858	0.000000	0.03702	0.694000	0.40290	0.183000	0.16919	-0.065000	0.13021	0.467000	0.42956	ATC	ABCA13	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.532	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48431563	+1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	0.001	G
ABCA4	24	genome.wustl.edu	37	1	94467069	94467069	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:94467069C>T	ENST00000370225.3	-	45	6369				ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000536513.1_Intron|ABCA4_ENST00000535881.1_Intron	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4						phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGGCTCAGCTCAGGAGCCTTT	0.637																																																	0																																										SO:0001627	intron_variant	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6282+344G>A	1.37:g.94467069C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O15112|O60438|O60915|Q0QD48|Q4LE31	RNA	SNP	-	NULL	ENST00000370225.3	37	NULL	CCDS747.1	1																																																																																			ABCA4	-	-		0.637	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	C	NM_000350		94467069	-1	no_errors	ENST00000465352	ensembl	human	known	70_37	rna	SNP	0.000	T
ABCA7	10347	genome.wustl.edu	37	19	1042338	1042338	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:1042338C>T	ENST00000263094.6	+	6	671	c.440C>T	c.(439-441)tCt>tTt	p.S147F	ABCA7_ENST00000435683.2_5'Flank|ABCA7_ENST00000433129.1_Missense_Mutation_p.S147F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	147					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAAGCAGTCTCCACTGGAA	0.672																																																	0													77.0	73.0	74.0					19																	1042338		2203	4300	6503	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.440C>T	19.37:g.1042338C>T	ENSP00000263094:p.Ser147Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S147F	ENST00000263094.6	37	c.440	CCDS12055.1	19	.	.	.	.	.	.	.	.	.	.	C	7.636	0.679942	0.14907	.	.	ENSG00000064687	ENST00000263094;ENST00000524850;ENST00000433129	D;D;D	0.98649	-2.16;-5.05;-2.16	3.03	-3.43	0.04810	.	.	.	.	.	D	0.92622	0.7656	N	0.08118	0	0.09310	N	1	B;B	0.29508	0.246;0.092	B;B	0.24269	0.052;0.011	D	0.87983	0.2744	9	0.56958	D	0.05	.	3.4854	0.07618	0.1868:0.328:0.0:0.4853	.	147;147	B4DVJ5;Q8IZY2	.;ABCA7_HUMAN	F	147	ENSP00000263094:S147F;ENSP00000431473:S147F;ENSP00000414062:S147F	ENSP00000263094:S147F	S	+	2	0	ABCA7	993338	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.871000	0.04223	-0.624000	0.05611	0.511000	0.50034	TCT	ABCA7	-	NULL		0.672	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	C	NM_019112		1042338	+1	no_errors	ENST00000263094	ensembl	human	known	70_37	missense	SNP	0.000	T
ABCA8	10351	genome.wustl.edu	37	17	66871433	66871433	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:66871433C>T	ENST00000269080.2	-	35	4616	c.4479G>A	c.(4477-4479)ctG>ctA	p.L1493L	ABCA8_ENST00000430352.2_Silent_p.L1533L|ABCA8_ENST00000586539.1_Silent_p.L1533L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1493					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGAAAAGCCTCAGGATCTCTG	0.473																																																	0													92.0	83.0	86.0					17																	66871433		2203	4300	6503	SO:0001819	synonymous_variant	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4479G>A	17.37:g.66871433C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3U3|C9JQE6|Q86WW0	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L1533	ENST00000269080.2	37	c.4599	CCDS11680.1	17																																																																																			ABCA8	-	NULL		0.473	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	C	NM_007168		66871433	-1	no_errors	ENST00000430352	ensembl	human	known	70_37	silent	SNP	0.860	T
ABCA8	10351	genome.wustl.edu	37	17	66914283	66914283	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:66914283G>C	ENST00000269080.2	-	14	1969	c.1832C>G	c.(1831-1833)tCa>tGa	p.S611*	ABCA8_ENST00000430352.2_Nonsense_Mutation_p.S651*|ABCA8_ENST00000586539.1_Nonsense_Mutation_p.S651*	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	611	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGGTGTCTTGAAAAGGGATC	0.453																																																	0													170.0	137.0	148.0					17																	66914283		2203	4300	6503	SO:0001587	stop_gained	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1832C>G	17.37:g.66914283G>C	ENSP00000269080:p.Ser611*	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3U3|C9JQE6|Q86WW0	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S651*	ENST00000269080.2	37	c.1952	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	G	39	7.499582	0.98322	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	.	.	.	4.26	4.26	0.50523	.	0.000000	0.40144	N	0.001169	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1975	0.82042	0.0:0.0:1.0:0.0	.	.	.	.	X	611;651;590	.	ENSP00000269080:S611X	S	-	2	0	ABCA8	64425878	1.000000	0.71417	0.996000	0.52242	0.447000	0.32167	9.117000	0.94347	2.369000	0.80426	0.643000	0.83706	TCA	ABCA8	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.453	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	G	NM_007168		66914283	-1	no_errors	ENST00000430352	ensembl	human	known	70_37	nonsense	SNP	1.000	C
ABCA9	10350	genome.wustl.edu	37	17	67014661	67014661	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:67014661G>C	ENST00000340001.4	-	20	2871	c.2660C>G	c.(2659-2661)tCa>tGa	p.S887*	ABCA9_ENST00000453985.2_Nonsense_Mutation_p.S887*|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Nonsense_Mutation_p.S887*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	887					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTTCTGATATGACTCGTAGAA	0.368																																																	0													224.0	230.0	228.0					17																	67014661		2203	4300	6503	SO:0001587	stop_gained	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2660C>G	17.37:g.67014661G>C	ENSP00000342216:p.Ser887*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S887*	ENST00000340001.4	37	c.2660	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.317316	0.97467	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	.	.	.	4.97	2.61	0.31194	.	1.225050	0.06465	U	0.730103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	7.8237	0.29303	0.8201:0.0:0.1799:0.0	.	.	.	.	X	887;870;887;882	.	ENSP00000342216:S887X	S	-	2	0	ABCA9	64526256	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	1.548000	0.36201	0.326000	0.23384	-0.290000	0.09829	TCA	ABCA9	-	NULL		0.368	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	G	NM_172386		67014661	-1	no_errors	ENST00000340001	ensembl	human	known	70_37	nonsense	SNP	0.001	C
ABCB5	340273	genome.wustl.edu	37	7	20782555	20782555	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:20782555G>A	ENST00000404938.2	+	25	3732	c.3080G>A	c.(3079-3081)cGc>cAc	p.R1027H	ABCB5_ENST00000258738.6_Missense_Mutation_p.R582H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1027	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TATCCATGTCGCCCAGATGTT	0.468																																																	0													142.0	134.0	137.0					7																	20782555		2203	4300	6503	SO:0001583	missense	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3080G>A	7.37:g.20782555G>A	ENSP00000384881:p.Arg1027His	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.R582H	ENST00000404938.2	37	c.1745	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627434	0.87560	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.90788	-2.73;-2.73	4.96	4.06	0.47325	ABC transporter-like (1);	0.000000	0.52532	D	0.000069	D	0.91382	0.7281	L	0.28694	0.88	0.51767	D	0.999932	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	D	0.91792	0.5444	10	0.87932	D	0	.	12.7195	0.57134	0.0833:0.0:0.9167:0.0	.	1027;582	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	H	1027;582	ENSP00000384881:R1027H;ENSP00000258738:R582H	ENSP00000258738:R582H	R	+	2	0	ABCB5	20749080	0.997000	0.39634	0.998000	0.56505	0.940000	0.58332	6.253000	0.72453	2.575000	0.86900	0.650000	0.86243	CGC	ABCB5	-	pfscan_ABC_transporter-like		0.468	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	G	NM_178559		20782555	+1	no_errors	ENST00000258738	ensembl	human	known	70_37	missense	SNP	0.998	A
ABCC10	89845	genome.wustl.edu	37	6	43400097	43400097	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:43400097C>G	ENST00000372530.4	+	3	594	c.379C>G	c.(379-381)Cat>Gat	p.H127D	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.H84D	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	127					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	ACATTCCCCTCATGGCCACTC	0.652																																																	0													60.0	58.0	58.0					6																	43400097		2203	4300	6503	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.379C>G	6.37:g.43400097C>G	ENSP00000361608:p.His127Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.H127D	ENST00000372530.4	37	c.379	CCDS56430.1	6	.	.	.	.	.	.	.	.	.	.	C	2.961	-0.214688	0.06101	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	T;T	0.41758	0.99;0.99	5.81	1.89	0.25635	.	0.552015	0.20280	N	0.095464	T	0.08846	0.0219	N	0.24115	0.695	0.09310	N	1	B;B	0.26258	0.145;0.09	B;B	0.23716	0.048;0.021	T	0.16630	-1.0396	10	0.30854	T	0.27	-16.1396	3.0208	0.06075	0.1147:0.5129:0.1119:0.2605	.	84;127	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	D	127;84	ENSP00000361608:H127D;ENSP00000244533:H84D	ENSP00000244533:H84D	H	+	1	0	ABCC10	43508075	0.000000	0.05858	0.096000	0.21009	0.236000	0.25371	-0.335000	0.07873	0.817000	0.34445	0.462000	0.41574	CAT	ABCC10	-	NULL		0.652	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	C	NM_033450		43400097	+1	no_errors	ENST00000372530	ensembl	human	known	70_37	missense	SNP	0.000	G
ABCC12	94160	genome.wustl.edu	37	16	48172185	48172185	+	Silent	SNP	C	C	T	rs58567530	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:48172185C>T	ENST00000311303.3	-	6	1278	c.933G>A	c.(931-933)ctG>ctA	p.L311L	ABCC12_ENST00000416054.1_Silent_p.L311L|ABCC12_ENST00000448542.1_Silent_p.L311L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	311	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ACATTTTGATCAGCCTGATGC	0.423																																																	0													132.0	121.0	125.0					16																	48172185		2201	4300	6501	SO:0001819	synonymous_variant	94160			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.933G>A	16.37:g.48172185C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L311	ENST00000311303.3	37	c.933	CCDS10730.1	16																																																																																			ABCC12	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.423	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	C	NM_033226		48172185	-1	no_errors	ENST00000311303	ensembl	human	known	70_37	silent	SNP	1.000	T
ABCC5	10057	genome.wustl.edu	37	3	183685504	183685504	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:183685504G>C	ENST00000334444.6	-	12	2052	c.1812C>G	c.(1810-1812)ctC>ctG	p.L604L	ABCC5_ENST00000265586.6_Silent_p.L604L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	604	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TGGCTGAAATGAGAGAGGTTT	0.443																																																	0													220.0	217.0	218.0					3																	183685504		1895	4120	6015	SO:0001819	synonymous_variant	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1812C>G	3.37:g.183685504G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L604	ENST00000334444.6	37	c.1812	CCDS43176.1	3																																																																																			ABCC5	-	pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.443	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	G	NM_005688		183685504	-1	no_errors	ENST00000334444	ensembl	human	known	70_37	silent	SNP	0.975	C
ABCC6P1	653190	genome.wustl.edu	37	16	18584367	18584367	+	lincRNA	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:18584367C>T	ENST00000602805.1	-	0	0				ABCC6P1_ENST00000546162.2_RNA																							GTTCCCCACTCTTCAAAGCCA	0.597																																																	0																																												653190																															16.37:g.18584367C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000602805.1	37	NULL		16																																																																																			ABCC6P1	-	-		0.597	RP11-457I16.2-002	KNOWN	basic	lincRNA	ABCC6P1	HGNC	lincRNA	OTTHUMT00000467737.1	C			18584367	+1	no_errors	ENST00000546162	ensembl	human	known	70_37	rna	SNP	1.000	T
ABCC6P1	653190	genome.wustl.edu	37	16	18584400	18584400	+	lincRNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:18584400G>A	ENST00000602805.1	-	0	0				ABCC6P1_ENST00000546162.2_RNA																							CCATCCCTGGGAGCCTGGAAC	0.582																																																	0																																												653190																															16.37:g.18584400G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000602805.1	37	NULL		16																																																																																			ABCC6P1	-	-		0.582	RP11-457I16.2-002	KNOWN	basic	lincRNA	ABCC6P1	HGNC	lincRNA	OTTHUMT00000467737.1	G			18584400	+1	no_errors	ENST00000565118	ensembl	human	known	70_37	rna	SNP	0.054	A
ABCD3	5825	genome.wustl.edu	37	1	94980663	94980663	+	Intron	SNP	C	C	G	rs551093519		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:94980663C>G	ENST00000370214.4	+	22	1869				ABCD3_ENST00000454898.2_Intron|ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000484213.1_Intron|ABCD3_ENST00000536817.1_Intron	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3						ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ATTTGTGACTCTGTTACTCAT	0.333																																																	0													113.0	107.0	109.0					1																	94980663		2203	4295	6498	SO:0001627	intron_variant	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1846-39C>G	1.37:g.94980663C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	RNA	SNP	-	NULL	ENST00000370214.4	37	NULL	CCDS749.1	1																																																																																			ABCD3	-	-		0.333	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	C	NM_002858		94980663	+1	no_errors	ENST00000464165	ensembl	human	known	70_37	rna	SNP	0.000	G
ABHD2	11057	genome.wustl.edu	37	15	89728683	89728683	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:89728683C>G	ENST00000352732.5	+	7	1271	c.751C>G	c.(751-753)Cag>Gag	p.Q251E	ABHD2_ENST00000565973.1_Missense_Mutation_p.Q251E|ABHD2_ENST00000355100.3_Missense_Mutation_p.Q251E	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	251					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCAATGGGATCAGTGCCGGCG	0.582																																					Colon(11;252 417 24570 33239 41878)												0													121.0	95.0	104.0					15																	89728683		2200	4299	6499	SO:0001583	missense	11057			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.751C>G	15.37:g.89728683C>G	ENSP00000268129:p.Gln251Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.Q251E	ENST00000352732.5	37	c.751	CCDS10348.1	15	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210055	0.58343	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.59906	0.23;0.23	5.5	5.5	0.81552	Alpha/beta hydrolase fold-1 (1);	0.051496	0.85682	D	0.000000	T	0.53190	0.1781	L	0.44542	1.39	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.44436	-0.9328	10	0.30854	T	0.27	-1.3624	19.4051	0.94644	0.0:1.0:0.0:0.0	.	251	P08910	ABHD2_HUMAN	E	251	ENSP00000268129:Q251E;ENSP00000347217:Q251E	ENSP00000268129:Q251E	Q	+	1	0	ABHD2	87529687	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	4.694000	0.61760	2.579000	0.87056	0.655000	0.94253	CAG	ABHD2	-	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT		0.582	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD2	HGNC	protein_coding	OTTHUMT00000309074.2	C			89728683	+1	no_errors	ENST00000352732	ensembl	human	known	70_37	missense	SNP	1.000	G
ABHD8	79575	genome.wustl.edu	37	19	17405099	17405099	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:17405099C>A	ENST00000247706.3	-	4	1386	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	MRPL34_ENST00000600434.1_Intron|CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	383							hydrolase activity (GO:0016787)	p.E383*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GCCTCTACCTCGGCCATGCGC	0.692																																					Ovarian(156;1368 2543 15275 41187)												1	Substitution - Nonsense(1)	lung(1)											33.0	31.0	32.0					19																	17405099		2203	4299	6502	SO:0001587	stop_gained	79575			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1147G>T	19.37:g.17405099C>A	ENSP00000247706:p.Glu383*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HAE9	Nonsense_Mutation	SNP	pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.E383*	ENST00000247706.3	37	c.1147	CCDS12355.1	19	.	.	.	.	.	.	.	.	.	.	C	38	6.846917	0.97881	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-40.1754	16.4003	0.83639	0.0:1.0:0.0:0.0	.	.	.	.	X	383;329	.	ENSP00000247706:E383X	E	-	1	0	ABHD8	17266099	1.000000	0.71417	0.948000	0.38648	0.329000	0.28539	7.426000	0.80270	2.470000	0.83445	0.655000	0.94253	GAG	ABHD8	-	pfam_AB_hydrolase_1		0.692	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD8	HGNC	protein_coding	OTTHUMT00000462937.1	C	NM_024527		17405099	-1	no_errors	ENST00000247706	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ABL1	25	genome.wustl.edu	37	9	133759498	133759498	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:133759498G>A	ENST00000318560.5	+	11	2202	c.1821G>A	c.(1819-1821)aaG>aaA	p.K607K		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	607	Poly-Lys.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TCAAGAAGAAGAAGAAGACAG	0.607			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													73.0	84.0	80.0					9																	133759498		2203	4300	6503	SO:0001819	synonymous_variant	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1821G>A	9.37:g.133759498G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.K626	ENST00000318560.5	37	c.1878	CCDS35166.1	9																																																																																			ABL1	-	NULL		0.607	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	G	NM_007313		133759498	+1	no_errors	ENST00000372348	ensembl	human	known	70_37	silent	SNP	1.000	A
ACAA2	10449	genome.wustl.edu	37	18	47310231	47310231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:47310231G>A	ENST00000285093.10	-	10	1655	c.1180C>T	c.(1180-1182)Cag>Tag	p.Q394*	ACAA2_ENST00000587994.1_Nonsense_Mutation_p.Q391*|ACAA2_ENST00000589432.1_Nonsense_Mutation_p.Q339*	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	394					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(7)|ovary(1)	10						GCTGTGCTCTGAATGATGACA	0.498																																																	0													98.0	71.0	80.0					18																	47310231		2203	4298	6501	SO:0001587	stop_gained	10449			D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"""mitochondrial 3-oxoacyl-Coenzyme A thiolase"""	604770	"""acetyl-Coenzyme A acyltransferase 2"""			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.1180C>T	18.37:g.47310231G>A	ENSP00000285093:p.Gln394*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BUT6	Nonsense_Mutation	SNP	pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.Q394*	ENST00000285093.10	37	c.1180	CCDS11939.1	18	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237316	0.79800	.	.	ENSG00000167315	ENST00000285093	.	.	.	5.88	-2.9	0.05648	.	0.207712	0.48767	D	0.000170	.	.	.	.	.	.	0.34263	D	0.680092	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-0.6243	25.6743	0.99995	0.0:0.5205:0.4795:0.0	.	.	.	.	X	394	.	ENSP00000285093:Q394X	Q	-	1	0	ACAA2	45564229	0.225000	0.23685	0.017000	0.16124	0.156000	0.22039	0.519000	0.22862	-0.395000	0.07715	-0.175000	0.13238	CAG	ACAA2	-	pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase		0.498	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACAA2	HGNC	protein_coding	OTTHUMT00000255921.2	G	NM_006111		47310231	-1	no_errors	ENST00000285093	ensembl	human	known	70_37	nonsense	SNP	0.016	A
ACADM	34	genome.wustl.edu	37	1	76200550	76200550	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:76200550G>C	ENST00000370841.4	+	6	899	c.462G>C	c.(460-462)ttG>ttC	p.L154F	ACADM_ENST00000541113.1_Missense_Mutation_p.L118F|ACADM_ENST00000370834.5_Missense_Mutation_p.L187F|ACADM_ENST00000543667.1_Intron|ACADM_ENST00000420607.2_Missense_Mutation_p.L158F	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	154					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	AGGAGCCATTGATGTGTGTGA	0.348																																																	0													105.0	97.0	100.0					1																	76200550		2203	4300	6503	SO:0001583	missense	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.462G>C	1.37:g.76200550G>C	ENSP00000359878:p.Leu154Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T4U4|Q9NYF1	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.L158F	ENST00000370841.4	37	c.474	CCDS668.1	1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478618	0.26511	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607	D;D;D;D	0.98996	-5.31;-5.31;-5.31;-5.31	5.63	-0.506	0.11989	Acyl-CoA dehydrogenase/oxidase (1);	0.284342	0.32671	N	0.005781	D	0.93906	0.8050	L	0.60845	1.875	0.80722	D	1	P;B;B;B;B	0.41265	0.744;0.003;0.014;0.056;0.015	B;B;B;B;B	0.41412	0.356;0.007;0.031;0.05;0.022	D	0.91300	0.5066	10	0.10377	T	0.69	.	1.9157	0.03297	0.4126:0.124:0.3369:0.1265	.	118;68;187;158;154	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	F	154;187;118;158	ENSP00000359878:L154F;ENSP00000359871:L187F;ENSP00000442324:L118F;ENSP00000409612:L158F	ENSP00000359871:L187F	L	+	3	2	ACADM	75973138	0.017000	0.18338	0.536000	0.28039	0.745000	0.42441	-0.867000	0.04241	-0.056000	0.13221	0.655000	0.94253	TTG	ACADM	-	superfamily_AcylCoA_DH/oxidase		0.348	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACADM	HGNC	protein_coding	OTTHUMT00000026967.1	G			76200550	+1	no_errors	ENST00000420607	ensembl	human	known	70_37	missense	SNP	0.285	C
ACADS	35	genome.wustl.edu	37	12	121176978	121176978	+	Silent	SNP	C	C	T	rs697853		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:121176978C>T	ENST00000242592.4	+	9	1216	c.1065C>T	c.(1063-1065)gcC>gcT	p.A355A	RP11-173P15.7_ENST00000542620.1_RNA|ACADS_ENST00000411593.2_Silent_p.A351A	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	355					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CCTCGGAGGCCGCGACCGCCA	0.667																																																	0								C		1,4329		0,1,2164	28.0	27.0	27.0		1065	-4.7	0.9	12	dbSNP_86	27	1,8447		0,1,4223	no	coding-synonymous	ACADS	NM_000017.2		0,2,6387	TT,TC,CC		0.0118,0.0231,0.0157		355/413	121176978	2,12776	2165	4224	6389	SO:0001819	synonymous_variant	35			M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.1065C>T	12.37:g.121176978C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P78331	Silent	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.A355	ENST00000242592.4	37	c.1065	CCDS9207.1	12																																																																																			ACADS	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.667	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADS	HGNC	protein_coding	OTTHUMT00000402861.1	C	NM_000017		121176978	+1	no_errors	ENST00000242592	ensembl	human	known	70_37	silent	SNP	0.911	T
ACADS	35	genome.wustl.edu	37	12	121177133	121177133	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:121177133C>G	ENST00000242592.4	+	10	1272	c.1121C>G	c.(1120-1122)aCa>aGa	p.T374R	RP11-173P15.7_ENST00000542620.1_RNA|ACADS_ENST00000411593.2_Missense_Mutation_p.T370R	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	374					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	GGCTACGTGACAGAGATGCCG	0.642																																																	0													27.0	29.0	28.0					12																	121177133		2199	4298	6497	SO:0001583	missense	35			M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.1121C>G	12.37:g.121177133C>G	ENSP00000242592:p.Thr374Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	P78331	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.T374R	ENST00000242592.4	37	c.1121	CCDS9207.1	12	.	.	.	.	.	.	.	.	.	.	C	8.487	0.861138	0.17178	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.95756	-3.8;-3.8	4.74	3.84	0.44239	Acyl-CoA dehydrogenase, conserved site (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.293921	0.31335	N	0.007840	D	0.84288	0.5439	N	0.01464	-0.85	0.54753	D	0.999983	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.007	T	0.76841	-0.2810	10	0.20046	T	0.44	.	10.0578	0.42255	0.1553:0.695:0.1497:0.0	.	374;374	E5KSD5;P16219	.;ACADS_HUMAN	R	374;370	ENSP00000242592:T374R;ENSP00000401045:T370R	ENSP00000242592:T374R	T	+	2	0	ACADS	119661516	1.000000	0.71417	0.998000	0.56505	0.527000	0.34593	4.632000	0.61311	0.983000	0.38602	0.561000	0.74099	ACA	ACADS	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.642	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADS	HGNC	protein_coding	OTTHUMT00000402861.1	C	NM_000017		121177133	+1	no_errors	ENST00000242592	ensembl	human	known	70_37	missense	SNP	1.000	G
ACAT1	38	genome.wustl.edu	37	11	108018080	108018080	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:108018080G>A	ENST00000265838.4	+	12	1338	c.1247G>A	c.(1246-1248)gGa>gAa	p.G416E		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	416					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	TGCAATGGAGGAGGAGGTGCT	0.453																																																	0													149.0	131.0	137.0					11																	108018080		2201	4298	6499	SO:0001583	missense	38			D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.1247G>A	11.37:g.108018080G>A	ENSP00000265838:p.Gly416Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.G416E	ENST00000265838.4	37	c.1247	CCDS8339.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.394676	0.96009	.	.	ENSG00000075239	ENST00000265838	D	0.96073	-3.9	5.87	5.87	0.94306	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.105320	0.64402	D	0.000004	D	0.98918	0.9633	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99038	1.0823	10	0.87932	D	0	-10.2222	20.2181	0.98305	0.0:0.0:1.0:0.0	.	416	P24752	THIL_HUMAN	E	416	ENSP00000265838:G416E	ENSP00000265838:G416E	G	+	2	0	ACAT1	107523290	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.509000	0.98002	2.785000	0.95823	0.655000	0.94253	GGA	ACAT1	-	pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase		0.453	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAT1	HGNC	protein_coding	OTTHUMT00000389474.1	G	NM_000019		108018080	+1	no_errors	ENST00000265838	ensembl	human	known	70_37	missense	SNP	1.000	A
ACE	1636	genome.wustl.edu	37	17	61568382	61568382	+	Silent	SNP	G	G	C	rs537418583		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:61568382G>C	ENST00000290866.4	+	18	2733	c.2709G>C	c.(2707-2709)tcG>tcC	p.S903S	ACE_ENST00000577647.1_Silent_p.S329S|ACE_ENST00000413513.3_Silent_p.S329S|ACE_ENST00000290863.6_Silent_p.S329S|ACE_ENST00000490216.2_Silent_p.S329S|ACE_ENST00000421982.2_Silent_p.S149S|ACE_ENST00000428043.1_Silent_p.S903S	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	903	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CAGCCCCCTCGATGGACACCA	0.642																																																	0													104.0	96.0	98.0					17																	61568382		2203	4300	6503	SO:0001819	synonymous_variant	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2709G>C	17.37:g.61568382G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.S903	ENST00000290866.4	37	c.2709	CCDS11637.1	17																																																																																			ACE	-	pfam_Peptidase_M2		0.642	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	G			61568382	+1	no_errors	ENST00000290866	ensembl	human	known	70_37	silent	SNP	0.205	C
ACHE	43	genome.wustl.edu	37	7	100491481	100491481	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:100491481C>G	ENST00000412389.1	-	1	528	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	ACHE_ENST00000302913.4_Missense_Mutation_p.E125Q|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000241069.5_Missense_Mutation_p.E125Q|ACHE_ENST00000419336.2_Missense_Mutation_p.E125Q|ACHE_ENST00000411582.1_Missense_Mutation_p.E125Q|ACHE_ENST00000428317.1_Missense_Mutation_p.E125Q			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	125					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	AGGCAGTCCTCGCTCAGCTCA	0.582																																																	0													138.0	124.0	129.0					7																	100491481		2203	4300	6503	SO:0001583	missense	43				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.373G>C	7.37:g.100491481C>G	ENSP00000394976:p.Glu125Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.E125Q	ENST00000412389.1	37	c.373	CCDS5709.1	7	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537614	0.85917	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451;ENST00000441605	D;D;D;D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	5.22	5.22	0.72569	Carboxylesterase type B, conserved site (1);Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.96914	0.8992	H	0.99806	4.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.999	D	0.98871	1.0766	10	0.87932	D	0	.	16.2469	0.82449	0.0:1.0:0.0:0.0	.	125;125;125;125	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	Q	125	ENSP00000403474:E125Q;ENSP00000241069:E125Q;ENSP00000414858:E125Q;ENSP00000303211:E125Q;ENSP00000394976:E125Q;ENSP00000397143:E125Q;ENSP00000399725:E125Q;ENSP00000404865:E125Q;ENSP00000396360:E125Q	ENSP00000241069:E125Q	E	-	1	0	ACHE	100329417	1.000000	0.71417	0.965000	0.40720	0.994000	0.84299	7.540000	0.82074	2.414000	0.81942	0.561000	0.74099	GAG	ACHE	-	pfam_CarbesteraseB		0.582	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	HGNC	protein_coding	OTTHUMT00000347201.1	C	NM_015831		100491481	-1	no_errors	ENST00000302913	ensembl	human	known	70_37	missense	SNP	0.999	G
ACOT7	11332	genome.wustl.edu	37	1	6409872	6409872	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:6409872G>C	ENST00000377855.2	-	2	374	c.228C>G	c.(226-228)atC>atG	p.I76M	ACOT7_ENST00000608083.1_Missense_Mutation_p.I34M|ACOT7_ENST00000545482.1_Intron|ACOT7_ENST00000377842.3_Missense_Mutation_p.I25M|ACOT7_ENST00000361521.4_Missense_Mutation_p.I66M|ACOT7_ENST00000377845.3_Missense_Mutation_p.I46M|ACOT7_ENST00000541130.1_Missense_Mutation_p.I46M	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	76	Acyl coenzyme A hydrolase 1.				coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		TCATCTTCAGGATGGTCCCCC	0.622																																					GBM(74;673 1226 4974 11850 13190)												0													67.0	56.0	60.0					1																	6409872		2203	4300	6503	SO:0001583	missense	11332			AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"""Acyl CoA thioesterases"""	24157	protein-coding gene	gene with protein product	"""brain acyl CoA hydrolase"""	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.228C>G	1.37:g.6409872G>C	ENSP00000367086:p.Ile76Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Missense_Mutation	SNP	pfam_Thioestr_supf	p.I76M	ENST00000377855.2	37	c.228	CCDS65.1	1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136740	0.56936	.	.	ENSG00000097021	ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000541130	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	4.48	1.85	0.25348	Thioesterase superfamily (1);	0.063063	0.64402	D	0.000008	T	0.39989	0.1099	M	0.62209	1.925	0.34848	D	0.741398	P;P;B;P	0.44380	0.71;0.6;0.309;0.834	P;D;B;P	0.65987	0.671;0.94;0.368;0.864	T	0.47209	-0.9135	10	0.45353	T	0.12	.	5.0466	0.14487	0.4727:0.0:0.5273:0.0	.	66;76;46;25	B3KQ12;O00154;O00154-5;O00154-6	.;BACH_HUMAN;.;.	M	76;46;25;66;46	ENSP00000367086:I76M;ENSP00000367076:I46M;ENSP00000367073:I25M;ENSP00000354615:I66M;ENSP00000441872:I46M	ENSP00000354615:I66M	I	-	3	3	ACOT7	6332459	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.229000	0.42990	0.781000	0.33589	0.650000	0.86243	ATC	ACOT7	-	pfam_Thioestr_supf		0.622	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOT7	HGNC	protein_coding	OTTHUMT00000003773.1	G	NM_007274		6409872	-1	no_errors	ENST00000377855	ensembl	human	known	70_37	missense	SNP	1.000	C
ACOT9	23597	genome.wustl.edu	37	X	23722844	23722844	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:23722844C>G	ENST00000336430.7	-	14	1329	c.1198G>C	c.(1198-1200)Gaa>Caa	p.E400Q	ACOT9_ENST00000379295.1_Missense_Mutation_p.E340Q|ACOT9_ENST00000379303.5_Missense_Mutation_p.E409Q	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	400					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AATGGCACTTCTTTTTCCGAC	0.398																																																	0													175.0	168.0	170.0					X																	23722844		2203	4300	6503	SO:0001583	missense	23597			AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"""Acyl CoA thioesterases"""	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.1198G>C	X.37:g.23722844C>G	ENSP00000336580:p.Glu400Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNC9|B7ZM94	Missense_Mutation	SNP	pfam_Thioestr_supf	p.E409Q	ENST00000336430.7	37	c.1225	CCDS35216.1	X	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104731	0.56291	.	.	ENSG00000123130	ENST00000379303;ENST00000336430;ENST00000379295	T;T;T	0.35048	1.33;1.33;1.33	5.09	5.09	0.68999	.	0.233433	0.49916	D	0.000128	T	0.43122	0.1233	L	0.55743	1.74	0.80722	D	1	B;B;B	0.32338	0.12;0.25;0.365	B;B;B	0.41619	0.185;0.197;0.361	T	0.20806	-1.0264	10	0.21540	T	0.41	-10.0087	18.2211	0.89902	0.0:1.0:0.0:0.0	.	367;400;409	Q9Y305-2;Q9Y305;Q9Y305-4	.;ACOT9_HUMAN;.	Q	409;400;340	ENSP00000368605:E409Q;ENSP00000336580:E400Q;ENSP00000368597:E340Q	ENSP00000336580:E400Q	E	-	1	0	ACOT9	23632765	1.000000	0.71417	0.994000	0.49952	0.857000	0.48899	3.938000	0.56583	2.436000	0.82500	0.506000	0.49869	GAA	ACOT9	-	NULL		0.398	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT9	HGNC	protein_coding	OTTHUMT00000056065.1	C	NM_012332		23722844	-1	no_errors	ENST00000379303	ensembl	human	known	70_37	missense	SNP	0.998	G
ACOX1	51	genome.wustl.edu	37	17	73945634	73945634	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:73945634C>T	ENST00000301608.4	-	11	1586	c.1526G>A	c.(1525-1527)aGa>aAa	p.R509K	ACOX1_ENST00000537812.1_Missense_Mutation_p.R471K|ACOX1_ENST00000293217.5_Missense_Mutation_p.R509K	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	509					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	CTTGCTTTTTCTGTGAATCAC	0.428																																																	0													148.0	138.0	141.0					17																	73945634		2203	4300	6503	SO:0001583	missense	51			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1526G>A	17.37:g.73945634C>T	ENSP00000301608:p.Arg509Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.R509K	ENST00000301608.4	37	c.1526	CCDS11735.1	17	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403959	0.83230	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.39997	1.05;1.05;1.05	5.3	5.3	0.74995	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.207163	0.48767	D	0.000169	T	0.43010	0.1228	L	0.49699	1.58	0.46376	D	0.999018	B;B;B;B	0.21071	0.03;0.051;0.003;0.0	B;B;B;B	0.18561	0.022;0.022;0.006;0.003	T	0.34700	-0.9818	10	0.66056	D	0.02	-20.3533	19.3773	0.94517	0.0:1.0:0.0:0.0	.	441;471;509;509	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	K	509;509;471;509;441	ENSP00000301608:R509K;ENSP00000293217:R509K;ENSP00000441257:R471K	ENSP00000293217:R509K	R	-	2	0	ACOX1	71457229	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	5.317000	0.65822	2.652000	0.90054	0.655000	0.94253	AGA	ACOX1	-	pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase		0.428	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOX1	HGNC	protein_coding	OTTHUMT00000439503.1	C			73945634	-1	no_errors	ENST00000293217	ensembl	human	known	70_37	missense	SNP	1.000	T
ACOX2	8309	genome.wustl.edu	37	3	58510215	58510215	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:58510215C>G	ENST00000302819.5	-	11	1755	c.1464G>C	c.(1462-1464)caG>caC	p.Q488H	ACOX2_ENST00000481527.1_5'Flank|ACOX2_ENST00000459701.2_Missense_Mutation_p.Q474H	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	488					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CGGCTGCCCTCTGGGCTGGAC	0.612																																																	0													85.0	79.0	81.0					3																	58510215		2203	4300	6503	SO:0001583	missense	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1464G>C	3.37:g.58510215C>G	ENSP00000307697:p.Gln488His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF16|B2R8U5	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.Q488H	ENST00000302819.5	37	c.1464	CCDS33775.1	3	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892696	0.33442	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.15017	2.46;2.46	4.99	3.16	0.36331	Acyl-CoA dehydrogenase/oxidase C-terminal (1);	0.312296	0.27609	N	0.018612	T	0.08626	0.0214	N	0.08118	0	0.32574	N	0.529395	B	0.15473	0.013	B	0.13407	0.009	T	0.06463	-1.0825	10	0.54805	T	0.06	-39.9611	8.4787	0.33030	0.0:0.813:0.0:0.187	.	488	Q99424	ACOX2_HUMAN	H	474;488	ENSP00000418562:Q474H;ENSP00000307697:Q488H	ENSP00000307697:Q488H	Q	-	3	2	ACOX2	58485255	0.441000	0.25626	0.838000	0.33150	0.368000	0.29767	1.434000	0.34958	0.598000	0.29829	-0.203000	0.12734	CAG	ACOX2	-	superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase		0.612	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	HGNC	protein_coding	OTTHUMT00000353541.1	C			58510215	-1	no_errors	ENST00000302819	ensembl	human	known	70_37	missense	SNP	0.928	G
ACPT	93650	genome.wustl.edu	37	19	51295547	51295547	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:51295547G>A	ENST00000270593.1	+	6	598	c.598G>A	c.(598-600)Gag>Aag	p.E200K	CTD-2568A17.8_ENST00000594114.1_RNA|ACPT_ENST00000270594.3_Missense_Mutation_p.E107K	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	200						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GCTGGTTGGAGAGCCACTGCG	0.647																																																	0													65.0	60.0	62.0					19																	51295547		2203	4300	6503	SO:0001583	missense	93650			AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.598G>A	19.37:g.51295547G>A	ENSP00000270593:p.Glu200Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.E107K	ENST00000270593.1	37	c.319	CCDS12802.1	19	.	.	.	.	.	.	.	.	.	.	g	18.53	3.643831	0.67244	.	.	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.76060	1.46;-0.99	4.4	4.4	0.53042	.	0.640556	0.14281	N	0.329556	T	0.67335	0.2882	L	0.28608	0.87	0.35170	D	0.77152	P	0.47545	0.897	P	0.48488	0.579	T	0.65438	-0.6168	10	0.06757	T	0.87	-21.6354	14.8387	0.70206	0.0:0.0:1.0:0.0	.	200	Q9BZG2	PPAT_HUMAN	K	200;107	ENSP00000270593:E200K;ENSP00000270594:E107K	ENSP00000270593:E200K	E	+	1	0	ACPT	55987359	0.999000	0.42202	0.997000	0.53966	0.910000	0.53928	3.891000	0.56227	2.177000	0.69029	0.455000	0.32223	GAG	ACPT	-	NULL		0.647	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACPT	HGNC	protein_coding	OTTHUMT00000464434.1	G	NM_033068		51295547	+1	no_errors	ENST00000270594	ensembl	human	known	70_37	missense	SNP	1.000	A
ACRV1	56	genome.wustl.edu	37	11	125546339	125546339	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:125546339C>T	ENST00000533904.1	-	3	930	c.588G>A	c.(586-588)atG>atA	p.M196I	ACRV1_ENST00000425431.1_Missense_Mutation_p.M52I|ACRV1_ENST00000527795.1_Missense_Mutation_p.M126I|ACRV1_ENST00000453509.1_Missense_Mutation_p.M107I|ACRV1_ENST00000445562.1_Missense_Mutation_p.M101I|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000348856.3_Missense_Mutation_p.M96I|ACRV1_ENST00000530048.1_Missense_Mutation_p.M141I|ACRV1_ENST00000315608.3_Missense_Mutation_p.M177I|ACRV1_ENST00000353070.1_Intron			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	196					multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		CTTGATCATTCATATAAGCAC	0.398																																																	0													144.0	139.0	141.0					11																	125546339		2201	4299	6500	SO:0001583	missense	56			AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"""sperm protein 10"""	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.588G>A	11.37:g.125546339C>T	ENSP00000432816:p.Met196Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53FF4	Missense_Mutation	SNP	NULL	p.M196I	ENST00000533904.1	37	c.588	CCDS8460.1	11	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983226	0.53827	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000257382;ENST00000426183;ENST00000453509;ENST00000445562;ENST00000348856;ENST00000425431;ENST00000315608;ENST00000530048;ENST00000527795	T;T;T;T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	4.69	4.69	0.59074	.	0.000000	0.53938	D	0.000058	T	0.45034	0.1322	L	0.56769	1.78	0.80722	D	1	D;P;D;D;P;D;B	0.71674	0.986;0.952;0.986;0.998;0.93;0.982;0.257	D;P;D;D;B;D;B	0.79784	0.971;0.892;0.974;0.993;0.43;0.961;0.141	T	0.18023	-1.0350	10	0.40728	T	0.16	-2.34	13.3297	0.60479	0.0:1.0:0.0:0.0	.	196;177;101;141;52;126;107	P26436;P26436-2;P26436-6;P26436-3;P26436-10;P26436-4;P26436-5	ASPX_HUMAN;.;.;.;.;.;.	I	196;177;141;126;107;101;96;52;177;141;126	ENSP00000432816:M196I;ENSP00000407846:M177I;ENSP00000257382:M141I;ENSP00000411583:M126I;ENSP00000397448:M107I;ENSP00000412653:M101I;ENSP00000257385:M96I;ENSP00000395453:M52I;ENSP00000317684:M177I;ENSP00000433720:M141I;ENSP00000436819:M126I	ENSP00000257382:M141I	M	-	3	0	ACRV1	125051549	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.114000	0.50383	2.596000	0.87737	0.655000	0.94253	ATG	ACRV1	-	NULL		0.398	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACRV1	HGNC	protein_coding	OTTHUMT00000386722.1	C	NM_001612		125546339	-1	no_errors	ENST00000533904	ensembl	human	known	70_37	missense	SNP	1.000	T
ACSL3	2181	genome.wustl.edu	37	2	223789179	223789179	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:223789179C>T	ENST00000357430.3	+	11	1689	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	ACSL3_ENST00000392066.3_Silent_p.I386I	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	386					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAGGAAATCATGGATCGGA	0.294			T	ETV1	prostate																																			Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	0													68.0	67.0	67.0					2																	223789179		2203	4300	6503	SO:0001819	synonymous_variant	2181			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.1158C>T	2.37:g.223789179C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q60I92|Q8IUM9	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.I386	ENST00000357430.3	37	c.1158	CCDS2455.1	2																																																																																			ACSL3	-	pfam_AMP-dep_Synth/Lig		0.294	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL3	HGNC	protein_coding	OTTHUMT00000256862.2	C	NM_004457		223789179	+1	no_errors	ENST00000357430	ensembl	human	known	70_37	silent	SNP	0.999	T
ACSS3	79611	genome.wustl.edu	37	12	81503391	81503391	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:81503391G>C	ENST00000548058.1	+	2	1274	c.364G>C	c.(364-366)Gaa>Caa	p.E122Q	RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Missense_Mutation_p.E121Q			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	122						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TCGTCATATTGAAAATGGTAA	0.338																																																	0													111.0	108.0	109.0					12																	81503391		2203	4298	6501	SO:0001583	missense	79611				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.364G>C	12.37:g.81503391G>C	ENSP00000449535:p.Glu122Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448	p.E122Q	ENST00000548058.1	37	c.364	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116262	0.56505	.	.	ENSG00000111058	ENST00000549175;ENST00000548058;ENST00000261206	T;T;T	0.50548	0.74;2.81;2.81	6.07	6.07	0.98685	Acyl-CoA synthase, domain of unknown function DUF3448 (1);	0.000000	0.85682	D	0.000000	T	0.50667	0.1629	L	0.49640	1.575	0.80722	D	1	P	0.47484	0.896	P	0.48270	0.572	T	0.49000	-0.8984	10	0.52906	T	0.07	-34.7674	13.3937	0.60838	0.075:0.0:0.925:0.0	.	122	Q9H6R3	ACSS3_HUMAN	Q	14;122;121	ENSP00000447748:E14Q;ENSP00000449535:E122Q;ENSP00000261206:E121Q	ENSP00000261206:E121Q	E	+	1	0	ACSS3	80027522	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.574000	0.74014	2.885000	0.99019	0.655000	0.94253	GAA	ACSS3	-	pfam_Acyl-CoA_synth_DUF3448		0.338	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	G	NM_024560		81503391	+1	no_errors	ENST00000548058	ensembl	human	known	70_37	missense	SNP	1.000	C
ACTL10	170487	genome.wustl.edu	37	20	32255523	32255523	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:32255523C>T	ENST00000330271.4	+	1	1220	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	ACL10_HUMAN	actin-like 10	74																	GGCCCTGCCCCGCAAGGCCAT	0.672																																																	0													43.0	37.0	39.0					20																	32255523		2198	4297	6495	SO:0001583	missense	170487			AL121906	CCDS33463.1	20q11.22	2011-11-24	2011-11-24	2011-11-24	ENSG00000182584	ENSG00000182584			16127	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 134"""	C20orf134			Standard	NM_001024675		Approved		uc002wzt.3	Q5JWF8	OTTHUMG00000032262	ENST00000330271.4:c.220C>T	20.37:g.32255523C>T	ENSP00000329647:p.Arg74Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EH76	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.R74C	ENST00000330271.4	37	c.220	CCDS33463.1	20	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542240	0.45280	.	.	ENSG00000182584	ENST00000330271	D	0.94828	-3.53	4.9	3.93	0.45458	.	0.152084	0.31020	N	0.008413	D	0.96549	0.8874	M	0.92604	3.325	0.41254	D	0.986733	D	0.76494	0.999	P	0.60886	0.88	D	0.95907	0.8920	10	0.87932	D	0	-27.8557	4.1209	0.10104	0.1605:0.5955:0.1554:0.0885	.	74	Q5JWF8	CT134_HUMAN	C	74	ENSP00000329647:R74C	ENSP00000329647:R74C	R	+	1	0	C20orf134	31719184	0.000000	0.05858	1.000000	0.80357	0.045000	0.14185	0.011000	0.13264	2.547000	0.85894	0.561000	0.74099	CGC	ACTL10	-	pfam_Actin-like,smart_Actin-like		0.672	ACTL10-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ACTL10	HGNC	protein_coding	OTTHUMT00000078713.1	C			32255523	+1	no_errors	ENST00000330271	ensembl	human	putative	70_37	missense	SNP	0.812	T
ACTL6A	86	genome.wustl.edu	37	3	179294466	179294466	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:179294466C>G	ENST00000429709.2	+	7	843	c.630C>G	c.(628-630)ttC>ttG	p.F210L	ACTL6A_ENST00000450518.2_Missense_Mutation_p.F168L|ACTL6A_ENST00000392662.1_Missense_Mutation_p.F168L|ACTL6A_ENST00000467615.1_3'UTR	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	210				F -> L (in Ref. 4; CAB66543). {ECO:0000305}.	ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GAGAACTCTTCCAAGAAATGA	0.383																																																	0													143.0	151.0	148.0					3																	179294466		2203	4300	6503	SO:0001583	missense	86			AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.630C>G	3.37:g.179294466C>G	ENSP00000397552:p.Phe210Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.F210L	ENST00000429709.2	37	c.630	CCDS3231.1	3	.	.	.	.	.	.	.	.	.	.	C	5.978	0.364353	0.11296	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	D;D;D	0.95690	-3.78;-3.78;-3.78	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.80439	0.4623	N	0.00841	-1.15	0.58432	D	0.999998	B	0.15719	0.014	B	0.15870	0.014	T	0.77558	-0.2543	10	0.02654	T	1	.	7.0393	0.25010	0.0:0.789:0.0:0.211	.	210	O96019	ACL6A_HUMAN	L	210;168;168	ENSP00000397552:F210L;ENSP00000394014:F168L;ENSP00000376430:F168L	ENSP00000376430:F168L	F	+	3	2	ACTL6A	180777160	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.188000	0.42612	2.517000	0.84864	0.650000	0.86243	TTC	ACTL6A	-	pfam_Actin-like,smart_Actin-like		0.383	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL6A	HGNC	protein_coding	OTTHUMT00000349599.1	C	NM_004301		179294466	+1	no_errors	ENST00000429709	ensembl	human	known	70_37	missense	SNP	1.000	G
ACTR1B	10120	genome.wustl.edu	37	2	98275838	98275838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:98275838G>A	ENST00000289228.5	-	4	508	c.292C>T	c.(292-294)Cag>Tag	p.Q98*		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	98					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						GTCTGCAGCTGATCCTTGGAG	0.652																																																	0													182.0	148.0	159.0					2																	98275838		2203	4300	6503	SO:0001587	stop_gained	10120			X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"""ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"""	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.292C>T	2.37:g.98275838G>A	ENSP00000289228:p.Gln98*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVH2|Q53SK5|Q9BRB7	Nonsense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.Q98*	ENST00000289228.5	37	c.292	CCDS2033.1	2	.	.	.	.	.	.	.	.	.	.	.	18.71	3.682879	0.68157	.	.	ENSG00000115073	ENST00000289228	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1821	0.81915	0.0:0.0:1.0:0.0	.	.	.	.	X	98	.	ENSP00000289228:Q98X	Q	-	1	0	ACTR1B	97642270	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	9.839000	0.99476	2.427000	0.82271	0.555000	0.69702	CAG	ACTR1B	-	pfam_Actin-like,smart_Actin-like		0.652	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR1B	HGNC	protein_coding	OTTHUMT00000252973.1	G	NM_005735		98275838	-1	no_errors	ENST00000289228	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ACTR3B	57180	genome.wustl.edu	37	7	152520588	152520588	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:152520588C>T	ENST00000256001.8	+	8	980	c.846C>T	c.(844-846)ttC>ttT	p.F282F	ACTR3B_ENST00000397282.2_Silent_p.F194F|ACTR3B_ENST00000537264.1_Silent_p.F194F|ACTR3B_ENST00000377776.3_Silent_p.F282F	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	282						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		CTGAAATATTCTTTCACCCGG	0.478																																																	0													196.0	188.0	191.0					7																	152520588		2203	4300	6503	SO:0001819	synonymous_variant	57180				CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.846C>T	7.37:g.152520588C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTG1|B4DFW4|Q7Z526|Q96BT2	Silent	SNP	pfam_Actin-like,smart_Actin-like	p.F282	ENST00000256001.8	37	c.846	CCDS5934.1	7																																																																																			ACTR3B	-	pfam_Actin-like,smart_Actin-like		0.478	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR3B	HGNC	protein_coding	OTTHUMT00000322803.1	C	NM_020445		152520588	+1	no_errors	ENST00000256001	ensembl	human	known	70_37	silent	SNP	1.000	T
ACTR5	79913	genome.wustl.edu	37	20	37377191	37377191	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:37377191G>A	ENST00000243903.4	+	1	107	c.70G>A	c.(70-72)Gtg>Atg	p.V24M		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	24					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GGCCGGCCCGGTGGCACACGG	0.746																																																	0													4.0	5.0	4.0					20																	37377191		1339	2446	3785	SO:0001583	missense	79913			AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.70G>A	20.37:g.37377191G>A	ENSP00000243903:p.Val24Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.V24M	ENST00000243903.4	37	c.70	CCDS13308.1	20	.	.	.	.	.	.	.	.	.	.	G	7.917	0.737775	0.15574	.	.	ENSG00000101442	ENST00000243903	D	0.96041	-3.89	4.3	2.23	0.28157	.	0.825816	0.11487	N	0.559108	D	0.89646	0.6775	L	0.34521	1.04	0.09310	N	1	B	0.29805	0.257	B	0.21360	0.034	T	0.81221	-0.1031	10	0.45353	T	0.12	-6.5341	5.0453	0.14480	0.0854:0.1423:0.6255:0.1469	.	24	Q9H9F9	ARP5_HUMAN	M	24	ENSP00000243903:V24M	ENSP00000243903:V24M	V	+	1	0	ACTR5	36810605	0.001000	0.12720	0.074000	0.20217	0.224000	0.24922	0.447000	0.21710	0.494000	0.27859	0.555000	0.69702	GTG	ACTR5	-	NULL		0.746	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR5	HGNC	protein_coding	OTTHUMT00000079205.2	G	NM_024855		37377191	+1	no_errors	ENST00000243903	ensembl	human	known	70_37	missense	SNP	0.002	A
ACTR6	64431	genome.wustl.edu	37	12	100594632	100594632	+	Start_Codon_SNP	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:100594632G>T	ENST00000188312.2	+	1	768	c.3G>T	c.(1-3)atG>atT	p.M1I	ACTR6_ENST00000550813.1_3'UTR|ACTR6_ENST00000552376.1_Start_Codon_SNP_p.M1I|ACTR6_ENST00000551617.1_5'UTR|ACTR6_ENST00000546902.1_5'UTR	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	1						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						GTGGTGAGATGACGACCTTAG	0.483																																																	0													270.0	212.0	232.0					12																	100594632		2203	4300	6503	SO:0001582	initiator_codon_variant	64431			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.3G>T	12.37:g.100594632G>T	ENSP00000188312:p.Met1Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.M1I	ENST00000188312.2	37	c.3	CCDS9074.1	12	.	.	.	.	.	.	.	.	.	.	.	19.24	3.789436	0.70337	.	.	ENSG00000075089	ENST00000188312;ENST00000552376	D;D	0.95622	-3.76;-3.75	5.5	5.5	0.81552	.	0.038479	0.85682	D	0.000000	D	0.96716	0.8928	.	.	.	0.80722	D	1	D;B;P	0.54964	0.969;0.426;0.481	D;B;B	0.70227	0.968;0.098;0.157	D	0.94229	0.7474	9	0.12430	T	0.62	.	19.1941	0.93679	0.0:0.0:1.0:0.0	.	1;1;1	B4DLG9;F8W057;Q9GZN1	.;.;ARP6_HUMAN	I	1	ENSP00000188312:M1I;ENSP00000447237:M1I	ENSP00000188312:M1I	M	+	3	0	ACTR6	99118763	1.000000	0.71417	0.982000	0.44146	0.508000	0.34012	7.946000	0.87746	2.854000	0.98071	0.655000	0.94253	ATG	ACTR6	-	smart_Actin-like		0.483	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR6	HGNC	protein_coding	OTTHUMT00000408159.1	G	NM_022496	Missense_Mutation	100594632	+1	no_errors	ENST00000188312	ensembl	human	known	70_37	missense	SNP	1.000	T
ACTR6	64431	genome.wustl.edu	37	12	100617638	100617638	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:100617638G>A	ENST00000188312.2	+	11	1901	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	ACTR6_ENST00000552376.1_Missense_Mutation_p.R359K|ACTR6_ENST00000551617.1_Missense_Mutation_p.R277K|ACTR6_ENST00000546902.1_Missense_Mutation_p.R297K	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	379						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						GTGGTAACAAGAGAAGATTAC	0.328																																																	0													123.0	125.0	125.0					12																	100617638		2203	4300	6503	SO:0001583	missense	64431			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.1136G>A	12.37:g.100617638G>A	ENSP00000188312:p.Arg379Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.R379K	ENST00000188312.2	37	c.1136	CCDS9074.1	12	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891926	0.72524	.	.	ENSG00000075089	ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;T;T	0.92249	-3.0;-3.0;3.25;3.25	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.85097	0.5619	N	0.17278	0.47	0.80722	D	1	B;B;B	0.25351	0.124;0.1;0.122	B;B;B	0.25884	0.024;0.038;0.064	T	0.80274	-0.1451	10	0.02654	T	1	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	277;359;379	F8VSD1;F8W057;Q9GZN1	.;.;ARP6_HUMAN	K	379;297;359;277	ENSP00000188312:R379K;ENSP00000448669:R297K;ENSP00000447237:R359K;ENSP00000448356:R277K	ENSP00000188312:R379K	R	+	2	0	ACTR6	99141769	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.260000	0.95568	2.824000	0.97209	0.655000	0.94253	AGA	ACTR6	-	pfam_Actin-like,smart_Actin-like		0.328	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR6	HGNC	protein_coding	OTTHUMT00000408159.1	G	NM_022496		100617638	+1	no_errors	ENST00000188312	ensembl	human	known	70_37	missense	SNP	1.000	A
ACTRT3	84517	genome.wustl.edu	37	3	169486122	169486122	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:169486122C>T	ENST00000330368.2	-	2	591	c.217G>A	c.(217-219)Ggt>Agt	p.G73S	RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	73						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											GTAATGAGACCACGCTCCACT	0.423																																																	0													61.0	58.0	59.0					3																	169486122		2203	4300	6503	SO:0001583	missense	84517			AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.217G>A	3.37:g.169486122C>T	ENSP00000333037:p.Gly73Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96IS0|Q96NJ0	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.G73S	ENST00000330368.2	37	c.217	CCDS3206.1	3	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779025	0.49891	.	.	ENSG00000184378	ENST00000330368	D	0.97505	-4.41	5.08	4.22	0.49857	.	0.000000	0.53938	D	0.000054	D	0.98588	0.9528	M	0.90870	3.155	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	D	0.99541	1.0963	10	0.87932	D	0	.	13.1799	0.59649	0.0:0.9214:0.0:0.0786	.	73	Q9BYD9	ARPM1_HUMAN	S	73	ENSP00000333037:G73S	ENSP00000333037:G73S	G	-	1	0	AC078802.1	170968816	1.000000	0.71417	0.821000	0.32701	0.001000	0.01503	5.829000	0.69316	1.520000	0.48965	-0.126000	0.14955	GGT	ACTRT3	-	pfam_Actin-like,smart_Actin-like,prints_Actin-like		0.423	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT3	HGNC	protein_coding	OTTHUMT00000467797.1	C	NM_032487		169486122	-1	no_errors	ENST00000330368	ensembl	human	known	70_37	missense	SNP	0.999	T
ACVR2A	92	genome.wustl.edu	37	2	148674909	148674909	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:148674909G>C	ENST00000241416.7	+	6	1366	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	ACVR2A_ENST00000404590.1_Missense_Mutation_p.E244Q|ACVR2A_ENST00000535787.1_Missense_Mutation_p.E136Q	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	244	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AATGAAGCATGAGAACATATT	0.378																																																	0													109.0	91.0	97.0					2																	148674909		2203	4300	6503	SO:0001583	missense	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.730G>C	2.37:g.148674909G>C	ENSP00000241416:p.Glu244Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.E244Q	ENST00000241416.7	37	c.730	CCDS33301.1	2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348769	0.82132	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.93712	-3.27;-3.27;-3.27	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.089490	0.85682	D	0.000000	D	0.92355	0.7574	L	0.41824	1.3	0.80722	D	1	P	0.36633	0.562	B	0.41946	0.371	D	0.92120	0.5703	10	0.62326	D	0.03	.	19.7964	0.96487	0.0:0.0:1.0:0.0	.	244	P27037	AVR2A_HUMAN	Q	244;136;244	ENSP00000241416:E244Q;ENSP00000439988:E136Q;ENSP00000384338:E244Q	ENSP00000241416:E244Q	E	+	1	0	ACVR2A	148391379	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.841000	0.99482	2.702000	0.92279	0.655000	0.94253	GAG	ACVR2A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.378	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	G	NM_001616		148674909	+1	no_errors	ENST00000241416	ensembl	human	known	70_37	missense	SNP	1.000	C
ADAM21	8747	genome.wustl.edu	37	14	70926378	70926378	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:70926378C>G	ENST00000603540.1	+	2	2420	c.2162C>G	c.(2161-2163)tCa>tGa	p.S721*	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Nonsense_Mutation_p.S721*	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	721					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCTCATTCATCAGGTTAAGAA	0.378																																																	0													78.0	78.0	78.0					14																	70926378		2203	4298	6501	SO:0001587	stop_gained	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.2162C>G	14.37:g.70926378C>G	ENSP00000474385:p.Ser721*	Somatic		WXS	Illumina HiSeq	Phase_IV	O43507|Q2VPC6|Q32MR0	Nonsense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.S721*	ENST00000603540.1	37	c.2162	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242677	0.79912	.	.	ENSG00000139985	ENST00000267499	.	.	.	4.72	1.91	0.25777	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999985	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	3.2042	0.06659	0.1972:0.4459:0.0:0.3569	.	.	.	.	X	721	.	ENSP00000267499:S721X	S	+	2	0	ADAM21	69996131	0.009000	0.17119	0.070000	0.20053	0.132000	0.20833	1.074000	0.30703	0.710000	0.31997	-0.140000	0.14226	TCA	ADAM21	-	NULL		0.378	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	C			70926378	+1	no_errors	ENST00000267499	ensembl	human	known	70_37	nonsense	SNP	0.000	G
ADAM9	8754	genome.wustl.edu	37	8	38874802	38874802	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:38874802G>C	ENST00000487273.2	+	6	553	c.475G>C	c.(475-477)Gag>Cag	p.E159Q	SNORD38_ENST00000384470.1_RNA	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	159					activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CTCTCATTTTGAGCACATCAT	0.388																																																	0													105.0	94.0	98.0					8																	38874802		2203	4300	6503	SO:0001583	missense	8754			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.475G>C	8.37:g.38874802G>C	ENSP00000419446:p.Glu159Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.E159Q	ENST00000487273.2	37	c.475	CCDS6112.1	8	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536210	0.64972	.	.	ENSG00000168615	ENST00000487273	T	0.06933	3.24	6.07	6.07	0.98685	Peptidase M12B, propeptide (1);	0.143085	0.64402	D	0.000007	T	0.14743	0.0356	L	0.35793	1.09	0.44055	D	0.996796	P	0.36110	0.537	P	0.50049	0.629	T	0.05386	-1.0888	10	0.33141	T	0.24	.	13.0405	0.58897	0.0756:0.0:0.9244:0.0	.	159	Q13443	ADAM9_HUMAN	Q	159	ENSP00000419446:E159Q	ENSP00000369249:E159Q	E	+	1	0	ADAM9	38993959	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	1.824000	0.39072	2.885000	0.99019	0.655000	0.94253	GAG	ADAM9	-	pfam_Peptidase_M12B_N		0.388	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM9	HGNC	protein_coding	OTTHUMT00000357291.2	G			38874802	+1	no_errors	ENST00000487273	ensembl	human	known	70_37	missense	SNP	1.000	C
ADAM9	8754	genome.wustl.edu	37	8	38874932	38874932	+	Splice_Site	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:38874932G>C	ENST00000487273.2	+	6	683	c.605G>C	c.(604-606)cGa>cCa	p.R202P	SNORD38_ENST00000384470.1_RNA	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	202					activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CAGCTACTTCGAGTAAGGAAA	0.353																																																	0													52.0	45.0	47.0					8																	38874932		2203	4300	6503	SO:0001630	splice_region_variant	8754			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.606+1G>C	8.37:g.38874932G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.R202P	ENST00000487273.2	37	c.605	CCDS6112.1	8	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403025	0.83230	.	.	ENSG00000168615	ENST00000487273	T	0.05649	3.41	5.6	5.6	0.85130	.	0.119202	0.53938	D	0.000046	T	0.11239	0.0274	N	0.08118	0	0.58432	D	0.999999	D	0.76494	0.999	D	0.76575	0.988	T	0.52290	-0.8595	10	0.24483	T	0.36	.	18.5979	0.91235	0.0:0.0:1.0:0.0	.	202	Q13443	ADAM9_HUMAN	P	202	ENSP00000419446:R202P	ENSP00000369249:R202P	R	+	2	0	ADAM9	38994089	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.442000	0.73443	2.630000	0.89119	0.591000	0.81541	CGA	ADAM9	-	NULL		0.353	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM9	HGNC	protein_coding	OTTHUMT00000357291.2	G		Missense_Mutation	38874932	+1	no_errors	ENST00000487273	ensembl	human	known	70_37	missense	SNP	1.000	C
ADAM32	203102	genome.wustl.edu	37	8	39133369	39133369	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:39133369C>G	ENST00000379907.4	+	22	2390	c.2263C>G	c.(2263-2265)Caa>Gaa	p.Q755E	ADAM32_ENST00000524303.1_3'UTR|ADAM32_ENST00000437682.2_Missense_Mutation_p.Q656E|ADAM32_ENST00000519315.1_Intron	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	755						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AAGCAGCAGTCAAGCTGATAC	0.308																																																	0													70.0	62.0	65.0					8																	39133369		1819	4061	5880	SO:0001583	missense	203102			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.2263C>G	8.37:g.39133369C>G	ENSP00000369238:p.Gln755Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TC42	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.Q755E	ENST00000379907.4	37	c.2263	CCDS47846.1	8	.	.	.	.	.	.	.	.	.	.	C	8.072	0.770483	0.15983	.	.	ENSG00000197140	ENST00000437682;ENST00000379907	D;D	0.87103	-2.21;-2.21	3.61	0.622	0.17648	.	.	.	.	.	T	0.62804	0.2458	N	0.08118	0	0.09310	N	1	B;B	0.30326	0.276;0.276	B;B	0.20577	0.03;0.03	T	0.56878	-0.7906	9	0.02654	T	1	.	2.1654	0.03835	0.2017:0.4887:0.1961:0.1135	.	656;755	E7EPX8;Q8TC27	.;ADA32_HUMAN	E	656;755	ENSP00000405978:Q656E;ENSP00000369238:Q755E	ENSP00000369238:Q755E	Q	+	1	0	ADAM32	39252526	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.010000	0.13242	0.115000	0.18071	0.552000	0.68991	CAA	ADAM32	-	NULL		0.308	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	HGNC	protein_coding	OTTHUMT00000377089.1	C	NM_145004		39133369	+1	no_errors	ENST00000379907	ensembl	human	known	70_37	missense	SNP	0.000	G
ADAMTS12	81792	genome.wustl.edu	37	5	33614445	33614445	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:33614445C>G	ENST00000504830.1	-	16	2760	c.2425G>C	c.(2425-2427)Gag>Cag	p.E809Q	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E724Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	809	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATTGTGTACTCATACTTGATG	0.473										HNSCC(64;0.19)																																							0													189.0	141.0	157.0					5																	33614445		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2425G>C	5.37:g.33614445C>G	ENSP00000422554:p.Glu809Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E809Q	ENST00000504830.1	37	c.2425	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875585	0.91664	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.55234	0.53;0.53	5.73	5.73	0.89815	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;0.972	D;P	0.87578	0.998;0.896	T	0.61431	-0.7064	10	0.14252	T	0.57	.	19.5024	0.95100	0.0:1.0:0.0:0.0	.	724;809	P58397-3;P58397	.;ATS12_HUMAN	Q	809;724	ENSP00000422554:E809Q;ENSP00000344847:E724Q	ENSP00000344847:E724Q	E	-	1	0	ADAMTS12	33650202	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.825000	0.62708	2.699000	0.92147	0.561000	0.74099	GAG	ADAMTS12	-	pfam_ADAM_spacer1		0.473	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	C	NM_030955		33614445	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	missense	SNP	1.000	G
ADAMTS12	81792	genome.wustl.edu	37	5	33881290	33881290	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:33881290G>A	ENST00000504830.1	-	2	758	c.423C>T	c.(421-423)ctC>ctT	p.L141L	ADAMTS12_ENST00000515401.1_Silent_p.L141L|ADAMTS12_ENST00000352040.3_Silent_p.L141L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	141					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCGTGCCACTGAGATGGCAGA	0.547										HNSCC(64;0.19)																																							0													61.0	61.0	61.0					5																	33881290		2203	4300	6503	SO:0001819	synonymous_variant	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.423C>T	5.37:g.33881290G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.L141	ENST00000504830.1	37	c.423	CCDS34140.1	5																																																																																			ADAMTS12	-	pfam_Peptidase_M12B_N		0.547	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	G	NM_030955		33881290	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	silent	SNP	0.920	A
ADAMTS15	170689	genome.wustl.edu	37	11	130319206	130319206	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:130319206C>G	ENST00000299164.2	+	1	338	c.338C>G	c.(337-339)tCg>tGg	p.S113W		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	113						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GAGCCGGACTCGTTCGCTGCT	0.677																																																	0													34.0	42.0	40.0					11																	130319206		2199	4295	6494	SO:0001583	missense	170689			AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.338C>G	11.37:g.130319206C>G	ENSP00000299164:p.Ser113Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32MI6	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8	p.S113W	ENST00000299164.2	37	c.338	CCDS8488.1	11	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587367	0.86851	.	.	ENSG00000166106	ENST00000299164	T	0.13657	2.57	4.63	4.63	0.57726	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.41534	0.1163	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.43180	-0.9407	9	0.87932	D	0	.	17.6177	0.88072	0.0:1.0:0.0:0.0	.	113	Q8TE58	ATS15_HUMAN	W	113	ENSP00000299164:S113W	ENSP00000299164:S113W	S	+	2	0	ADAMTS15	129824416	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.398000	0.79919	2.550000	0.86006	0.561000	0.74099	TCG	ADAMTS15	-	pfam_Peptidase_M12B_N		0.677	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS15	HGNC	protein_coding	OTTHUMT00000385638.1	C	NM_139055		130319206	+1	no_errors	ENST00000299164	ensembl	human	known	70_37	missense	SNP	1.000	G
ADAMTS17	170691	genome.wustl.edu	37	15	100594105	100594105	+	Missense_Mutation	SNP	C	C	G	rs577389531		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:100594105C>G	ENST00000268070.4	-	16	2397	c.2292G>C	c.(2290-2292)ttG>ttC	p.L764F		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	764	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AAGTTACCATCAAGTGCAGCG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18601	0.001		0.0	False		,,,				2504	0.0																0													299.0	285.0	290.0					15																	100594105		2203	4300	6503	SO:0001583	missense	170691			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2292G>C	15.37:g.100594105C>G	ENSP00000268070:p.Leu764Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.L764F	ENST00000268070.4	37	c.2292	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739927	0.49045	.	.	ENSG00000140470	ENST00000268070	T	0.57436	0.4	5.9	3.98	0.46160	ADAM-TS Spacer 1 (1);	0.000000	0.56097	D	0.000028	T	0.56906	0.2017	L	0.39020	1.185	0.58432	D	0.999999	D	0.56968	0.978	D	0.63283	0.913	T	0.52313	-0.8592	10	0.36615	T	0.2	.	10.0639	0.42292	0.0:0.672:0.2597:0.0683	.	764	Q8TE56	ATS17_HUMAN	F	764	ENSP00000268070:L764F	ENSP00000268070:L764F	L	-	3	2	ADAMTS17	98411628	0.999000	0.42202	0.973000	0.42090	0.354000	0.29330	0.567000	0.23608	0.797000	0.33971	0.655000	0.94253	TTG	ADAMTS17	-	pfam_ADAM_spacer1		0.552	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	HGNC	protein_coding	OTTHUMT00000313595.1	C	NM_139057		100594105	-1	no_errors	ENST00000268070	ensembl	human	known	70_37	missense	SNP	1.000	G
ADAMTS19	171019	genome.wustl.edu	37	5	128887591	128887591	+	Missense_Mutation	SNP	G	G	A	rs150064942	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:128887591G>A	ENST00000274487.4	+	7	1490	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	449	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGAACCATGTGATACTGTTGG	0.308													G|||	2	0.000399361	0.0	0.0	5008	,	,		15268	0.0		0.002	False		,,,				2504	0.0																0								G	ASN/ASP	0,4404		0,0,2202	58.0	59.0	58.0		1345	3.8	1.0	5	dbSNP_134	58	4,8578	3.7+/-12.6	0,4,4287	yes	missense	ADAMTS19	NM_133638.3	23	0,4,6489	AA,AG,GG		0.0466,0.0,0.0308	probably-damaging	449/1208	128887591	4,12982	2202	4291	6493	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1345G>A	5.37:g.128887591G>A	ENSP00000274487:p.Asp449Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D449N	ENST00000274487.4	37	c.1345	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126658	0.77549	0.0	4.66E-4	ENSG00000145808	ENST00000274487	D	0.86230	-2.09	3.83	3.83	0.44106	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000004	D	0.90181	0.6931	L	0.42686	1.345	0.47407	D	0.999419	D	0.89917	1.0	D	0.87578	0.998	D	0.89168	0.3535	9	.	.	.	.	15.6928	0.77469	0.0:0.0:1.0:0.0	.	449	Q8TE59	ATS19_HUMAN	N	449	ENSP00000274487:D449N	.	D	+	1	0	ADAMTS19	128915490	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.259000	0.72494	2.432000	0.82394	0.591000	0.81541	GAT	ADAMTS19	-	pfam_Peptidase_M12B,pfam_Pept_M10_metallopeptidase,pfscan_Peptidase_M12B		0.308	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	G	NM_133638		128887591	+1	no_errors	ENST00000274487	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAMTS19	171019	genome.wustl.edu	37	5	129037283	129037283	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:129037283G>A	ENST00000274487.4	+	20	3284	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1047	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGTGTGGTCTGAGGTGCATAC	0.557																																																	0													60.0	56.0	58.0					5																	129037283		2203	4300	6503	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3139G>A	5.37:g.129037283G>A	ENSP00000274487:p.Glu1047Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E1047K	ENST00000274487.4	37	c.3139	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	G	15.71	2.915117	0.52546	.	.	ENSG00000145808	ENST00000274487	T	0.54279	0.58	3.86	3.86	0.44501	.	0.081952	0.48286	D	0.000198	T	0.40119	0.1104	N	0.20304	0.555	0.53688	D	0.999976	B	0.21688	0.059	B	0.29353	0.101	T	0.19976	-1.0289	9	.	.	.	.	17.1013	0.86651	0.0:0.0:1.0:0.0	.	1047	Q8TE59	ATS19_HUMAN	K	1047	ENSP00000274487:E1047K	.	E	+	1	0	ADAMTS19	129065182	0.999000	0.42202	0.998000	0.56505	0.870000	0.49936	2.804000	0.47931	2.438000	0.82558	0.650000	0.86243	GAG	ADAMTS19	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.557	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	G	NM_133638		129037283	+1	no_errors	ENST00000274487	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAMTS20	80070	genome.wustl.edu	37	12	43840473	43840473	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:43840473C>G	ENST00000389420.3	-	15	2121	c.2122G>C	c.(2122-2124)Gac>Cac	p.D708H	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D708H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	708	Cys-rich.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCACATTTGTCTATCTTGGCA	0.373																																																	0													193.0	167.0	176.0					12																	43840473		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2122G>C	12.37:g.43840473C>G	ENSP00000374071:p.Asp708His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D708H	ENST00000389420.3	37	c.2122	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158323	0.78114	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.76839	-1.05;-1.05	5.07	5.07	0.68467	.	0.000000	0.53938	D	0.000050	D	0.93481	0.7920	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95827	0.8855	10	0.87932	D	0	.	19.3353	0.94314	0.0:1.0:0.0:0.0	.	708	P59510	ATS20_HUMAN	H	708	ENSP00000374071:D708H;ENSP00000448341:D708H	ENSP00000374068:D708H	D	-	1	0	ADAMTS20	42126740	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	7.445000	0.80570	2.750000	0.94351	0.563000	0.77884	GAC	ADAMTS20	-	prints_Peptidase_M12B_ADAM-TS		0.373	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	C	NM_025003		43840473	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	missense	SNP	1.000	G
ADAMTS6	11174	genome.wustl.edu	37	5	64511297	64511297	+	IGR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:64511297C>G								ADAMTS6 (16705 upstream) : ADAMTS6 (81737 downstream)																							TAGTAATCATCTCCTTCAGAT	0.338																																																	0													72.0	71.0	72.0					5																	64511297		2203	4300	6503	SO:0001628	intergenic_variant	11174																															5.37:g.64511297C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D764H		37	c.2290		5	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001609	0.54254	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680	T;T	0.54279	0.58;0.58	5.79	4.92	0.64577	ADAM-TS Spacer 1 (1);	0.099159	0.64402	D	0.000002	T	0.69242	0.3089	M	0.68952	2.095	0.80722	D	1	D;P	0.53619	0.961;0.93	D;P	0.64687	0.928;0.897	T	0.72978	-0.4127	10	0.72032	D	0.01	.	15.0054	0.71507	0.0:0.9318:0.0:0.0682	.	764;764	D6R9L6;Q9UKP5	.;ATS6_HUMAN	H	764;714;764	ENSP00000370443:D764H;ENSP00000423551:D764H	ENSP00000261306:D714H	D	-	1	0	ADAMTS6	64547053	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	7.354000	0.79424	1.459000	0.47892	0.655000	0.94253	GAT	ADAMTS6	-	pfam_ADAM_spacer1	0	0.338					ADAMTS6	HGNC			C			64511297	-1	no_errors	ENST00000381055	ensembl	human	known	70_37	missense	SNP	1.000	G
ADAMTS6	11174	genome.wustl.edu	37	5	64625257	64625257	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:64625257C>T	ENST00000536360.1	-	9	1984	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	391	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CCAATGTCTTCATTAATGCTG	0.428																																																	0													93.0	82.0	86.0					5																	64625257		2203	4300	6503	SO:0001583	missense	11174			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.1171G>A	5.37:g.64625257C>T	ENSP00000440995:p.Glu391Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E391K	ENST00000536360.1	37	c.1171		5	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685726	0.88639	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	D;D;D	0.87571	-2.27;-2.27;-2.27	5.89	5.89	0.94794	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.92004	0.7467	L	0.51422	1.61	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.70227	0.968;0.968	D	0.91965	0.5582	10	0.72032	D	0.01	.	19.8311	0.96636	0.0:1.0:0.0:0.0	.	391;391	D6R9L6;Q9UKP5	.;ATS6_HUMAN	K	391	ENSP00000370443:E391K;ENSP00000423551:E391K;ENSP00000440995:E391K	ENSP00000261306:E391K	E	-	1	0	ADAMTS6	64661013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.463000	0.80869	2.791000	0.96007	0.591000	0.81541	GAA	ADAMTS6	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.428	ADAMTS6-201	KNOWN	basic	protein_coding	ADAMTS6	HGNC	protein_coding		C	NM_197941		64625257	-1	no_errors	ENST00000381055	ensembl	human	known	70_37	missense	SNP	1.000	T
ADARB1	104	genome.wustl.edu	37	21	46596439	46596439	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:46596439G>C	ENST00000360697.3	+	2	838	c.823G>C	c.(823-825)Gaa>Caa	p.E275Q	ADARB1_ENST00000348831.4_Missense_Mutation_p.E275Q|ADARB1_ENST00000389863.4_Missense_Mutation_p.E275Q|ADARB1_ENST00000539173.1_Missense_Mutation_p.E275Q|ADARB1_ENST00000437626.1_Intron			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	275	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TCAGTTCTTTGAAGGCTCGGG	0.577																																																	0													75.0	75.0	75.0					21																	46596439		2203	4300	6503	SO:0001583	missense	104			U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.823G>C	21.37:g.46596439G>C	ENSP00000353920:p.Glu275Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,superfamily_Cytokine_IL1-like,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.E275Q	ENST00000360697.3	37	c.823	CCDS33589.1	21	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488331	0.64074	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.28	5.28	0.74379	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.050496	0.85682	D	0.000000	T	0.69753	0.3146	L	0.31476	0.935	0.80722	D	1	B;B;B;B;B	0.31459	0.136;0.046;0.012;0.01;0.324	B;B;B;B;B	0.39299	0.096;0.11;0.04;0.026;0.296	T	0.68368	-0.5427	10	0.40728	T	0.16	-28.6091	16.7859	0.85574	0.0:0.0:1.0:0.0	.	302;275;275;303;275	P78563-4;P78563;Q4AE77;G5E9B4;P78563-3	.;RED1_HUMAN;.;.;.	Q	275	ENSP00000441897:E275Q;ENSP00000374513:E275Q;ENSP00000015877:E275Q;ENSP00000353920:E275Q	ENSP00000015877:E275Q	E	+	1	0	ADARB1	45420867	1.000000	0.71417	0.504000	0.27639	0.976000	0.68499	6.043000	0.71004	2.633000	0.89246	0.655000	0.94253	GAA	ADARB1	-	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd		0.577	ADARB1-004	KNOWN	basic|CCDS	protein_coding	ADARB1	HGNC	protein_coding	OTTHUMT00000206648.2	G	NM_015833		46596439	+1	no_errors	ENST00000360697	ensembl	human	known	70_37	missense	SNP	1.000	C
ADCK1	57143	genome.wustl.edu	37	14	78365500	78365500	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:78365500G>A	ENST00000238561.5	+	6	739	c.640G>A	c.(640-642)Gat>Aat	p.D214N	ADCK1_ENST00000341211.5_Missense_Mutation_p.D146N	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	221	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GTGGCTTGTGGATGAAGCCAA	0.488																																																	0													171.0	147.0	155.0					14																	78365500		2203	4300	6503	SO:0001583	missense	57143			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.640G>A	14.37:g.78365500G>A	ENSP00000238561:p.Asp214Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom	p.D214N	ENST00000238561.5	37	c.640	CCDS9869.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.690806	0.96793	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.56611	0.45;0.45;0.45	5.53	5.53	0.82687	.	0.146104	0.64402	D	0.000012	T	0.71099	0.3300	M	0.72624	2.21	0.80722	D	1	D;P	0.53885	0.963;0.846	P;P	0.62740	0.906;0.508	T	0.69198	-0.5208	10	0.40728	T	0.16	-5.9424	19.4736	0.94973	0.0:0.0:1.0:0.0	.	146;214	Q9UIE6;Q86TW2-2	.;.	N	214;214;146	ENSP00000238561:D214N;ENSP00000451549:D214N;ENSP00000339663:D146N	ENSP00000238561:D214N	D	+	1	0	ADCK1	77435253	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.768000	0.98965	2.596000	0.87737	0.591000	0.81541	GAT	ADCK1	-	pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom		0.488	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK1	HGNC	protein_coding	OTTHUMT00000413864.1	G	NM_020421		78365500	+1	no_errors	ENST00000238561	ensembl	human	known	70_37	missense	SNP	1.000	A
ADCK1	57143	genome.wustl.edu	37	14	78365503	78365503	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:78365503G>A	ENST00000238561.5	+	6	742	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	ADCK1_ENST00000341211.5_Missense_Mutation_p.E147K	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	222	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GCTTGTGGATGAAGCCAAGAA	0.498																																																	0													169.0	146.0	154.0					14																	78365503		2203	4300	6503	SO:0001583	missense	57143			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.643G>A	14.37:g.78365503G>A	ENSP00000238561:p.Glu215Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom	p.E215K	ENST00000238561.5	37	c.643	CCDS9869.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.560629	0.96527	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.58506	0.7;0.33;0.7	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.87426	0.6174	H	0.99535	4.615	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.99;0.99	D	0.92447	0.5967	10	0.59425	D	0.04	-3.37	19.4736	0.94973	0.0:0.0:1.0:0.0	.	147;215	Q9UIE6;Q86TW2-2	.;.	K	215;215;147	ENSP00000238561:E215K;ENSP00000451549:E215K;ENSP00000339663:E147K	ENSP00000238561:E215K	E	+	1	0	ADCK1	77435256	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.768000	0.98965	2.596000	0.87737	0.591000	0.81541	GAA	ADCK1	-	pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom		0.498	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK1	HGNC	protein_coding	OTTHUMT00000413864.1	G	NM_020421		78365503	+1	no_errors	ENST00000238561	ensembl	human	known	70_37	missense	SNP	1.000	A
ADCY2	108	genome.wustl.edu	37	5	7802394	7802394	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:7802394G>C	ENST00000338316.4	+	21	2781	c.2692G>C	c.(2692-2694)Gaa>Caa	p.E898Q	ADCY2_ENST00000537121.1_Missense_Mutation_p.E718Q	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	898					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGATTTCAAAGAATTTTATAC	0.478																																																	0													81.0	82.0	81.0					5																	7802394		2203	4300	6503	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2692G>C	5.37:g.7802394G>C	ENSP00000342952:p.Glu898Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E898Q	ENST00000338316.4	37	c.2692	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199024	0.79015	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.30714	1.52;1.52	5.24	5.24	0.73138	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	L	0.59967	1.855	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.987	T	0.51482	-0.8700	10	0.48119	T	0.1	.	18.8415	0.92186	0.0:0.0:1.0:0.0	.	718;898	B7Z2C1;Q08462	.;ADCY2_HUMAN	Q	898;51;731;718	ENSP00000342952:E898Q;ENSP00000444803:E718Q	ENSP00000342952:E898Q	E	+	1	0	ADCY2	7855394	1.000000	0.71417	0.564000	0.28396	0.562000	0.35680	9.506000	0.97992	2.447000	0.82792	0.591000	0.81541	GAA	ADCY2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.478	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	G	NM_020546		7802394	+1	no_errors	ENST00000338316	ensembl	human	known	70_37	missense	SNP	1.000	C
ADCY8	114	genome.wustl.edu	37	8	131880181	131880181	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:131880181C>G	ENST00000286355.5	-	9	4213	c.2121G>C	c.(2119-2121)atG>atC	p.M707I	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	707					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTTCATCCCTCATTTGAGAAT	0.358										HNSCC(32;0.087)																																							0													79.0	73.0	75.0					8																	131880181		2203	4300	6503	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2121G>C	8.37:g.131880181C>G	ENSP00000286355:p.Met707Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.M707I	ENST00000286355.5	37	c.2121	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686848	0.68157	.	.	ENSG00000155897	ENST00000286355	T	0.42900	0.96	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	L	0.39898	1.24	0.80722	D	1	P	0.39624	0.681	B	0.43950	0.437	T	0.07790	-1.0754	10	0.25106	T	0.35	.	17.776	0.88508	0.0:1.0:0.0:0.0	.	707	P40145	ADCY8_HUMAN	I	707	ENSP00000286355:M707I	ENSP00000286355:M707I	M	-	3	0	ADCY8	131949363	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.407000	0.66363	2.806000	0.96561	0.655000	0.94253	ATG	ADCY8	-	pfam_Adenylate_cyclase-like		0.358	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	C			131880181	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	missense	SNP	1.000	G
ADCYAP1R1	117	genome.wustl.edu	37	7	31121330	31121330	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:31121330G>A	ENST00000304166.4	+	6	578	c.289G>A	c.(289-291)Gag>Aag	p.E97K	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.E97K|ADCYAP1R1_ENST00000409363.1_Intron|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.E97K	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	97					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TTTTTCAGGAGAGTCTGATTT	0.498																																					Ovarian(44;225 1186 2158 11092)												0													161.0	141.0	148.0					7																	31121330		2203	4300	6503	SO:0001583	missense	117				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.289G>A	7.37:g.31121330G>A	ENSP00000306620:p.Glu97Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like	p.E97K	ENST00000304166.4	37	c.289	CCDS5433.1	7	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027407	0.35797	.	.	ENSG00000078549	ENST00000304166;ENST00000396211;ENST00000409489	T;T;T	0.47528	1.17;0.85;0.84	4.7	4.7	0.59300	GPCR, family 2, extracellular hormone receptor domain (3);	0.713563	0.13929	N	0.353003	T	0.37348	0.1000	L	0.29908	0.895	0.26644	N	0.972236	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.001	T	0.14035	-1.0487	10	0.37606	T	0.19	.	13.3454	0.60571	0.0:0.0:1.0:0.0	.	97;97;97;97	B7ZLA7;Q17S10;E9PFU5;P41586	.;.;.;PACR_HUMAN	K	97	ENSP00000306620:E97K;ENSP00000379514:E97K;ENSP00000386395:E97K	ENSP00000306620:E97K	E	+	1	0	ADCYAP1R1	31087855	0.947000	0.32204	0.780000	0.31762	0.963000	0.63663	1.638000	0.37165	2.595000	0.87683	0.655000	0.94253	GAG	ADCYAP1R1	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_PACAP_1_rcpt		0.498	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADCYAP1R1	HGNC	protein_coding	OTTHUMT00000215041.3	G	NM_001118		31121330	+1	no_errors	ENST00000304166	ensembl	human	known	70_37	missense	SNP	0.733	A
ADD2	119	genome.wustl.edu	37	2	70904899	70904899	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:70904899C>A	ENST00000264436.4	-	12	1938	c.1494G>T	c.(1492-1494)atG>atT	p.M498I	ADD2_ENST00000407644.2_Missense_Mutation_p.M498I|ADD2_ENST00000413157.2_Missense_Mutation_p.M498I|ADD2_ENST00000430656.1_Missense_Mutation_p.M514I|ADD2_ENST00000355733.3_Missense_Mutation_p.M498I	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	498					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCTTGTTCCTCATCTCCAGTA	0.527																																																	0													122.0	101.0	108.0					2																	70904899		2203	4300	6503	SO:0001583	missense	119			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1494G>T	2.37:g.70904899C>A	ENSP00000264436:p.Met498Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.M498I	ENST00000264436.4	37	c.1494	CCDS1906.1	2	.	.	.	.	.	.	.	.	.	.	C	6.895	0.534661	0.13188	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	5.4	5.4	0.78164	.	0.043635	0.85682	D	0.000000	T	0.12092	0.0294	N	0.11756	0.17	0.28015	N	0.934758	B;B;B;B;B;B	0.33883	0.243;0.021;0.144;0.243;0.012;0.43	B;B;B;B;B;B	0.32762	0.065;0.01;0.062;0.09;0.008;0.152	T	0.11275	-1.0594	10	0.59425	D	0.04	-32.7919	9.9722	0.41761	0.0:0.9108:0.0:0.0892	.	514;498;192;498;498;498	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	I	498;498;498;192;498;192;498;514	ENSP00000264436:M498I;ENSP00000384677:M498I;ENSP00000347972:M498I;ENSP00000430243:M192I;ENSP00000388072:M498I;ENSP00000398112:M514I	ENSP00000264436:M498I	M	-	3	0	ADD2	70758407	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.547000	0.36190	2.809000	0.96659	0.655000	0.94253	ATG	ADD2	-	NULL		0.527	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	C	NM_001617		70904899	-1	no_errors	ENST00000264436	ensembl	human	known	70_37	missense	SNP	0.999	A
ADRBK1	156	genome.wustl.edu	37	11	67049187	67049187	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:67049187G>C	ENST00000308595.5	+	10	1104	c.814G>C	c.(814-816)Gac>Cac	p.D272H	ADRBK1_ENST00000526285.1_Missense_Mutation_p.D272H	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CTTCATCCTGGACCTCATGAA	0.652																																																	0													87.0	78.0	81.0					11																	67049187		2200	4295	6495	SO:0001583	missense	156			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.814G>C	11.37:g.67049187G>C	ENSP00000312262:p.Asp272His	Somatic		WXS	Illumina HiSeq	Phase_IV	B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.D272H	ENST00000308595.5	37	c.814	CCDS8156.1	11	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025266	0.54683	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.27402	1.67;1.67	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000017	T	0.62146	0.2404	M	0.84511	2.7	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69202	-0.5207	10	0.87932	D	0	-6.1183	18.674	0.91523	0.0:0.0:1.0:0.0	.	272;272	P25098;E9PRV7	ARBK1_HUMAN;.	H	272	ENSP00000312262:D272H;ENSP00000434126:D272H	ENSP00000312262:D272H	D	+	1	0	ADRBK1	66805763	1.000000	0.71417	0.604000	0.28916	0.035000	0.12851	8.894000	0.92506	2.493000	0.84123	0.591000	0.81541	GAC	ADRBK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.652	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1	G	NM_001619		67049187	+1	no_errors	ENST00000308595	ensembl	human	known	70_37	missense	SNP	1.000	C
AFG3L2	10939	genome.wustl.edu	37	18	12353040	12353040	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:12353040C>G	ENST00000269143.3	-	10	1513	c.1282G>C	c.(1282-1284)Gag>Cag	p.E428Q		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	428					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AGTGTGTTCTCCTGCTCACTC	0.483																																																	0													241.0	186.0	205.0					18																	12353040		2203	4300	6503	SO:0001583	missense	10939			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1282G>C	18.37:g.12353040C>G	ENSP00000269143:p.Glu428Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P1L0	Missense_Mutation	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,smart_AAA+_ATPase,tigrfam_FtsH	p.E428Q	ENST00000269143.3	37	c.1282	CCDS11859.1	18	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851797	0.91355	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.93133	-3.17	5.14	5.14	0.70334	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.94827	0.8329	L	0.38953	1.18	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	D	0.95491	0.8569	10	0.87932	D	0	-0.5005	18.9525	0.92645	0.0:1.0:0.0:0.0	.	428	Q9Y4W6	AFG32_HUMAN	Q	428;443	ENSP00000269143:E428Q	ENSP00000269143:E428Q	E	-	1	0	AFG3L2	12343040	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.651000	0.83577	2.570000	0.86706	0.650000	0.86243	GAG	AFG3L2	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_FtsH		0.483	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFG3L2	HGNC	protein_coding	OTTHUMT00000254603.2	C	NM_006796		12353040	-1	no_errors	ENST00000269143	ensembl	human	known	70_37	missense	SNP	1.000	G
AFTPH	54812	genome.wustl.edu	37	2	64779560	64779560	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:64779560C>G	ENST00000422803.1	+	2	1266	c.952C>G	c.(952-954)Cca>Gca	p.P318A	AFTPH_ENST00000238855.7_Missense_Mutation_p.P318A|AFTPH_ENST00000409933.1_Missense_Mutation_p.P318A|AFTPH_ENST00000238856.4_Missense_Mutation_p.P318A|AFTPH_ENST00000409183.1_5'Flank			Q6ULP2	AFTIN_HUMAN	aftiphilin	318					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ACAAGGCCTTCCAACACTGCA	0.413																																																	0													89.0	93.0	91.0					2																	64779560		2203	4300	6503	SO:0001583	missense	54812			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.952C>G	2.37:g.64779560C>G	ENSP00000397726:p.Pro318Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	NULL	p.P318A	ENST00000422803.1	37	c.952		2	.	.	.	.	.	.	.	.	.	.	C	0.252	-1.006094	0.02112	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.77	-1.79	0.07932	.	1.156670	0.06107	N	0.666435	T	0.12008	0.0292	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.19706	0.001;0.001;0.038;0.038	B;B;B;B	0.21708	0.0;0.0;0.022;0.036	T	0.34700	-0.9818	10	0.24483	T	0.36	6.1471	1.7514	0.02973	0.3195:0.1397:0.3688:0.1719	.	318;318;318;318	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	A	318	ENSP00000238856:P318A;ENSP00000397726:P318A;ENSP00000238855:P318A;ENSP00000387071:P318A	ENSP00000238855:P318A	P	+	1	0	AFTPH	64633064	0.035000	0.19736	0.000000	0.03702	0.764000	0.43329	-0.038000	0.12144	-0.148000	0.11234	-1.078000	0.02229	CCA	AFTPH	-	NULL		0.413	AFTPH-202	KNOWN	basic	protein_coding	AFTPH	HGNC	protein_coding		C	NM_017657		64779560	+1	no_errors	ENST00000422803	ensembl	human	known	70_37	missense	SNP	0.001	G
AGAP11	119385	genome.wustl.edu	37	10	88768653	88768653	+	RNA	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:88768653C>T	ENST00000444431.1	+	0	3253				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										TCAGCCAATTCAGACATCGGG	0.557																																																	0													96.0	105.0	102.0					10																	88768653		2203	4300	6503			119385					10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768653C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIP7|D3DWE4	RNA	SNP	-	NULL	ENST00000444431.1	37	NULL		10																																																																																			AGAP11	-	-		0.557	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	AGAP11	HGNC	processed_transcript	OTTHUMT00000049193.1	C	NM_133447		88768653	+1	no_errors	ENST00000433214	ensembl	human	known	70_37	rna	SNP	0.988	T
AGR2	10551	genome.wustl.edu	37	7	16840805	16840805	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:16840805G>C	ENST00000419304.2	-	4	378	c.226C>G	c.(226-228)Cat>Gat	p.H76D	AGR2_ENST00000486219.1_5'Flank|AGR2_ENST00000419572.2_Missense_Mutation_p.H96D|AGR2_ENST00000401412.1_Missense_Mutation_p.H76D	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	76					lung goblet cell differentiation (GO:0060480)|mucus secretion (GO:0070254)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	dystroglycan binding (GO:0002162)			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TCCAAGTGATGAATAATCATC	0.368																																																	0													87.0	89.0	89.0					7																	16840805		2203	4300	6503	SO:0001583	missense	10551			AF038451	CCDS5364.1	7p21.3	2013-07-31	2013-07-31		ENSG00000106541	ENSG00000106541		"""Protein disulfide isomerases"""	328	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 17"""	606358	"""anterior gradient 2 homolog (Xenopus laevis)"""			9790916	Standard	NM_006408		Approved	XAG-2, HAG-2, AG2, PDIA17	uc003str.3	O95994	OTTHUMG00000023446	ENST00000419304.2:c.226C>G	7.37:g.16840805G>C	ENSP00000391490:p.His76Asp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_Thioredoxin-like_fold	p.H96D	ENST00000419304.2	37	c.286	CCDS5364.1	7	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624762	0.66901	.	.	ENSG00000106541	ENST00000419304;ENST00000450569;ENST00000419572;ENST00000401412;ENST00000412973	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.5	5.5	0.81552	Thioredoxin-like fold (2);	0.157772	0.56097	D	0.000027	T	0.70850	0.3271	M	0.84683	2.71	0.42362	D	0.992414	P	0.45348	0.856	D	0.71184	0.972	T	0.74674	-0.3586	10	0.87932	D	0	-21.5719	19.001	0.92834	0.0:0.0:1.0:0.0	.	76	O95994	AGR2_HUMAN	D	76;6;96;76;76	ENSP00000391490:H76D;ENSP00000388342:H96D;ENSP00000386025:H76D;ENSP00000411969:H76D	ENSP00000386025:H76D	H	-	1	0	AGR2	16807330	1.000000	0.71417	0.991000	0.47740	0.839000	0.47603	6.847000	0.75404	2.591000	0.87537	0.655000	0.94253	CAT	AGR2	-	superfamily_Thioredoxin-like_fold		0.368	AGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGR2	HGNC	protein_coding	OTTHUMT00000207594.2	G	NM_006408		16840805	-1	no_errors	ENST00000419572	ensembl	human	known	70_37	missense	SNP	0.999	C
ETNPPL	64850	genome.wustl.edu	37	4	109670544	109670544	+	Missense_Mutation	SNP	G	G	C	rs575843452		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:109670544G>C	ENST00000296486.3	-	8	931	c.777C>G	c.(775-777)ttC>ttG	p.F259L	ETNPPL_ENST00000411864.2_Missense_Mutation_p.F253L|ETNPPL_ENST00000512646.1_Missense_Mutation_p.F201L|ETNPPL_ENST00000510706.1_Missense_Mutation_p.F219L	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	259						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										GGAAGCTCCAGAAATGTTTCC	0.488																																																	0													123.0	126.0	125.0					4																	109670544		2203	4300	6503	SO:0001583	missense	64850			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.777C>G	4.37:g.109670544G>C	ENSP00000296486:p.Phe259Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom	p.F259L	ENST00000296486.3	37	c.777	CCDS3682.1	4	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231844	0.79688	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.62	2.52	0.30459	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.86698	0.5995	L	0.52206	1.635	0.54753	D	0.999989	P;P;D	0.59767	0.828;0.684;0.986	P;P;P	0.61328	0.737;0.666;0.887	D	0.84040	0.0364	9	.	.	.	-21.5758	9.4178	0.38532	0.3981:0.0:0.6019:0.0	.	201;253;259	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	L	259;253;201;219	ENSP00000296486:F259L;ENSP00000392269:F253L;ENSP00000427065:F201L;ENSP00000423240:F219L	.	F	-	3	2	AGXT2L1	109889993	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	2.022000	0.41030	0.706000	0.31912	0.650000	0.86243	TTC	AGXT2L1	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom		0.488	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGXT2L1	HGNC	protein_coding	OTTHUMT00000363508.1	G	NM_031279		109670544	-1	no_errors	ENST00000296486	ensembl	human	known	70_37	missense	SNP	1.000	C
AHDC1	27245	genome.wustl.edu	37	1	27861137	27861137	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:27861137C>T	ENST00000247087.5	-	0	5742				AHDC1_ENST00000374011.2_3'UTR			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1								DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTCGCAACCTCTTGCACACGc	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	27245			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.*334G>A	1.37:g.27861137C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	RNA	SNP	-	NULL	ENST00000247087.5	37	NULL	CCDS30652.1	1																																																																																			AHDC1	-	-		0.393	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	C			27861137	-1	no_errors	ENST00000482400	ensembl	human	known	70_37	rna	SNP	1.000	T
AHI1	54806	genome.wustl.edu	37	6	135769614	135769614	+	Splice_Site	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:135769614C>G	ENST00000367800.4	-	10	1657		c.e10-1		AHI1_ENST00000327035.6_Splice_Site|AHI1_ENST00000457866.2_Splice_Site	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1						cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTCCCAGAAGCTTAAAATAAG	0.323																																																	0													71.0	69.0	70.0					6																	135769614		1814	4071	5885	SO:0001630	splice_region_variant	54806			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.1441-1G>C	6.37:g.135769614C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Splice_Site	SNP	-	e9-1	ENST00000367800.4	37	c.1441-1	CCDS47483.1	6	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916794	0.73098	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0308	0.97536	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AHI1	135811307	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.456000	0.80751	2.732000	0.93576	0.585000	0.79938	.	AHI1	-	-		0.323	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	AHI1	HGNC	protein_coding	OTTHUMT00000391948.1	C	NM_017651	Intron	135769614	-1	no_errors	ENST00000265602	ensembl	human	known	70_37	splice_site	SNP	1.000	G
AHNAK2	113146	genome.wustl.edu	37	14	105413636	105413636	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:105413636C>G	ENST00000333244.5	-	7	8271	c.8152G>C	c.(8152-8154)Gag>Cag	p.E2718Q	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2718						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACGTGGCCCTCTGGGAGTTTC	0.617																																																	0													124.0	136.0	132.0					14																	105413636		1913	4119	6032	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8152G>C	14.37:g.105413636C>G	ENSP00000353114:p.Glu2718Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E2718Q	ENST00000333244.5	37	c.8152	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	10.54	1.377916	0.24944	.	.	ENSG00000185567	ENST00000333244	T	0.00882	5.58	3.48	1.55	0.23275	.	.	.	.	.	T	0.02119	0.0066	M	0.82132	2.575	0.09310	N	1	P	0.38729	0.644	B	0.43623	0.425	T	0.37454	-0.9705	9	0.29301	T	0.29	.	6.7602	0.23536	0.0:0.6826:0.0:0.3173	.	2718	Q8IVF2	AHNK2_HUMAN	Q	2718	ENSP00000353114:E2718Q	ENSP00000353114:E2718Q	E	-	1	0	AHNAK2	104484681	0.581000	0.26741	0.001000	0.08648	0.019000	0.09904	0.878000	0.28126	0.012000	0.14892	0.313000	0.20887	GAG	AHNAK2	-	NULL		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105413636	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.001	G
AHRR	57491	genome.wustl.edu	37	5	428077	428077	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:428077G>C	ENST00000505113.1	+	8	920	c.876G>C	c.(874-876)ctG>ctC	p.L292L	AHRR_ENST00000316418.5_Silent_p.L310L|AHRR_ENST00000506456.1_Silent_p.L148L|AHRR_ENST00000512529.1_Silent_p.L138L	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	292					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCGCGCTCCTGAGGGCAAAAC	0.637																																																	0													25.0	30.0	28.0					5																	428077		2028	4177	6205	SO:0001819	synonymous_variant	57491			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.876G>C	5.37:g.428077G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom	p.L310	ENST00000505113.1	37	c.930	CCDS56355.1	5																																																																																			AHRR	-	NULL		0.637	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	AHRR	HGNC	protein_coding	OTTHUMT00000367720.1	G	NM_020731		428077	+1	no_errors	ENST00000316418	ensembl	human	known	70_37	silent	SNP	0.721	C
AHSA1	10598	genome.wustl.edu	37	14	77929015	77929015	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:77929015G>A	ENST00000216479.3	+	4	545	c.385G>A	c.(385-387)Gac>Aac	p.D129N	AHSA1_ENST00000555457.1_Intron|AHSA1_ENST00000535854.2_Missense_Mutation_p.D129N	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	129					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGATGAGCCTGACACAAATCT	0.458																																																	0													125.0	116.0	119.0					14																	77929015		2203	4300	6503	SO:0001583	missense	10598			AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"""chromosome 14 open reading frame 3"""	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.385G>A	14.37:g.77929015G>A	ENSP00000216479:p.Asp129Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP	pfam_AHSA1_N,pfam_Activator_of_Hsp90_ATPase,superfamily_AHSA1_N	p.D129N	ENST00000216479.3	37	c.385	CCDS9863.1	14	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861833	0.71949	.	.	ENSG00000100591	ENST00000216479;ENST00000535854	.	.	.	5.61	5.61	0.85477	Activator of Hsp90 ATPase, N-terminal (2);	0.131263	0.64402	D	0.000001	T	0.55386	0.1917	L	0.31664	0.95	0.80722	D	1	B;B	0.20459	0.045;0.026	B;B	0.27608	0.081;0.027	T	0.47522	-0.9111	9	0.28530	T	0.3	-30.8331	19.6154	0.95632	0.0:0.0:1.0:0.0	.	129;129	B4DUR9;O95433	.;AHSA1_HUMAN	N	129	.	ENSP00000216479:D129N	D	+	1	0	AHSA1	76998768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.457000	0.80775	2.629000	0.89072	0.557000	0.71058	GAC	AHSA1	-	pfam_AHSA1_N,superfamily_AHSA1_N		0.458	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHSA1	HGNC	protein_coding	OTTHUMT00000414017.1	G	NM_012111		77929015	+1	no_errors	ENST00000216479	ensembl	human	known	70_37	missense	SNP	1.000	A
AIFM3	150209	genome.wustl.edu	37	22	21327625	21327625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:21327625G>T	ENST00000399167.2	+	3	301	c.61G>T	c.(61-63)Gag>Tag	p.E21*	AIFM3_ENST00000333607.6_Nonsense_Mutation_p.E21*|AIFM3_ENST00000405089.1_Nonsense_Mutation_p.E27*|AIFM3_ENST00000440238.2_Nonsense_Mutation_p.E21*|AIFM3_ENST00000335375.5_Silent_p.L45L|AIFM3_ENST00000399163.2_Nonsense_Mutation_p.E21*	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	21					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGTGCTGCCTGAGAAGGAGCG	0.672																																																	0													22.0	22.0	22.0					22																	21327625		2195	4296	6491	SO:0001587	stop_gained	150209			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.61G>T	22.37:g.21327625G>T	ENSP00000382120:p.Glu21*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Nonsense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2	p.E21*	ENST00000399167.2	37	c.61	CCDS13786.1	22	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707465	0.68615	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000441376;ENST00000434714;ENST00000405089;ENST00000440238;ENST00000333607	.	.	.	5.18	2.92	0.33932	.	0.128138	0.51477	D	0.000087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.9169	0.52771	0.0:0.0:0.6856:0.3144	.	.	.	.	X	21;21;21;21;27;21;21	.	ENSP00000327671:E21X	E	+	1	0	AIFM3	19657625	1.000000	0.71417	0.830000	0.32933	0.023000	0.10783	6.244000	0.72391	1.111000	0.41721	0.655000	0.94253	GAG	AIFM3	-	NULL		0.672	AIFM3-002	KNOWN	basic|CCDS	protein_coding	AIFM3	HGNC	protein_coding	OTTHUMT00000320150.1	G	NM_144704		21327625	+1	no_errors	ENST00000399167	ensembl	human	known	70_37	nonsense	SNP	0.972	T
AIFM3	150209	genome.wustl.edu	37	22	21327739	21327739	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:21327739C>T	ENST00000399167.2	+	3	415	c.175C>T	c.(175-177)Cac>Tac	p.H59Y	AIFM3_ENST00000333607.6_Missense_Mutation_p.H59Y|AIFM3_ENST00000405089.1_Missense_Mutation_p.H65Y|AIFM3_ENST00000440238.2_Missense_Mutation_p.H59Y|AIFM3_ENST00000335375.5_Silent_p.L83L|AIFM3_ENST00000399163.2_Missense_Mutation_p.H59Y	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	59					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTCCACCCCTCACCCCTACCC	0.682																																																	0													28.0	28.0	28.0					22																	21327739		2203	4300	6503	SO:0001583	missense	150209			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.175C>T	22.37:g.21327739C>T	ENSP00000382120:p.His59Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2	p.H59Y	ENST00000399167.2	37	c.175	CCDS13786.1	22	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924284	0.34002	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000441376;ENST00000434714;ENST00000405089;ENST00000440238;ENST00000333607	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.17	4.13	0.48395	.	0.420202	0.20381	N	0.093451	T	0.23688	0.0573	N	0.08118	0	0.09310	N	1	B;B;B	0.31989	0.35;0.35;0.238	B;B;B	0.19148	0.024;0.024;0.01	T	0.13045	-1.0524	10	0.59425	D	0.04	.	8.7002	0.34320	0.172:0.6618:0.1662:0.0	.	65;59;59	Q96NN9-2;Q96NN9-3;Q96NN9	.;.;AIFM3_HUMAN	Y	59;59;59;59;65;59;59	ENSP00000382120:H59Y;ENSP00000382116:H59Y;ENSP00000385800:H65Y;ENSP00000390798:H59Y;ENSP00000327671:H59Y	ENSP00000327671:H59Y	H	+	1	0	AIFM3	19657739	0.957000	0.32711	0.708000	0.30435	0.912000	0.54170	2.374000	0.44274	1.134000	0.42165	0.650000	0.86243	CAC	AIFM3	-	NULL		0.682	AIFM3-002	KNOWN	basic|CCDS	protein_coding	AIFM3	HGNC	protein_coding	OTTHUMT00000320150.1	C	NM_144704		21327739	+1	no_errors	ENST00000399167	ensembl	human	known	70_37	missense	SNP	0.225	T
AIRE	326	genome.wustl.edu	37	21	45709596	45709596	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:45709596G>A	ENST00000291582.5	+	6	836	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	AIRE_ENST00000355347.4_5'Flank|AIRE_ENST00000329347.4_5'Flank	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	237	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CAGCAAGTTCGAAGACTCCGG	0.662									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																																								0													46.0	53.0	50.0					21																	45709596		2203	4298	6501	SO:0001583	missense	326	Familial Cancer Database	APECED	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.709G>A	21.37:g.45709596G>A	ENSP00000291582:p.Glu237Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	pfam_Sp100,pfam_Znf_PHD-finger,pfam_SAND_dom,superfamily_Znf_FYVE_PHD,superfamily_SAND_dom-like,smart_SAND_dom,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_SAND_dom,prints_AIRE	p.E237K	ENST00000291582.5	37	c.709	CCDS13706.1	21	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560909	0.45590	.	.	ENSG00000160224	ENST00000291582	T	0.67865	-0.29	4.12	3.19	0.36642	SAND domain-like (2);SAND domain (3);	0.132398	0.33631	N	0.004708	T	0.77116	0.4083	M	0.67953	2.075	0.43540	D	0.995837	D	0.89917	1.0	D	0.83275	0.996	T	0.76173	-0.3056	10	0.48119	T	0.1	-42.7415	10.0972	0.42482	0.0:0.2062:0.7938:0.0	.	237	O43918	AIRE_HUMAN	K	237	ENSP00000291582:E237K	ENSP00000291582:E237K	E	+	1	0	AIRE	44534024	1.000000	0.71417	0.060000	0.19600	0.008000	0.06430	4.232000	0.58645	0.981000	0.38548	0.591000	0.81541	GAA	AIRE	-	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom,prints_AIRE		0.662	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIRE	HGNC	protein_coding	OTTHUMT00000195842.2	G			45709596	+1	no_errors	ENST00000291582	ensembl	human	known	70_37	missense	SNP	0.448	A
AK8	158067	genome.wustl.edu	37	9	135702440	135702440	+	Splice_Site	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:135702440C>G	ENST00000298545.3	-	8	1079	c.558G>C	c.(556-558)gaG>gaC	p.E186D	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	186	Adenylate kinase 1.|LID 1. {ECO:0000250}.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TGTGATAAATCTCTACAAGGA	0.582																																																	0													106.0	105.0	105.0					9																	135702440		2203	4300	6503	SO:0001630	splice_region_variant	158067			AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.557-1G>C	9.37:g.135702440C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K821|Q8N9W9	Missense_Mutation	SNP	pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin	p.E186D	ENST00000298545.3	37	c.558	CCDS6954.1	9	.	.	.	.	.	.	.	.	.	.	C	7.905	0.735319	0.15574	.	.	ENSG00000165695	ENST00000298545	T	0.67865	-0.29	5.34	2.5	0.30297	Adenylate kinase, active site lid domain (1);	0.102279	0.64402	D	0.000003	T	0.47469	0.1447	L	0.27944	0.81	0.36788	D	0.884702	B	0.16166	0.016	B	0.20955	0.032	T	0.37430	-0.9706	10	0.11794	T	0.64	.	9.1825	0.37149	0.0:0.7656:0.0:0.2344	.	186	Q96MA6	KAD8_HUMAN	D	186	ENSP00000298545:E186D	ENSP00000298545:E186D	E	-	3	2	AK8	134692261	0.998000	0.40836	1.000000	0.80357	0.712000	0.41017	0.336000	0.19823	0.635000	0.30488	0.455000	0.32223	GAG	AK8	-	pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom		0.582	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK8	HGNC	protein_coding	OTTHUMT00000055413.1	C	NM_152572	Missense_Mutation	135702440	-1	no_errors	ENST00000298545	ensembl	human	known	70_37	missense	SNP	1.000	G
AKAP11	11215	genome.wustl.edu	37	13	42877194	42877194	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:42877194C>G	ENST00000025301.2	+	8	4487	c.4312C>G	c.(4312-4314)Caa>Gaa	p.Q1438E		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1438					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTGTAAAAATCAAACTTGTGA	0.358																																																	0													50.0	56.0	54.0					13																	42877194		2203	4300	6503	SO:0001583	missense	11215			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4312C>G	13.37:g.42877194C>G	ENSP00000025301:p.Gln1438Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O75124|Q9NUK7	Missense_Mutation	SNP	NULL	p.Q1438E	ENST00000025301.2	37	c.4312	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	C	2.502	-0.314989	0.05422	.	.	ENSG00000023516	ENST00000025301	T	0.51325	0.71	5.98	4.25	0.50352	.	0.507715	0.18284	N	0.145940	T	0.35653	0.0939	L	0.58669	1.825	0.09310	N	1	B	0.22146	0.065	B	0.18561	0.022	T	0.38993	-0.9635	10	0.02654	T	1	.	6.84	0.23957	0.133:0.6722:0.128:0.0668	.	1438	Q9UKA4	AKA11_HUMAN	E	1438	ENSP00000025301:Q1438E	ENSP00000025301:Q1438E	Q	+	1	0	AKAP11	41775194	0.068000	0.21057	0.008000	0.14137	0.208000	0.24298	1.847000	0.39299	0.857000	0.35407	0.650000	0.86243	CAA	AKAP11	-	NULL		0.358	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	C	NM_016248		42877194	+1	no_errors	ENST00000025301	ensembl	human	known	70_37	missense	SNP	0.001	G
AKAP13	11214	genome.wustl.edu	37	15	86064769	86064769	+	Silent	SNP	G	G	T	rs116628862		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:86064769G>T	ENST00000394518.2	+	3	239	c.144G>T	c.(142-144)cgG>cgT	p.R48R	AKAP13_ENST00000361243.2_Silent_p.R48R|AKAP13_ENST00000560302.1_Silent_p.R48R	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	48					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAAGTACTCGGAAGGTCAGTT	0.413																																					Melanoma(94;603 1453 3280 32295 32951)												0													245.0	219.0	228.0					15																	86064769		2202	4299	6501	SO:0001819	synonymous_variant	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.144G>T	15.37:g.86064769G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.R48	ENST00000394518.2	37	c.144	CCDS32319.1	15																																																																																			AKAP13	-	NULL		0.413	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	G	NM_007200		86064769	+1	no_errors	ENST00000361243	ensembl	human	known	70_37	silent	SNP	1.000	T
AKNA	80709	genome.wustl.edu	37	9	117103902	117103902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:117103902C>T	ENST00000307564.4	-	21	4139	c.3978G>A	c.(3976-3978)tgG>tgA	p.W1326*	AKNA_ENST00000374075.5_Nonsense_Mutation_p.W1245*|AKNA_ENST00000374088.3_Nonsense_Mutation_p.W1326*|AKNA_ENST00000223791.3_Nonsense_Mutation_p.W786*|AKNA_ENST00000374079.4_Nonsense_Mutation_p.W271*|AKNA_ENST00000492875.1_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1326					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TTGCCAGATACCACAGTCCGG	0.622																																																	0													56.0	62.0	60.0					9																	117103902		2203	4300	6503	SO:0001587	stop_gained	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3978G>A	9.37:g.117103902C>T	ENSP00000303769:p.Trp1326*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Nonsense_Mutation	SNP	pfam_TF_AT-hook	p.W1326*	ENST00000307564.4	37	c.3978	CCDS6805.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.170662|10.170662	0.99352|0.99352	.|.	.|.	ENSG00000106948|ENSG00000106948	ENST00000320310|ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.56097	.|D	.|0.000037	T|.	0.36386|.	0.0965|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29150|.	-1.0021|.	4|.	0.87932|0.02654	D|T	0|1	-18.9062|-18.9062	15.2568|15.2568	0.73591|0.73591	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	337|1326;271;1326;786;1245	.|.	ENSP00000314538:G337D|ENSP00000223791:W786X	G|W	-|-	2|3	0|0	AKNA|AKNA	116143723|116143723	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.486000|0.486000	0.33341|0.33341	4.231000|4.231000	0.58639|0.58639	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GGT|TGG	AKNA	-	NULL		0.622	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	C	NM_030767		117103902	-1	no_errors	ENST00000307564	ensembl	human	known	70_37	nonsense	SNP	1.000	T
AKR1CL1	340811	genome.wustl.edu	37	10	5227083	5227083	+	5'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:5227083C>G	ENST00000334314.3	-	0	61				AKR1CL1_ENST00000445191.1_Intron			Q5T2L2	AKCL1_HUMAN	aldo-keto reductase family 1, member C-like 1							cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCTAACCTGTCTTTCCTCCTT	0.522																																					Ovarian(129;1623 1737 25446 28757 47467)												0													161.0	126.0	138.0					10																	5227083		2203	4300	6503	SO:0001623	5_prime_UTR_variant	340811					10p15.2	2014-05-06			ENSG00000196326	ENSG00000264006			23469	protein-coding gene	gene with protein product						15164054	Standard	NR_027916		Approved		uc009xhz.2	Q5T2L2	OTTHUMG00000184213	ENST00000334314.3:c.-16G>C	10.37:g.5227083C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF66|Q6ZN81	RNA	SNP	-	NULL	ENST00000334314.3	37	NULL		10																																																																																			AKR1CL1	-	-		0.522	AKR1CL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	AKR1CL1	HGNC	protein_coding		C	NR_027916		5227083	-1	no_errors	ENST00000472691	ensembl	human	known	70_37	rna	SNP	0.000	G
AKTIP	64400	genome.wustl.edu	37	16	53526658	53526658	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:53526658G>C	ENST00000394657.7	-	9	892	c.718C>G	c.(718-720)Cca>Gca	p.P240A	AKTIP_ENST00000300245.4_Missense_Mutation_p.P240A|AKTIP_ENST00000570004.1_Missense_Mutation_p.P240A	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	240					apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				GGATTCCATGGAGAAAAGCTT	0.333																																																	0													94.0	94.0	94.0					16																	53526658		2198	4299	6497	SO:0001583	missense	64400			AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"""Ubiquitin-conjugating enzymes E2"""	16710	protein-coding gene	gene with protein product		608483	"""fused toes (mouse) homolog"", ""fused toes homolog (mouse)"""	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.718C>G	16.37:g.53526658G>C	ENSP00000378152:p.Pro240Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q503B1|Q53H38	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.P240A	ENST00000394657.7	37	c.718	CCDS10749.1	16	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475000	0.63737	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	D;D	0.83673	-1.73;-1.75	5.88	5.88	0.94601	.	0.046847	0.85682	D	0.000000	T	0.80701	0.4673	L	0.43152	1.355	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.14023	0.003;0.01	T	0.74022	-0.3798	10	0.52906	T	0.07	-23.2684	20.2314	0.98350	0.0:0.0:1.0:0.0	.	240;240	Q9H8T0-2;Q9H8T0	.;AKTIP_HUMAN	A	240	ENSP00000378152:P240A;ENSP00000300245:P240A	ENSP00000300245:P240A	P	-	1	0	AKTIP	52084159	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.777000	0.99008	2.789000	0.95967	0.591000	0.81541	CCA	AKTIP	-	NULL		0.333	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKTIP	HGNC	protein_coding	OTTHUMT00000256909.4	G	NM_022476		53526658	-1	no_errors	ENST00000300245	ensembl	human	known	70_37	missense	SNP	1.000	C
AKTIP	64400	genome.wustl.edu	37	16	53528490	53528490	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:53528490G>A	ENST00000394657.7	-	6	616	c.442C>T	c.(442-444)Cac>Tac	p.H148Y	AKTIP_ENST00000300245.4_Missense_Mutation_p.H148Y|AKTIP_ENST00000570004.1_Missense_Mutation_p.H148Y	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	148					apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				ACTAGCGGGTGAAAGACAGGA	0.413																																																	0													60.0	57.0	58.0					16																	53528490		2198	4300	6498	SO:0001583	missense	64400			AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"""Ubiquitin-conjugating enzymes E2"""	16710	protein-coding gene	gene with protein product		608483	"""fused toes (mouse) homolog"", ""fused toes homolog (mouse)"""	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.442C>T	16.37:g.53528490G>A	ENSP00000378152:p.His148Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q503B1|Q53H38	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.H148Y	ENST00000394657.7	37	c.442	CCDS10749.1	16	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891090	0.72524	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	T;T	0.59906	0.23;0.23	5.63	5.63	0.86233	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.83843	0.5342	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87568	0.2476	10	0.87932	D	0	-10.7121	20.0401	0.97581	0.0:0.0:1.0:0.0	.	148;148	Q9H8T0-2;Q9H8T0	.;AKTIP_HUMAN	Y	148	ENSP00000378152:H148Y;ENSP00000300245:H148Y	ENSP00000300245:H148Y	H	-	1	0	AKTIP	52085991	1.000000	0.71417	1.000000	0.80357	0.095000	0.18619	7.720000	0.84759	2.805000	0.96524	0.655000	0.94253	CAC	AKTIP	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.413	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKTIP	HGNC	protein_coding	OTTHUMT00000256909.4	G	NM_022476		53528490	-1	no_errors	ENST00000300245	ensembl	human	known	70_37	missense	SNP	1.000	A
ALDH18A1	5832	genome.wustl.edu	37	10	97396862	97396862	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:97396862G>A	ENST00000371224.2	-	5	683	c.546C>T	c.(544-546)atC>atT	p.I182I	ALDH18A1_ENST00000371221.3_Silent_p.I182I|ALDH18A1_ENST00000483788.1_5'UTR	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	182	Glutamate 5-kinase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		GGGCAGCACAGATGCTGTACT	0.532																																																	0													58.0	50.0	53.0					10																	97396862		2203	4300	6503	SO:0001819	synonymous_variant	5832			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.546C>T	10.37:g.97396862G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Silent	SNP	pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	p.I182	ENST00000371224.2	37	c.546	CCDS7443.1	10																																																																																			ALDH18A1	-	pfam_Asp/Glu/Uridylate_kinase,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn		0.532	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALDH18A1	HGNC	protein_coding	OTTHUMT00000049552.1	G	NM_002860		97396862	-1	no_errors	ENST00000371224	ensembl	human	known	70_37	silent	SNP	1.000	A
ALDH1B1	219	genome.wustl.edu	37	9	38395833	38395833	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:38395833C>G	ENST00000377698.3	+	2	241	c.88C>G	c.(88-90)Ctg>Gtg	p.L30V		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	30					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		AAGCCCCATTCTGAACCCAGA	0.607																																																	0													80.0	74.0	76.0					9																	38395833		2203	4300	6503	SO:0001583	missense	219			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.88C>G	9.37:g.38395833C>G	ENSP00000366927:p.Leu30Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.L30V	ENST00000377698.3	37	c.88	CCDS6615.1	9	.	.	.	.	.	.	.	.	.	.	C	0.029	-1.349940	0.01266	.	.	ENSG00000137124	ENST00000377698	T	0.16324	2.35	5.81	3.99	0.46301	Aldehyde/histidinol dehydrogenase (1);	0.937540	0.08941	N	0.871547	T	0.09291	0.0229	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38134	-0.9675	10	0.25106	T	0.35	.	7.9699	0.30122	0.0:0.7542:0.0:0.2458	.	30	P30837	AL1B1_HUMAN	V	30	ENSP00000366927:L30V	ENSP00000366927:L30V	L	+	1	2	ALDH1B1	38385833	0.043000	0.20138	0.128000	0.21923	0.114000	0.19823	1.164000	0.31810	0.825000	0.34637	-0.136000	0.14681	CTG	ALDH1B1	-	superfamily_Ald_DH/histidinol_DH		0.607	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1B1	HGNC	protein_coding	OTTHUMT00000052492.1	C			38395833	+1	no_errors	ENST00000377698	ensembl	human	known	70_37	missense	SNP	0.003	G
ALDH3B2	222	genome.wustl.edu	37	11	67434463	67434463	+	5'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:67434463C>G	ENST00000349015.3	-	0	382				ALDH3B2_ENST00000531881.1_5'UTR|ALDH3B2_ENST00000530069.1_5'UTR	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2						alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						AGGATGAGCTCAGATATGTCT	0.572																																																	0													51.0	43.0	45.0					11																	67434463		692	1591	2283	SO:0001623	5_prime_UTR_variant	222			U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.-57G>C	11.37:g.67434463C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53Y98|Q8NAL5|Q96IB2	RNA	SNP	-	NULL	ENST00000349015.3	37	NULL	CCDS31622.1	11																																																																																			ALDH3B2	-	-		0.572	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH3B2	HGNC	protein_coding	OTTHUMT00000394004.1	C	NM_000695		67434463	-1	no_errors	ENST00000531881	ensembl	human	known	70_37	rna	SNP	0.993	G
ALDOA	226	genome.wustl.edu	37	16	30077131	30077131	+	5'UTR	SNP	C	C	G	rs574106376	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30077131C>G	ENST00000564546.1	+	0	663				ALDOA_ENST00000563060.2_Intron|ALDOA_ENST00000395248.1_Intron|ALDOA_ENST00000564595.2_5'UTR|ALDOA_ENST00000569545.1_Intron|ALDOA_ENST00000412304.2_Intron|ALDOA_ENST00000395240.3_5'UTR|ALDOA_ENST00000569798.1_5'UTR|ALDOA_ENST00000566897.1_Intron|ALDOA_ENST00000338110.5_Intron			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate						actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GCGTTCCTCTCGGAACGCGCC	0.711													C|||	7	0.00139776	0.0053	0.0	5008	,	,		12078	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001623	5_prime_UTR_variant	226			X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000564546.1:c.-139C>G	16.37:g.30077131C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	RNA	SNP	-	NULL	ENST00000564546.1	37	NULL	CCDS10668.1	16																																																																																			ALDOA	-	-		0.711	ALDOA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALDOA	HGNC	protein_coding	OTTHUMT00000255145.3	C	NM_000034		30077131	+1	no_errors	ENST00000566012	ensembl	human	known	70_37	rna	SNP	0.791	G
ALDOA	226	genome.wustl.edu	37	16	30081343	30081343	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30081343G>C	ENST00000566897.1	+	11	2144	c.992G>C	c.(991-993)cGa>cCa	p.R331P	ALDOA_ENST00000563060.2_Missense_Mutation_p.R331P|ALDOA_ENST00000564546.1_Missense_Mutation_p.R331P|ALDOA_ENST00000395248.1_Missense_Mutation_p.R385P|ALDOA_ENST00000564595.2_Missense_Mutation_p.R385P|ALDOA_ENST00000569545.1_Missense_Mutation_p.R331P|ALDOA_ENST00000412304.2_Missense_Mutation_p.R331P|ALDOA_ENST00000395240.3_Missense_Mutation_p.R335P|ALDOA_ENST00000569798.1_Missense_Mutation_p.R331P|ALDOA_ENST00000338110.5_Missense_Mutation_p.R331P			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	331					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						TATGTCAAGCGAGCCCTGGTA	0.637																																																	0													28.0	28.0	28.0					16																	30081343		2197	4300	6497	SO:0001583	missense	226			X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.992G>C	16.37:g.30081343G>C	ENSP00000455724:p.Arg331Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Missense_Mutation	SNP	pfam_Aldolase_I	p.R331P	ENST00000566897.1	37	c.992	CCDS10668.1	16	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579221	0.86645	.	.	ENSG00000149925	ENST00000395248;ENST00000338110;ENST00000412304;ENST00000395240	D;D;D	0.87809	-2.3;-2.3;-2.3	5.58	5.58	0.84498	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.95749	0.8617	H	0.95504	3.68	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96746	0.9550	10	0.87932	D	0	.	18.3461	0.90322	0.0:0.0:1.0:0.0	.	331	P04075	ALDOA_HUMAN	P	385;331;331;331	ENSP00000378669:R385P;ENSP00000336927:R331P;ENSP00000400452:R331P	ENSP00000336927:R331P	R	+	2	0	ALDOA	29988844	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.706000	0.98722	2.638000	0.89438	0.655000	0.94253	CGA	ALDOA	-	pfam_Aldolase_I		0.637	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ALDOA	HGNC	protein_coding	OTTHUMT00000435360.1	G	NM_000034		30081343	+1	no_errors	ENST00000338110	ensembl	human	known	70_37	missense	SNP	1.000	C
ALG1	56052	genome.wustl.edu	37	16	5125483	5125483	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:5125483C>A	ENST00000262374.5	+	4	516	c.485C>A	c.(484-486)tCc>tAc	p.S162Y	ALG1_ENST00000588623.1_Missense_Mutation_p.S51Y|ALG1_ENST00000544428.1_Missense_Mutation_p.S51Y	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	162					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TATGGCTACTCCATCATGGGT	0.552																																																	0													144.0	122.0	129.0					16																	5125483		2197	4300	6497	SO:0001583	missense	56052			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.485C>A	16.37:g.5125483C>A	ENSP00000262374:p.Ser162Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Missense_Mutation	SNP	pfam_Glyco_trans_1	p.S162Y	ENST00000262374.5	37	c.485	CCDS10528.1	16	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548971	0.86127	.	.	ENSG00000033011	ENST00000262374;ENST00000544428	D;D	0.84730	-1.89;-1.89	5.7	4.75	0.60458	.	0.215941	0.47852	D	0.000214	D	0.92084	0.7491	M	0.89715	3.055	0.58432	D	0.999997	D;D	0.63880	0.986;0.993	P;P	0.61201	0.778;0.885	D	0.92928	0.6361	10	0.87932	D	0	-23.7881	11.7654	0.51928	0.0:0.9157:0.0:0.0843	.	51;162	B4DP08;Q9BT22	.;ALG1_HUMAN	Y	162;51	ENSP00000262374:S162Y;ENSP00000440019:S51Y	ENSP00000262374:S162Y	S	+	2	0	ALG1	5065484	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.200000	0.58433	2.712000	0.92718	0.644000	0.83932	TCC	ALG1	-	NULL		0.552	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1	HGNC	protein_coding	OTTHUMT00000251716.2	C	NM_019109		5125483	+1	no_errors	ENST00000262374	ensembl	human	known	70_37	missense	SNP	1.000	A
ALDOA	226	genome.wustl.edu	37	16	30081399	30081399	+	Intron	SNP	G	G	A	rs373869890		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30081399G>A	ENST00000566897.1	+	12	2151				ALDOA_ENST00000563060.2_Intron|ALDOA_ENST00000564546.1_Intron|ALDOA_ENST00000395248.1_Intron|ALDOA_ENST00000564595.2_Intron|ALDOA_ENST00000569545.1_Intron|ALDOA_ENST00000412304.2_Intron|ALDOA_ENST00000395240.3_Intron|ALDOA_ENST00000569798.1_Missense_Mutation_p.E350K|ALDOA_ENST00000338110.5_Intron			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate						actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						ATGGGACTCGGAGAAGAGCCC	0.612																																																	0								G	,,,	2,4392	4.2+/-10.8	0,2,2195	46.0	40.0	42.0		,,,	-0.1	0.0	16		42	0,8600		0,0,4300	no	intron,intron,intron,intron	ALDOA	NM_000034.3,NM_001127617.2,NM_184041.2,NM_184043.2	,,,	0,2,6495	AA,AG,GG		0.0,0.0455,0.0154	,,,	,,,	30081399	2,12992	2197	4300	6497	SO:0001627	intron_variant	226			X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.1000-39G>A	16.37:g.30081399G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Missense_Mutation	SNP	pfam_Aldolase_I	p.E350K	ENST00000566897.1	37	c.1048	CCDS10668.1	16																																																																																			ALDOA	-	NULL		0.612	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ALDOA	HGNC	protein_coding	OTTHUMT00000435360.1	G	NM_000034		30081399	+1	no_errors	ENST00000569798	ensembl	human	novel	70_37	missense	SNP	0.000	A
ALG6	29929	genome.wustl.edu	37	1	63894748	63894749	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:63894748_63894749GG>AA	ENST00000371108.4	+	14	1582_1583	c.1277_1278GG>AA	c.(1276-1278)aGG>aAA	p.R426K	ALG6_ENST00000494765.1_3'UTR|ALG6_ENST00000263440.4_Missense_Mutation_p.R428K	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	426					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATTTCTGTGAGGAAATATCTTC	0.287																																																	0																																										SO:0001583	missense	29929			AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	Exception_encountered	1.37:g.63894748_63894749delinsAA	ENSP00000360149:p.Arg426Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation|Silent	SNP	pfam_Glyco_trans_ALG6/ALG8	p.R428K|p.R428	ENST00000371108.4	37	c.1283|c.1284	CCDS30735.1	1																																																																																			ALG6	-	pfam_Glyco_trans_ALG6/ALG8		0.287	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	ALG6	HGNC	protein_coding	OTTHUMT00000025330.2	G	NM_013339		63894748|63894749	+1	no_errors	ENST00000263440	ensembl	human	known	70_37	missense|silent	SNP	0.638|0.619	A
ALK	238	genome.wustl.edu	37	2	29543716	29543716	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:29543716C>G	ENST00000389048.3	-	7	2353	c.1447G>C	c.(1447-1449)Gaa>Caa	p.E483Q	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'Flank	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	483	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AAGCCATCTTCAAAGTTGCAG	0.522			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0													183.0	166.0	172.0					2																	29543716		2203	4300	6503	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1447G>C	2.37:g.29543716C>G	ENSP00000373700:p.Glu483Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E483Q	ENST00000389048.3	37	c.1447	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365861	0.41902	.	.	ENSG00000171094	ENST00000389048	T	0.04156	3.69	5.87	4.98	0.66077	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.000000	0.48767	D	0.000172	T	0.12646	0.0307	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.13229	-1.0517	9	.	.	.	.	14.5936	0.68389	0.0:0.8545:0.1455:0.0	.	483	Q9UM73	ALK_HUMAN	Q	483	ENSP00000373700:E483Q	.	E	-	1	0	ALK	29397220	0.918000	0.31147	0.053000	0.19242	0.073000	0.16967	2.119000	0.41958	1.585000	0.49928	0.655000	0.94253	GAA	ALK	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom		0.522	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	C	NM_004304		29543716	-1	no_errors	ENST00000389048	ensembl	human	known	70_37	missense	SNP	0.422	G
ALKBH3	221120	genome.wustl.edu	37	11	43911305	43911305	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:43911305G>A	ENST00000302708.4	+	6	708	c.297G>A	c.(295-297)gtG>gtA	p.V99V	ALKBH3_ENST00000532410.1_3'UTR|ALKBH3_ENST00000378840.4_Silent_p.V98V	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	99					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	TTGTTGACGTGAAAGAAGCTG	0.428								Direct reversal of damage																																									0													154.0	142.0	146.0					11																	43911305		2203	4300	6503	SO:0001819	synonymous_variant	221120			AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"""Alkylation repair homologs"""	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.297G>A	11.37:g.43911305G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Silent	SNP	pfam_Oxoglu/Fe-dep_dioxygenase	p.V99	ENST00000302708.4	37	c.297	CCDS7906.1	11																																																																																			ALKBH3	-	NULL		0.428	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH3	HGNC	protein_coding	OTTHUMT00000389693.1	G	NM_139178		43911305	+1	no_errors	ENST00000302708	ensembl	human	known	70_37	silent	SNP	0.000	A
ALLC	55821	genome.wustl.edu	37	2	3727551	3727551	+	Missense_Mutation	SNP	C	C	G	rs200659457	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:3727551C>G	ENST00000252505.3	+	5	427	c.265C>G	c.(265-267)Cga>Gga	p.R89G		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	108					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TTACGCTCCTCGAGTGTCCAT	0.547										HNSCC(21;0.051)																																							0													122.0	128.0	126.0					2																	3727551		2071	4203	6274	SO:0001583	missense	55821			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.265C>G	2.37:g.3727551C>G	ENSP00000252505:p.Arg89Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	p.R89G	ENST00000252505.3	37	c.265	CCDS46223.1	2	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490913	0.26774	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	4.85	0.62838	Allantoicase domain (1);Galactose-binding domain-like (1);	0.412136	0.26210	N	0.025682	T	0.63379	0.2506	M	0.65975	2.015	0.40916	D	0.984274	B	0.26318	0.146	B	0.35353	0.201	T	0.58741	-0.7583	9	0.23302	T	0.38	-7.0753	14.6003	0.68435	0.146:0.854:0.0:0.0	.	108	Q8N6M5	ALLC_HUMAN	G	89	.	ENSP00000252505:R89G	R	+	1	2	ALLC	3705426	0.604000	0.26932	0.864000	0.33941	0.073000	0.16967	2.042000	0.41222	2.884000	0.98904	0.655000	0.94253	CGA	ALLC	-	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase		0.547	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALLC	HGNC	protein_coding	OTTHUMT00000322855.1	C			3727551	+1	no_errors	ENST00000252505	ensembl	human	known	70_37	missense	SNP	0.990	G
ALOX12P2	245	genome.wustl.edu	37	17	6797684	6797684	+	RNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:6797684G>A	ENST00000574727.1	+	0	543									arachidonate 12-lipoxygenase pseudogene 2											endometrium(1)	1						GGCGCCTCCTGATGGTGAAGC	0.617																																																	0																																												245			AF020774		17p13.1	2014-03-18			ENSG00000262943	ENSG00000262943			432	pseudogene	pseudogene						9691181	Standard	NR_002710		Approved		uc002gdv.3		OTTHUMG00000177324		17.37:g.6797684G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000574727.1	37	NULL		17																																																																																			ALOX12P2	-	-		0.617	ALOX12P2-003	KNOWN	basic	processed_transcript	ALOX12P2	HGNC	pseudogene	OTTHUMT00000436284.1	G			6797684	+1	no_errors	ENST00000570835	ensembl	human	known	70_37	rna	SNP	0.659	A
ALPK3	57538	genome.wustl.edu	37	15	85383373	85383373	+	Missense_Mutation	SNP	G	G	A	rs142197641		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:85383373G>A	ENST00000258888.5	+	5	1636	c.1469G>A	c.(1468-1470)gGa>gAa	p.G490E		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	490					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G490E(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGAGGACGGAGAGCATGGC	0.552																																																	1	Substitution - Missense(1)	skin(1)											68.0	67.0	68.0					15																	85383373		2203	4299	6502	SO:0001583	missense	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.1469G>A	15.37:g.85383373G>A	ENSP00000258888:p.Gly490Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.G490E	ENST00000258888.5	37	c.1469	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	G	7.853	0.724414	0.15439	.	.	ENSG00000136383	ENST00000258888	T	0.58652	0.32	5.02	-0.552	0.11818	.	0.979790	0.08356	N	0.958493	T	0.29556	0.0737	N	0.17082	0.46	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.21449	-1.0245	10	0.02654	T	1	-5.3181	1.4705	0.02414	0.2342:0.2631:0.3678:0.1349	.	490	Q96L96	ALPK3_HUMAN	E	490	ENSP00000258888:G490E	ENSP00000258888:G490E	G	+	2	0	ALPK3	83184377	0.021000	0.18746	0.000000	0.03702	0.759000	0.43091	0.864000	0.27926	-0.397000	0.07691	-1.686000	0.00732	GGA	ALPK3	-	NULL		0.552	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	G	NM_020778		85383373	+1	no_errors	ENST00000258888	ensembl	human	known	70_37	missense	SNP	0.000	A
ALPK3	57538	genome.wustl.edu	37	15	85401610	85401610	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:85401610C>G	ENST00000258888.5	+	6	4414	c.4247C>G	c.(4246-4248)tCc>tGc	p.S1416C		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1416					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAGAGACGCTCCCCTACGCAG	0.701																																																	0													11.0	14.0	13.0					15																	85401610		2138	4204	6342	SO:0001583	missense	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4247C>G	15.37:g.85401610C>G	ENSP00000258888:p.Ser1416Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.S1416C	ENST00000258888.5	37	c.4247	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	c	21.9	4.218611	0.79464	.	.	ENSG00000136383	ENST00000258888	T	0.76448	-1.02	5.92	5.92	0.95590	.	0.411190	0.27764	N	0.017955	D	0.87362	0.6158	M	0.71581	2.175	0.44834	D	0.997844	D	0.89917	1.0	D	0.83275	0.996	D	0.87736	0.2582	10	0.72032	D	0.01	-15.682	15.8261	0.78709	0.0:1.0:0.0:0.0	.	1416	Q96L96	ALPK3_HUMAN	C	1416	ENSP00000258888:S1416C	ENSP00000258888:S1416C	S	+	2	0	ALPK3	83202614	1.000000	0.71417	0.888000	0.34837	0.645000	0.38454	5.522000	0.67092	2.811000	0.96726	0.651000	0.88453	TCC	ALPK3	-	NULL		0.701	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	C	NM_020778		85401610	+1	no_errors	ENST00000258888	ensembl	human	known	70_37	missense	SNP	1.000	G
ALPP	250	genome.wustl.edu	37	2	233245707	233245707	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:233245707C>G	ENST00000392027.2	+	9	1427	c.1158C>G	c.(1156-1158)ttC>ttG	p.F386L	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	386					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCTTCTCCTTCGGAGGCTACC	0.617																																																	0													1.0	1.0	1.0					2																	233245707		987	2537	3524	SO:0001583	missense	250			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1158C>G	2.37:g.233245707C>G	ENSP00000375881:p.Phe386Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.F386L	ENST00000392027.2	37	c.1158	CCDS2490.1	2	.	.	.	.	.	.	.	.	.	.	C	5.242	0.230127	0.09969	.	.	ENSG00000163283	ENST00000392027	D	0.96619	-4.07	3.2	0.819	0.18785	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.111781	0.64402	N	0.000006	D	0.95262	0.8463	L	0.37561	1.115	0.41734	D	0.989577	D	0.64830	0.994	D	0.64321	0.924	D	0.91994	0.5605	10	0.40728	T	0.16	.	8.2315	0.31601	0.0:0.6049:0.0:0.3951	.	386	P05187	PPB1_HUMAN	L	386	ENSP00000375881:F386L	ENSP00000375881:F386L	F	+	3	2	ALPP	232953951	0.003000	0.15002	0.416000	0.26546	0.121000	0.20230	-1.382000	0.02546	-0.114000	0.11936	-0.786000	0.03341	TTC	ALPP	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase		0.617	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPP	HGNC	protein_coding	OTTHUMT00000257032.3	C	NM_001632		233245707	+1	no_errors	ENST00000392027	ensembl	human	known	70_37	missense	SNP	0.999	G
AMD1	262	genome.wustl.edu	37	6	111211456	111211456	+	Splice_Site	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:111211456G>C	ENST00000368885.3	+	4	660		c.e4-1		AMD1_ENST00000368876.1_Splice_Site|AMD1_ENST00000368877.5_Splice_Site|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368882.3_Intron	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1						cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TTTTAATAAAGAGCTTCTTTT	0.323																																																	0													27.0	30.0	29.0					6																	111211456		2182	4288	6470	SO:0001630	splice_region_variant	262			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.325-1G>C	6.37:g.111211456G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Splice_Site	SNP	-	e4-1	ENST00000368885.3	37	c.325-1	CCDS5086.1	6	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784535	0.49997	.	.	ENSG00000123505	ENST00000368885;ENST00000368877;ENST00000368876	.	.	.	1.88	1.88	0.25563	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.444	0.50112	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AMD1	111318149	1.000000	0.71417	0.888000	0.34837	0.920000	0.55202	4.881000	0.63114	0.459000	0.27016	0.462000	0.41574	.	AMD1	-	-		0.323	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AMD1	HGNC	protein_coding	OTTHUMT00000041816.1	G		Intron	111211456	+1	no_errors	ENST00000368885	ensembl	human	known	70_37	splice_site	SNP	1.000	C
AMHR2	269	genome.wustl.edu	37	12	53823407	53823407	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:53823407G>T	ENST00000257863.4	+	8	1218	c.1138G>T	c.(1138-1140)Gaa>Taa	p.E380*	AMHR2_ENST00000550311.1_Nonsense_Mutation_p.E380*|AMHR2_ENST00000379791.3_Nonsense_Mutation_p.E380*	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	380	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.E380K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TGCCATCATGGAAGTGAGTTC	0.562																																																	1	Substitution - Missense(1)	breast(1)											62.0	49.0	54.0					12																	53823407		2203	4300	6503	SO:0001587	stop_gained	269			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1138G>T	12.37:g.53823407G>T	ENSP00000257863:p.Glu380*	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom	p.E380*	ENST00000257863.4	37	c.1138	CCDS8858.1	12	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871028	0.91587	.	.	ENSG00000135409	ENST00000257863;ENST00000550311;ENST00000379791	.	.	.	4.99	4.99	0.66335	.	0.000000	0.38492	N	0.001673	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	13.98	0.64299	0.0:0.0:1.0:0.0	.	.	.	.	X	380	.	ENSP00000257863:E380X	E	+	1	0	AMHR2	52109674	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	2.170000	0.42443	2.769000	0.95229	0.563000	0.77884	GAA	AMHR2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom		0.562	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMHR2	HGNC	protein_coding	OTTHUMT00000407048.1	G	NM_020547		53823407	+1	no_errors	ENST00000257863	ensembl	human	known	70_37	nonsense	SNP	1.000	T
AMDHD1	144193	genome.wustl.edu	37	12	96356187	96356187	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:96356187G>A	ENST00000266736.2	+	6	974	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	290					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						AGTGAGTGATGAAGGCATCGT	0.537																																																	0													112.0	86.0	95.0					12																	96356187		2203	4300	6503	SO:0001583	missense	144193			AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.868G>A	12.37:g.96356187G>A	ENSP00000266736:p.Glu290Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K463|Q68CI8	Missense_Mutation	SNP	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI	p.E290K	ENST00000266736.2	37	c.868	CCDS9057.1	12	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882289	0.51908	.	.	ENSG00000139344	ENST00000266736	T	0.50813	0.73	5.12	4.23	0.50019	Metal-dependent hydrolase, composite domain (1);	0.202896	0.51477	D	0.000093	T	0.39091	0.1065	L	0.47078	1.49	0.40289	D	0.978486	B	0.12630	0.006	B	0.17979	0.02	T	0.23154	-1.0196	10	0.30078	T	0.28	1.5371	9.96	0.41691	0.1553:0.0:0.8447:0.0	.	290	Q96NU7	HUTI_HUMAN	K	290	ENSP00000266736:E290K	ENSP00000266736:E290K	E	+	1	0	AMDHD1	94880318	1.000000	0.71417	0.983000	0.44433	0.874000	0.50279	4.903000	0.63272	1.276000	0.44395	0.561000	0.74099	GAA	AMDHD1	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI		0.537	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMDHD1	HGNC	protein_coding	OTTHUMT00000408640.1	G	NM_152435		96356187	+1	no_errors	ENST00000266736	ensembl	human	known	70_37	missense	SNP	1.000	A
GMPPB	29925	genome.wustl.edu	37	3	49756377	49756377	+	3'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:49756377G>C	ENST00000480687.1	-	0	4007				RNF123_ENST00000497099.1_Intron|AMIGO3_ENST00000535833.1_Missense_Mutation_p.F174L|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.F174L|RNF123_ENST00000433785.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAGGTGGTCGAAGGAGAACG	0.637											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													83.0	68.0	73.0					3																	49756377		2203	4300	6503	SO:0001624	3_prime_UTR_variant	386724			AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*2808C>G	3.37:g.49756377G>C		Somatic	964	WXS	Illumina HiSeq	Phase_IV	A8K6N5|Q9H7U3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F174L	ENST00000480687.1	37	c.522	CCDS2803.1	3	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222099	0.58560	.	.	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.02103	4.45;4.45	5.34	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.03520	0.0101	N	0.11756	0.17	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.62220	-0.6900	10	0.09338	T	0.73	-32.9735	9.3209	0.37964	0.1659:0.0:0.8341:0.0	.	174	Q86WK7	AMGO3_HUMAN	L	174	ENSP00000323096:F174L;ENSP00000439268:F174L	ENSP00000323096:F174L	F	-	3	2	AMIGO3	49731381	0.998000	0.40836	0.967000	0.41034	0.875000	0.50365	2.526000	0.45607	1.247000	0.43917	0.561000	0.74099	TTC	AMIGO3	-	smart_Leu-rich_rpt_typical-subtyp		0.637	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMIGO3	HGNC	protein_coding	OTTHUMT00000350291.1	G	NM_013334		49756377	-1	no_errors	ENST00000320431	ensembl	human	known	70_37	missense	SNP	0.988	C
AMOTL2	51421	genome.wustl.edu	37	3	134085242	134085242	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:134085242C>T	ENST00000422605.2	-	4	1235	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	AMOTL2_ENST00000514516.1_Missense_Mutation_p.E415K|AMOTL2_ENST00000513145.1_Missense_Mutation_p.E357K|AMOTL2_ENST00000511759.1_5'Flank|AMOTL2_ENST00000249883.5_Missense_Mutation_p.E357K			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	357					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TCATGGGCCTCAGAGAGCCGC	0.567																																																	0													76.0	79.0	78.0					3																	134085242		2203	4300	6503	SO:0001583	missense	51421			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1069G>A	3.37:g.134085242C>T	ENSP00000409999:p.Glu357Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.E357K	ENST00000422605.2	37	c.1069		3	.	.	.	.	.	.	.	.	.	.	C	34	5.361053	0.95877	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	4.77	4.77	0.60923	.	0.049475	0.85682	D	0.000000	T	0.44664	0.1304	M	0.67397	2.05	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.68765	0.96;0.96;0.913	T	0.28038	-1.0056	10	0.40728	T	0.16	-18.6796	17.9682	0.89105	0.0:1.0:0.0:0.0	.	357;357;415	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	K	357;357;415;357	ENSP00000249883:E357K;ENSP00000409999:E357K;ENSP00000424765:E415K;ENSP00000425475:E357K	ENSP00000249883:E357K	E	-	1	0	AMOTL2	135567932	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.651000	0.83577	2.480000	0.83734	0.462000	0.41574	GAG	AMOTL2	-	NULL		0.567	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	AMOTL2	HGNC	protein_coding	OTTHUMT00000358149.1	C	NM_016201		134085242	-1	no_errors	ENST00000249883	ensembl	human	known	70_37	missense	SNP	1.000	T
AMPD1	270	genome.wustl.edu	37	1	115220031	115220031	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:115220031G>C	ENST00000520113.2	-	10	1443	c.1428C>G	c.(1426-1428)ttC>ttG	p.F476L	AMPD1_ENST00000369538.3_Missense_Mutation_p.F472L|AMPD1_ENST00000353928.6_Missense_Mutation_p.F443L			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	476					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.F476L(1)|p.F443L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GATTGCAGACGAACCAGGAGG	0.562																																																	2	Substitution - Missense(2)	lung(2)											130.0	111.0	118.0					1																	115220031		2203	4300	6503	SO:0001583	missense	270			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1428C>G	1.37:g.115220031G>C	ENSP00000430075:p.Phe476Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.F476L	ENST00000520113.2	37	c.1428	CCDS876.2	1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800622	0.50315	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.82167	-1.58;-1.58;-1.58	5.85	0.15	0.14883	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	T	0.80330	0.4603	L	0.49126	1.545	0.54753	D	0.999989	D;D	0.89917	1.0;0.995	D;D	0.85130	0.997;0.97	T	0.76534	-0.2924	10	0.23302	T	0.38	-19.9147	11.3336	0.49490	0.6802:0.0:0.3198:0.0	.	472;443	Q5TF02;P23109	.;AMPD1_HUMAN	L	476;472;443	ENSP00000430075:F476L;ENSP00000358551:F472L;ENSP00000316520:F443L	ENSP00000316520:F443L	F	-	3	2	AMPD1	115021554	0.840000	0.29493	0.989000	0.46669	0.480000	0.33159	-0.037000	0.12164	-0.148000	0.11234	-0.367000	0.07326	TTC	AMPD1	-	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase		0.562	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	HGNC	protein_coding	OTTHUMT00000032860.4	G			115220031	-1	no_errors	ENST00000520113	ensembl	human	known	70_37	missense	SNP	0.995	C
ANK2	287	genome.wustl.edu	37	4	114117523	114117523	+	Splice_Site	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:114117523G>C	ENST00000357077.4	+	3	239		c.e3-1		ANK2_ENST00000264366.6_Splice_Site|ANK2_ENST00000506722.1_Splice_Site|ANK2_ENST00000394537.3_Splice_Site	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTTCTCTCAGAATGGACTCA	0.502																																																	0													66.0	67.0	67.0					4																	114117523		2203	4300	6503	SO:0001630	splice_region_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.187-1G>C	4.37:g.114117523G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Splice_Site	SNP	-	e3-1	ENST00000357077.4	37	c.187-1	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561298	0.65538	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000508613;ENST00000511380;ENST00000343056	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6173	0.84919	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANK2	114336972	1.000000	0.71417	0.994000	0.49952	0.738000	0.42128	9.508000	0.98000	2.319000	0.78375	0.655000	0.94253	.	ANK2	-	-		0.502	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	G	NM_001148	Intron	114117523	+1	no_errors	ENST00000357077	ensembl	human	known	70_37	splice_site	SNP	1.000	C
ANK2	287	genome.wustl.edu	37	4	114278343	114278343	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:114278343G>C	ENST00000357077.4	+	38	8622	c.8569G>C	c.(8569-8571)Gaa>Caa	p.E2857Q	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2824Q|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2857					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTTGGTATCTGAAGGAAAAGA	0.393																																																	0													95.0	96.0	96.0					4																	114278343		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8569G>C	4.37:g.114278343G>C	ENSP00000349588:p.Glu2857Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E2857Q	ENST00000357077.4	37	c.8569	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556849	0.27827	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.69685	-0.39;-0.42	5.75	4.91	0.64330	.	0.343001	0.24585	N	0.037280	T	0.59211	0.2177	L	0.50333	1.59	0.80722	D	1	B;B	0.23377	0.051;0.084	B;B	0.26094	0.03;0.066	T	0.54153	-0.8336	9	.	.	.	.	10.4062	0.44258	0.0886:0.0:0.9114:0.0	.	2824;2857	Q01484;Q01484-4	ANK2_HUMAN;.	Q	2857;2824	ENSP00000349588:E2857Q;ENSP00000264366:E2824Q	.	E	+	1	0	ANK2	114497792	0.952000	0.32445	0.519000	0.27824	0.700000	0.40528	2.001000	0.40825	1.430000	0.47334	0.650000	0.86243	GAA	ANK2	-	NULL		0.393	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	G	NM_001148		114278343	+1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	0.731	C
ANK3	288	genome.wustl.edu	37	10	61802484	61802484	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:61802484C>G	ENST00000280772.2	-	43	13290	c.13099G>C	c.(13099-13101)Gaa>Caa	p.E4367Q	ANK3_ENST00000355288.2_Missense_Mutation_p.E991Q|ANK3_ENST00000503366.1_Missense_Mutation_p.E1858Q|ANK3_ENST00000373827.2_Missense_Mutation_p.E1851Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4367					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCCGGATTTCTTTCTTCGTT	0.403																																																	0													283.0	261.0	268.0					10																	61802484		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.13099G>C	10.37:g.61802484C>G	ENSP00000280772:p.Glu4367Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E4367Q	ENST00000280772.2	37	c.13099	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603447	0.87157	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000502769;ENST00000355288;ENST00000503366;ENST00000395299;ENST00000373817	T;T;T;T;T;T	0.79033	-0.2;-0.44;-1.23;0.23;0.2;-0.44	5.79	5.79	0.91817	.	0.000000	0.41396	D	0.000881	T	0.82259	0.4998	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.981;0.981;0.981;0.993;0.989;0.981;0.998	D;D;D;D;D;D;D	0.78314	0.932;0.932;0.932;0.979;0.969;0.932;0.991	T	0.83322	-0.0017	10	0.56958	D	0.05	.	18.2115	0.89872	0.0:1.0:0.0:0.0	.	1858;990;1851;4367;1091;991;390	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.;.;.;ANK3_HUMAN;.;.;.	Q	4367;1851;449;156;991;1858;1837;1091	ENSP00000280772:E4367Q;ENSP00000362933:E1851Q;ENSP00000362926:E449Q;ENSP00000423057:E156Q;ENSP00000347436:E991Q;ENSP00000425236:E1858Q	ENSP00000280772:E4367Q	E	-	1	0	ANK3	61472490	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.351000	0.66022	2.728000	0.93425	0.561000	0.74099	GAA	ANK3	-	NULL		0.403	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61802484	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	G
ANK3	288	genome.wustl.edu	37	10	61834248	61834248	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:61834248C>G	ENST00000280772.2	-	37	6582	c.6391G>C	c.(6391-6393)Gaa>Caa	p.E2131Q	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2131					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTCTTGTTTCAAAGCCACTG	0.423																																																	0													105.0	98.0	101.0					10																	61834248		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6391G>C	10.37:g.61834248C>G	ENSP00000280772:p.Glu2131Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E2131Q	ENST00000280772.2	37	c.6391	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000134	0.74818	.	.	ENSG00000151150	ENST00000280772	T	0.58797	0.31	5.8	5.8	0.92144	.	0.000000	0.43416	D	0.000568	T	0.75162	0.3812	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.73360	-0.4007	10	0.48119	T	0.1	.	20.0609	0.97674	0.0:1.0:0.0:0.0	.	2131	Q12955	ANK3_HUMAN	Q	2131	ENSP00000280772:E2131Q	ENSP00000280772:E2131Q	E	-	1	0	ANK3	61504254	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.999000	0.70665	2.755000	0.94549	0.655000	0.94253	GAA	ANK3	-	NULL		0.423	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61834248	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	G
ANKFN1	162282	genome.wustl.edu	37	17	54543853	54543853	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:54543853C>G	ENST00000318698.2	+	14	1738	c.1703C>G	c.(1702-1704)tCa>tGa	p.S568*	ANKFN1_ENST00000566473.2_Nonsense_Mutation_p.S568*	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	568										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATGCAGATCTCAAAGCTGCAA	0.393																																																	0													87.0	79.0	82.0					17																	54543853		2203	4300	6503	SO:0001587	stop_gained	162282			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1703C>G	17.37:g.54543853C>G	ENSP00000321627:p.Ser568*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.S568*	ENST00000318698.2	37	c.1703	CCDS32686.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.892051	0.97074	.	.	ENSG00000153930	ENST00000318698	.	.	.	5.45	5.45	0.79879	.	0.238105	0.42821	D	0.000643	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.8637	19.2944	0.94117	0.0:1.0:0.0:0.0	.	.	.	.	X	568	.	ENSP00000321627:S568X	S	+	2	0	ANKFN1	51898852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.784000	0.68990	2.561000	0.86390	0.655000	0.94253	TCA	ANKFN1	-	NULL		0.393	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	C	NM_153228		54543853	+1	no_errors	ENST00000318698	ensembl	human	known	70_37	nonsense	SNP	1.000	G
ANKHD1	54882	genome.wustl.edu	37	5	139884447	139884447	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:139884447C>T	ENST00000360839.2	+	16	3200	c.3046C>T	c.(3046-3048)Cag>Tag	p.Q1016*	ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.Q1016*|ANKHD1_ENST00000297183.6_Nonsense_Mutation_p.Q1016*	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1016						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCTTCTCAGACCACAGA	0.423																																																	0													146.0	133.0	137.0					5																	139884447		2203	4300	6503	SO:0001587	stop_gained	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3046C>T	5.37:g.139884447C>T	ENSP00000354085:p.Gln1016*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.Q1016*	ENST00000360839.2	37	c.3046	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	C	43	10.097740	0.99336	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	.	.	.	5.22	5.22	0.72569	.	0.232067	0.37136	N	0.002237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	18.7978	0.92003	0.0:1.0:0.0:0.0	.	.	.	.	X	1016;1049;1016;1016;550;227;1035;169;1016	.	ENSP00000432016:Q1016X	Q	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139864631	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.963000	0.76055	2.443000	0.82685	0.650000	0.86243	CAG	ANKHD1	-	pfscan_Ankyrin_rpt-contain_dom		0.423	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	C	NM_017747		139884447	+1	no_errors	ENST00000297183	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ANKRD26	22852	genome.wustl.edu	37	10	27301906	27301906	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:27301906C>T	ENST00000376087.4	-	32	5023	c.4858G>A	c.(4858-4860)Gat>Aat	p.D1620N	ANKRD26_ENST00000376070.3_Missense_Mutation_p.D1177N|ANKRD26_ENST00000436985.2_Missense_Mutation_p.D1636N	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1619					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CTGTTGAGATCTAAACTATTA	0.408																																																	0													137.0	131.0	133.0					10																	27301906		1864	4105	5969	SO:0001583	missense	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4858G>A	10.37:g.27301906C>T	ENSP00000365255:p.Asp1620Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D1636N	ENST00000376087.4	37	c.4906	CCDS41499.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.15|11.15	1.553488|1.553488	0.27739|0.27739	.|.	.|.	ENSG00000107890|ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985|ENST00000445828	T;T;T|.	0.30714|.	1.52;1.52;1.52|.	4.56|4.56	-1.58|-1.58	0.08479|0.08479	.|.	.|.	.|.	.|.	.|.	T|T	0.10551|0.10551	0.0258|0.0258	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B|.	0.29716|.	0.059;0.073;0.255|.	B;B;B|.	0.30251|.	0.047;0.078;0.113|.	T|T	0.25950|0.25950	-1.0117|-1.0117	9|5	0.49607|.	T|.	0.09|.	.|.	0.9452|0.9452	0.01364|0.01364	0.1559:0.3791:0.1525:0.3125|0.1559:0.3791:0.1525:0.3125	.|.	1620;1619;1636|.	Q9UPS8-3;Q9UPS8;A1L497|.	.;ANR26_HUMAN;.|.	N|K	1177;1620;1636|107	ENSP00000365238:D1177N;ENSP00000365255:D1620N;ENSP00000405112:D1636N|.	ENSP00000365238:D1177N|.	D|R	-|-	1|2	0|0	ANKRD26|ANKRD26	27341912|27341912	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.047000|0.047000	0.14425|0.14425	-0.002000|-0.002000	0.12924|0.12924	-0.278000|-0.278000	0.09180|0.09180	0.297000|0.297000	0.19635|0.19635	GAT|AGA	ANKRD26	-	pfam_DUF3496		0.408	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	C			27301906	-1	no_errors	ENST00000436985	ensembl	human	known	70_37	missense	SNP	0.000	T
ANKRD44	91526	genome.wustl.edu	37	2	197943531	197943531	+	Missense_Mutation	SNP	C	C	G	rs369157403		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:197943531C>G	ENST00000328737.2	-	16	1547	c.1471G>C	c.(1471-1473)Gag>Cag	p.E491Q	ANKRD44_ENST00000337207.5_Missense_Mutation_p.E491Q|ANKRD44_ENST00000409153.1_Missense_Mutation_p.E516Q|ANKRD44_ENST00000450567.1_Missense_Mutation_p.E491Q|ANKRD44_ENST00000282272.8_Missense_Mutation_p.E508Q|ANKRD44_ENST00000477852.1_5'Flank|ANKRD44_ENST00000539527.1_Missense_Mutation_p.E444Q			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	516										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGCAGAAACTCTAGACATCTG	0.383																																																	0								C	GLN/GLU	1,4405	2.1+/-5.4	0,1,2202	96.0	89.0	92.0		1546	5.2	1.0	2		92	0,8600		0,0,4300	no	missense	ANKRD44	NM_001195144.1	29	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	516/994	197943531	1,13005	2203	4300	6503	SO:0001583	missense	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1471G>C	2.37:g.197943531C>G	ENSP00000331516:p.Glu491Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E491Q	ENST00000328737.2	37	c.1471		2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640373	0.87859	2.27E-4	0.0	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527	T;T;T;T;T;T;T;T	0.72394	-0.17;0.03;-0.17;-0.17;0.03;-0.17;-0.17;-0.65	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	L	0.35487	1.065	0.80722	D	1	P;D;D	0.69078	0.562;0.995;0.997	B;D;D	0.81914	0.413;0.995;0.995	T	0.71434	-0.4594	10	0.23302	T	0.38	.	19.3941	0.94598	0.0:1.0:0.0:0.0	.	444;516;534	F5H682;Q8N8A2-3;Q8N8A2-2	.;.;.	Q	331;508;491;491;491;191;516;444	ENSP00000403415:E331Q;ENSP00000282272:E508Q;ENSP00000331516:E491Q;ENSP00000402420:E491Q;ENSP00000338794:E491Q;ENSP00000416319:E191Q;ENSP00000387141:E516Q;ENSP00000437825:E444Q	ENSP00000282272:E508Q	E	-	1	0	ANKRD44	197651776	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	7.609000	0.82925	2.885000	0.99019	0.655000	0.94253	GAG	ANKRD44	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.383	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	ANKRD44	HGNC	protein_coding	OTTHUMT00000335113.1	C	NM_153697		197943531	-1	no_errors	ENST00000328737	ensembl	human	known	70_37	missense	SNP	1.000	G
KB-7G2.8	0	genome.wustl.edu	37	22	17156394	17156394	+	lincRNA	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:17156394G>C	ENST00000423580.2	-	0	1750				ANKRD62P1-PARP4P3_ENST00000338526.6_RNA																							TCTTTTCTTTGAGAGCCTCTC	0.423																																																	0																																												23783																															22.37:g.17156394G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000423580.2	37	NULL		22																																																																																			ANKRD62P1-PARP4P3	-	-		0.423	KB-7G2.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	ANKRD62P1-PARP4P3	HGNC	lincRNA	OTTHUMT00000418976.1	G			17156394	-1	no_errors	ENST00000338526	ensembl	human	known	70_37	rna	SNP	0.907	C
ANKRD54	129138	genome.wustl.edu	37	22	38227805	38227805	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:38227805C>T	ENST00000215941.4	-	0	1240				ANKRD54_ENST00000498417.1_5'UTR	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54						nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					GAGAGAGCATCTCTGCCCCAC	0.582																																																	0																																										SO:0001624	3_prime_UTR_variant	129138			BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"""Ankyrin repeat domain containing"""	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.*145G>A	22.37:g.38227805C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZSB1|Q9UGV1	RNA	SNP	-	NULL	ENST00000215941.4	37	NULL	CCDS13959.1	22																																																																																			ANKRD54	-	-		0.582	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD54	HGNC	protein_coding	OTTHUMT00000319490.1	C	NM_138797		38227805	-1	no_errors	ENST00000498417	ensembl	human	known	70_37	rna	SNP	0.000	T
ANKS3	124401	genome.wustl.edu	37	16	4750748	4750748	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:4750748G>C	ENST00000304283.4	-	11	1579				ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000450067.2_Missense_Mutation_p.P297A	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3											endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GGAAAGCAGGGAGACAGGTCC	0.587																																																	0																																										SO:0001627	intron_variant	124401			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1284+222C>G	16.37:g.4750748G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	NULL	p.P297A	ENST00000304283.4	37	c.889	CCDS10520.1	16	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308971	0.23821	.	.	ENSG00000168096	ENST00000450067	T	0.51071	0.72	2.25	2.25	0.28309	.	.	.	.	.	T	0.44953	0.1318	.	.	.	0.09310	N	1	P	0.38110	0.618	B	0.43386	0.418	T	0.40156	-0.9578	8	0.87932	D	0	.	8.099	0.30846	0.0:0.0:1.0:0.0	.	297	Q6ZWA7	.	A	297	ENSP00000388270:P297A	ENSP00000388270:P297A	P	-	1	0	ANKS3	4690749	0.046000	0.20272	0.003000	0.11579	0.036000	0.12997	2.651000	0.46674	1.594000	0.50039	0.462000	0.41574	CCC	ANKS3	-	NULL		0.587	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS3	HGNC	protein_coding	OTTHUMT00000251642.3	G	NM_133450		4750748	-1	no_errors	ENST00000450067	ensembl	human	known	70_37	missense	SNP	0.003	C
ANO10	55129	genome.wustl.edu	37	3	43621890	43621890	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:43621890C>G	ENST00000292246.3	-	5	717	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	ANO10_ENST00000414522.2_Missense_Mutation_p.E183Q|ANO10_ENST00000350459.4_Missense_Mutation_p.E183Q|ANO10_ENST00000451430.2_Missense_Mutation_p.E72Q|ANO10_ENST00000396091.3_Missense_Mutation_p.E117Q	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	183					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CAGGTGTCCTCAAGCTTCTTC	0.463																																																	0													201.0	157.0	172.0					3																	43621890		2203	4300	6503	SO:0001583	missense	55129			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.547G>C	3.37:g.43621890C>G	ENSP00000292246:p.Glu183Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	pfam_Anoctamin	p.E183Q	ENST00000292246.3	37	c.547	CCDS2710.2	3	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780067	0.31502	.	.	ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000414522;ENST00000451430;ENST00000428472	T;T;T;T;T;T	0.69435	0.26;-0.4;0.26;0.29;0.1;-0.04	5.61	5.61	0.85477	.	0.246954	0.44097	D	0.000498	T	0.41743	0.1172	N	0.12569	0.235	0.20403	N	0.999901	B;B;P;B;B	0.37276	0.099;0.027;0.589;0.046;0.027	B;B;B;B;B	0.33454	0.045;0.027;0.164;0.022;0.027	T	0.30179	-0.9987	10	0.30854	T	0.27	.	6.1177	0.20136	0.1396:0.653:0.1347:0.0727	.	72;183;183;117;183	Q9NW15-4;C9JHS1;Q9NW15-2;Q9NW15-3;Q9NW15	.;.;.;.;ANO10_HUMAN	Q	183;183;117;183;72;72	ENSP00000292246:E183Q;ENSP00000327767:E183Q;ENSP00000379398:E117Q;ENSP00000396990:E183Q;ENSP00000394119:E72Q;ENSP00000416266:E72Q	ENSP00000292246:E183Q	E	-	1	0	ANO10	43596894	0.656000	0.27385	0.961000	0.40146	0.988000	0.76386	1.398000	0.34554	2.632000	0.89209	0.591000	0.81541	GAG	ANO10	-	NULL		0.463	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO10	HGNC	protein_coding	OTTHUMT00000256649.2	C	NM_018075		43621890	-1	no_errors	ENST00000292246	ensembl	human	known	70_37	missense	SNP	0.387	G
ANO2	57101	genome.wustl.edu	37	12	5685071	5685071	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:5685071G>C	ENST00000356134.5	-	25	2624	c.2553C>G	c.(2551-2553)ttC>ttG	p.F851L	ANO2_ENST00000327087.8_Missense_Mutation_p.F850L|ANO2_ENST00000546188.1_Missense_Mutation_p.F851L	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	855					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGCTGACGTTGAAAAAGGAGA	0.527																																																	0													67.0	69.0	68.0					12																	5685071		1939	4153	6092	SO:0001583	missense	57101			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2553C>G	12.37:g.5685071G>C	ENSP00000348453:p.Phe851Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	C4N787|Q9H847	Missense_Mutation	SNP	pfam_Anoctamin	p.F851L	ENST00000356134.5	37	c.2553		12	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131423	0.77549	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.70749	-0.51;-0.51;-0.51	5.28	3.46	0.39613	.	0.000000	0.85682	D	0.000000	D	0.85779	0.5776	M	0.91406	3.205	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.87103	0.2180	10	0.72032	D	0.01	.	11.5498	0.50715	0.1459:0.0:0.8541:0.0	.	850	Q9NQ90-3	.	L	850;851;851;855	ENSP00000314048:F850L;ENSP00000348453:F851L;ENSP00000440981:F851L	ENSP00000314048:F850L	F	-	3	2	ANO2	5555332	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.874000	0.48483	0.729000	0.32403	-0.133000	0.14855	TTC	ANO2	-	pfam_Anoctamin		0.527	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	G	NM_020373		5685071	-1	no_errors	ENST00000356134	ensembl	human	known	70_37	missense	SNP	1.000	C
AOX1	316	genome.wustl.edu	37	2	201457893	201457893	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:201457893G>A	ENST00000374700.2	+	2	311	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	24	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGTCGATCCTGAAACAATGCT	0.338																																																	0													266.0	230.0	242.0					2																	201457893		2203	4300	6503	SO:0001583	missense	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.70G>A	2.37:g.201457893G>A	ENSP00000363832:p.Glu24Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.E24K	ENST00000374700.2	37	c.70	CCDS33360.1	2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700268	0.88924	.	.	ENSG00000138356	ENST00000374700	T	0.25414	1.8	5.31	5.31	0.75309	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.056287	0.64402	D	0.000001	T	0.52386	0.1731	M	0.79614	2.46	0.80722	D	1	D	0.61080	0.989	D	0.64877	0.93	T	0.55522	-0.8128	10	0.87932	D	0	-51.4499	17.9171	0.88954	0.0:0.0:1.0:0.0	.	24	Q06278	ADO_HUMAN	K	24	ENSP00000363832:E24K	ENSP00000363832:E24K	E	+	1	0	AOX1	201166138	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	8.252000	0.89840	2.754000	0.94517	0.655000	0.94253	GAA	AOX1	-	pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase		0.338	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	G	NM_001159		201457893	+1	no_errors	ENST00000374700	ensembl	human	known	70_37	missense	SNP	1.000	A
AOX1	316	genome.wustl.edu	37	2	201531455	201531455	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:201531455C>T	ENST00000374700.2	+	32	3830	c.3589C>T	c.(3589-3591)Cca>Tca	p.P1197S	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1197					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CAGTATAAATCCAGCCATTGA	0.383																																																	0													109.0	103.0	105.0					2																	201531455		2203	4300	6503	SO:0001583	missense	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3589C>T	2.37:g.201531455C>T	ENSP00000363832:p.Pro1197Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.P1197S	ENST00000374700.2	37	c.3589	CCDS33360.1	2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876176	0.91664	.	.	ENSG00000138356	ENST00000374700;ENST00000260930;ENST00000439380	T;T;T	0.72394	-0.65;-0.65;0.12	5.09	5.09	0.68999	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	D	0.89646	0.6775	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92462	0.5978	10	0.87932	D	0	-34.956	19.0499	0.93039	0.0:1.0:0.0:0.0	.	1197	Q06278	ADO_HUMAN	S	1197;83;37	ENSP00000363832:P1197S;ENSP00000260930:P83S;ENSP00000413326:P37S	ENSP00000260930:P83S	P	+	1	0	AOX1	201239700	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.259000	0.78381	2.809000	0.96659	0.467000	0.42956	CCA	AOX1	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase		0.383	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	C	NM_001159		201531455	+1	no_errors	ENST00000374700	ensembl	human	known	70_37	missense	SNP	1.000	T
AOX2P	344454	genome.wustl.edu	37	2	201623719	201623719	+	IGR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:201623719G>A								AC007163.3 (23819 upstream) : AOX2P (3311 downstream)																							TGATCGTGAAGATGATATGCT	0.368																																																	0																																										SO:0001628	intergenic_variant	344454																															2.37:g.201623719G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		2																																																																																			AOX2P	-	-	0	0.368					AOX2P	HGNC			G			201623719	+1	no_errors	ENST00000470911	ensembl	human	known	70_37	rna	SNP	1.000	A
AOX2P	344454	genome.wustl.edu	37	2	201623722	201623722	+	IGR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:201623722G>A								AC007163.3 (23822 upstream) : AOX2P (3308 downstream)																							TCGTGAAGATGATATGCTAAT	0.373																																																	0																																										SO:0001628	intergenic_variant	344454																															2.37:g.201623722G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		2																																																																																			AOX2P	-	-	0	0.373					AOX2P	HGNC			G			201623722	+1	no_errors	ENST00000470911	ensembl	human	known	70_37	rna	SNP	1.000	A
AP2A2	161	genome.wustl.edu	37	11	1008050	1008050	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:1008050G>C	ENST00000448903.2	+	18	2476	c.2335G>C	c.(2335-2337)Gag>Cag	p.E779Q	AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000332231.5_Missense_Mutation_p.E780Q|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	779					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCGACCGTGGAGGGGGGCGC	0.627																																																	0													21.0	26.0	24.0					11																	1008050		2032	4151	6183	SO:0001583	missense	161			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.2335G>C	11.37:g.1008050G>C	ENSP00000413234:p.Glu779Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.E780Q	ENST00000448903.2	37	c.2338	CCDS44512.1	11	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829566	0.32329	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000529125;ENST00000452310	T;T	0.45276	0.9;0.9	4.12	4.12	0.48240	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, alpha-adaptin, appendage, Ig-like subdomain (1);	0.119201	0.53938	D	0.000041	T	0.35740	0.0942	L	0.35288	1.05	0.49798	D	0.999829	B	0.24186	0.099	B	0.32090	0.14	T	0.12837	-1.0532	10	0.16420	T	0.52	-59.0921	17.2253	0.86967	0.0:0.0:1.0:0.0	.	779	O94973	AP2A2_HUMAN	Q	779;780;516;519	ENSP00000413234:E779Q;ENSP00000327694:E780Q	ENSP00000327694:E780Q	E	+	1	0	AP2A2	998050	1.000000	0.71417	0.999000	0.59377	0.501000	0.33797	7.732000	0.84908	2.244000	0.73946	0.185000	0.17295	GAG	AP2A2	-	pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu		0.627	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP2A2	HGNC	protein_coding	OTTHUMT00000385431.2	G	NM_012305		1008050	+1	no_errors	ENST00000332231	ensembl	human	known	70_37	missense	SNP	1.000	C
AP2B1	163	genome.wustl.edu	37	17	33951604	33951604	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:33951604G>C	ENST00000262325.7	+	6	1267	c.714G>C	c.(712-714)caG>caC	p.Q238H	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Missense_Mutation_p.Q238H|AP2B1_ENST00000537622.2_Missense_Mutation_p.Q238H|AP2B1_ENST00000592545.1_Missense_Mutation_p.Q200H|AP2B1_ENST00000538556.1_Missense_Mutation_p.Q181H|AP2B1_ENST00000589344.1_Missense_Mutation_p.Q238H	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	238					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GGGAGGCTCAGAGGTCAGTCT	0.468																																																	0													65.0	62.0	63.0					17																	33951604		2203	4300	6503	SO:0001583	missense	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.714G>C	17.37:g.33951604G>C	ENSP00000262325:p.Gln238His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.Q238H	ENST00000262325.7	37	c.714	CCDS32622.1	17	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601606	0.46423	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.82	4.85	0.62838	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.050772	0.85682	D	0.000000	T	0.24547	0.0595	L	0.42632	1.34	0.80722	D	1	B;B;B	0.22346	0.068;0.05;0.008	B;B;B	0.25759	0.063;0.025;0.01	T	0.04870	-1.0921	10	0.87932	D	0	-11.3979	11.9272	0.52827	0.1444:0.0:0.8556:0.0	.	200;238;238	B4DWG4;P63010;P63010-2	.;AP2B1_HUMAN;.	H	238;238;181;238	ENSP00000262325:Q238H;ENSP00000314414:Q238H;ENSP00000440563:Q181H;ENSP00000437413:Q238H	ENSP00000262325:Q238H	Q	+	3	2	AP2B1	30975717	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.789000	0.38724	1.467000	0.48044	0.655000	0.94253	CAG	AP2B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4		0.468	AP2B1-001	KNOWN	basic|CCDS	protein_coding	AP2B1	HGNC	protein_coding	OTTHUMT00000448969.1	G			33951604	+1	no_errors	ENST00000312678	ensembl	human	known	70_37	missense	SNP	1.000	C
APAF1	317	genome.wustl.edu	37	12	99120964	99120964	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:99120964C>G	ENST00000551964.1	+	26	4206	c.3470C>G	c.(3469-3471)tCa>tGa	p.S1157*	APAF1_ENST00000333991.1_Intron|APAF1_ENST00000549007.1_Nonsense_Mutation_p.S1072*|APAF1_ENST00000547045.1_Nonsense_Mutation_p.S1114*|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Nonsense_Mutation_p.S1103*|APAF1_ENST00000550527.1_Nonsense_Mutation_p.S1146*|APAF1_ENST00000339433.3_Nonsense_Mutation_p.S1072*|APAF1_ENST00000357310.1_Nonsense_Mutation_p.S1114*	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1157					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TGGAATGTCTCAAACGGTGAG	0.393																																																	0													112.0	112.0	112.0					12																	99120964		2203	4300	6503	SO:0001587	stop_gained	317			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.3470C>G	12.37:g.99120964C>G	ENSP00000448165:p.Ser1157*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.S1157*	ENST00000551964.1	37	c.3470	CCDS9069.1	12	.	.	.	.	.	.	.	.	.	.	C	42	9.591896	0.99214	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	.	.	.	5.24	4.36	0.52297	.	0.791890	0.11841	N	0.524274	.	.	.	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-18.9321	5.901	0.18965	0.1548:0.676:0.0:0.1693	.	.	.	.	X	1157;1103;1114;1072;1146;1114;1072	.	ENSP00000341830:S1072X	S	+	2	0	APAF1	97645095	0.824000	0.29247	0.713000	0.30519	0.090000	0.18270	1.689000	0.37700	1.216000	0.43427	-0.142000	0.14014	TCA	APAF1	-	superfamily_WD40_repeat_dom,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.393	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	C	NM_181861.1		99120964	+1	no_errors	ENST00000551964	ensembl	human	known	70_37	nonsense	SNP	0.706	G
APCDD1	147495	genome.wustl.edu	37	18	10468599	10468599	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:10468599G>A	ENST00000355285.5	+	2	546	c.192G>A	c.(190-192)agG>agA	p.R64R	APCDD1_ENST00000578882.1_Silent_p.R64R	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		ATGGTGCAAGGATCACAGTGC	0.542																																																	0													101.0	87.0	92.0					18																	10468599		2203	4300	6503	SO:0001819	synonymous_variant	147495			AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.192G>A	18.37:g.10468599G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.R64	ENST00000355285.5	37	c.192	CCDS11849.1	18																																																																																			APCDD1	-	NULL		0.542	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCDD1	HGNC	protein_coding	OTTHUMT00000254529.2	G	NM_153000		10468599	+1	no_errors	ENST00000355285	ensembl	human	known	70_37	silent	SNP	0.982	A
APOA1BP	128240	genome.wustl.edu	37	1	156563345	156563345	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:156563345C>G	ENST00000368235.3	+	5	705	c.662C>G	c.(661-663)tCa>tGa	p.S221*	APOA1BP_ENST00000368234.3_Silent_p.L202L|APOA1BP_ENST00000368233.3_Nonsense_Mutation_p.S221*|GPATCH4_ENST00000497287.1_5'Flank	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACATTCCCTCAGGTGCTGGG	0.557																																																	0													77.0	66.0	70.0					1																	156563345		2203	4300	6503	SO:0001587	stop_gained	128240			AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.662C>G	1.37:g.156563345C>G	ENSP00000357218:p.Ser221*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom	p.S221*	ENST00000368235.3	37	c.662	CCDS1145.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.162021	0.97338	.	.	ENSG00000163382	ENST00000446584;ENST00000368235;ENST00000368233	.	.	.	5.55	5.55	0.83447	.	0.147551	0.47852	D	0.000204	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.3331	16.9987	0.86376	0.0:1.0:0.0:0.0	.	.	.	.	X	239;221;221	.	ENSP00000357216:S221X	S	+	2	0	APOA1BP	154829969	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.808000	0.69165	2.594000	0.87642	0.655000	0.94253	TCA	APOA1BP	-	pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom		0.557	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA1BP	HGNC	protein_coding	OTTHUMT00000081044.1	C	NM_144772		156563345	+1	no_errors	ENST00000368235	ensembl	human	known	70_37	nonsense	SNP	1.000	G
APOB	338	genome.wustl.edu	37	2	21225910	21225910	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:21225910C>T	ENST00000233242.1	-	29	12511	c.12384G>A	c.(12382-12384)gtG>gtA	p.V4128V	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4128			V -> M (in dbSNP:rs1801703). {ECO:0000269|PubMed:8889592}.	V -> E (in Ref. 3; AAA35549 and 24; AAA51742). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGGAACCTCACGTCGATAT	0.498																																																	0													136.0	130.0	132.0					2																	21225910		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12384G>A	2.37:g.21225910C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.V4128	ENST00000233242.1	37	c.12384	CCDS1703.1	2																																																																																			APOB	-	NULL		0.498	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21225910	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	silent	SNP	0.000	T
APOB	338	genome.wustl.edu	37	2	21256266	21256266	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:21256266C>A	ENST00000233242.1	-	9	1156	c.1029G>T	c.(1027-1029)caG>caT	p.Q343H	APOB_ENST00000399256.4_Missense_Mutation_p.Q343H	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	343	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATTAGCTCTCTGGATATTTT	0.463																																																	0													148.0	142.0	144.0					2																	21256266		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1029G>T	2.37:g.21256266C>A	ENSP00000233242:p.Gln343His	Somatic		WXS	Illumina HiSeq	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q343H	ENST00000233242.1	37	c.1029	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852213	0.32699	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.68479	-0.33;-0.33	5.53	3.64	0.41730	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.111526	0.40222	N	0.001146	T	0.65698	0.2716	M	0.76574	2.34	0.38594	D	0.950496	B	0.22003	0.063	B	0.29598	0.104	T	0.68629	-0.5358	10	0.56958	D	0.05	.	9.1531	0.36976	0.0:0.7394:0.1225:0.1381	.	343	P04114	APOB_HUMAN	H	343	ENSP00000233242:Q343H;ENSP00000382200:Q343H	ENSP00000233242:Q343H	Q	-	3	2	APOB	21109771	1.000000	0.71417	0.983000	0.44433	0.137000	0.21094	1.682000	0.37628	1.487000	0.48415	0.655000	0.94253	CAG	APOB	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21256266	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.992	A
APOBEC1	339	genome.wustl.edu	37	12	7802149	7802149	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:7802149C>T	ENST00000229304.4	-	5	725	c.705G>A	c.(703-705)tgG>tgA	p.W235*		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	235					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTATTCATCTCCAAGCCACAG	0.403																																					Pancreas(135;929 1826 4531 10527 41012)												0													153.0	141.0	145.0					12																	7802149		2203	4300	6503	SO:0001587	stop_gained	339			U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.705G>A	12.37:g.7802149C>T	ENSP00000229304:p.Trp235*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UE64|Q9UM71	Nonsense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.W235*	ENST00000229304.4	37	c.705	CCDS8579.1	12	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030578	0.54790	.	.	ENSG00000111701	ENST00000229304	.	.	.	3.79	3.79	0.43588	.	0.712994	0.11601	N	0.547730	.	.	.	.	.	.	0.20873	N	0.999835	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1561	11.3613	0.49644	0.0:1.0:0.0:0.0	.	.	.	.	X	235	.	ENSP00000229304:W235X	W	-	3	0	APOBEC1	7693416	0.997000	0.39634	0.990000	0.47175	0.246000	0.25737	0.605000	0.24179	2.110000	0.64415	0.591000	0.81541	TGG	APOBEC1	-	NULL		0.403	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC1	HGNC	protein_coding	OTTHUMT00000280523.1	C	NM_001644		7802149	-1	no_errors	ENST00000229304	ensembl	human	known	70_37	nonsense	SNP	0.998	T
APOL6	80830	genome.wustl.edu	37	22	36055124	36055124	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:36055124C>T	ENST00000409652.4	+	3	789	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	171					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						GAAAGATTATCTATAATCTTA	0.498																																																	0													61.0	62.0	62.0					22																	36055124		2203	4300	6503	SO:0001819	synonymous_variant	80830			AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"""Apolipoproteins"""	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.513C>T	22.37:g.36055124C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Silent	SNP	pfam_ApoL	p.I171	ENST00000409652.4	37	c.513	CCDS13919.1	22																																																																																			APOL6	-	pfam_ApoL		0.498	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL6	HGNC	protein_coding	OTTHUMT00000319081.2	C	NM_030641		36055124	+1	no_errors	ENST00000409652	ensembl	human	known	70_37	silent	SNP	0.000	T
AQP5	362	genome.wustl.edu	37	12	50357352	50357352	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:50357352C>T	ENST00000293599.6	+	2	589	c.441C>T	c.(439-441)ttC>ttT	p.F147F	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	147					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						TCTGCATCTTCGCCTCCACTG	0.627																																																	0													116.0	90.0	99.0					12																	50357352		2203	4300	6503	SO:0001819	synonymous_variant	362			U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"""Ion channels / Aquaporins"""	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.441C>T	12.37:g.50357352C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FGW8	Silent	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP	p.F147	ENST00000293599.6	37	c.441	CCDS8793.1	12																																																																																			AQP5	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP		0.627	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP5	HGNC	protein_coding	OTTHUMT00000405542.2	C	NM_001651		50357352	+1	no_errors	ENST00000293599	ensembl	human	known	70_37	silent	SNP	1.000	T
AQR	9716	genome.wustl.edu	37	15	35159783	35159783	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:35159783G>A	ENST00000156471.5	-	32	4021	c.3796C>T	c.(3796-3798)Caa>Taa	p.Q1266*		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1266					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCATTCTGTTGACCTTGAAAT	0.343																																																	0													99.0	96.0	97.0					15																	35159783		1831	4082	5913	SO:0001587	stop_gained	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3796C>T	15.37:g.35159783G>A	ENSP00000156471:p.Gln1266*	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Nonsense_Mutation	SNP	NULL	p.Q1266*	ENST00000156471.5	37	c.3796	CCDS42013.1	15	.	.	.	.	.	.	.	.	.	.	G	46	12.135656	0.99639	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-20.9439	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	X	1266	.	ENSP00000156471:Q1266X	Q	-	1	0	AQR	32947075	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.509000	0.98002	2.941000	0.99782	0.655000	0.94253	CAA	AQR	-	NULL		0.343	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	G	NM_014691		35159783	-1	no_errors	ENST00000156471	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ARF4	378	genome.wustl.edu	37	3	57582966	57582966	+	5'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:57582966G>C	ENST00000303436.6	-	0	169				RP11-755B10.4_ENST00000607782.1_RNA|ARF4_ENST00000493378.1_5'UTR|ARF4_ENST00000489843.1_5'UTR|ARF4_ENST00000496292.1_5'UTR|RP11-755B10.4_ENST00000607297.1_RNA|RP11-755B10.4_ENST00000606192.1_RNA	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4						activation of phospholipase D activity (GO:0031584)|brain development (GO:0007420)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein transport (GO:0015031)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to axon injury (GO:0048678)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	epidermal growth factor receptor binding (GO:0005154)|GTP binding (GO:0005525)			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		CGAGAGGGAAGAGAAAGAGCG	0.567																																																	0																																										SO:0001623	5_prime_UTR_variant	378			M36341	CCDS2884.1	3p21.2-p21.1	2007-03-19			ENSG00000168374	ENSG00000168374		"""ADP-ribosylation factors"""	655	protein-coding gene	gene with protein product		601177	"""ADP-ribosylation factor 2"""	ARF2		2107548	Standard	NM_001660		Approved		uc003dix.4	P18085	OTTHUMG00000158601	ENST00000303436.6:c.-99C>G	3.37:g.57582966G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7J7|P21371	RNA	SNP	-	NULL	ENST00000303436.6	37	NULL	CCDS2884.1	3																																																																																			ARF4	-	-		0.567	ARF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF4	HGNC	protein_coding	OTTHUMT00000351443.1	G	NM_001660		57582966	-1	no_errors	ENST00000489843	ensembl	human	known	70_37	rna	SNP	0.000	C
ARFGEF1	10565	genome.wustl.edu	37	8	68139489	68139489	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:68139489G>C	ENST00000262215.3	-	27	4188	c.3799C>G	c.(3799-3801)Caa>Gaa	p.Q1267E	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.Q721E|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.Q105E	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1267					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTAGCAGCTTGAGAATTAACC	0.363																																																	0													143.0	142.0	142.0					8																	68139489		2203	4300	6503	SO:0001583	missense	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3799C>G	8.37:g.68139489G>C	ENSP00000262215:p.Gln1267Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.Q1267E	ENST00000262215.3	37	c.3799	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961446	0.92791	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230;ENST00000517631	T;T;T	0.65178	-0.14;-0.08;-0.1	5.56	5.56	0.83823	Domain of unknown function DUF1981, SEC7 associated (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81997	0.4941	M	0.85373	2.75	0.80722	D	1	D;P;P	0.69078	0.997;0.949;0.949	D;P;P	0.71414	0.973;0.78;0.78	D	0.84363	0.0539	10	0.72032	D	0.01	.	19.5224	0.95190	0.0:0.0:1.0:0.0	.	1267;745;721	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	E	721;1267;105;116	ENSP00000428429:Q721E;ENSP00000262215:Q1267E;ENSP00000430891:Q105E	ENSP00000262215:Q1267E	Q	-	1	0	ARFGEF1	68302043	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.611000	0.88343	0.585000	0.79938	CAA	ARFGEF1	-	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold		0.363	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	G	NM_006421		68139489	-1	no_errors	ENST00000262215	ensembl	human	known	70_37	missense	SNP	1.000	C
ARFIP2	23647	genome.wustl.edu	37	11	6498963	6498963	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:6498963G>A	ENST00000254584.2	-	7	938	c.855C>T	c.(853-855)ttC>ttT	p.F285F	ARFIP2_ENST00000396777.3_Silent_p.F285F|ARFIP2_ENST00000445086.2_Silent_p.F200F|ARFIP2_ENST00000423813.2_Silent_p.F247F	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	285	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTTCTTCCAGGAACTTGAGCT	0.552																																					Melanoma(119;796 1674 9049 20480 24794)												0													79.0	74.0	75.0					11																	6498963		2201	4296	6497	SO:0001819	synonymous_variant	23647			BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.855C>T	11.37:g.6498963G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DX86|B4E306|D3DQT5	Silent	SNP	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom	p.F285	ENST00000254584.2	37	c.855	CCDS7765.1	11																																																																																			ARFIP2	-	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom		0.552	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARFIP2	HGNC	protein_coding	OTTHUMT00000387044.1	G	NM_012402		6498963	-1	no_errors	ENST00000254584	ensembl	human	known	70_37	silent	SNP	1.000	A
ARHGAP21	57584	genome.wustl.edu	37	10	24880833	24880833	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:24880833C>G	ENST00000396432.2	-	22	4471	c.3985G>C	c.(3985-3987)Gaa>Caa	p.E1329Q	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E1116Q	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1328	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATGAGCGTTTCTACAATCTTG	0.453																																																	0													223.0	184.0	197.0					10																	24880833		2203	4300	6503	SO:0001583	missense	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3985G>C	10.37:g.24880833C>G	ENSP00000379709:p.Glu1329Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.E1329Q	ENST00000396432.2	37	c.3985	CCDS7144.2	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.882465|4.882465	0.91740|0.91740	.|.	.|.	ENSG00000107863|ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481|ENST00000418033	T;T|.	0.12569|.	2.67;2.67|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75889|0.75889	0.3911|0.3911	M|M	0.68728|0.68728	2.09|2.09	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.72766|0.72766	-0.4194|-0.4194	10|5	0.52906|.	T|.	0.07|.	.|.	20.1041|20.1041	0.97884|0.97884	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1328|.	Q5T5U3|.	RHG21_HUMAN|.	Q|T	1329;778;1116|142	ENSP00000379709:E1329Q;ENSP00000365604:E1116Q|.	ENSP00000365604:E1116Q|.	E|R	-|-	1|2	0|0	ARHGAP21|ARHGAP21	24920839|24920839	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.812000|0.812000	0.45895|0.45895	7.770000|7.770000	0.85390|0.85390	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAA|AGA	ARHGAP21	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.453	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	C	NM_020824		24880833	-1	no_errors	ENST00000396432	ensembl	human	known	70_37	missense	SNP	1.000	G
ARHGAP8	23779	genome.wustl.edu	37	22	45210624	45210624	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:45210624G>A	ENST00000389774.2	+	6	606	c.465G>A	c.(463-465)ttG>ttA	p.L155L	ARHGAP8_ENST00000336963.4_Silent_p.L124L|ARHGAP8_ENST00000356099.6_Silent_p.L124L|ARHGAP8_ENST00000517296.3_Silent_p.L334L|ARHGAP8_ENST00000389773.5_Silent_p.L246L|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.L334L|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.L255L	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	155	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		GGAACATCTTGAAGCCCCTCA	0.572																																																	0													141.0	113.0	123.0					22																	45210624		2203	4300	6503	SO:0001819	synonymous_variant	23779			AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.465G>A	22.37:g.45210624G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.E145K	ENST00000389774.2	37	c.433	CCDS33664.1	22																																																																																			ARHGAP8	-	NULL		0.572	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP8	HGNC	protein_coding	OTTHUMT00000075088.4	G	NM_017701		45210624	+1	no_errors	ENST00000447333	ensembl	human	known	70_37	missense	SNP	1.000	A
ARHGAP9	64333	genome.wustl.edu	37	12	57871325	57871325	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:57871325G>T	ENST00000356411.2	-	4	811	c.673C>A	c.(673-675)Ccc>Acc	p.P225T	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.P225T|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.P296T|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.P304T|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P225T|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.P41T|ARHGAP9_ENST00000550454.1_5'UTR			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	225	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCAGAGTTGGGGTCCAGGTGC	0.642																																																	0													47.0	53.0	51.0					12																	57871325		2203	4300	6503	SO:0001583	missense	64333			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.673C>A	12.37:g.57871325G>T	ENSP00000348782:p.Pro225Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.P225T	ENST00000356411.2	37	c.673		12	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667524	0.67814	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139;ENST00000552604;ENST00000551452;ENST00000552066;ENST00000549602	T;T;T;T;T;T;T;T;T;D	0.83075	-1.09;-1.09;-1.09;-1.09;-1.09;0.92;0.92;0.92;0.92;-1.68	3.58	3.58	0.41010	WW/Rsp5/WWP (2);	0.362787	0.25500	N	0.030245	T	0.80518	0.4638	L	0.53249	1.67	0.30602	N	0.760374	P;P;B;P;B;B	0.52316	0.952;0.745;0.361;0.739;0.18;0.023	P;B;B;B;B;B	0.46585	0.521;0.33;0.107;0.407;0.056;0.019	T	0.79193	-0.1904	10	0.39692	T	0.17	.	10.9882	0.47534	0.0:0.0:1.0:0.0	.	225;304;225;225;225;41	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;.;RHG09_HUMAN;.;.;.	T	225;225;225;296;274;41;41;41;78;41;41	ENSP00000377380:P225T;ENSP00000348782:P225T;ENSP00000394307:P225T;ENSP00000377386:P296T;ENSP00000397950:P41T;ENSP00000449829:P41T;ENSP00000450256:P41T;ENSP00000446932:P78T;ENSP00000448424:P41T;ENSP00000450223:P41T	ENSP00000344852:P274T	P	-	1	0	ARHGAP9	56157592	1.000000	0.71417	0.978000	0.43139	0.997000	0.91878	4.259000	0.58828	2.292000	0.77174	0.655000	0.94253	CCC	ARHGAP9	-	superfamily_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP		0.642	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP9	HGNC	protein_coding		G	NM_032496		57871325	-1	no_errors	ENST00000356411	ensembl	human	known	70_37	missense	SNP	0.996	T
ARHGEF11	9826	genome.wustl.edu	37	1	156915901	156915901	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:156915901G>C	ENST00000361409.2	-	28	3370	c.2628C>G	c.(2626-2628)atC>atG	p.I876M	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.I292M|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.I916M|ARHGEF11_ENST00000487682.1_5'Flank	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	876	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCATCTCAGAGATGATGAGGT	0.612																																																	0													34.0	32.0	32.0					1																	156915901		2203	4300	6503	SO:0001583	missense	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2628C>G	1.37:g.156915901G>C	ENSP00000354644:p.Ile876Met	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.I916M	ENST00000361409.2	37	c.2748	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245122	0.59103	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.67698	-0.28;-0.28;-0.28	4.87	2.78	0.32641	Dbl homology (DH) domain (5);	0.343330	0.24859	N	0.035039	T	0.48003	0.1476	L	0.36672	1.1	0.28686	N	0.90484	P;P;B	0.37955	0.561;0.612;0.376	B;P;P	0.49683	0.278;0.619;0.484	T	0.41197	-0.9522	10	0.48119	T	0.1	-12.5559	6.2225	0.20689	0.181:0.1465:0.6725:0.0	.	292;876;916	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	M	916;876;292	ENSP00000357177:I916M;ENSP00000354644:I876M;ENSP00000313470:I292M	ENSP00000313470:I292M	I	-	3	3	ARHGEF11	155182525	0.640000	0.27243	1.000000	0.80357	0.988000	0.76386	0.541000	0.23207	1.121000	0.41925	0.650000	0.86243	ATC	ARHGEF11	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.612	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	G	NM_198236		156915901	-1	no_errors	ENST00000368194	ensembl	human	known	70_37	missense	SNP	1.000	C
ARHGEF12	23365	genome.wustl.edu	37	11	120328793	120328793	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:120328793G>A	ENST00000397843.2	+	25	2396	c.2230G>A	c.(2230-2232)Gac>Aac	p.D744N	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.D641N|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.D725N	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	744					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TCATAGGTTTGACAGTGTAGC	0.353			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													69.0	67.0	68.0					11																	120328793		1834	4089	5923	SO:0001583	missense	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.2230G>A	11.37:g.120328793G>A	ENSP00000380942:p.Asp744Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O15086|Q6P526	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D725N	ENST00000397843.2	37	c.2173	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	G	26.9	4.786416	0.90367	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.68181	-0.21;-0.31;-0.2	5.98	5.07	0.68467	.	0.000000	0.51477	D	0.000082	T	0.78842	0.4347	M	0.65975	2.015	0.48696	D	0.999694	D;D;D	0.76494	0.984;0.999;0.998	P;D;D	0.71414	0.835;0.973;0.94	T	0.77332	-0.2627	10	0.30854	T	0.27	-16.3457	15.3276	0.74179	0.067:0.0:0.933:0.0	.	641;725;744	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	N	744;725;641	ENSP00000380942:D744N;ENSP00000349056:D725N;ENSP00000432984:D641N	ENSP00000349056:D725N	D	+	1	0	ARHGEF12	119834003	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	7.015000	0.76387	1.541000	0.49316	0.591000	0.81541	GAC	ARHGEF12	-	NULL		0.353	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	G	NM_015313		120328793	+1	no_errors	ENST00000356641	ensembl	human	known	70_37	missense	SNP	1.000	A
ARHGEF16	27237	genome.wustl.edu	37	1	3392570	3392570	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:3392570G>C	ENST00000378378.4	+	10	1822	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.E185Q|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.E185Q|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.E177Q	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	473	Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCACAGGATGGAGCGCATGGA	0.642																																																	0													114.0	85.0	95.0					1																	3392570		2152	4240	6392	SO:0001583	missense	27237			D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1417G>C	1.37:g.3392570G>C	ENSP00000367629:p.Glu473Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86TF0|Q99434	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E473Q	ENST00000378378.4	37	c.1417	CCDS46.2	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800623	0.90538	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000418137;ENST00000413250	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	4.42	4.42	0.53409	Dbl homology (DH) domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	L	0.55743	1.74	0.80722	D	1	P;P	0.45672	0.864;0.691	P;B	0.46885	0.53;0.259	T	0.54951	-0.8216	10	0.66056	D	0.02	-29.3127	16.616	0.84916	0.0:0.0:1.0:0.0	.	177;473	B4DJM7;Q5VV41	.;ARHGG_HUMAN	Q	473;185;185;177;177	ENSP00000367629:E473Q;ENSP00000367624:E185Q;ENSP00000367622:E185Q;ENSP00000390853:E177Q;ENSP00000408887:E177Q	ENSP00000367622:E185Q	E	+	1	0	ARHGEF16	3382430	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.287000	0.78681	2.019000	0.59389	0.491000	0.48974	GAG	ARHGEF16	-	superfamily_DH-domain		0.642	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF16	HGNC	protein_coding	OTTHUMT00000001515.1	G	NM_014448		3392570	+1	no_errors	ENST00000378378	ensembl	human	known	70_37	missense	SNP	1.000	C
ARHGEF17	9828	genome.wustl.edu	37	11	73020642	73020642	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:73020642C>T	ENST00000263674.3	+	1	1309	c.959C>T	c.(958-960)tCa>tTa	p.S320L	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	320					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGCATGAACTCAGCAGGGGTT	0.617																																																	0													52.0	65.0	60.0					11																	73020642		2193	4287	6480	SO:0001583	missense	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.959C>T	11.37:g.73020642C>T	ENSP00000263674:p.Ser320Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain	p.S320L	ENST00000263674.3	37	c.959	CCDS8221.1	11	.	.	.	.	.	.	.	.	.	.	C	5.055	0.195742	0.09599	.	.	ENSG00000110237	ENST00000263674	T	0.59364	0.27	4.72	2.85	0.33270	.	0.520434	0.14530	N	0.313922	T	0.39572	0.1083	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26087	-1.0113	10	0.45353	T	0.12	-2.2661	4.5393	0.12049	0.1736:0.6395:0.0:0.1869	.	320	Q96PE2	ARHGH_HUMAN	L	320	ENSP00000263674:S320L	ENSP00000263674:S320L	S	+	2	0	ARHGEF17	72698290	0.317000	0.24589	0.233000	0.24025	0.145000	0.21501	0.735000	0.26115	0.434000	0.26340	0.313000	0.20887	TCA	ARHGEF17	-	NULL		0.617	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	HGNC	protein_coding	OTTHUMT00000397365.1	C	NM_014786		73020642	+1	no_errors	ENST00000263674	ensembl	human	known	70_37	missense	SNP	0.015	T
ARHGEF38	54848	genome.wustl.edu	37	4	106580237	106580237	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:106580237G>A	ENST00000420470.2	+	10	1404	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L	ARHGEF38_ENST00000508036.2_3'UTR	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	420	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						GACTCATCCTGACCCCCTTGT	0.502																																																	0																																										SO:0001819	synonymous_variant	54848			AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"""Rho guanine nucleotide exchange factors"""	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.1260G>A	4.37:g.106580237G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JIB4	Silent	SNP	pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.L420	ENST00000420470.2	37	c.1260	CCDS56338.1	4																																																																																			ARHGEF38	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom		0.502	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	ARHGEF38	HGNC	protein_coding	OTTHUMT00000336934.3	G	NM_017700		106580237	+1	no_errors	ENST00000420470	ensembl	human	putative	70_37	silent	SNP	0.976	A
ARHGEF38	54848	genome.wustl.edu	37	4	106598933	106598933	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:106598933C>G	ENST00000420470.2	+	14	2317	c.2173C>G	c.(2173-2175)Caa>Gaa	p.Q725E		NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	725	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						TCATGCTTTTCAAGCACGGAG	0.378																																																	0																																										SO:0001583	missense	54848			AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"""Rho guanine nucleotide exchange factors"""	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.2173C>G	4.37:g.106598933C>G	ENSP00000416125:p.Gln725Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JIB4	Missense_Mutation	SNP	pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.Q725E	ENST00000420470.2	37	c.2173	CCDS56338.1	4	.	.	.	.	.	.	.	.	.	.	C	7.088	0.571644	0.13623	.	.	ENSG00000236699	ENST00000420470	T	0.44083	0.93	5.2	4.36	0.52297	.	.	.	.	.	T	0.15739	0.0379	N	0.01284	-0.91	0.34092	D	0.660802	B	0.25272	0.122	B	0.25884	0.064	T	0.20207	-1.0282	9	0.18710	T	0.47	-9.0561	9.323	0.37975	0.0:0.7784:0.1448:0.0768	.	725	C9JIB4	.	E	725	ENSP00000416125:Q725E	ENSP00000416125:Q725E	Q	+	1	0	ARHGEF38	106818382	1.000000	0.71417	0.998000	0.56505	0.701000	0.40568	2.830000	0.48136	1.188000	0.43014	0.555000	0.69702	CAA	ARHGEF38	-	pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.378	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	ARHGEF38	HGNC	protein_coding	OTTHUMT00000336934.3	C	NM_017700		106598933	+1	no_errors	ENST00000420470	ensembl	human	putative	70_37	missense	SNP	1.000	G
ARHGEF9	23229	genome.wustl.edu	37	X	62885882	62885882	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:62885882C>G	ENST00000253401.6	-	7	1740	c.940G>C	c.(940-942)Gac>Cac	p.D314H	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.D312H|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.D261H|ARHGEF9_ENST00000433323.2_Intron|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.D212H|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.D293H|ARHGEF9_ENST00000495564.1_Intron	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	314					apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GAGCTCCTGTCTAGGATGTCC	0.597																																																	0													117.0	92.0	101.0					X																	62885882		2203	4300	6503	SO:0001583	missense	23229			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.940G>C	X.37:g.62885882C>G	ENSP00000253401:p.Asp314His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.D314H	ENST00000253401.6	37	c.940	CCDS35315.1	X	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948240	0.73787	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	5.08	5.08	0.68730	Pleckstrin homology-type (1);	0.053186	0.85682	D	0.000000	D	0.87297	0.6142	L	0.52573	1.65	0.80722	D	1	D;D;D	0.59767	0.986;0.957;0.957	P;B;P	0.49012	0.598;0.406;0.598	D	0.87505	0.2436	10	0.44086	T	0.13	.	16.1104	0.81259	0.0:1.0:0.0:0.0	.	261;312;314	B4DHC7;B1AMR4;O43307	.;.;ARHG9_HUMAN	H	314;312;261;212;293	ENSP00000253401:D314H;ENSP00000364012:D312H;ENSP00000399994:D261H;ENSP00000364004:D212H;ENSP00000364006:D293H	ENSP00000253401:D314H	D	-	1	0	ARHGEF9	62802607	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.296000	0.78790	2.103000	0.63969	0.600000	0.82982	GAC	ARHGEF9	-	NULL		0.597	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1	C			62885882	-1	no_errors	ENST00000253401	ensembl	human	known	70_37	missense	SNP	1.000	G
ARID1A	8289	genome.wustl.edu	37	1	27100297	27100297	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:27100297G>A	ENST00000324856.7	+	17	4380	c.4009G>A	c.(4009-4011)Gat>Aat	p.D1337N	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Missense_Mutation_p.D1337N|ARID1A_ENST00000374152.2_Missense_Mutation_p.D954N	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1337	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTATAGACATGATTCCTATGG	0.547			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													194.0	193.0	193.0					1																	27100297		2203	4300	6503	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4009G>A	1.37:g.27100297G>A	ENSP00000320485:p.Asp1337Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.D1337N	ENST00000324856.7	37	c.4009	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077615	0.55753	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.03152	4.18;4.22;4.03	5.57	5.57	0.84162	.	0.044705	0.85682	D	0.000000	T	0.14657	0.0354	L	0.46157	1.445	0.80722	D	1	P;D;D;D	0.71674	0.933;0.958;0.998;0.997	P;P;D;D	0.81914	0.599;0.613;0.995;0.989	T	0.00366	-1.1786	10	0.49607	T	0.09	-1.112	19.5333	0.95239	0.0:0.0:1.0:0.0	.	954;1337;1337;990	O14497-3;O14497;O14497-2;Q4LE49	.;ARI1A_HUMAN;.;.	N	1337;1337;954	ENSP00000320485:D1337N;ENSP00000387636:D1337N;ENSP00000363267:D954N	ENSP00000320485:D1337N	D	+	1	0	ARID1A	26972884	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.414000	0.97362	2.630000	0.89119	0.655000	0.94253	GAT	ARID1A	-	NULL		0.547	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	G	NM_139135		27100297	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	missense	SNP	1.000	A
ARID1B	57492	genome.wustl.edu	37	6	157502141	157502141	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:157502141G>A	ENST00000350026.5	+	11	3136	c.3135G>A	c.(3133-3135)acG>acA	p.T1045T	ARID1B_ENST00000275248.4_Silent_p.T1040T|ARID1B_ENST00000346085.5_Silent_p.T1058T|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000367148.1_Silent_p.T1098T	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1045					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGAAGATCACGAAGGTGTACG	0.572																																																	0													78.0	63.0	68.0					6																	157502141		2203	4296	6499	SO:0001819	synonymous_variant	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3135G>A	6.37:g.157502141G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.T1098	ENST00000350026.5	37	c.3294	CCDS5251.2	6																																																																																			ARID1B	-	superfamily_ARID/BRIGHT_DNA-bd		0.572	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	G	NM_020732		157502141	+1	no_errors	ENST00000367148	ensembl	human	known	70_37	silent	SNP	0.344	A
ARID3A	1820	genome.wustl.edu	37	19	964428	964428	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:964428C>G	ENST00000263620.3	+	5	1274	c.947C>G	c.(946-948)aCc>aGc	p.T316S		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	316	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCTGCGGACCCAGTGAGTG	0.657																																					Pancreas(29;54 1022 32760 50921)												0													105.0	73.0	84.0					19																	964428		2200	4300	6500	SO:0001583	missense	1820			U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.947C>G	19.37:g.964428C>G	ENSP00000263620:p.Thr316Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.T316S	ENST00000263620.3	37	c.947	CCDS12050.1	19	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462729	0.63513	.	.	ENSG00000116017	ENST00000263620	T	0.61510	0.1	4.4	4.4	0.53042	ARID/BRIGHT DNA-binding domain (5);	0.099623	0.64402	D	0.000002	T	0.66519	0.2797	L	0.45051	1.395	0.80722	D	1	D	0.57571	0.98	D	0.62955	0.909	T	0.70324	-0.4903	10	0.72032	D	0.01	-8.1116	14.4409	0.67318	0.0:1.0:0.0:0.0	.	316	Q99856	ARI3A_HUMAN	S	316	ENSP00000263620:T316S	ENSP00000263620:T316S	T	+	2	0	ARID3A	915428	1.000000	0.71417	0.999000	0.59377	0.804000	0.45430	5.708000	0.68377	2.003000	0.58678	0.561000	0.74099	ACC	ARID3A	-	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd		0.657	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3A	HGNC	protein_coding	OTTHUMT00000458219.1	C	NM_005224		964428	+1	no_errors	ENST00000263620	ensembl	human	known	70_37	missense	SNP	1.000	G
ARID3B	10620	genome.wustl.edu	37	15	74888066	74888066	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:74888066C>T	ENST00000346246.5	+	9	1865	c.1634C>T	c.(1633-1635)tCa>tTa	p.S545L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	546	Ser-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						AGTCCTACCTCATCCCGGGGC	0.642																																																	0													40.0	43.0	42.0					15																	74888066		2197	4292	6489	SO:0001583	missense	10620				CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1634C>T	15.37:g.74888066C>T	ENSP00000343126:p.Ser545Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S545L	ENST00000346246.5	37	c.1634	CCDS10264.1	15	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532764	0.85812	.	.	ENSG00000179361	ENST00000346246	T	0.57752	0.38	4.4	4.4	0.53042	.	0.096998	0.45867	D	0.000326	T	0.59074	0.2167	N	0.19112	0.55	0.48135	D	0.99959	D;D	0.76494	0.998;0.999	D;D	0.80764	0.987;0.994	T	0.63180	-0.6695	10	0.48119	T	0.1	-11.754	17.5479	0.87867	0.0:1.0:0.0:0.0	.	546;545	Q8IVW6;Q8IVW6-4	ARI3B_HUMAN;.	L	545	ENSP00000343126:S545L	ENSP00000343126:S545L	S	+	2	0	ARID3B	72675119	1.000000	0.71417	0.991000	0.47740	0.964000	0.63967	5.022000	0.64078	2.446000	0.82766	0.462000	0.41574	TCA	ARID3B	-	NULL		0.642	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3B	HGNC	protein_coding	OTTHUMT00000280688.2	C	NM_006465		74888066	+1	no_errors	ENST00000346246	ensembl	human	known	70_37	missense	SNP	0.995	T
ARID3B	10620	genome.wustl.edu	37	15	74890150	74890150	+	3'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:74890150G>A	ENST00000563567.1	+	0	352				ARID3B_ENST00000346246.5_3'UTR			Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)							nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCGTTGGAGTGAACCCTCACT	0.627																																																	0																																										SO:0001624	3_prime_UTR_variant	10620				CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000563567.1:c.*349G>A	15.37:g.74890150G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95443|Q59HC9|Q6P9C9	RNA	SNP	-	NULL	ENST00000563567.1	37	NULL		15																																																																																			ARID3B	-	-		0.627	ARID3B-006	PUTATIVE	basic|exp_conf	processed_transcript	ARID3B	HGNC	protein_coding	OTTHUMT00000420641.1	G	NM_006465		74890150	+1	no_errors	ENST00000563567	ensembl	human	putative	70_37	rna	SNP	0.000	A
ARIH2OS	646450	genome.wustl.edu	37	3	48955903	48955903	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:48955903G>C	ENST00000408959.2	-	1	915	c.680C>G	c.(679-681)tCg>tGg	p.S227W	ARIH2_ENST00000449376.1_5'Flank|ARIH2_ENST00000356401.4_5'Flank	NM_001123040.1	NP_001116512.1	Q8N7S6	ARI2O_HUMAN	ariadne homolog 2 opposite strand	227						integral component of membrane (GO:0016021)											GCCACCCTGCGACCGCCTCGG	0.632																																																	0													50.0	53.0	52.0					3																	48955903		1568	3582	5150	SO:0001583	missense	646450			DA461567	CCDS43088.1	3p21.31	2012-10-08	2012-10-08	2012-10-08	ENSG00000221883	ENSG00000221883			34425	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 71"""	C3orf71			Standard	NM_001123040		Approved		uc010hkk.1	Q8N7S6	OTTHUMG00000156672	ENST00000408959.2:c.680C>G	3.37:g.48955903G>C	ENSP00000386193:p.Ser227Trp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S227W	ENST00000408959.2	37	c.680	CCDS43088.1	3	.	.	.	.	.	.	.	.	.	.	G	6.762	0.509515	0.12883	.	.	ENSG00000221883	ENST00000408959	.	.	.	2.61	-1.63	0.08345	.	.	.	.	.	T	0.24431	0.0592	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.63283	0.913	T	0.12889	-1.0530	8	0.87932	D	0	.	2.6585	0.05019	0.4378:0.0:0.3457:0.2165	.	227	Q8N7S6	CC071_HUMAN	W	227	.	ENSP00000386193:S227W	S	-	2	0	C3orf71	48930907	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.103000	0.15292	-0.424000	0.07382	-0.258000	0.10820	TCG	ARIH2OS	-	NULL		0.632	ARIH2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARIH2OS	HGNC	protein_coding	OTTHUMT00000345247.1	G	NM_001123040		48955903	-1	no_errors	ENST00000408959	ensembl	human	known	70_37	missense	SNP	0.000	C
ARIH2OS	646450	genome.wustl.edu	37	3	48956234	48956234	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:48956234G>C	ENST00000408959.2	-	1	584	c.349C>G	c.(349-351)Cga>Gga	p.R117G	ARIH2_ENST00000449376.1_5'Flank|ARIH2_ENST00000356401.4_5'Flank	NM_001123040.1	NP_001116512.1	Q8N7S6	ARI2O_HUMAN	ariadne homolog 2 opposite strand	117						integral component of membrane (GO:0016021)											ACCGTGGGTCGACCCCGATCC	0.672																																																	0													10.0	13.0	12.0					3																	48956234		1532	3500	5032	SO:0001583	missense	646450			DA461567	CCDS43088.1	3p21.31	2012-10-08	2012-10-08	2012-10-08	ENSG00000221883	ENSG00000221883			34425	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 71"""	C3orf71			Standard	NM_001123040		Approved		uc010hkk.1	Q8N7S6	OTTHUMG00000156672	ENST00000408959.2:c.349C>G	3.37:g.48956234G>C	ENSP00000386193:p.Arg117Gly	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R117G	ENST00000408959.2	37	c.349	CCDS43088.1	3	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645086	0.29246	.	.	ENSG00000221883	ENST00000408959	.	.	.	3.7	2.83	0.33086	.	.	.	.	.	T	0.35537	0.0935	N	0.08118	0	0.21697	N	0.999585	D	0.89917	1.0	D	0.77557	0.99	T	0.11131	-1.0600	8	0.87932	D	0	.	7.246	0.26121	0.1189:0.0:0.8811:0.0	.	117	Q8N7S6	CC071_HUMAN	G	117	.	ENSP00000386193:R117G	R	-	1	2	C3orf71	48931238	0.769000	0.28531	0.674000	0.29902	0.313000	0.28021	0.631000	0.24568	1.153000	0.42468	0.655000	0.94253	CGA	ARIH2OS	-	NULL		0.672	ARIH2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARIH2OS	HGNC	protein_coding	OTTHUMT00000345247.1	G	NM_001123040		48956234	-1	no_errors	ENST00000408959	ensembl	human	known	70_37	missense	SNP	0.778	C
ARL15	54622	genome.wustl.edu	37	5	53182187	53182187	+	3'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:53182187C>G	ENST00000504924.1	-	0	912				ARL15_ENST00000502271.1_3'UTR|ARL15_ENST00000510591.2_5'Flank	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15						small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				AATTCTCTCTCAGTAGTGTGT	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	54622			BC026093	CCDS54850.1	5p15.2	2014-05-09	2005-11-03	2005-11-03		ENSG00000185305		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25945	protein-coding gene	gene with protein product			"""ADP-ribosylation factor related protein 2"""	ARFRP2		12477932	Standard	NM_019087		Approved	FLJ20051	uc003jpg.1	Q9NXU5		ENST00000504924.1:c.*204G>C	5.37:g.53182187C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IAD0	RNA	SNP	-	NULL	ENST00000504924.1	37	NULL	CCDS54850.1	5																																																																																			ARL15	-	-		0.373	ARL15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL15	HGNC	protein_coding	OTTHUMT00000368432.2	C	NM_019087		53182187	-1	no_errors	ENST00000502271	ensembl	human	known	70_37	rna	SNP	1.000	G
ARMC5	79798	genome.wustl.edu	37	16	31477187	31477187	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:31477187G>C	ENST00000563544.1	+	6	2427	c.1881G>C	c.(1879-1881)caG>caC	p.Q627H	ARMC5_ENST00000408912.3_Missense_Mutation_p.Q722H|ARMC5_ENST00000538189.1_Missense_Mutation_p.Q659H|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000412665.2_Missense_Mutation_p.Q271H|ARMC5_ENST00000268314.4_Missense_Mutation_p.Q627H			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	627										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGCTACTGCAGAACCTGACGG	0.642																																																	0													30.0	37.0	35.0					16																	31477187		2144	4249	6393	SO:0001583	missense	79798			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1881G>C	16.37:g.31477187G>C	ENSP00000456877:p.Gln627His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like	p.Q722H	ENST00000563544.1	37	c.2166	CCDS45472.1	16	.	.	.	.	.	.	.	.	.	.	G	13.31	2.200068	0.38905	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000412665	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.56	3.61	0.41365	Armadillo-type fold (1);	0.288587	0.33834	N	0.004516	T	0.33206	0.0855	L	0.47716	1.5	0.35395	D	0.791061	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	P;P;D;P	0.65443	0.904;0.904;0.935;0.904	T	0.40831	-0.9542	10	0.72032	D	0.01	-35.7892	7.9037	0.29750	0.2508:0.0:0.7492:0.0	.	659;659;722;627	B4DH27;F5H156;B4DIU9;Q96C12	.;.;.;ARMC5_HUMAN	H	722;659;627;271	ENSP00000386125:Q722H;ENSP00000443995:Q659H;ENSP00000268314:Q627H;ENSP00000400183:Q271H	ENSP00000268314:Q627H	Q	+	3	2	ARMC5	31384688	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	1.156000	0.31712	0.723000	0.32274	-0.150000	0.13652	CAG	ARMC5	-	superfamily_ARM-type_fold		0.642	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC5	HGNC	protein_coding	OTTHUMT00000432847.1	G	NM_024742		31477187	+1	no_errors	ENST00000408912	ensembl	human	known	70_37	missense	SNP	1.000	C
ARMCX3	51566	genome.wustl.edu	37	X	100880767	100880767	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:100880767C>G	ENST00000341189.4	+	5	1664	c.798C>G	c.(796-798)ctC>ctG	p.L266L	RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3_ENST00000537169.1_Silent_p.L266L|ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000471229.2_Silent_p.L266L	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	266					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						TTCTGAAACTCCTTTTGAATT	0.408																																																	0													62.0	57.0	59.0					X																	100880767		2203	4300	6503	SO:0001819	synonymous_variant	51566			AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.798C>G	X.37:g.100880767C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53HC6|Q7LCF5|Q9NPE4	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.L266	ENST00000341189.4	37	c.798	CCDS14489.1	X																																																																																			ARMCX3	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold		0.408	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX3	HGNC	protein_coding	OTTHUMT00000057568.2	C	NM_016607		100880767	+1	no_errors	ENST00000341189	ensembl	human	known	70_37	silent	SNP	1.000	G
ARMCX4	100131755	genome.wustl.edu	37	X	100744929	100744929	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:100744929G>C	ENST00000423738.3	+	2	1555	c.1353G>C	c.(1351-1353)aaG>aaC	p.K451N		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	291						integral component of membrane (GO:0016021)				lung(1)	1						CCAGGGATAAGAGCAGAGGCA	0.527																																																	0																																										SO:0001583	missense	100131755			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.1353G>C	X.37:g.100744929G>C	ENSP00000404304:p.Lys451Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K928|B3KXA4|Q5H9K8|Q8N8D6	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.K451N	ENST00000423738.3	37	c.1353	CCDS59170.1	X	.	.	.	.	.	.	.	.	.	.	.	7.877	0.729478	0.15507	.	.	ENSG00000196440	ENST00000423738	T	0.31247	1.5	4.63	2.82	0.32997	.	.	.	.	.	T	0.24122	0.0584	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20438	-1.0275	5	.	.	.	.	6.3881	0.21572	0.3416:0.0:0.6584:0.0	.	.	.	.	N	555	ENSP00000404304:K555N	.	K	+	3	2	ARMCX4	100631585	0.218000	0.23608	0.020000	0.16555	0.919000	0.55068	2.150000	0.42254	0.452000	0.26830	0.506000	0.49869	AAG	ARMCX4	-	NULL		0.527	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	G	NM_001256155		100744929	+1	no_errors	ENST00000423738	ensembl	human	putative	70_37	missense	SNP	0.077	C
ARMCX3	51566	genome.wustl.edu	37	X	100880829	100880829	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:100880829C>T	ENST00000341189.4	+	5	1726	c.860C>T	c.(859-861)tCt>tTt	p.S287F	RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3_ENST00000537169.1_Missense_Mutation_p.S287F|ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000471229.2_Missense_Mutation_p.S287F	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	287					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						CAAGTACCATCTTCACTGGGC	0.393																																																	0													54.0	51.0	52.0					X																	100880829		2202	4298	6500	SO:0001583	missense	51566			AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.860C>T	X.37:g.100880829C>T	ENSP00000340672:p.Ser287Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53HC6|Q7LCF5|Q9NPE4	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.S287F	ENST00000341189.4	37	c.860	CCDS14489.1	X	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860799	0.51482	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	T;T	0.52983	0.64;0.64	4.94	4.94	0.65067	Armadillo-like helical (1);Armadillo-type fold (1);	0.242407	0.42964	D	0.000626	T	0.59810	0.2221	L	0.47716	1.5	0.39619	D	0.969998	D	0.71674	0.998	D	0.76575	0.988	T	0.59456	-0.7451	9	.	.	.	-13.6831	13.0397	0.58891	0.0:1.0:0.0:0.0	.	287	Q9UH62	ARMX3_HUMAN	F	287	ENSP00000340672:S287F;ENSP00000439032:S287F	.	S	+	2	0	ARMCX3	100767485	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.791000	0.38744	2.381000	0.81170	0.600000	0.82982	TCT	ARMCX3	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold		0.393	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX3	HGNC	protein_coding	OTTHUMT00000057568.2	C	NM_016607		100880829	+1	no_errors	ENST00000341189	ensembl	human	known	70_37	missense	SNP	1.000	T
ARRB2	409	genome.wustl.edu	37	17	4622635	4622635	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:4622635C>G	ENST00000269260.2	+	11	1070	c.837C>G	c.(835-837)ctC>ctG	p.L279L	ARRB2_ENST00000572457.1_Silent_p.L87L|ARRB2_ENST00000574954.1_Silent_p.L87L|ARRB2_ENST00000571206.1_Silent_p.L87L|ARRB2_ENST00000346341.2_Silent_p.L264L|ARRB2_ENST00000575877.1_Intron|ARRB2_ENST00000381488.6_Silent_p.L264L|ARRB2_ENST00000412477.3_Silent_p.L300L	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	279	Interaction with TRAF6.				adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCCCACTGCTCAGCGACAACC	0.607																																																	0													96.0	87.0	90.0					17																	4622635		2203	4300	6503	SO:0001819	synonymous_variant	409				CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.837C>G	17.37:g.4622635C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.L279	ENST00000269260.2	37	c.837	CCDS11050.1	17																																																																																			ARRB2	-	pfam_Arrestin_C-like,superfamily_Ig_E-set		0.607	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRB2	HGNC	protein_coding	OTTHUMT00000439552.1	C	NM_004313		4622635	+1	no_errors	ENST00000269260	ensembl	human	known	70_37	silent	SNP	0.984	G
ART4	420	genome.wustl.edu	37	12	14993997	14993997	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:14993997G>C	ENST00000228936.4	-	2	616	c.235C>G	c.(235-237)Caa>Gaa	p.Q79E	C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	79					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TAATCCCCTTGAGTTAGTTTC	0.398																																																	0													103.0	103.0	103.0					12																	14993997		2203	4300	6503	SO:0001583	missense	420			X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.235C>G	12.37:g.14993997G>C	ENSP00000228936:p.Gln79Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	pfam_ART,prints_ART	p.Q79E	ENST00000228936.4	37	c.235	CCDS8668.1	12	.	.	.	.	.	.	.	.	.	.	G	5.564	0.288871	0.10513	.	.	ENSG00000111339	ENST00000228936;ENST00000420600	T;T	0.07567	3.18;3.18	4.35	3.43	0.39272	.	0.443563	0.26140	N	0.026110	T	0.08268	0.0206	L	0.39245	1.2	0.27491	N	0.952289	B;B	0.31026	0.304;0.304	B;B	0.29353	0.101;0.101	T	0.14254	-1.0479	10	0.49607	T	0.09	-5.2184	12.3886	0.55347	0.0:0.1713:0.8287:0.0	.	79;79	A8K6J7;Q93070	.;NAR4_HUMAN	E	79;62	ENSP00000228936:Q79E;ENSP00000405689:Q62E	ENSP00000228936:Q79E	Q	-	1	0	ART4	14885264	0.116000	0.22171	0.917000	0.36280	0.211000	0.24417	1.673000	0.37534	1.373000	0.46208	0.563000	0.77884	CAA	ART4	-	pfam_ART		0.398	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART4	HGNC	protein_coding	OTTHUMT00000400859.1	G	NM_021071		14993997	-1	no_errors	ENST00000228936	ensembl	human	known	70_37	missense	SNP	0.977	C
ASB16	92591	genome.wustl.edu	37	17	42255079	42255079	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:42255079G>A	ENST00000293414.1	+	4	1249	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000592897.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	389					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGTGCTCCCAGAGCTGTGGAA	0.607																																																	0													128.0	100.0	110.0					17																	42255079		2203	4300	6503	SO:0001583	missense	92591			AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.1165G>A	17.37:g.42255079G>A	ENSP00000293414:p.Glu389Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBC0|Q8WXK0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.E389K	ENST00000293414.1	37	c.1165	CCDS11478.1	17	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781050	0.70222	.	.	ENSG00000161664	ENST00000293414	T	0.65916	-0.18	5.2	5.2	0.72013	.	0.182237	0.47093	D	0.000260	T	0.75027	0.3794	L	0.55213	1.73	0.45427	D	0.998402	D	0.76494	0.999	D	0.80764	0.994	T	0.76310	-0.3006	10	0.66056	D	0.02	-22.147	15.7572	0.78043	0.0:0.0:1.0:0.0	.	389	Q96NS5	ASB16_HUMAN	K	389	ENSP00000293414:E389K	ENSP00000293414:E389K	E	+	1	0	ASB16	39610605	1.000000	0.71417	0.992000	0.48379	0.795000	0.44927	5.155000	0.64900	2.709000	0.92574	0.491000	0.48974	GAG	ASB16	-	NULL		0.607	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB16	HGNC	protein_coding	OTTHUMT00000457703.1	G			42255079	+1	no_errors	ENST00000293414	ensembl	human	known	70_37	missense	SNP	0.994	A
ASB2	51676	genome.wustl.edu	37	14	94405904	94405904	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:94405904C>T	ENST00000315988.4	-	6	1511	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	ASB2_ENST00000556337.1_5'UTR|RP11-131H24.4_ENST00000557646.1_5'UTR|ASB2_ENST00000555019.1_Silent_p.L389L	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	341					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		AGCGCGCGCTCAGCAGCGCCT	0.711																																																	0													8.0	7.0	7.0					14																	94405904		1935	3922	5857	SO:0001819	synonymous_variant	51676			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1023G>A	14.37:g.94405904C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.L341	ENST00000315988.4	37	c.1023	CCDS9915.1	14																																																																																			ASB2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.711	ASB2-001	KNOWN	basic|CCDS	protein_coding	ASB2	HGNC	protein_coding	OTTHUMT00000412845.1	C			94405904	-1	no_errors	ENST00000315988	ensembl	human	known	70_37	silent	SNP	1.000	T
ASIC4	55515	genome.wustl.edu	37	2	220397701	220397701	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:220397701C>G	ENST00000347842.3	+	4	1413				ASIC4_ENST00000358078.4_Intron|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4						ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										CCATCAGCCTCTTCATGTCTC	0.537																																																	0													173.0	128.0	143.0					2																	220397701		2203	4300	6503	SO:0001627	intron_variant	55515			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1399+502C>G	2.37:g.220397701C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	RNA	SNP	-	NULL	ENST00000347842.3	37	NULL	CCDS2442.1	2																																																																																			ASIC4	-	-		0.537	ASIC4-001	KNOWN	basic|CCDS	protein_coding	ASIC4	HGNC	protein_coding	OTTHUMT00000130263.1	C	NM_018674		220397701	+1	no_errors	ENST00000473709	ensembl	human	known	70_37	rna	SNP	0.000	G
ASL	435	genome.wustl.edu	37	7	65551611	65551611	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:65551611G>C	ENST00000304874.9	+	7	588	c.486G>C	c.(484-486)caG>caC	p.Q162H	AC068533.7_ENST00000450043.1_5'Flank|ASL_ENST00000380839.4_Missense_Mutation_p.Q162H|ASL_ENST00000395331.3_Missense_Mutation_p.Q162H|ASL_ENST00000395332.3_Missense_Mutation_p.Q162H	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	162					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CCCATTTGCAGAGGGCCCAGC	0.642																																																	0													54.0	49.0	51.0					7																	65551611		2203	4300	6503	SO:0001583	missense	435				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.486G>C	7.37:g.65551611G>C	ENSP00000307188:p.Gln162His	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase	p.Q162H	ENST00000304874.9	37	c.486	CCDS5531.1	7	.	.	.	.	.	.	.	.	.	.	g	18.72	3.684643	0.68157	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000362000;ENST00000395331	D;D;D;D;D	0.99714	-6.5;-6.5;-6.5;-6.5;-6.5	5.8	4.93	0.64822	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.119284	0.64402	D	0.000017	D	0.99846	0.9929	H	0.98833	4.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.993;0.995;0.998;0.998	D	0.96705	0.9521	10	0.87932	D	0	.	12.4276	0.55556	0.0774:0.0:0.9226:0.0	.	162;162;162;162	B4DU69;E9PE48;E7EMI0;P04424	.;.;.;ARLY_HUMAN	H	162;162;162;97;162	ENSP00000307188:Q162H;ENSP00000370219:Q162H;ENSP00000378741:Q162H;ENSP00000354710:Q97H;ENSP00000378740:Q162H	ENSP00000307188:Q162H	Q	+	3	2	ASL	65189046	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	1.193000	0.32162	1.467000	0.48044	0.655000	0.94253	CAG	ASL	-	pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase		0.642	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASL	HGNC	protein_coding	OTTHUMT00000251695.2	G	NM_000048		65551611	+1	no_errors	ENST00000304874	ensembl	human	known	70_37	missense	SNP	1.000	C
ASPH	444	genome.wustl.edu	37	8	62465592	62465592	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:62465592C>G	ENST00000379454.4	-	20	1811	c.1624G>C	c.(1624-1626)Gag>Cag	p.E542Q	ASPH_ENST00000541428.1_Missense_Mutation_p.E513Q	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	542					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CCCATTACCTCTTTGTTCCCA	0.403																																																	0													217.0	237.0	230.0					8																	62465592		2203	4300	6503	SO:0001583	missense	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1624G>C	8.37:g.62465592C>G	ENSP00000368767:p.Glu542Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E542Q	ENST00000379454.4	37	c.1624	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470601	0.84533	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.37058	1.23;1.22	5.73	5.73	0.89815	Tetratricopeptide-like helical (1);	0.139794	0.56097	D	0.000035	T	0.50222	0.1603	L	0.28556	0.865	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.67231	0.95;0.893	T	0.49457	-0.8938	10	0.62326	D	0.03	-32.1332	19.8966	0.96963	0.0:1.0:0.0:0.0	.	513;542	F5H667;Q12797	.;ASPH_HUMAN	Q	513;542	ENSP00000437864:E513Q;ENSP00000368767:E542Q	ENSP00000368767:E542Q	E	-	1	0	ASPH	62628146	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.244000	0.65400	2.700000	0.92200	0.655000	0.94253	GAG	ASPH	-	NULL		0.403	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	C	NM_004318		62465592	-1	no_errors	ENST00000379454	ensembl	human	known	70_37	missense	SNP	1.000	G
ATAD3C	219293	genome.wustl.edu	37	1	1398013	1398013	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:1398013G>A	ENST00000378785.2	+	11	2009	c.1014G>A	c.(1012-1014)agG>agA	p.R338R		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	338							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACTACGGGAGGAAGTGCTTAG	0.642																																																	0													56.0	54.0	55.0					1																	1398013		2201	4289	6490	SO:0001819	synonymous_variant	219293			AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.1014G>A	1.37:g.1398013G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N1Z5	Silent	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.R338	ENST00000378785.2	37	c.1014	CCDS44039.1	1																																																																																			ATAD3C	-	NULL		0.642	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3C	HGNC	protein_coding	OTTHUMT00000001279.3	G	NM_001039211		1398013	+1	no_errors	ENST00000378785	ensembl	human	known	70_37	silent	SNP	0.999	A
ATE1	11101	genome.wustl.edu	37	10	123549562	123549562	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:123549562C>G	ENST00000224652.6	-	11	1464				ATE1_ENST00000540606.1_Intron|ATE1_ENST00000369043.3_Intron|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000369040.3_Intron	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1						protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CACACACACTCATGCACAGCA	0.433																																																	0																																										SO:0001627	intron_variant	11101			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1378+121G>C	10.37:g.123549562C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O95261|Q5SQQ3|Q8WW04	RNA	SNP	-	NULL	ENST00000224652.6	37	NULL	CCDS31300.1	10																																																																																			ATE1	-	-		0.433	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATE1	HGNC	protein_coding		C	NM_001001976		123549562	-1	no_errors	ENST00000470613	ensembl	human	known	70_37	rna	SNP	0.001	G
ATG2A	23130	genome.wustl.edu	37	11	64676516	64676516	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:64676516C>T	ENST00000377264.3	-	16	2423	c.2311G>A	c.(2311-2313)Gaa>Aaa	p.E771K	ATG2A_ENST00000421419.2_Missense_Mutation_p.E771K	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	771					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGCTCAGGTTCCCGCAGCTCA	0.637																																																	0													76.0	49.0	58.0					11																	64676516		2199	4297	6496	SO:0001583	missense	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.2311G>A	11.37:g.64676516C>T	ENSP00000366475:p.Glu771Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.E771K	ENST00000377264.3	37	c.2311	CCDS31602.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.808|7.808	0.715161|0.715161	0.15306|0.15306	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377264|ENST00000418259	T;T|.	0.47869|.	0.83;0.83|.	4.77|4.77	2.83|2.83	0.33086|0.33086	.|.	0.189094|.	0.45126|.	D|.	0.000395|.	T|T	0.29158|0.29158	0.0725|0.0725	N|N	0.14661|0.14661	0.345|0.345	0.25631|0.25631	N|N	0.986302|0.986302	B|.	0.20261|.	0.043|.	B|.	0.22601|.	0.04|.	T|T	0.19160|0.19160	-1.0314|-1.0314	10|5	0.02654|.	T|.	1|.	.|.	12.8378|12.8378	0.57784|0.57784	0.0:0.49:0.51:0.0|0.0:0.49:0.51:0.0	.|.	771|.	Q2TAZ0|.	ATG2A_HUMAN|.	K|E	771|572	ENSP00000410522:E771K;ENSP00000366475:E771K|.	ENSP00000366475:E771K|.	E|G	-|-	1|2	0|0	ATG2A|ATG2A	64433092|64433092	0.454000|0.454000	0.25728|0.25728	0.033000|0.033000	0.17914|0.17914	0.529000|0.529000	0.34654|0.34654	2.071000|2.071000	0.41500|0.41500	0.687000|0.687000	0.31509|0.31509	-0.175000|-0.175000	0.13238|0.13238	GAA|GGA	ATG2A	-	NULL		0.637	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	C	NM_015104		64676516	-1	no_errors	ENST00000421419	ensembl	human	known	70_37	missense	SNP	0.653	T
ATG2A	23130	genome.wustl.edu	37	11	64677261	64677261	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:64677261C>T	ENST00000377264.3	-	14	2111	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	ATG2A_ENST00000421419.2_Missense_Mutation_p.E667K	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	667					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CGAAGCTGCTCAGCCCGCACG	0.701																																																	0													26.0	30.0	29.0					11																	64677261		2201	4295	6496	SO:0001583	missense	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1999G>A	11.37:g.64677261C>T	ENSP00000366475:p.Glu667Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.E667K	ENST00000377264.3	37	c.1999	CCDS31602.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.184751	0.94885	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.13538	2.58;2.58	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	L	0.55481	1.735	0.48288	D	0.99962	D	0.60575	0.988	P	0.52343	0.696	T	0.00692	-1.1607	10	0.72032	D	0.01	.	12.4406	0.55623	0.0:1.0:0.0:0.0	.	667	Q2TAZ0	ATG2A_HUMAN	K	667	ENSP00000410522:E667K;ENSP00000366475:E667K	ENSP00000366475:E667K	E	-	1	0	ATG2A	64433837	1.000000	0.71417	0.986000	0.45419	0.919000	0.55068	6.069000	0.71209	2.386000	0.81285	0.561000	0.74099	GAG	ATG2A	-	NULL		0.701	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	C	NM_015104		64677261	-1	no_errors	ENST00000421419	ensembl	human	known	70_37	missense	SNP	1.000	T
ATG2A	23130	genome.wustl.edu	37	11	64679412	64679412	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:64679412G>T	ENST00000377264.3	-	9	1242	c.1130C>A	c.(1129-1131)tCa>tAa	p.S377*	ATG2A_ENST00000421419.2_Nonsense_Mutation_p.S377*	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	377					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGAGAGGGCTGAGGCCACACT	0.652																																																	0													64.0	56.0	59.0					11																	64679412		2201	4297	6498	SO:0001587	stop_gained	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1130C>A	11.37:g.64679412G>T	ENSP00000366475:p.Ser377*	Somatic		WXS	Illumina HiSeq	Phase_IV	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Nonsense_Mutation	SNP	pfam_Autophagy-rel_C	p.S377*	ENST00000377264.3	37	c.1130	CCDS31602.1	11	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143127	0.77888	.	.	ENSG00000110046	ENST00000421419;ENST00000377264;ENST00000227459	.	.	.	4.42	4.42	0.53409	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9106	0.70755	0.0:0.0:1.0:0.0	.	.	.	.	X	377	.	ENSP00000227459:S377X	S	-	2	0	ATG2A	64435988	1.000000	0.71417	0.284000	0.24805	0.694000	0.40290	6.954000	0.76001	2.477000	0.83638	0.561000	0.74099	TCA	ATG2A	-	NULL		0.652	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	G	NM_015104		64679412	-1	no_errors	ENST00000421419	ensembl	human	known	70_37	nonsense	SNP	0.963	T
ATM	472	genome.wustl.edu	37	11	108129735	108129735	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:108129735C>T	ENST00000452508.2	+	17	2588	c.2399C>T	c.(2398-2400)tCt>tTt	p.S800F	ATM_ENST00000278616.4_Missense_Mutation_p.S800F			Q13315	ATM_HUMAN	ATM serine/threonine kinase	800					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAGATTGCATCTGGCTTTTTC	0.318			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													129.0	123.0	125.0					11																	108129735		2200	4298	6498	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2399C>T	11.37:g.108129735C>T	ENSP00000388058:p.Ser800Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S800F	ENST00000452508.2	37	c.2399	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704176	0.68615	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.75154	-0.91;-0.91;-0.91	5.8	5.8	0.92144	Armadillo-type fold (1);	0.172575	0.53938	D	0.000058	D	0.83663	0.5303	M	0.67953	2.075	0.42414	D	0.99261	D	0.63880	0.993	P	0.57548	0.823	D	0.84739	0.0750	10	0.72032	D	0.01	.	20.0706	0.97721	0.0:1.0:0.0:0.0	.	800	Q13315	ATM_HUMAN	F	800	ENSP00000435747:S800F;ENSP00000278616:S800F;ENSP00000388058:S800F	ENSP00000278616:S800F	S	+	2	0	ATM	107634945	1.000000	0.71417	0.995000	0.50966	0.260000	0.26232	5.335000	0.65929	2.744000	0.94065	0.655000	0.94253	TCT	ATM	-	superfamily_ARM-type_fold		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	C	NM_000051		108129735	+1	no_errors	ENST00000278616	ensembl	human	known	70_37	missense	SNP	1.000	T
ATP13A2	23400	genome.wustl.edu	37	1	17312722	17312722	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:17312722C>G	ENST00000326735.8	-	29	3570	c.3537G>C	c.(3535-3537)ctG>ctC	p.L1179L	ATP13A2_ENST00000452699.1_Silent_p.L1174L|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.E1079Q			Q9NQ11	AT132_HUMAN	ATPase type 13A2	1179					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGCACTACCTCAGGGGGCCGG	0.706																																																	0													21.0	30.0	27.0					1																	17312722		2172	4283	6455	SO:0001819	synonymous_variant	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.3537G>C	1.37:g.17312722C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.E1079Q	ENST00000326735.8	37	c.3235	CCDS175.1	1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395998	0.25205	.	.	ENSG00000159363	ENST00000341676;ENST00000502418	D;D	0.97016	-3.32;-4.21	4.38	3.46	0.39613	.	.	.	.	.	D	0.91005	0.7171	.	.	.	0.54753	D	0.999988	B	0.19331	0.035	B	0.20184	0.028	D	0.85460	0.1166	8	0.22109	T	0.4	1.6192	7.1622	0.25671	0.1736:0.7304:0.0:0.096	.	1079	Q5JXY1	.	Q	1079;319	ENSP00000341115:E1079Q;ENSP00000423065:E319Q	ENSP00000341115:E1079Q	E	-	1	0	ATP13A2	17185309	0.165000	0.22948	0.992000	0.48379	0.116000	0.19942	0.617000	0.24359	2.426000	0.82243	0.543000	0.68304	GAG	ATP13A2	-	NULL		0.706	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	C	NM_022089		17312722	-1	no_errors	ENST00000341676	ensembl	human	known	70_37	missense	SNP	0.830	G
ATP13A2	23400	genome.wustl.edu	37	1	17322357	17322357	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:17322357G>C	ENST00000326735.8	-	15	1576				ATP13A2_ENST00000452699.1_Intron|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000341676.5_Intron			Q9NQ11	AT132_HUMAN	ATPase type 13A2						cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		tccatccctagacaggacctg	0.597																																																	0																																										SO:0001627	intron_variant	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1542+113C>G	1.37:g.17322357G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	RNA	SNP	-	NULL	ENST00000326735.8	37	NULL	CCDS175.1	1																																																																																			ATP13A2	-	-		0.597	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	G	NM_022089		17322357	-1	no_errors	ENST00000502860	ensembl	human	known	70_37	rna	SNP	0.033	C
ATP13A4	84239	genome.wustl.edu	37	3	193174915	193174915	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:193174915G>A	ENST00000342695.4	-	16	2111	c.1789C>T	c.(1789-1791)Cat>Tat	p.H597Y	ATP13A4_ENST00000392443.3_Missense_Mutation_p.H578Y	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	597						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGGAACTGATGCAGGATTGCA	0.502																																																	0													129.0	115.0	120.0					3																	193174915		2203	4300	6503	SO:0001583	missense	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1789C>T	3.37:g.193174915G>A	ENSP00000339182:p.His597Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.H597Y	ENST00000342695.4	37	c.1789	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747180	0.89663	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.70164	-0.46;-0.46	5.86	5.86	0.93980	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.147080	0.48286	D	0.000200	D	0.82697	0.5093	M	0.80028	2.48	0.80722	D	1	D;D;D	0.69078	0.997;0.994;0.997	D;P;D	0.66351	0.943;0.905;0.943	D	0.83831	0.0252	10	0.66056	D	0.02	-16.5809	19.1654	0.93555	0.0:0.0:1.0:0.0	.	578;597;597	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	Y	578;597	ENSP00000376238:H578Y;ENSP00000339182:H597Y	ENSP00000339182:H597Y	H	-	1	0	ATP13A4	194657609	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.468000	0.80943	2.778000	0.95560	0.655000	0.94253	CAT	ATP13A4	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr		0.502	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	G	NM_032279		193174915	-1	no_errors	ENST00000342695	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP2A2	488	genome.wustl.edu	37	12	110782767	110782767	+	Missense_Mutation	SNP	C	C	G	rs538399392		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:110782767C>G	ENST00000539276.2	+	17	2707	c.2598C>G	c.(2596-2598)ttC>ttG	p.F866L	ATP2A2_ENST00000395494.2_Missense_Mutation_p.F839L|ATP2A2_ENST00000308664.6_Missense_Mutation_p.F866L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	866					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GAGTGTCCTTCTACCAGCTGG	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		22967	0.0		0.001	False		,,,				2504	0.0																0													256.0	174.0	202.0					12																	110782767		2203	4300	6503	SO:0001583	missense	488				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2598C>G	12.37:g.110782767C>G	ENSP00000440045:p.Phe866Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.F866L	ENST00000539276.2	37	c.2598	CCDS9144.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.14|16.14	3.038720|3.038720	0.55003|0.55003	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276|ENST00000548169	D;D;D|.	0.86956|.	-2.19;-2.19;-2.19|.	5.63|5.63	5.63|5.63	0.86233|0.86233	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);|.	0.095179|.	0.64402|.	D|.	0.000001|.	T|T	0.65565|0.65565	0.2703|0.2703	L|L	0.58925|0.58925	1.835|1.835	0.41614|0.41614	D|D	0.988927|0.988927	B;B;B|.	0.10296|.	0.002;0.001;0.003|.	B;B;B|.	0.17979|.	0.012;0.007;0.02|.	T|T	0.62937|0.62937	-0.6748|-0.6748	10|5	0.45353|.	T|.	0.12|.	.|.	13.7404|13.7404	0.62845|0.62845	0.0:0.9206:0.0:0.0794|0.0:0.9206:0.0:0.0794	.|.	839;866;866|.	P16615-4;P16615-2;P16615|.	.;.;AT2A2_HUMAN|.	L|V	866;839;866|757	ENSP00000311186:F866L;ENSP00000378872:F839L;ENSP00000440045:F866L|.	ENSP00000311186:F866L|.	F|L	+|+	3|1	2|2	ATP2A2|ATP2A2	109267150|109267150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	0.872000|0.872000	0.28037|0.28037	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	TTC|CTA	ATP2A2	-	pfam_ATPase_P-typ_cation-transptr_C		0.498	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	HGNC	protein_coding	OTTHUMT00000403539.1	C	NM_001681		110782767	+1	no_errors	ENST00000539276	ensembl	human	known	70_37	missense	SNP	1.000	G
ATP2B3	492	genome.wustl.edu	37	X	152807332	152807332	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:152807332C>G	ENST00000349466.2	+	4	938	c.612C>G	c.(610-612)ctC>ctG	p.L204L	ATP2B3_ENST00000359149.3_Silent_p.L204L|ATP2B3_ENST00000370186.1_Silent_p.L204L|ATP2B3_ENST00000370181.2_Silent_p.L204L|ATP2B3_ENST00000393842.1_Silent_p.L204L|ATP2B3_ENST00000263519.4_Silent_p.L204L			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	204					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCAGCTCCTCCAGGTCCCCG	0.622																																																	0													91.0	86.0	88.0					X																	152807332		2203	4300	6503	SO:0001819	synonymous_variant	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.612C>G	X.37:g.152807332C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.L204	ENST00000349466.2	37	c.612	CCDS35440.1	X																																																																																			ATP2B3	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_ion-transptr		0.622	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	C	NM_021949		152807332	+1	no_errors	ENST00000263519	ensembl	human	known	70_37	silent	SNP	0.617	G
JAM2	58494	genome.wustl.edu	37	21	27090013	27090013	+	IGR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:27090013G>C	ENST00000480456.1	+	0	4337				ATP5J_ENST00000400099.1_Missense_Mutation_p.I116M	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2						blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGCTGCTTAAGATTAGAATGT	0.383																																																	0													44.0	43.0	43.0					21																	27090013		876	1991	2867	SO:0001628	intergenic_variant	522			AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441		21.37:g.27090013G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	pfam_ATPase_F0-cplx_f6su_mt,superfamily_ATPase_F0-cplx_f6su_mt	p.I116M	ENST00000480456.1	37	c.348	CCDS42911.1	21	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217276	0.39201	.	.	ENSG00000154723	ENST00000400099	.	.	.	4.43	0.63	0.17693	.	0.479151	0.23069	N	0.052299	T	0.39600	0.1084	.	.	.	0.25975	N	0.982459	.	.	.	.	.	.	T	0.33137	-0.9880	6	0.87932	D	0	-18.3718	6.3793	0.21525	0.4215:0.0:0.5785:0.0	.	.	.	.	M	116	.	ENSP00000382971:I116M	I	-	3	3	ATP5J	26011884	0.889000	0.30405	0.157000	0.22605	0.880000	0.50808	0.585000	0.23879	0.098000	0.17522	-0.216000	0.12614	ATC	ATP5J	-	NULL		0.383	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP5J	HGNC	protein_coding	OTTHUMT00000171347.1	G			27090013	-1	no_errors	ENST00000400099	ensembl	human	putative	70_37	missense	SNP	0.205	C
ATP6V0B	533	genome.wustl.edu	37	1	44441391	44441391	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:44441391C>G	ENST00000472174.2	+	2	460				ATP6V0B_ENST00000532642.1_Intron|ATP6V0B_ENST00000498664.1_5'Flank|ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000472277.1_Intron|ATP6V0B_ENST00000471859.2_Intron	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GGTGGCCCTTCAGCTCGGCAG	0.547																																																	0																																										SO:0001627	intron_variant	533			BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"""ATPases / V-type"""	861	protein-coding gene	gene with protein product		603717	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD"", ""ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"""	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.68-81C>G	1.37:g.44441391C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPY5|Q6IB32	Nonsense_Mutation	SNP	NULL	p.S41*	ENST00000472174.2	37	c.122	CCDS505.1	1																																																																																			ATP6V0B	-	NULL		0.547	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0B	HGNC	protein_coding	OTTHUMT00000022854.2	C	NM_004047		44441391	+1	no_errors	ENST00000461670	ensembl	human	known	70_37	nonsense	SNP	0.001	G
ATP6V1A	523	genome.wustl.edu	37	3	113507617	113507617	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:113507617G>A	ENST00000273398.3	+	7	882	c.774G>A	c.(772-774)gtG>gtA	p.V258V	ATP6V1A_ENST00000538620.1_Silent_p.V225V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	258					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	GAAAGACAGTGATATCACAGT	0.423																																																	0													158.0	156.0	156.0					3																	113507617		2203	4300	6503	SO:0001819	synonymous_variant	523			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.774G>A	3.37:g.113507617G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Silent	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_a/bsu_N,tigrfam_ATPase_V1-cplx_asu	p.V258	ENST00000273398.3	37	c.774	CCDS2976.1	3																																																																																			ATP6V1A	-	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_asu		0.423	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1A	HGNC	protein_coding	OTTHUMT00000354457.1	G	NM_001690		113507617	+1	no_errors	ENST00000273398	ensembl	human	known	70_37	silent	SNP	0.999	A
ATP7B	540	genome.wustl.edu	37	13	52548826	52548826	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:52548826G>C	ENST00000242839.4	-	2	686	c.530C>G	c.(529-531)tCa>tGa	p.S177*	ATP7B_ENST00000542656.1_Nonsense_Mutation_p.S145*|ATP7B_ENST00000400366.3_Nonsense_Mutation_p.S177*|ATP7B_ENST00000344297.5_Nonsense_Mutation_p.S177*|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.S177*|ATP7B_ENST00000418097.2_Nonsense_Mutation_p.S177*|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Nonsense_Mutation_p.S177*	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	177	HMA 2. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GTTGCTGAGTGAGACTTTGAC	0.527									Wilson disease																																								0													52.0	55.0	54.0					13																	52548826		2095	4217	6312	SO:0001587	stop_gained	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.530C>G	13.37:g.52548826G>C	ENSP00000242839:p.Ser177*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Nonsense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.S177*	ENST00000242839.4	37	c.530	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	G	37	6.020989	0.97211	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097;ENST00000542656	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.6404	20.0246	0.97519	0.0:0.0:1.0:0.0	.	.	.	.	X	177;177;177;177;177;177;145	.	ENSP00000242839:S177X	S	-	2	0	ATP7B	51446827	1.000000	0.71417	0.953000	0.39169	0.573000	0.36030	7.030000	0.76484	2.750000	0.94351	0.561000	0.74099	TCA	ATP7B	-	pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd		0.527	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	G	NM_000053		52548826	-1	no_errors	ENST00000242839	ensembl	human	known	70_37	nonsense	SNP	1.000	C
ATP8B2	57198	genome.wustl.edu	37	1	154306644	154306644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:154306644G>A	ENST00000368489.3	+	10	750	c.750G>A	c.(748-750)tgG>tgA	p.W250*	ATP8B2_ENST00000368487.3_Nonsense_Mutation_p.W217*|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Nonsense_Mutation_p.W236*	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	236					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCCTCTACTGGAAGGAAAATA	0.512																																																	0													216.0	225.0	222.0					1																	154306644		2203	4300	6503	SO:0001587	stop_gained	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.750G>A	1.37:g.154306644G>A	ENSP00000357475:p.Trp250*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.W250*	ENST00000368489.3	37	c.750	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.185540	0.97357	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	.	.	.	5.3	5.3	0.74995	.	0.069961	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4199	0.60992	0.0:0.1576:0.8424:0.0	.	.	.	.	X	217;250;236	.	ENSP00000340448:W236X	W	+	3	0	ATP8B2	152573268	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.665000	0.83852	2.761000	0.94854	0.591000	0.81541	TGG	ATP8B2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.512	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	G	NM_020452		154306644	+1	no_errors	ENST00000368489	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ATP8B5P	158381	genome.wustl.edu	37	9	35473766	35473766	+	IGR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:35473766G>C								ATP8B5P (22654 upstream) : RUSC2 (64862 downstream)																							GACGGTCTCTGAGGTGAGTGA	0.473																																																	0																																										SO:0001628	intergenic_variant	158381																															9.37:g.35473766G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		9																																																																																			ATP8B5P	-	-	0	0.473					ATP8B5P	HGNC			G			35473766	+1	no_errors	ENST00000329395	ensembl	human	known	70_37	rna	SNP	0.685	C
ATR	545	genome.wustl.edu	37	3	142189021	142189021	+	Missense_Mutation	SNP	G	G	C	rs372864251		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:142189021G>C	ENST00000350721.4	-	37	6347	c.6226C>G	c.(6226-6228)Cta>Gta	p.L2076V	ATR_ENST00000383101.3_Missense_Mutation_p.L2012V|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2076	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCATATTGTAGAGATCTGCAA	0.303								Other conserved DNA damage response genes																																									0								G	VAL/LEU	0,4400		0,0,2200	97.0	87.0	91.0		6226	1.2	1.0	3		91	1,8597	1.2+/-3.3	0,1,4298	no	missense	ATR	NM_001184.3	32	0,1,6498	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	2076/2645	142189021	1,12997	2200	4299	6499	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6226C>G	3.37:g.142189021G>C	ENSP00000343741:p.Leu2076Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.L2076V	ENST00000350721.4	37	c.6226	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094890	0.56075	0.0	1.16E-4	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.72051	-0.62;-0.62	5.34	1.16	0.20824	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.077615	0.52532	D	0.000074	T	0.77082	0.4078	M	0.76727	2.345	0.58432	D	0.999999	D	0.58620	0.983	P	0.58077	0.832	T	0.74331	-0.3700	10	0.49607	T	0.09	-2.686	9.3603	0.38192	0.4707:0.0:0.5293:0.0	.	2076	Q13535	ATR_HUMAN	V	2076;2012	ENSP00000343741:L2076V;ENSP00000372581:L2012V	ENSP00000343741:L2076V	L	-	1	2	ATR	143671711	1.000000	0.71417	0.990000	0.47175	0.972000	0.66771	1.677000	0.37576	-0.015000	0.14150	0.585000	0.79938	CTA	ATR	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT		0.303	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	G	NM_001184		142189021	-1	no_errors	ENST00000350721	ensembl	human	known	70_37	missense	SNP	0.995	C
ATRAID	51374	genome.wustl.edu	37	2	27435216	27435216	+	5'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:27435216G>A	ENST00000606999.1	+	0	38				ATRAID_ENST00000405489.3_5'Flank|ATRAID_ENST00000380171.3_Missense_Mutation_p.G49R|SLC5A6_ENST00000408041.1_5'Flank|SLC5A6_ENST00000310574.3_5'Flank	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor						cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)											CGCGAGCAGCGGAGCACCAAG	0.741																																																	0													12.0	15.0	14.0					2																	27435216		1946	3749	5695	SO:0001623	5_prime_UTR_variant	51374			BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"""apoptosis-related protein 3"""		"""chromosome 2 open reading frame 28"""	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405	ENST00000606999.1:c.-21G>A	2.37:g.27435216G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Missense_Mutation	SNP	pfscan_EG-like_dom	p.G49R	ENST00000606999.1	37	c.145		2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071797	0.76301	.	.	ENSG00000138085	ENST00000380171	T	0.53857	0.6	5.16	-10.3	0.00346	.	1.231680	0.05983	N	0.644665	T	0.27063	0.0663	N	0.19112	0.55	0.09310	N	0.999996	B	0.11235	0.004	B	0.06405	0.002	T	0.25222	-1.0138	10	0.59425	D	0.04	-0.4852	1.8967	0.03259	0.1712:0.3394:0.273:0.2164	.	49	Q6UW56-3	.	R	49	ENSP00000369518:G49R	ENSP00000369518:G49R	G	+	1	0	C2orf28	27288720	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.326000	0.02685	-2.370000	0.00602	-0.311000	0.09066	GGA	ATRAID	-	NULL		0.741	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	ATRAID	HGNC	protein_coding	OTTHUMT00000470709.1	G	NM_016085		27435216	+1	no_errors	ENST00000380171	ensembl	human	known	70_37	missense	SNP	0.000	A
ATRN	8455	genome.wustl.edu	37	20	3452162	3452162	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:3452162C>T	ENST00000262919.5	+	1	476	c.408C>T	c.(406-408)ttC>ttT	p.F136F	ATRN_ENST00000446916.2_Silent_p.F136F	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	136	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GGGGCCGCTTCAGGTGAGTGG	0.701																																																	0													3.0	4.0	4.0					20																	3452162		1845	3840	5685	SO:0001819	synonymous_variant	8455			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.408C>T	20.37:g.3452162C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Silent	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.F136	ENST00000262919.5	37	c.408	CCDS13053.1	20																																																																																			ATRN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.701	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2	C	NM_139321		3452162	+1	no_errors	ENST00000262919	ensembl	human	known	70_37	silent	SNP	1.000	T
ATXN1	6310	genome.wustl.edu	37	6	16328526	16328526	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:16328526C>G	ENST00000244769.4	-	8	952	c.16G>C	c.(16-18)Gag>Cag	p.E6Q	ATXN1_ENST00000436367.1_Missense_Mutation_p.E6Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	6					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTGCTCCGCTCTTGGTTGGAT	0.567																																																	0													36.0	35.0	35.0					6																	16328526		2197	4284	6481	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.16G>C	6.37:g.16328526C>G	ENSP00000244769:p.Glu6Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.E6Q	ENST00000244769.4	37	c.16	CCDS34342.1	6	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965807	0.92855	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.49432	0.78;0.78	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68918	-0.5282	10	0.87932	D	0	-30.3435	18.7977	0.92001	0.0:1.0:0.0:0.0	.	6	P54253	ATX1_HUMAN	Q	6	ENSP00000244769:E6Q;ENSP00000416360:E6Q	ENSP00000244769:E6Q	E	-	1	0	ATXN1	16436505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.213000	0.77950	2.666000	0.90696	0.561000	0.74099	GAG	ATXN1	-	NULL		0.567	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	HGNC	protein_coding	OTTHUMT00000039943.3	C	NM_000332		16328526	-1	no_errors	ENST00000244769	ensembl	human	known	70_37	missense	SNP	1.000	G
AVIL	10677	genome.wustl.edu	37	12	58204681	58204681	+	Missense_Mutation	SNP	C	C	G	rs150762636		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:58204681C>G	ENST00000257861.3	-	5	906	c.476G>C	c.(475-477)cGa>cCa	p.R159P	AVIL_ENST00000537081.1_Missense_Mutation_p.R152P	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	159	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GACATCACCTCGGTTGAAACT	0.542																																																	0													143.0	144.0	143.0					12																	58204681		2203	4300	6503	SO:0001583	missense	10677			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.476G>C	12.37:g.58204681C>G	ENSP00000257861:p.Arg159Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAU7|Q2NKM9	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.R159P	ENST00000257861.3	37	c.476	CCDS8959.1	12	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711521	0.48517	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.30182	1.54;1.54	5.35	-3.19	0.05171	Gelsolin domain (1);	0.893166	0.09817	N	0.751962	T	0.22704	0.0548	N	0.13043	0.29	0.18873	N	0.999985	B;P	0.35107	0.282;0.484	B;P	0.47102	0.333;0.537	T	0.43734	-0.9373	10	0.62326	D	0.03	0.1841	4.6809	0.12734	0.3238:0.3314:0.0:0.3447	.	152;159	O75366-2;O75366	.;AVIL_HUMAN	P	152;159	ENSP00000443207:R152P;ENSP00000257861:R159P	ENSP00000257861:R159P	R	-	2	0	AVIL	56490948	0.000000	0.05858	0.555000	0.28281	0.985000	0.73830	-3.400000	0.00484	-0.370000	0.08016	0.655000	0.94253	CGA	AVIL	-	pfam_Gelsolin_dom,smart_Gelsolin		0.542	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVIL	HGNC	protein_coding	OTTHUMT00000409276.1	C	NM_006576		58204681	-1	no_errors	ENST00000257861	ensembl	human	known	70_37	missense	SNP	0.000	G
ATXN2	6311	genome.wustl.edu	37	12	111893951	111893951	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:111893951G>C	ENST00000377617.3	-	23	3787	c.3626C>G	c.(3625-3627)tCc>tGc	p.S1209C	ATXN2_ENST00000535949.1_Missense_Mutation_p.S902C|ATXN2_ENST00000389153.4_Missense_Mutation_p.S946C|ATXN2_ENST00000608853.1_Missense_Mutation_p.S1049C|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000542287.2_Missense_Mutation_p.S944C	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1209					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CTGCGTGTTGGAGGCAGGTGT	0.597																																																	0													329.0	289.0	303.0					12																	111893951		2203	4300	6503	SO:0001583	missense	6311			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3626C>G	12.37:g.111893951G>C	ENSP00000366843:p.Ser1209Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.S1209C	ENST00000377617.3	37	c.3626	CCDS31902.1	12	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471028	0.84533	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949;ENST00000550844	T	0.66460	-0.21	5.95	5.95	0.96441	.	0.054903	0.85682	D	0.000000	T	0.71178	0.3309	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.997;1.0;0.999	D;D;P;D;P	0.69142	0.935;0.962;0.788;0.936;0.871	T	0.75175	-0.3410	10	0.66056	D	0.02	-10.4975	20.3789	0.98926	0.0:0.0:1.0:0.0	.	210;1209;902;944;946	Q99700-3;Q99700;Q24JQ7;F8VQP2;F8WB06	.;ATX2_HUMAN;.;.;.	C	264;946;1209;210;944;902;134	ENSP00000366843:S1209C	ENSP00000366843:S1209C	S	-	2	0	ATXN2	110378334	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.847000	0.92166	2.826000	0.97356	0.563000	0.77884	TCC	ATXN2	-	NULL		0.597	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	G	NM_002973		111893951	-1	no_errors	ENST00000377617	ensembl	human	known	70_37	missense	SNP	1.000	C
B4GALT3	8703	genome.wustl.edu	37	1	161141164	161141164	+	3'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:161141164G>A	ENST00000319769.5	-	0	1846				PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_3'UTR|B4GALT3_ENST00000470882.1_5'UTR	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3						carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	AGGACCAGAAGAGGGAGCTAT	0.478																																																	0																																										SO:0001624	3_prime_UTR_variant	8703			BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.*442C>T	1.37:g.161141164G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVG3|O60910|Q9BPZ4|Q9H8T2	RNA	SNP	-	NULL	ENST00000319769.5	37	NULL	CCDS1222.1	1																																																																																			B4GALT3	-	-		0.478	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT3	HGNC	protein_coding	OTTHUMT00000083054.1	G	NM_003779		161141164	-1	no_errors	ENST00000470882	ensembl	human	known	70_37	rna	SNP	0.641	A
B4GALT5	9334	genome.wustl.edu	37	20	48260132	48260132	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:48260132G>C	ENST00000371711.4	-	4	607	c.420C>G	c.(418-420)ctC>ctG	p.L140L		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	140					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CTTTGGAGAAGAGTTCATGAA	0.458																																																	0													198.0	175.0	183.0					20																	48260132		2203	4300	6503	SO:0001819	synonymous_variant	9334			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.420C>G	20.37:g.48260132G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P625|Q2M394|Q9UJQ8	Silent	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.L140	ENST00000371711.4	37	c.420	CCDS13420.1	20																																																																																			B4GALT5	-	pfam_Galactosyl_T_2_met		0.458	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT5	HGNC	protein_coding	OTTHUMT00000080543.3	G	NM_004776		48260132	-1	no_errors	ENST00000371711	ensembl	human	known	70_37	silent	SNP	0.937	C
CHMP5	51510	genome.wustl.edu	37	9	33262125	33262125	+	5'Flank	SNP	G	G	C	rs529463635		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:33262125G>C	ENST00000223500.8	+	0	0				BAG1_ENST00000472232.3_Intron|BAG1_ENST00000379704.2_Intron|BAG1_ENST00000467389.2_5'Flank|CHMP5_ENST00000419016.2_5'Flank	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5						endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			GACTGCCCATGAGCTTCATCG	0.413																																																	0																																										SO:0001631	upstream_gene_variant	573			AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"""Charged multivesicular body proteins"""	26942	protein-coding gene	gene with protein product		610900	"""chromosome 9 open reading frame 83"", ""chromatin modifying protein 5"""	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765		9.37:g.33262125G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Missense_Mutation	SNP	NULL	p.H119D	ENST00000223500.8	37	c.355	CCDS6537.1	9																																																																																			BAG1	-	NULL		0.413	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG1	HGNC	protein_coding	OTTHUMT00000052040.3	G	NM_016410		33262125	-1	no_errors	ENST00000379707	ensembl	human	known	70_37	missense	SNP	0.000	C
BAG5	9529	genome.wustl.edu	37	14	104026644	104026644	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:104026644C>T	ENST00000445922.2	-	2	1104	c.858G>A	c.(856-858)atG>atA	p.M286I	BAG5_ENST00000299204.4_Missense_Mutation_p.M286I|APOPT1_ENST00000556253.2_5'Flank|BAG5_ENST00000337322.4_Missense_Mutation_p.M327I|APOPT1_ENST00000409074.2_5'Flank|RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000247618.4_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	286	BAG 4. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.M286I(1)		endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TTATTTCTCTCATTCTCTTGA	0.373																																					NSCLC(171;1832 2055 18950 31566 41632)												1	Substitution - Missense(1)	endometrium(1)											96.0	104.0	101.0					14																	104026644		2203	4300	6503	SO:0001583	missense	9529			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.858G>A	14.37:g.104026644C>T	ENSP00000391713:p.Met286Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	O94950|Q86W59	Missense_Mutation	SNP	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.M327I	ENST00000445922.2	37	c.981	CCDS9982.1	14	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397537	0.42512	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	D;D;D	0.87029	-2.2;-2.2;-2.2	5.65	5.65	0.86999	BAG domain (3);	0.372679	0.30501	N	0.009483	T	0.77384	0.4122	N	0.14661	0.345	0.35385	D	0.790217	B;B	0.28933	0.072;0.228	B;B	0.27796	0.067;0.083	T	0.80679	-0.1275	10	0.51188	T	0.08	-53.2142	13.0002	0.58670	0.0:0.9265:0.0:0.0735	.	286;327	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	I	286;286;327	ENSP00000299204:M286I;ENSP00000391713:M286I;ENSP00000338814:M327I	ENSP00000299204:M286I	M	-	3	0	BAG5	103096397	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.642000	0.54367	2.670000	0.90874	0.655000	0.94253	ATG	BAG5	-	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain		0.373	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG5	HGNC	protein_coding	OTTHUMT00000414990.1	C			104026644	-1	no_errors	ENST00000337322	ensembl	human	known	70_37	missense	SNP	1.000	T
BAGE2	85319	genome.wustl.edu	37	21	11038739	11038739	+	RNA	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:11038739G>C	ENST00000470054.1	-	0	1464							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTTTGGACCGAGGTCTACCA	0.388																																																	0																																												85319			AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038739G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K925|Q08ER0	RNA	SNP	-	NULL	ENST00000470054.1	37	NULL		21																																																																																			BAGE2	-	-		0.388	BAGE2-001	KNOWN	basic	processed_transcript	BAGE2	HGNC	pseudogene	OTTHUMT00000157417.3	G	NM_182482		11038739	-1	no_errors	ENST00000470054	ensembl	human	known	70_37	rna	SNP	0.994	C
BAHCC1	57597	genome.wustl.edu	37	17	79409042	79409042	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:79409042G>C	ENST00000307745.7	+	9	667	c.667G>C	c.(667-669)Gag>Cag	p.E223Q																								CGTGGGCAAAGAGCTGGGCAG	0.692																																																	0													19.0	25.0	23.0					17																	79409042		2089	4189	6278	SO:0001583	missense	57597																														ENST00000307745.7:c.667G>C	17.37:g.79409042G>C	ENSP00000303486:p.Glu223Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.E223Q	ENST00000307745.7	37	c.667		17	.	.	.	.	.	.	.	.	.	.	g	14.80	2.643369	0.47153	.	.	ENSG00000171282	ENST00000307745	T	0.12465	2.68	2.81	2.81	0.32909	.	.	.	.	.	T	0.15349	0.0370	L	0.44542	1.39	0.23421	N	0.997718	D	0.58268	0.982	P	0.46362	0.514	T	0.10917	-1.0609	9	0.36615	T	0.2	.	11.3941	0.49832	0.0:0.0:1.0:0.0	.	223	Q9P281	BAHC1_HUMAN	Q	223	ENSP00000303486:E223Q	ENSP00000303486:E223Q	E	+	1	0	AC110285.1	77023637	0.990000	0.36364	0.931000	0.37212	0.605000	0.37080	1.050000	0.30404	1.572000	0.49736	0.298000	0.19748	GAG	BAHCC1	-	NULL		0.692	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	HGNC	protein_coding		G			79409042	+1	no_errors	ENST00000307745	ensembl	human	known	70_37	missense	SNP	0.720	C
BAHCC1	57597	genome.wustl.edu	37	17	79423343	79423343	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:79423343G>C	ENST00000307745.7	+	20	4590	c.4590G>C	c.(4588-4590)aaG>aaC	p.K1530N																								AGTGTAAGAAGAGCAGCTGTC	0.647																																																	0													11.0	13.0	12.0					17																	79423343		1878	4040	5918	SO:0001583	missense	57597																														ENST00000307745.7:c.4590G>C	17.37:g.79423343G>C	ENSP00000303486:p.Lys1530Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.K1530N	ENST00000307745.7	37	c.4590		17	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993804	0.35131	.	.	ENSG00000171282	ENST00000307745	T	0.26660	1.72	4.69	0.443	0.16587	.	0.289567	0.27567	N	0.018790	T	0.36771	0.0979	M	0.71581	2.175	0.28527	N	0.912778	P;D	0.56746	0.933;0.977	P;P	0.55923	0.462;0.787	T	0.21484	-1.0244	10	0.41790	T	0.15	.	8.5827	0.33640	0.3328:0.0:0.6672:0.0	.	1530;1530	Q9P281;F8WBW8	BAHC1_HUMAN;.	N	1530	ENSP00000303486:K1530N	ENSP00000303486:K1530N	K	+	3	2	AC110285.1	77037938	0.002000	0.14202	0.644000	0.29465	0.071000	0.16799	0.091000	0.15046	0.092000	0.17331	0.462000	0.41574	AAG	BAHCC1	-	NULL		0.647	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	HGNC	protein_coding		G			79423343	+1	no_errors	ENST00000307745	ensembl	human	known	70_37	missense	SNP	0.959	C
BAI2	576	genome.wustl.edu	37	1	32203073	32203073	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:32203073G>C	ENST00000373658.3	-	20	3277	c.2936C>G	c.(2935-2937)tCc>tGc	p.S979C	BAI2_ENST00000398556.3_Missense_Mutation_p.S927C|BAI2_ENST00000398547.1_Missense_Mutation_p.S912C|BAI2_ENST00000398538.1_Missense_Mutation_p.S967C|BAI2_ENST00000373655.2_Missense_Mutation_p.S979C|BAI2_ENST00000398542.1_Missense_Mutation_p.S912C|BAI2_ENST00000440175.2_Missense_Mutation_p.S621C|BAI2_ENST00000527361.1_Missense_Mutation_p.S979C|BAI2_ENST00000257070.4_Missense_Mutation_p.S979C|BAI2_ENST00000465256.1_5'Flank	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	979					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAGGATGTTGGATGCCAAGAT	0.617																																																	0													131.0	117.0	122.0					1																	32203073		2203	4300	6503	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2936C>G	1.37:g.32203073G>C	ENSP00000362762:p.Ser979Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.S979C	ENST00000373658.3	37	c.2936	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607069	0.87157	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.04	5.04	0.67666	GPCR, family 2-like (1);	0.000000	0.42420	D	0.000705	T	0.67088	0.2856	M	0.87758	2.905	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.998;0.997;0.999;0.999	T	0.73186	-0.4062	10	0.87932	D	0	.	18.8871	0.92383	0.0:0.0:1.0:0.0	.	979;967;621;979;979	O60241-4;O60241-3;B4DKC3;O60241-2;O60241	.;.;.;.;BAI2_HUMAN	C	927;912;979;979;912;979;979;621;967	ENSP00000381564:S927C;ENSP00000381555:S912C;ENSP00000362762:S979C;ENSP00000362759:S979C;ENSP00000381550:S912C;ENSP00000257070:S979C;ENSP00000435397:S979C;ENSP00000391071:S621C;ENSP00000381548:S967C	ENSP00000257070:S979C	S	-	2	0	BAI2	31975660	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.686000	0.98664	2.724000	0.93272	0.561000	0.74099	TCC	BAI2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.617	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	G	NM_001703		32203073	-1	no_errors	ENST00000373658	ensembl	human	known	70_37	missense	SNP	1.000	C
BAIAP3	8938	genome.wustl.edu	37	16	1392548	1392548	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:1392548C>T	ENST00000324385.5	+	12	1241	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V	BAIAP3_ENST00000562208.1_Silent_p.V303V|BAIAP3_ENST00000397489.1_Silent_p.V343V|BAIAP3_ENST00000568887.1_Silent_p.V298V|BAIAP3_ENST00000421665.2_Intron|BAIAP3_ENST00000426824.3_Silent_p.V326V|BAIAP3_ENST00000397488.2_Silent_p.V343V	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	361					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGGCTGGCGTCGACCGCTGGT	0.642																																																	0													15.0	13.0	13.0					16																	1392548		2106	4181	6287	SO:0001819	synonymous_variant	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1083C>T	16.37:g.1392548C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.V361	ENST00000324385.5	37	c.1083	CCDS10434.1	16																																																																																			BAIAP3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.642	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	C			1392548	+1	no_errors	ENST00000324385	ensembl	human	known	70_37	silent	SNP	0.002	T
BANP	54971	genome.wustl.edu	37	16	88104768	88104768	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:88104768G>A	ENST00000393207.1	+	13	1565				BANP_ENST00000355022.4_Intron|BANP_ENST00000355163.5_Intron|BANP_ENST00000538234.1_Intron|BANP_ENST00000479780.2_Intron|BANP_ENST00000481948.1_3'UTR|BANP_ENST00000286122.7_Intron|BANP_ENST00000393208.2_Intron	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein						cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GGCCACCGGTGAGACTCTCAG	0.672																																																	0																																										SO:0001627	intron_variant	54971			AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1345-907G>A	16.37:g.88104768G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	RNA	SNP	-	NULL	ENST00000393207.1	37	NULL	CCDS54054.1	16																																																																																			BANP	-	-		0.672	BANP-002	KNOWN	basic|CCDS	protein_coding	BANP	HGNC	protein_coding	OTTHUMT00000269166.1	G	NM_017869		88104768	+1	no_errors	ENST00000481948	ensembl	human	known	70_37	rna	SNP	0.003	A
BARD1	580	genome.wustl.edu	37	2	215646072	215646072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:215646072G>A	ENST00000260947.4	-	4	660	c.526C>T	c.(526-528)Cag>Tag	p.Q176*	BARD1_ENST00000449967.2_Nonsense_Mutation_p.Q32*|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	176					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGTCTTGCTGAGCACTTGCA	0.393									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								0													98.0	98.0	98.0					2																	215646072		2203	4300	6503	SO:0001587	stop_gained	580	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.526C>T	2.37:g.215646072G>A	ENSP00000260947:p.Gln176*	Somatic		WXS	Illumina HiSeq	Phase_IV	F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.Q176*	ENST00000260947.4	37	c.526	CCDS2397.1	2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327790	0.81690	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	.	.	.	5.75	1.71	0.24356	.	0.963978	0.08647	N	0.914677	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-2.6576	6.566	0.22513	0.0672:0.2402:0.5687:0.124	.	.	.	.	X	176;32	.	ENSP00000260947:Q176X	Q	-	1	0	BARD1	215354317	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.310000	0.19356	0.386000	0.24997	-0.182000	0.12963	CAG	BARD1	-	NULL		0.393	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	HGNC	protein_coding	OTTHUMT00000256602.1	G	NM_000465		215646072	-1	no_errors	ENST00000260947	ensembl	human	known	70_37	nonsense	SNP	0.000	A
BATF3	55509	genome.wustl.edu	37	1	212860190	212860190	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:212860190C>G	ENST00000243440.1	-	3	549	c.327G>C	c.(325-327)atG>atC	p.M109I	BATF3_ENST00000478275.1_5'UTR	NM_018664.2	NP_061134.1	Q9NR55	BATF3_HUMAN	basic leucine zipper transcription factor, ATF-like 3	109					dendritic cell differentiation (GO:0097028)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781)		GCACAAAGTTCATAGGGCAGA	0.622																																																	0													100.0	94.0	96.0					1																	212860190		2203	4300	6503	SO:0001583	missense	55509			AF255346	CCDS1508.1	1q32.3	2013-01-10			ENSG00000123685	ENSG00000123685		"""basic leucine zipper proteins"""	28915	protein-coding gene	gene with protein product	"""Jun dimerization protein 1"""	612470				10878360, 12087103	Standard	NM_018664		Approved	JUNDM1, SNFT, JDP1	uc001hjl.2	Q9NR55	OTTHUMG00000036807	ENST00000243440.1:c.327G>C	1.37:g.212860190C>G	ENSP00000243440:p.Met109Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.M109I	ENST00000243440.1	37	c.327	CCDS1508.1	1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916738	0.33815	.	.	ENSG00000123685	ENST00000243440	T	0.55052	0.54	5.11	4.18	0.49190	.	0.272209	0.32785	N	0.005654	T	0.44808	0.1311	L	0.60455	1.87	0.35219	D	0.775885	B	0.02656	0.0	B	0.01281	0.0	T	0.49437	-0.8940	10	0.26408	T	0.33	-3.554	8.2229	0.31552	0.0:0.7556:0.1597:0.0847	.	109	Q9NR55	BATF3_HUMAN	I	109	ENSP00000243440:M109I	ENSP00000243440:M109I	M	-	3	0	BATF3	210926813	1.000000	0.71417	0.985000	0.45067	0.911000	0.54048	2.640000	0.46579	1.122000	0.41944	0.655000	0.94253	ATG	BATF3	-	NULL		0.622	BATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BATF3	HGNC	protein_coding	OTTHUMT00000089403.1	C	NM_018664		212860190	-1	no_errors	ENST00000243440	ensembl	human	known	70_37	missense	SNP	0.997	G
BBS7	55212	genome.wustl.edu	37	4	122749661	122749661	+	Splice_Site	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:122749661C>G	ENST00000264499.4	-	17	1970		c.e17-1		BBS7_ENST00000506636.1_Splice_Site	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7						brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCATTTATCTCTAGAAGGAGT	0.323									Bardet-Biedl syndrome																																								0													122.0	119.0	120.0					4																	122749661		2203	4300	6503	SO:0001630	splice_region_variant	55212	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1787-1G>C	4.37:g.122749661C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5P8|Q8N581|Q9NVI4	Splice_Site	SNP	-	e17-1	ENST00000264499.4	37	c.1787-1	CCDS3724.1	4	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925250	0.73213	.	.	ENSG00000138686	ENST00000264499;ENST00000507814;ENST00000506636	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9215	0.97087	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BBS7	122969111	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.713000	0.84693	2.785000	0.95823	0.655000	0.94253	.	BBS7	-	-		0.323	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS7	HGNC	protein_coding	OTTHUMT00000256716.1	C		Intron	122749661	-1	no_errors	ENST00000264499	ensembl	human	known	70_37	splice_site	SNP	1.000	G
BCAR3	8412	genome.wustl.edu	37	1	94032962	94032962	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:94032962C>T	ENST00000370244.1	-	13	2461	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K	BCAR3_ENST00000370243.1_Missense_Mutation_p.E725K|BCAR3_ENST00000370247.3_Missense_Mutation_p.E634K|BCAR3_ENST00000260502.6_Missense_Mutation_p.E725K|BCAR3_ENST00000539242.1_Missense_Mutation_p.E401K	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	725	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TCGGTTCCTTCAAAAGTCACA	0.507																																																	0													143.0	128.0	133.0					1																	94032962		2203	4300	6503	SO:0001583	missense	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2173G>A	1.37:g.94032962C>T	ENSP00000359264:p.Glu725Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.E725K	ENST00000370244.1	37	c.2173	CCDS745.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.821256	0.96989	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.85	5.85	0.93711	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.48502	0.1503	M	0.78801	2.425	0.80722	D	1	D;D	0.65815	0.995;0.98	P;P	0.59948	0.866;0.724	T	0.39502	-0.9611	10	0.44086	T	0.13	-15.8887	20.1577	0.98120	0.0:1.0:0.0:0.0	.	725;634	O75815;Q5TEW3	BCAR3_HUMAN;.	K	634;725;725;725;401	ENSP00000359267:E634K;ENSP00000260502:E725K;ENSP00000359264:E725K;ENSP00000359263:E725K;ENSP00000441343:E401K	ENSP00000260502:E725K	E	-	1	0	BCAR3	93805550	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.461000	0.80834	2.767000	0.95098	0.655000	0.94253	GAA	BCAR3	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.507	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	HGNC	protein_coding	OTTHUMT00000028420.1	C			94032962	-1	no_errors	ENST00000260502	ensembl	human	known	70_37	missense	SNP	1.000	T
BCAR4	400500	genome.wustl.edu	37	16	11913897	11913897	+	lincRNA	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:11913897G>C	ENST00000573319.1	-	0	1082					NR_024049.1				breast cancer anti-estrogen resistance 4 (non-protein coding)																		AGTTCTCGTCGACTGTAACCG	0.458																																																	0																																												400500					16p13.13	2012-10-16	2011-08-30		ENSG00000262117	ENSG00000262117		"""Long non-coding RNAs"""	22170	non-coding RNA	RNA, long non-coding		613746	"""breast cancer anti-estrogen resistance 4"""			16778085	Standard	NR_024050		Approved		uc010uyv.2		OTTHUMG00000177469		16.37:g.11913897G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000573319.1	37	NULL		16																																																																																			BCAR4	-	-		0.458	BCAR4-001	KNOWN	basic	lincRNA	BCAR4	HGNC	lincRNA	OTTHUMT00000437085.1	G			11913897	-1	no_errors	ENST00000571158	ensembl	human	known	70_37	rna	SNP	0.000	C
BCL6	604	genome.wustl.edu	37	3	187447542	187447542	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:187447542C>T	ENST00000406870.2	-	5	1017	c.651G>A	c.(649-651)cgG>cgA	p.R217R	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Silent_p.R217R|BCL6_ENST00000450123.2_Silent_p.R217R|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	217					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CCACAGGCATCCGGACATCCC	0.612			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	0													44.0	44.0	44.0					3																	187447542		2203	4300	6503	SO:0001819	synonymous_variant	604				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.651G>A	3.37:g.187447542C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E241|B8PSA7|D3DNV5	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R217	ENST00000406870.2	37	c.651	CCDS3289.1	3																																																																																			BCL6	-	NULL		0.612	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6	HGNC	protein_coding	OTTHUMT00000344202.1	C	NM_138931		187447542	-1	no_errors	ENST00000232014	ensembl	human	known	70_37	silent	SNP	1.000	T
BCL9L	283149	genome.wustl.edu	37	11	118769063	118769063	+	3'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:118769063G>C	ENST00000334801.3	-	0	5525				BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like						canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TTGAGGGGAAGAACTTTGTTA	0.607																																																	0																																										SO:0001624	3_prime_UTR_variant	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.*61C>G	11.37:g.118769063G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	RNA	SNP	-	NULL	ENST00000334801.3	37	NULL	CCDS8403.1	11																																																																																			BCL9L	-	-		0.607	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	G	NM_182557		118769063	-1	no_errors	ENST00000526143	ensembl	human	known	70_37	rna	SNP	0.000	C
BCLAF1	9774	genome.wustl.edu	37	6	136597237	136597237	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:136597237C>G	ENST00000531224.1	-	5	1678	c.1426G>C	c.(1426-1428)Gat>Cat	p.D476H	BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D474H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D476H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D474H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D474H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	476					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGTGCTTATCTTTTGTAGTG	0.343																																					Colon(142;1534 1789 5427 7063 28491)												0													138.0	144.0	142.0					6																	136597237		2203	4300	6503	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1426G>C	6.37:g.136597237C>G	ENSP00000435210:p.Asp476His	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	NULL	p.D476H	ENST00000531224.1	37	c.1426	CCDS5177.1	6	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849643	0.51270	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000006	T	0.08626	0.0214	N	0.24115	0.695	0.80722	D	1	B;B;B	0.28713	0.123;0.22;0.123	B;B;B	0.30179	0.063;0.112;0.063	T	0.11299	-1.0593	10	0.72032	D	0.01	-5.8407	19.2018	0.93714	0.0:1.0:0.0:0.0	.	474;474;476	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	H	476;474;476;474;474;476	ENSP00000435210:D476H;ENSP00000229446:D474H;ENSP00000435441:D476H;ENSP00000434826:D474H;ENSP00000376159:D474H;ENSP00000431734:D476H	ENSP00000229446:D474H	D	-	1	0	BCLAF1	136638930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.375000	0.52410	2.611000	0.88343	0.644000	0.83932	GAT	BCLAF1	-	NULL		0.343	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	C	NM_014739		136597237	-1	no_errors	ENST00000531224	ensembl	human	known	70_37	missense	SNP	1.000	G
BCOR	54880	genome.wustl.edu	37	X	39937175	39937175	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:39937175G>C	ENST00000378444.4	-	2	236	c.8C>G	c.(7-9)tCa>tGa	p.S3*	BCOR_ENST00000397354.3_Nonsense_Mutation_p.S3*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.S3*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.S3*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	3					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGGGTTGCTGAGAGCATGTC	0.532			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													111.0	87.0	96.0					X																	39937175		2202	4300	6502	SO:0001587	stop_gained	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.8C>G	X.37:g.39937175G>C	ENSP00000367705:p.Ser3*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S3*	ENST00000378444.4	37	c.8	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.617001	0.97709	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000412952	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.2594	18.4322	0.90630	0.0:0.0:1.0:0.0	.	.	.	.	X	3	.	.	S	-	2	0	BCOR	39822119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.159000	0.77483	2.292000	0.77174	0.513000	0.50165	TCA	BCOR	-	NULL		0.532	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	G	NM_017745		39937175	-1	no_errors	ENST00000378444	ensembl	human	known	70_37	nonsense	SNP	1.000	C
BCORL1	63035	genome.wustl.edu	37	X	129173217	129173217	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:129173217G>A	ENST00000218147.7	+	10	4775	c.4578G>A	c.(4576-4578)atG>atA	p.M1526I	BCORL1_ENST00000359304.2_Missense_Mutation_p.M1396I|BCORL1_ENST00000303743.5_Missense_Mutation_p.M1600I|BCORL1_ENST00000540052.1_Missense_Mutation_p.M1526I			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1526					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGACAGCCATGAAGCTGGCCA	0.557																																																	0													115.0	76.0	90.0					X																	129173217		2203	4300	6503	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4578G>A	X.37:g.129173217G>A	ENSP00000218147:p.Met1526Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M1600I	ENST00000218147.7	37	c.4800	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	G	16.28	3.080157	0.55753	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	5.47	5.47	0.80525	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.49338	0.1551	N	0.03115	-0.41	0.42198	D	0.991753	B;B	0.33841	0.428;0.025	B;B	0.36030	0.216;0.089	T	0.57866	-0.7737	9	0.51188	T	0.08	-13.8462	18.4786	0.90802	0.0:0.0:1.0:0.0	.	1600;1526	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	I	1526;1600;1396;1526;1200	ENSP00000218147:M1526I;ENSP00000307541:M1600I;ENSP00000352253:M1396I;ENSP00000437775:M1526I;ENSP00000399483:M1200I	ENSP00000218147:M1526I	M	+	3	0	BCORL1	129000898	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.784000	0.62411	2.305000	0.77605	0.529000	0.55759	ATG	BCORL1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.557	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	G	NM_021946		129173217	+1	no_errors	ENST00000303743	ensembl	human	known	70_37	missense	SNP	1.000	A
BDH1	622	genome.wustl.edu	37	3	197239047	197239047	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:197239047C>T	ENST00000392378.2	-	7	1061	c.751G>A	c.(751-753)Gag>Aag	p.E251K	BDH1_ENST00000392379.1_Missense_Mutation_p.E251K|BDH1_ENST00000441275.1_Missense_Mutation_p.E164K|BDH1_ENST00000358186.2_Missense_Mutation_p.E251K	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	251					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		TGAATGCTCTCAGGGCTGTAA	0.567																																																	0													79.0	70.0	73.0					3																	197239047		2203	4300	6503	SO:0001583	missense	622			M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.751G>A	3.37:g.197239047C>T	ENSP00000376183:p.Glu251Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.E251K	ENST00000392378.2	37	c.751	CCDS3328.1	3	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593724	0.66219	.	.	ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275;ENST00000446746	D;D;D;D;T	0.92965	-3.14;-3.14;-3.14;-3.14;-1.38	5.6	3.81	0.43845	NAD(P)-binding domain (1);	0.045500	0.85682	D	0.000000	D	0.91928	0.7444	M	0.74546	2.27	0.58432	D	0.999993	P	0.47910	0.902	P	0.47251	0.542	D	0.89703	0.3906	10	0.39692	T	0.17	.	10.408	0.44276	0.0:0.8401:0.0:0.1599	.	251	Q02338	BDH_HUMAN	K	251;251;251;164;164	ENSP00000376183:E251K;ENSP00000350914:E251K;ENSP00000376184:E251K;ENSP00000411014:E164K;ENSP00000387648:E164K	ENSP00000350914:E251K	E	-	1	0	BDH1	198723444	1.000000	0.71417	0.710000	0.30468	0.882000	0.50991	4.974000	0.63771	0.848000	0.35191	0.591000	0.81541	GAG	BDH1	-	NULL		0.567	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDH1	HGNC	protein_coding	OTTHUMT00000340267.1	C	NM_004051		197239047	-1	no_errors	ENST00000358186	ensembl	human	known	70_37	missense	SNP	0.994	T
BEGAIN	57596	genome.wustl.edu	37	14	101012896	101012896	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:101012896C>T	ENST00000355173.2	-	3	189	c.118G>A	c.(118-120)Gag>Aag	p.E40K	BEGAIN_ENST00000443071.2_Missense_Mutation_p.E40K|BEGAIN_ENST00000556751.1_5'UTR|BEGAIN_ENST00000554747.1_5'UTR	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	40						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				AGCTCGATCTCCAGGTAGTGG	0.697																																					NSCLC(159;1889 2010 9965 27479 40101)												0													67.0	64.0	65.0					14																	101012896		2203	4300	6503	SO:0001583	missense	57596			BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.118G>A	14.37:g.101012896C>T	ENSP00000347301:p.Glu40Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NPU3|Q9P282	Missense_Mutation	SNP	superfamily_Prefoldin	p.E40K	ENST00000355173.2	37	c.118	CCDS9962.1	14	.	.	.	.	.	.	.	.	.	.	c	36	5.927151	0.97110	.	.	ENSG00000183092	ENST00000355173;ENST00000443071;ENST00000553553;ENST00000556188;ENST00000557378;ENST00000554140	T;T;D;D;D;D	0.84800	1.88;1.88;-1.9;-1.9;-1.9;-1.9	4.59	4.59	0.56863	.	0.000000	0.85682	U	0.000000	D	0.91280	0.7251	M	0.75777	2.31	0.58432	D	0.999999	D	0.67145	0.996	D	0.76071	0.987	D	0.90993	0.4836	10	0.40728	T	0.16	.	14.9651	0.71184	0.0:1.0:0.0:0.0	.	40	Q9BUH8	BEGIN_HUMAN	K	40;40;52;40;40;59	ENSP00000347301:E40K;ENSP00000411124:E40K;ENSP00000451397:E52K;ENSP00000452157:E40K;ENSP00000450722:E40K;ENSP00000451125:E59K	ENSP00000347301:E40K	E	-	1	0	BEGAIN	100082649	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.942000	0.75928	2.105000	0.64084	0.473000	0.43528	GAG	BEGAIN	-	superfamily_Prefoldin		0.697	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BEGAIN	HGNC	protein_coding	OTTHUMT00000414329.1	C	NM_020836		101012896	-1	no_errors	ENST00000355173	ensembl	human	known	70_37	missense	SNP	1.000	T
BEND3	57673	genome.wustl.edu	37	6	107419757	107419757	+	Missense_Mutation	SNP	C	C	T	rs34176768		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:107419757C>T	ENST00000369042.1	-	3	428	c.238G>A	c.(238-240)Gag>Aag	p.E80K	BEND3_ENST00000429433.2_Missense_Mutation_p.E80K			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	80										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GCCCTCACCTCGGGGATCAGC	0.587																																																	0													41.0	38.0	39.0					6																	107419757		2203	4300	6503	SO:0001583	missense	57673			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.238G>A	6.37:g.107419757C>T	ENSP00000358038:p.Glu80Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRH2|Q9HCL9	Missense_Mutation	SNP	pfam_BEN_domain	p.E80K	ENST00000369042.1	37	c.238	CCDS34507.1	6	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033624	0.93575	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.86	5.86	0.93980	.	0.000000	0.51477	D	0.000095	T	0.56156	0.1966	N	0.24115	0.695	0.43211	D	0.995074	D	0.76494	0.999	D	0.68621	0.959	T	0.58978	-0.7540	9	0.49607	T	0.09	-3.4642	16.9016	0.86115	0.0:1.0:0.0:0.0	.	80	Q5T5X7	BEND3_HUMAN	K	80	.	ENSP00000358038:E80K	E	-	1	0	BEND3	107526450	0.997000	0.39634	1.000000	0.80357	0.642000	0.38348	4.470000	0.60175	2.771000	0.95319	0.650000	0.86243	GAG	BEND3	-	NULL		0.587	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	C	NM_020913		107419757	-1	no_errors	ENST00000369042	ensembl	human	known	70_37	missense	SNP	1.000	T
BEND7	222389	genome.wustl.edu	37	10	13534813	13534813	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:13534813G>C	ENST00000396900.2	-	5	634	c.635C>G	c.(634-636)tCa>tGa	p.S212*	BEND7_ENST00000378605.3_Nonsense_Mutation_p.S173*|BEND7_ENST00000396898.2_Nonsense_Mutation_p.S225*|BEND7_ENST00000341083.3_Nonsense_Mutation_p.S160*			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	212						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TCTCTTTCGTGAGACAGCAGT	0.433																																																	0													70.0	73.0	72.0					10																	13534813		2203	4300	6503	SO:0001587	stop_gained	222389			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.635C>G	10.37:g.13534813G>C	ENSP00000380108:p.Ser212*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Nonsense_Mutation	SNP	pfam_BEN_domain	p.S212*	ENST00000396900.2	37	c.635		10	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763008	0.89932	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	.	.	.	5.42	5.42	0.78866	.	0.476731	0.23680	N	0.045623	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-12.3553	19.6596	0.95859	0.0:0.0:1.0:0.0	.	.	.	.	X	212;160;225;173	.	ENSP00000345773:S160X	S	-	2	0	BEND7	13574819	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	6.660000	0.74417	2.708000	0.92522	0.650000	0.86243	TCA	BEND7	-	NULL		0.433	BEND7-202	KNOWN	basic	protein_coding	BEND7	HGNC	protein_coding		G	NM_152751		13534813	-1	no_errors	ENST00000396900	ensembl	human	known	70_37	nonsense	SNP	0.998	C
BEND7	222389	genome.wustl.edu	37	10	13538864	13538864	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:13538864G>A	ENST00000396900.2	-	4	472	c.473C>T	c.(472-474)tCa>tTa	p.S158L	BEND7_ENST00000378605.3_Missense_Mutation_p.S119L|BEND7_ENST00000396898.2_Missense_Mutation_p.S171L|BEND7_ENST00000341083.3_Missense_Mutation_p.S106L			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	158						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TGATCCAGCTGATGAATTCAC	0.383																																																	0													99.0	95.0	96.0					10																	13538864		2203	4300	6503	SO:0001583	missense	222389			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.473C>T	10.37:g.13538864G>A	ENSP00000380108:p.Ser158Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	pfam_BEN_domain	p.S158L	ENST00000396900.2	37	c.473		10	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985620	0.53934	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.49139	0.88;0.88;0.79;0.8	5.23	3.3	0.37823	.	0.467756	0.24393	N	0.038908	T	0.40040	0.1101	L	0.53249	1.67	0.26628	N	0.972525	B;B	0.33171	0.039;0.4	B;B	0.26969	0.023;0.075	T	0.31971	-0.9924	10	0.56958	D	0.05	-2.4138	11.3696	0.49692	0.0697:0.1265:0.8039:0.0	.	171;106	E5RFC0;Q8N7W2-3	.;.	L	158;106;171;119	ENSP00000380108:S158L;ENSP00000345773:S106L;ENSP00000380107:S171L;ENSP00000367868:S119L	ENSP00000345773:S106L	S	-	2	0	BEND7	13578870	1.000000	0.71417	0.009000	0.14445	0.966000	0.64601	6.499000	0.73683	0.654000	0.30846	0.650000	0.86243	TCA	BEND7	-	NULL		0.383	BEND7-202	KNOWN	basic	protein_coding	BEND7	HGNC	protein_coding		G	NM_152751		13538864	-1	no_errors	ENST00000396900	ensembl	human	known	70_37	missense	SNP	0.772	A
BEST3	144453	genome.wustl.edu	37	12	70049417	70049417	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:70049417C>A	ENST00000330891.5	-	10	1503	c.1277G>T	c.(1276-1278)cGa>cTa	p.R426L	BEST3_ENST00000488961.1_Missense_Mutation_p.R213L|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.R320L	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	426					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GAGGTCATCTCGGGGTAAGAA	0.582																																																	0													101.0	108.0	106.0					12																	70049417		2048	4194	6242	SO:0001583	missense	144453			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1277G>T	12.37:g.70049417C>A	ENSP00000332413:p.Arg426Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.R426L	ENST00000330891.5	37	c.1277	CCDS8992.2	12	.	.	.	.	.	.	.	.	.	.	C	8.012	0.757748	0.15846	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97772	-4.18;-4.53;-4.49	4.19	2.31	0.28768	.	0.631105	0.15160	N	0.277225	D	0.91492	0.7314	N	0.08118	0	0.09310	N	0.999995	B;B	0.15141	0.002;0.012	B;B	0.09377	0.003;0.004	D	0.83443	0.0044	10	0.29301	T	0.29	-0.9374	7.8158	0.29258	0.0:0.2078:0.6307:0.1615	.	426;213	Q8N1M1;B5MDI8	BEST3_HUMAN;.	L	213;426;320	ENSP00000433213:R213L;ENSP00000332413:R426L;ENSP00000449548:R320L	ENSP00000332413:R426L	R	-	2	0	BEST3	68335684	0.003000	0.15002	0.003000	0.11579	0.238000	0.25445	1.223000	0.32527	0.224000	0.20940	0.655000	0.94253	CGA	BEST3	-	NULL		0.582	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000313908.2	C	NM_152439		70049417	-1	no_errors	ENST00000330891	ensembl	human	known	70_37	missense	SNP	0.020	A
BFAR	51283	genome.wustl.edu	37	16	14761513	14761513	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:14761513G>C	ENST00000261658.2	+	8	1459	c.1182G>C	c.(1180-1182)tgG>tgC	p.W394C	BFAR_ENST00000426842.2_Missense_Mutation_p.W266C|BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000563971.1_Missense_Mutation_p.W269C	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	394					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AGAGGATGTGGAGCCATTTCT	0.537																																																	0													132.0	130.0	131.0					16																	14761513		2197	4300	6497	SO:0001583	missense	51283			AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.1182G>C	16.37:g.14761513G>C	ENSP00000261658:p.Trp394Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.W394C	ENST00000261658.2	37	c.1182	CCDS10554.1	16	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312593	0.81358	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.51817	3.04;0.69	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.997	T	0.62539	-0.6833	10	0.87932	D	0	.	18.7875	0.91961	0.0:0.0:1.0:0.0	.	266;394;394	B4DUT0;B2R9R6;Q9NZS9	.;.;BFAR_HUMAN	C	394;266	ENSP00000261658:W394C;ENSP00000400634:W266C	ENSP00000261658:W394C	W	+	3	0	BFAR	14669014	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.593000	0.98250	2.673000	0.90976	0.563000	0.77884	TGG	BFAR	-	NULL		0.537	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFAR	HGNC	protein_coding	OTTHUMT00000252088.1	G	NM_016561		14761513	+1	no_errors	ENST00000261658	ensembl	human	known	70_37	missense	SNP	1.000	C
BIN1	274	genome.wustl.edu	37	2	127809887	127809887	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:127809887C>G	ENST00000316724.5	-	15	1726	c.1315G>C	c.(1315-1317)Gag>Cag	p.E439Q	BIN1_ENST00000376113.2_Intron|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000357970.3_Missense_Mutation_p.E396Q|BIN1_ENST00000393041.3_Missense_Mutation_p.E321Q|BIN1_ENST00000346226.3_Missense_Mutation_p.E364Q|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000466111.1_Intron|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000351659.3_Missense_Mutation_p.E352Q	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	439					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AAGGTGCCCTCGGCAGCGCTG	0.706																																																	0													8.0	10.0	10.0					2																	127809887		2164	4270	6434	SO:0001583	missense	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.1315G>C	2.37:g.127809887C>G	ENSP00000316779:p.Glu439Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain	p.E439Q	ENST00000316724.5	37	c.1315	CCDS2138.1	2	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164361	0.38217	.	.	ENSG00000136717	ENST00000357970;ENST00000346226;ENST00000393041;ENST00000351659;ENST00000316724	T;T;T;T;T	0.63913	-0.02;0.53;0.53;0.48;-0.07	4.74	3.86	0.44501	.	0.359391	0.28176	N	0.016313	T	0.56307	0.1976	N	0.22421	0.69	0.80722	D	1	B;B;B;P;B	0.39181	0.0;0.254;0.015;0.663;0.337	B;B;B;P;B	0.47827	0.0;0.079;0.042;0.558;0.1	T	0.57670	-0.7771	10	0.46703	T	0.11	-27.4067	11.7294	0.51728	0.0:0.9127:0.0:0.0873	.	321;364;352;396;439	O00499-4;O00499-2;O00499-3;O00499-5;O00499	.;.;.;.;BIN1_HUMAN	Q	396;364;321;352;439	ENSP00000350654:E396Q;ENSP00000315411:E364Q;ENSP00000376761:E321Q;ENSP00000315388:E352Q;ENSP00000316779:E439Q	ENSP00000316779:E439Q	E	-	1	0	BIN1	127526357	1.000000	0.71417	0.717000	0.30585	0.972000	0.66771	1.909000	0.39917	1.236000	0.43740	0.549000	0.68633	GAG	BIN1	-	NULL		0.706	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN1	HGNC	protein_coding	OTTHUMT00000254298.2	C	NM_139343		127809887	-1	no_errors	ENST00000316724	ensembl	human	known	70_37	missense	SNP	0.969	G
BIRC3	330	genome.wustl.edu	37	11	102195673	102195673	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:102195673C>G	ENST00000263464.3	+	2	3183	c.433C>G	c.(433-435)Cct>Gct	p.P145A	BIRC3_ENST00000532808.1_Missense_Mutation_p.P145A	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	145					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TCCATCAAATCCTGTAAACTC	0.383			T	MALT1	MALT																																			Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0													134.0	142.0	139.0					11																	102195673		2203	4299	6502	SO:0001583	missense	330			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.433C>G	11.37:g.102195673C>G	ENSP00000263464:p.Pro145Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING	p.P145A	ENST00000263464.3	37	c.433	CCDS8315.1	11	.	.	.	.	.	.	.	.	.	.	C	6.276	0.418982	0.11870	.	.	ENSG00000023445	ENST00000263464;ENST00000532808	T;T	0.21361	2.01;2.01	5.4	5.4	0.78164	.	0.045277	0.85682	D	0.000000	T	0.29423	0.0733	M	0.61703	1.905	0.29813	N	0.831495	B	0.22080	0.064	B	0.27170	0.077	T	0.13388	-1.0511	10	0.52906	T	0.07	.	19.3682	0.94473	0.0:1.0:0.0:0.0	.	145	Q13489	BIRC3_HUMAN	A	145	ENSP00000263464:P145A;ENSP00000432907:P145A	ENSP00000263464:P145A	P	+	1	0	BIRC3	101700883	0.022000	0.18835	0.045000	0.18777	0.093000	0.18481	1.993000	0.40747	2.818000	0.97014	0.591000	0.81541	CCT	BIRC3	-	NULL		0.383	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BIRC3	HGNC	protein_coding	OTTHUMT00000394159.1	C	NM_001165		102195673	+1	no_errors	ENST00000263464	ensembl	human	known	70_37	missense	SNP	0.207	G
BIRC6	57448	genome.wustl.edu	37	2	32605237	32605237	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:32605237C>T	ENST00000421745.2	+	3	658	c.524C>T	c.(523-525)tCa>tTa	p.S175L	BIRC6-AS1_ENST00000455572.1_RNA	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	175					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAGCTCTTATCAGCATGTTTA	0.299																																					Pancreas(94;175 1509 16028 18060 45422)												0													31.0	29.0	30.0					2																	32605237		2200	4295	6495	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.524C>T	2.37:g.32605237C>T	ENSP00000393596:p.Ser175Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.S175L	ENST00000421745.2	37	c.524	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743890	0.30865	.	.	ENSG00000115760	ENST00000421745	T	0.74526	-0.85	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000002	T	0.63117	0.2484	N	0.25647	0.755	0.50813	D	0.999897	B	0.34103	0.437	B	0.27608	0.081	T	0.64698	-0.6346	10	0.44086	T	0.13	.	18.5584	0.91092	0.0:1.0:0.0:0.0	.	175	Q9NR09	BIRC6_HUMAN	L	175	ENSP00000393596:S175L	ENSP00000393596:S175L	S	+	2	0	BIRC6	32458741	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	3.774000	0.55341	2.363000	0.80096	0.563000	0.77884	TCA	BIRC6	-	superfamily_WD40_repeat_dom		0.299	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	C	NM_016252		32605237	+1	no_errors	ENST00000421745	ensembl	human	known	70_37	missense	SNP	1.000	T
BIRC6	57448	genome.wustl.edu	37	2	32605301	32605301	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:32605301C>G	ENST00000421745.2	+	3	722	c.588C>G	c.(586-588)ctC>ctG	p.L196L	BIRC6-AS1_ENST00000455572.1_RNA	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	196					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCACACAGCTCAAAGATGGTT	0.328																																					Pancreas(94;175 1509 16028 18060 45422)												0													53.0	52.0	52.0					2																	32605301		2203	4300	6503	SO:0001819	synonymous_variant	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.588C>G	2.37:g.32605301C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULD1	Silent	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.L196	ENST00000421745.2	37	c.588	CCDS33175.2	2																																																																																			BIRC6	-	superfamily_WD40_repeat_dom		0.328	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	C	NM_016252		32605301	+1	no_errors	ENST00000421745	ensembl	human	known	70_37	silent	SNP	0.995	G
BLM	641	genome.wustl.edu	37	15	91295145	91295146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:91295145_91295146insG	ENST00000355112.3	+	4	1046_1047	c.928_929insG	c.(928-930)tctfs	p.S310fs	BLM_ENST00000560509.1_Frame_Shift_Ins_p.S310fs	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	310	Necessary for interaction with SPIDR.|Poly-Ser.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGAAATTATTTCTGCTTCTTCT	0.292			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																														yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	0																																										SO:0001589	frameshift_variant	641	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	Exception_encountered	15.37:g.91295145_91295146insG	ENSP00000347232:p.Ser310fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52M96	Frame_Shift_Ins	INS	pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.S310fs	ENST00000355112.3	37	c.928_929	CCDS10363.1	15																																																																																			BLM	-	NULL		0.292	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLM	HGNC	protein_coding	OTTHUMT00000313495.1	-			91295146	+1	no_errors	ENST00000355112	ensembl	human	known	70_37	frame_shift_ins	INS	0.060:0.064	G
BLM	641	genome.wustl.edu	37	15	91295146	91295146	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:91295146C>G	ENST00000355112.3	+	4	1047	c.929C>G	c.(928-930)tCt>tGt	p.S310C	BLM_ENST00000560509.1_Missense_Mutation_p.S310C	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	310	Necessary for interaction with SPIDR.|Poly-Ser.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GAAATTATTTCTGCTTCTTCT	0.294			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																														yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	0													104.0	104.0	104.0					15																	91295146		2198	4297	6495	SO:0001583	missense	641	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.929C>G	15.37:g.91295146C>G	ENSP00000347232:p.Ser310Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52M96	Missense_Mutation	SNP	pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.S310C	ENST00000355112.3	37	c.929	CCDS10363.1	15	.	.	.	.	.	.	.	.	.	.	C	12.52	1.964125	0.34659	.	.	ENSG00000197299	ENST00000355112	T	0.50001	0.76	5.92	5.0	0.66597	.	0.194939	0.36703	N	0.002459	T	0.61337	0.2339	M	0.71581	2.175	0.09310	N	1	D;D	0.71674	0.998;0.998	P;P	0.60789	0.879;0.879	T	0.55891	-0.8069	10	0.38643	T	0.18	-26.3989	10.9228	0.47174	0.0:0.914:0.0:0.086	.	310;310	B2RAN0;P54132	.;BLM_HUMAN	C	310	ENSP00000347232:S310C	ENSP00000347232:S310C	S	+	2	0	BLM	89096150	0.866000	0.29940	0.011000	0.14972	0.263000	0.26337	2.585000	0.46111	1.491000	0.48482	0.655000	0.94253	TCT	BLM	-	NULL		0.294	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLM	HGNC	protein_coding	OTTHUMT00000313495.1	C			91295146	+1	no_errors	ENST00000355112	ensembl	human	known	70_37	missense	SNP	0.064	G
BLNK	29760	genome.wustl.edu	37	10	97983584	97983584	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:97983584C>G	ENST00000224337.5	-	6	664	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	BLNK_ENST00000427367.2_Missense_Mutation_p.E175Q|BLNK_ENST00000413476.2_Missense_Mutation_p.E175Q|BLNK_ENST00000371176.2_Missense_Mutation_p.E175Q	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	175	Pro-rich.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TACTTTACCTCATCCTCAAGG	0.582																																																	0													116.0	114.0	115.0					10																	97983584		2203	4300	6503	SO:0001583	missense	29760			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.523G>C	10.37:g.97983584C>G	ENSP00000224337:p.Glu175Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O75498|O75499|Q2MD49	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.E175Q	ENST00000224337.5	37	c.523	CCDS7446.1	10	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221457	0.58560	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000428924	.	.	.	6.0	6.0	0.97389	.	0.216928	0.47852	D	0.000203	T	0.74230	0.3689	M	0.77103	2.36	0.50313	D	0.99986	D;D;P;P;P	0.61080	0.989;0.98;0.897;0.877;0.917	P;P;P;P;P	0.55923	0.787;0.711;0.645;0.494;0.529	T	0.69584	-0.5106	9	0.18710	T	0.47	-31.2991	17.4123	0.87489	0.0:1.0:0.0:0.0	.	175;175;175;175;175	Q2MD54;Q2MD49;Q8WV28-2;Q2MD52;Q8WV28	.;.;.;.;BLNK_HUMAN	Q	175	.	ENSP00000224337:E175Q	E	-	1	0	BLNK	97973574	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	4.286000	0.58995	2.849000	0.98006	0.609000	0.83330	GAG	BLNK	-	NULL		0.582	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	HGNC	protein_coding	OTTHUMT00000049593.1	C	NM_013314		97983584	-1	no_errors	ENST00000224337	ensembl	human	known	70_37	missense	SNP	1.000	G
BLVRA	644	genome.wustl.edu	37	7	43843292	43843292	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:43843292G>C	ENST00000402924.1	+	8	641	c.478G>C	c.(478-480)Gag>Cag	p.E160Q	BLVRA_ENST00000265523.4_Missense_Mutation_p.E160Q	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	160				E -> D (in Ref. 2; CAA63635). {ECO:0000305}.	heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						GTTGGAAGAAGAGCGGTTTGG	0.592																																																	0													176.0	182.0	180.0					7																	43843292		2203	4300	6503	SO:0001583	missense	644			BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.478G>C	7.37:g.43843292G>C	ENSP00000385757:p.Glu160Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A	p.E160Q	ENST00000402924.1	37	c.478	CCDS5472.1	7	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872547	0.33069	.	.	ENSG00000106605	ENST00000265523;ENST00000402924	T;T	0.25250	1.81;1.81	4.32	4.32	0.51571	Biliverdin reductase, catalytic (2);	0.631921	0.17003	N	0.190848	T	0.22936	0.0554	L	0.40543	1.245	0.30653	N	0.755191	B	0.27625	0.183	B	0.31337	0.128	T	0.10660	-1.0620	10	0.24483	T	0.36	.	12.6995	0.57024	0.0:0.0:1.0:0.0	.	160	P53004	BIEA_HUMAN	Q	160	ENSP00000265523:E160Q;ENSP00000385757:E160Q	ENSP00000265523:E160Q	E	+	1	0	BLVRA	43809817	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	1.223000	0.32527	2.115000	0.64714	0.561000	0.74099	GAG	BLVRA	-	pfam_Biliverdin_Rdtase_cat,pirsf_Biliverdin_Rdtase_A		0.592	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BLVRA	HGNC	protein_coding	OTTHUMT00000339006.1	G	NM_000712		43843292	+1	no_errors	ENST00000265523	ensembl	human	known	70_37	missense	SNP	1.000	C
BMP10	27302	genome.wustl.edu	37	2	69093120	69093120	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:69093120G>A	ENST00000295379.1	-	2	1076	c.918C>T	c.(916-918)atC>atT	p.I306I		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	306					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						AGTCATAGATGATGTTTGATC	0.502																																																	0													104.0	98.0	100.0					2																	69093120		2203	4300	6503	SO:0001819	synonymous_variant	27302			AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.918C>T	2.37:g.69093120G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53R17|Q6NTE0	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.I306	ENST00000295379.1	37	c.918	CCDS1890.1	2																																																																																			BMP10	-	NULL		0.502	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP10	HGNC	protein_coding	OTTHUMT00000251768.1	G	NM_014482		69093120	-1	no_errors	ENST00000295379	ensembl	human	known	70_37	silent	SNP	1.000	A
BMP15	9210	genome.wustl.edu	37	X	50653862	50653862	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:50653862G>C	ENST00000252677.3	+	1	79	c.79G>C	c.(79-81)Gaa>Caa	p.E27Q		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	27					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCAAATGGCAGAAGGAGGGCA	0.502																																																	0													51.0	44.0	46.0					X																	50653862		2203	4299	6502	SO:0001583	missense	9210			AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.79G>C	X.37:g.50653862G>C	ENSP00000252677:p.Glu27Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.E27Q	ENST00000252677.3	37	c.79	CCDS14334.1	X	.	.	.	.	.	.	.	.	.	.	g	0.014	-1.596181	0.00857	.	.	ENSG00000130385	ENST00000252677	D	0.82255	-1.59	4.57	-1.92	0.07618	.	1.489630	0.03651	N	0.240955	T	0.60183	0.2249	N	0.03115	-0.41	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.50684	-0.8799	10	0.13470	T	0.59	.	4.5564	0.12138	0.343:0.355:0.3021:0.0	.	27	O95972	BMP15_HUMAN	Q	27	ENSP00000252677:E27Q	ENSP00000252677:E27Q	E	+	1	0	BMP15	50670602	0.054000	0.20591	0.000000	0.03702	0.012000	0.07955	0.155000	0.16362	-0.488000	0.06726	-0.296000	0.09543	GAA	BMP15	-	NULL		0.502	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP15	HGNC	protein_coding	OTTHUMT00000056572.1	G	NM_005448		50653862	+1	no_errors	ENST00000252677	ensembl	human	known	70_37	missense	SNP	0.000	C
BMP2K	55589	genome.wustl.edu	37	4	79772146	79772146	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:79772146C>T	ENST00000335016.5	+	7	985	c.819C>T	c.(817-819)atC>atT	p.I273I	BMP2K_ENST00000502871.1_Silent_p.I273I	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AGGTTGCTATCTGTGATGGCA	0.368																																																	0													128.0	112.0	117.0					4																	79772146		2203	4300	6503	SO:0001819	synonymous_variant	55589			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.819C>T	4.37:g.79772146C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I273	ENST00000335016.5	37	c.819	CCDS47083.1	4																																																																																			BMP2K	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.368	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BMP2K	HGNC	protein_coding		C	NM_017593		79772146	+1	no_errors	ENST00000335016	ensembl	human	known	70_37	silent	SNP	1.000	T
BMX	660	genome.wustl.edu	37	X	15555355	15555355	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:15555355G>A	ENST00000357607.2	+	14	1509	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	BMX_ENST00000348343.6_Missense_Mutation_p.D441N|BMX_ENST00000342014.6_Missense_Mutation_p.D441N			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	441	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GGGGCAGTATGATGTTGCTGT	0.473																																																	0													195.0	169.0	178.0					X																	15555355		2203	4300	6503	SO:0001583	missense	660			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1321G>A	X.37:g.15555355G>A	ENSP00000350224:p.Asp441Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIH9|O60564|Q12871	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif	p.D441N	ENST00000357607.2	37	c.1321	CCDS14168.1	X	.	.	.	.	.	.	.	.	.	.	g	18.87	3.716059	0.68844	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.82803	-1.65;-1.65;-1.65	5.56	4.69	0.59074	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.173697	0.40064	N	0.001198	T	0.74741	0.3756	L	0.28556	0.865	0.38138	D	0.938351	P	0.41784	0.762	B	0.43155	0.41	T	0.75288	-0.3370	10	0.48119	T	0.1	.	7.5798	0.27959	0.0856:0.0:0.7489:0.1655	.	441	P51813	BMX_HUMAN	N	441	ENSP00000350224:D441N;ENSP00000308774:D441N;ENSP00000340082:D441N	ENSP00000340082:D441N	D	+	1	0	BMX	15465276	1.000000	0.71417	0.043000	0.18650	0.978000	0.69477	2.869000	0.48444	1.088000	0.41272	0.525000	0.51046	GAT	BMX	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.473	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	BMX	HGNC	protein_coding	OTTHUMT00000055877.1	G	NM_001721		15555355	+1	no_errors	ENST00000342014	ensembl	human	known	70_37	missense	SNP	1.000	A
BNC2	54796	genome.wustl.edu	37	9	16436226	16436226	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:16436226C>T	ENST00000380672.4	-	6	2023	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	BNC2_ENST00000380666.2_Missense_Mutation_p.E656K|BNC2_ENST00000545497.1_Missense_Mutation_p.E561K|BNC2_ENST00000380667.2_Missense_Mutation_p.E589K	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCATCATCTTCATCATCAAAC	0.488																																																	0													139.0	124.0	129.0					9																	16436226		2203	4300	6503	SO:0001583	missense	54796			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1966G>A	9.37:g.16436226C>T	ENSP00000370047:p.Glu656Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E656K	ENST00000380672.4	37	c.1966	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611741	0.28712	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.43294	1.54;0.95;1.56;1.56;1.56;1.54	6.17	6.17	0.99709	.	0.045453	0.85682	D	0.000000	T	0.30008	0.0751	N	0.12182	0.205	0.58432	D	0.999999	B;B;B;B;B;B;B;B;B	0.20052	0.004;0.002;0.015;0.041;0.015;0.002;0.009;0.024;0.009	B;B;B;B;B;B;B;B;B	0.17722	0.019;0.006;0.019;0.019;0.013;0.006;0.008;0.014;0.006	T	0.08868	-1.0701	10	0.20046	T	0.44	-13.7285	20.8794	0.99867	0.0:1.0:0.0:0.0	.	561;589;656;482;656;613;656;561;421	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	K	656;49;613;589;561;482;656;656	ENSP00000370047:E656K;ENSP00000392212:E49K;ENSP00000408370:E613K;ENSP00000370042:E589K;ENSP00000444640:E561K;ENSP00000370041:E656K	ENSP00000370041:E656K	E	-	1	0	BNC2	16426226	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.592000	0.67543	2.941000	0.99782	0.655000	0.94253	GAA	BNC2	-	NULL		0.488	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	C	NM_017637		16436226	-1	no_errors	ENST00000380672	ensembl	human	known	70_37	missense	SNP	1.000	T
BNIP3	664	genome.wustl.edu	37	10	133784238	133784238	+	Missense_Mutation	SNP	G	G	C	rs373166452		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:133784238G>C	ENST00000368636.4	-	5	567	c.443C>G	c.(442-444)aCg>aGg	p.T148R	BNIP3_ENST00000540159.1_Missense_Mutation_p.T148R	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	148					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CATGACGCTCGTGTTCCTCAT	0.527																																																	0													76.0	69.0	72.0					10																	133784238		2203	4297	6500	SO:0001583	missense	664			U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"""BCL2/adenovirus E1B 19kD-interacting protein 3"""			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.443C>G	10.37:g.133784238G>C	ENSP00000357625:p.Thr148Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	O14620|Q96GP0	Missense_Mutation	SNP	pfam_BNIP3	p.T148R	ENST00000368636.4	37	c.443	CCDS7663.1	10	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115977	0.77323	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	4.45	4.45	0.53987	.	0.098661	0.64402	D	0.000001	D	0.83271	0.5218	M	0.83953	2.67	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.86332	0.1699	9	0.72032	D	0.01	-10.1572	17.9813	0.89141	0.0:0.0:1.0:0.0	.	148	Q12983	BNIP3_HUMAN	R	148	.	ENSP00000357625:T148R	T	-	2	0	BNIP3	133634228	1.000000	0.71417	0.964000	0.40570	0.981000	0.71138	5.482000	0.66833	2.423000	0.82170	0.655000	0.94253	ACG	BNIP3	-	pfam_BNIP3		0.527	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNIP3	HGNC	protein_coding	OTTHUMT00000051039.1	G			133784238	-1	no_errors	ENST00000368636	ensembl	human	known	70_37	missense	SNP	1.000	C
BOD1L1	259282	genome.wustl.edu	37	4	13602970	13602970	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:13602970C>T	ENST00000040738.5	-	10	5689	c.5554G>A	c.(5554-5556)Gaa>Aaa	p.E1852K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1852						nucleus (GO:0005634)	DNA binding (GO:0003677)										ACAATGCCTTCATCATCACAA	0.468																																																	0													132.0	130.0	130.0					4																	13602970		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5554G>A	4.37:g.13602970C>T	ENSP00000040738:p.Glu1852Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.E1852K	ENST00000040738.5	37	c.5554	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634205	0.87660	.	.	ENSG00000038219	ENST00000040738	T	0.18657	2.2	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000019	T	0.37705	0.1013	L	0.34521	1.04	0.45676	D	0.998598	D	0.89917	1.0	D	0.80764	0.994	T	0.11060	-1.0603	10	0.51188	T	0.08	-10.6211	18.7444	0.91787	0.0:1.0:0.0:0.0	.	1852	Q8NFC6	BOD1L_HUMAN	K	1852	ENSP00000040738:E1852K	ENSP00000040738:E1852K	E	-	1	0	BOD1L	13212068	1.000000	0.71417	0.963000	0.40424	0.848000	0.48234	5.110000	0.64622	2.422000	0.82143	0.561000	0.74099	GAA	BOD1L1	-	NULL		0.468	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	C	NM_148894		13602970	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	1.000	T
BPTF	2186	genome.wustl.edu	37	17	65850325	65850325	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:65850325C>G	ENST00000321892.4	+	2	944	c.883C>G	c.(883-885)Ctg>Gtg	p.L295V	BPTF_ENST00000306378.6_Missense_Mutation_p.L295V|BPTF_ENST00000335221.5_Missense_Mutation_p.L295V|BPTF_ENST00000424123.3_Missense_Mutation_p.L156V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	295	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAAAGCAGTTCTGCGTGAAGA	0.453																																																	0													176.0	147.0	157.0					17																	65850325		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.883C>G	17.37:g.65850325C>G	ENSP00000315454:p.Leu295Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L295V	ENST00000321892.4	37	c.883		17	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003496	0.35320	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.69040	-0.34;-0.37;-0.32	5.82	3.7	0.42460	DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);	.	.	.	.	T	0.75170	0.3813	L	0.61036	1.89	0.58432	D	0.999995	D;D;P	0.76494	0.999;0.998;0.857	D;D;P	0.87578	0.998;0.99;0.826	T	0.73688	-0.3904	9	0.72032	D	0.01	-5.5732	5.6685	0.17709	0.0:0.4117:0.0:0.5883	.	295;295;295	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	V	200;295;295;295;156	ENSP00000307208:L295V;ENSP00000334351:L295V;ENSP00000315454:L295V	ENSP00000307208:L295V	L	+	1	2	BPTF	63280787	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	2.193000	0.42658	0.626000	0.30322	0.655000	0.94253	CTG	BPTF	-	pfam_DDT_dom,smart_DDT_dom_subgr,pfscan_DDT_dom_superfamily		0.453	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		C	NM_182641, NM_004459		65850325	+1	no_errors	ENST00000321892	ensembl	human	known	70_37	missense	SNP	1.000	G
BRD2	6046	genome.wustl.edu	37	6	32942501	32942501	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:32942501C>T	ENST00000374825.4	+	3	1993	c.292C>T	c.(292-294)Cca>Tca	p.P98S	BRD2_ENST00000374831.4_Missense_Mutation_p.P98S|XXbac-BPG181M17.6_ENST00000580587.1_RNA|BRD2_ENST00000443797.2_5'UTR|BRD2_ENST00000449085.2_Missense_Mutation_p.P51S|BRD2_ENST00000395289.2_Missense_Mutation_p.P98S|BRD2_ENST00000395287.1_Missense_Mutation_p.P98S	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	98	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						GTTCGCATGGCCATTCCGGCA	0.537																																																	0													55.0	49.0	51.0					6																	32942501		2203	4300	6503	SO:0001583	missense	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.292C>T	6.37:g.32942501C>T	ENSP00000363958:p.Pro98Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.P98S	ENST00000374825.4	37	c.292	CCDS4762.1	6	.	.	.	.	.	.	.	.	.	.	C	31	5.098227	0.94197	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000395287;ENST00000449085	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.36	5.36	0.76844	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.47455	D	0.000237	T	0.64327	0.2588	H	0.98525	4.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77998	-0.2376	10	0.66056	D	0.02	-12.7506	16.641	0.85127	0.0:1.0:0.0:0.0	.	98;98	A2AAU0;P25440	.;BRD2_HUMAN	S	98;98;98;98;51	ENSP00000363958:P98S;ENSP00000363964:P98S;ENSP00000378704:P98S;ENSP00000378702:P98S;ENSP00000409145:P51S	ENSP00000363958:P98S	P	+	1	0	BRD2	33050479	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.602000	0.82796	2.784000	0.95788	0.643000	0.83706	CCA	BRD2	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain		0.537	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD2	HGNC	protein_coding	OTTHUMT00000076503.2	C			32942501	+1	no_errors	ENST00000395289	ensembl	human	known	70_37	missense	SNP	1.000	T
BRD4	23476	genome.wustl.edu	37	19	15349236	15349236	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:15349236C>T	ENST00000263377.2	-	20	4262	c.4041G>A	c.(4039-4041)atG>atA	p.M1347I	AC004257.3_ENST00000602793.1_lincRNA	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1347	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCTGGAAATTCATGTCAATGG	0.468			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													111.0	111.0	111.0					19																	15349236		2203	4300	6503	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.4041G>A	19.37:g.15349236C>T	ENSP00000263377:p.Met1347Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.M1347I	ENST00000263377.2	37	c.4041	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	c	13.24	2.177492	0.38413	.	.	ENSG00000141867	ENST00000263377	T	0.54479	0.57	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000014	T	0.65883	0.2734	L	0.49455	1.56	0.80722	D	1	P	0.49447	0.924	P	0.60682	0.878	T	0.69224	-0.5201	10	0.87932	D	0	-21.5421	16.9536	0.86252	0.0:1.0:0.0:0.0	.	1347	O60885	BRD4_HUMAN	I	1347	ENSP00000263377:M1347I	ENSP00000263377:M1347I	M	-	3	0	BRD4	15210236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.481000	0.66826	2.284000	0.76573	0.558000	0.71614	ATG	BRD4	-	NULL		0.468	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	C	NM_058243		15349236	-1	no_errors	ENST00000263377	ensembl	human	known	70_37	missense	SNP	1.000	T
BAIAP2L1	55971	genome.wustl.edu	37	7	97920828	97920828	+	IGR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:97920828C>T	ENST00000005260.8	-	0	3622				BRI3_ENST00000539286.1_Intron|BRI3_ENST00000473967.1_3'UTR|BRI3_ENST00000297290.3_3'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1						filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			AAATGAGATTCATACCATTGT	0.473																																																	0																																										SO:0001628	intergenic_variant	25798			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117		7.37:g.97920828C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	RNA	SNP	-	NULL	ENST00000005260.8	37	NULL	CCDS34687.1	7																																																																																			BRI3	-	-		0.473	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRI3	HGNC	protein_coding	OTTHUMT00000334681.1	C	NM_018842		97920828	+1	no_errors	ENST00000456357	ensembl	human	known	70_37	rna	SNP	1.000	T
BRIP1	83990	genome.wustl.edu	37	17	59760950	59760950	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:59760950C>G	ENST00000259008.2	-	20	3724	c.3457G>C	c.(3457-3459)Gat>Cat	p.D1153H		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1153					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTTCCTCTATCAGTTTCAGCT	0.318			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	0													72.0	71.0	71.0					17																	59760950		2203	4299	6502	SO:0001583	missense	83990			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3457G>C	17.37:g.59760950C>G	ENSP00000259008:p.Asp1153His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.D1153H	ENST00000259008.2	37	c.3457	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372973	0.24857	.	.	ENSG00000136492	ENST00000259008	T	0.78003	-1.14	5.46	3.1	0.35709	.	1.233050	0.05622	N	0.580145	T	0.71913	0.3396	L	0.27053	0.805	0.09310	N	0.999997	P	0.45348	0.856	P	0.46718	0.525	T	0.60994	-0.7152	9	.	.	.	-6.986	8.1326	0.31035	0.0:0.7659:0.0:0.2341	.	1153	Q9BX63	FANCJ_HUMAN	H	1153	ENSP00000259008:D1153H	.	D	-	1	0	BRIP1	57115732	0.014000	0.17966	0.294000	0.24946	0.009000	0.06853	1.140000	0.31516	1.431000	0.47355	0.563000	0.77884	GAT	BRIP1	-	NULL		0.318	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	C	NM_032043		59760950	-1	no_errors	ENST00000259008	ensembl	human	known	70_37	missense	SNP	0.056	G
BRPF1	7862	genome.wustl.edu	37	3	9783090	9783090	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:9783090G>C	ENST00000457855.1	+	4	1832	c.1821G>C	c.(1819-1821)ttG>ttC	p.L607F	BRPF1_ENST00000383829.2_Missense_Mutation_p.L607F|BRPF1_ENST00000433861.2_Missense_Mutation_p.L607F|BRPF1_ENST00000424362.1_Missense_Mutation_p.L607F|BRPF1_ENST00000302054.3_Missense_Mutation_p.L607F			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	607	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TCGTGGAATTGATCCGCAAGC	0.507																																																	0													53.0	61.0	59.0					3																	9783090		2203	4300	6503	SO:0001583	missense	7862			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1821G>C	3.37:g.9783090G>C	ENSP00000410210:p.Leu607Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.L607F	ENST00000457855.1	37	c.1821	CCDS2575.1	3	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267711	0.80469	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.20598	2.08;2.06;3.44;2.06;2.06	5.72	3.82	0.43975	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.44561	0.1299	M	0.87269	2.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.997;0.996	T	0.45542	-0.9254	10	0.87932	D	0	.	3.5592	0.07875	0.1377:0.1398:0.5776:0.1448	.	607;607;607;607	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	F	607	ENSP00000402485:L607F;ENSP00000398863:L607F;ENSP00000373340:L607F;ENSP00000306297:L607F;ENSP00000410210:L607F	ENSP00000306297:L607F	L	+	3	2	BRPF1	9758090	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	1.563000	0.36364	1.397000	0.46682	0.655000	0.94253	TTG	BRPF1	-	superfamily_Bromodomain		0.507	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1	G	NM_001003694		9783090	+1	no_errors	ENST00000383829	ensembl	human	known	70_37	missense	SNP	1.000	C
BSG	682	genome.wustl.edu	37	19	580678	580678	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:580678G>C	ENST00000333511.3	+	5	758	c.688G>C	c.(688-690)Gaa>Caa	p.E230Q	BSG_ENST00000353555.4_Missense_Mutation_p.E114Q|BSG_ENST00000545507.2_Missense_Mutation_p.E21Q|BSG_ENST00000346916.4_Missense_Mutation_p.E50Q	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	230	Ig-like V-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGTCGTCAGAACACATCAA	0.627																																																	0													66.0	65.0	65.0					19																	580678		2202	4300	6502	SO:0001583	missense	682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.688G>C	19.37:g.580678G>C	ENSP00000333769:p.Glu230Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E230Q	ENST00000333511.3	37	c.688	CCDS12033.1	19	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732524	0.69189	.	.	ENSG00000172270	ENST00000346916;ENST00000545507;ENST00000333511;ENST00000353555	T;T;T	0.66099	-0.19;-0.19;-0.19	4.09	3.05	0.35203	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	M	0.67397	2.05	0.47374	D	0.999406	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.994;0.997;0.997;0.997;0.997	T	0.68311	-0.5442	10	0.15499	T	0.54	-23.8271	10.9451	0.47296	0.0924:0.0:0.9076:0.0	.	114;230;114;230;50	P35613-2;B4DNE1;Q54A51;P35613;A6NJW1	.;.;.;BASI_HUMAN;.	Q	50;21;230;114	ENSP00000344707:E50Q;ENSP00000333769:E230Q;ENSP00000343809:E114Q	ENSP00000333769:E230Q	E	+	1	0	BSG	531678	1.000000	0.71417	0.009000	0.14445	0.019000	0.09904	7.543000	0.82106	0.853000	0.35312	0.561000	0.74099	GAA	BSG	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.627	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	G	NM_001728		580678	+1	no_errors	ENST00000333511	ensembl	human	known	70_37	missense	SNP	0.985	C
BSG	682	genome.wustl.edu	37	19	581522	581522	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:581522G>A	ENST00000333511.3	+	6	1070	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	BSG_ENST00000353555.4_Missense_Mutation_p.E218K|BSG_ENST00000545507.2_Missense_Mutation_p.E125K|BSG_ENST00000346916.4_Missense_Mutation_p.E154K	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	334					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCGTGGCTGAGGTGCTGGT	0.667																																																	0													32.0	30.0	31.0					19																	581522		2188	4293	6481	SO:0001583	missense	682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.1000G>A	19.37:g.581522G>A	ENSP00000333769:p.Glu334Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E334K	ENST00000333511.3	37	c.1000	CCDS12033.1	19	.	.	.	.	.	.	.	.	.	.	.	36	5.959553	0.97145	.	.	ENSG00000172270	ENST00000346916;ENST00000545507;ENST00000333511;ENST00000353555	T;T;T	0.66460	2.12;-0.21;2.69	4.15	4.15	0.48705	.	0.000000	0.85682	D	0.000000	D	0.84920	0.5579	M	0.91510	3.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999	D	0.88987	0.3412	10	0.87932	D	0	-48.1982	15.6114	0.76721	0.0:0.0:1.0:0.0	.	218;334;218;334;154	P35613-2;B4DNE1;Q54A51;P35613;A6NJW1	.;.;.;BASI_HUMAN;.	K	154;125;334;218	ENSP00000344707:E154K;ENSP00000333769:E334K;ENSP00000343809:E218K	ENSP00000333769:E334K	E	+	1	0	BSG	532522	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.517000	0.98020	2.157000	0.67596	0.563000	0.77884	GAG	BSG	-	NULL		0.667	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	G	NM_001728		581522	+1	no_errors	ENST00000333511	ensembl	human	known	70_37	missense	SNP	1.000	A
BSN	8927	genome.wustl.edu	37	3	49700629	49700629	+	Silent	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:49700629C>A	ENST00000296452.4	+	7	11152	c.11038C>A	c.(11038-11040)Cgg>Agg	p.R3680R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3680					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCATGAGGCCCGGCCCCACTC	0.667																																																	0													54.0	56.0	55.0					3																	49700629		2202	4300	6502	SO:0001819	synonymous_variant	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.11038C>A	3.37:g.49700629C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O43161|Q7LGH3	Silent	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.R3680	ENST00000296452.4	37	c.11038	CCDS2800.1	3																																																																																			BSN	-	NULL		0.667	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	C	NM_003458		49700629	+1	no_errors	ENST00000296452	ensembl	human	known	70_37	silent	SNP	1.000	A
BST2	684	genome.wustl.edu	37	19	17514607	17514607	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:17514607C>T	ENST00000252593.6	-	4	512	c.440G>A	c.(439-441)aGa>aAa	p.R147K	CTD-2521M24.9_ENST00000500836.2_lincRNA|BST2_ENST00000527220.1_5'UTR	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	147					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of plasmacytoid dendritic cell cytokine production (GO:0002737)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of actin cytoskeleton organization (GO:0032956)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metalloendopeptidase inhibitor activity (GO:0008191)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						GTCCGCGATTCTCACGCTTAA	0.627																																																	0													115.0	109.0	111.0					19																	17514607		2203	4300	6503	SO:0001583	missense	684				CCDS12358.1	19p13.2	2009-10-30				ENSG00000130303		"""CD molecules"""	1119	protein-coding gene	gene with protein product		600534				7607676	Standard	NM_004335		Approved	CD317, tetherin	uc002ngl.3	Q10589		ENST00000252593.6:c.440G>A	19.37:g.17514607C>T	ENSP00000252593:p.Arg147Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4Y4|Q53G07	Missense_Mutation	SNP	superfamily_Prefoldin	p.R147K	ENST00000252593.6	37	c.440	CCDS12358.1	19	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798486	0.31777	.	.	ENSG00000130303	ENST00000416178;ENST00000252593	T	0.55052	0.54	1.45	0.237	0.15475	.	.	.	.	.	T	0.32763	0.0840	L	0.27053	0.805	0.09310	N	1	P	0.37141	0.584	B	0.33339	0.162	T	0.14504	-1.0470	9	0.48119	T	0.1	.	5.2171	0.15348	0.0:0.6264:0.3736:0.0	.	147	Q10589	BST2_HUMAN	K	147	ENSP00000252593:R147K	ENSP00000252593:R147K	R	-	2	0	BST2	17375607	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-2.226000	0.01211	0.150000	0.19136	0.297000	0.19635	AGA	BST2	-	superfamily_Prefoldin		0.627	BST2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BST2	HGNC	protein_coding	OTTHUMT00000387346.1	C	NM_004335		17514607	-1	no_errors	ENST00000252593	ensembl	human	known	70_37	missense	SNP	0.000	T
BTLA	151888	genome.wustl.edu	37	3	112185007	112185007	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:112185007C>T	ENST00000334529.5	-	5	1020	c.818G>A	c.(817-819)aGa>aAa	p.R273K	BTLA_ENST00000383680.4_Missense_Mutation_p.R225K|BTLA_ENST00000474965.1_5'UTR	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	273					immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TTTTACATTTCTTGCCAGTCT	0.413																																																	0													208.0	198.0	202.0					3																	112185007		2203	4300	6503	SO:0001583	missense	151888			AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.818G>A	3.37:g.112185007C>T	ENSP00000333919:p.Arg273Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3B831|Q3HS85|Q6ZNH9	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.R273K	ENST00000334529.5	37	c.818	CCDS33819.1	3	.	.	.	.	.	.	.	.	.	.	C	8.687	0.906470	0.17833	.	.	ENSG00000186265	ENST00000334529;ENST00000383680	T;T	0.32023	1.9;1.47	5.02	-2.99	0.05497	.	0.773279	0.11448	N	0.563008	T	0.16514	0.0397	L	0.54323	1.7	0.09310	N	1	B;P	0.39782	0.007;0.688	B;B	0.31442	0.007;0.13	T	0.18085	-1.0348	10	0.22109	T	0.4	-0.4138	1.035	0.01546	0.1359:0.2611:0.2661:0.3369	.	225;273	Q7Z6A9-2;Q7Z6A9	.;BTLA_HUMAN	K	273;225	ENSP00000333919:R273K;ENSP00000373178:R225K	ENSP00000333919:R273K	R	-	2	0	BTLA	113667697	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.517000	0.06275	-0.215000	0.10063	0.655000	0.94253	AGA	BTLA	-	NULL		0.413	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTLA	HGNC	protein_coding	OTTHUMT00000354101.1	C	NM_181780		112185007	-1	no_errors	ENST00000334529	ensembl	human	known	70_37	missense	SNP	0.000	T
BTN3A2	11118	genome.wustl.edu	37	6	26373523	26373523	+	Splice_Site	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:26373523C>T	ENST00000356386.2	+	7	1124	c.936C>T	c.(934-936)ctC>ctT	p.L312L	BTN3A2_ENST00000396948.1_Splice_Site_p.L312L|BTN3A2_ENST00000508906.2_Splice_Site_p.L270L|BTN3A2_ENST00000377708.2_Splice_Site_p.L312L|BTN3A2_ENST00000527422.1_Splice_Site_p.L312L|BTN3A2_ENST00000396934.3_Splice_Site_p.L289L	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	312					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						AGGAGGAACTCAGTAAGTTAC	0.408																																																	0													158.0	145.0	149.0					6																	26373523		2203	4300	6503	SO:0001630	splice_region_variant	11118			U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.937+1C>T	6.37:g.26373523C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L312	ENST00000356386.2	37	c.936	CCDS4605.1	6																																																																																			BTN3A2	-	NULL		0.408	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A2	HGNC	protein_coding	OTTHUMT00000040113.2	C		Silent	26373523	+1	no_errors	ENST00000356386	ensembl	human	known	70_37	silent	SNP	0.958	T
BTN3A3	10384	genome.wustl.edu	37	6	26444434	26444434	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:26444434G>A	ENST00000244519.2	+	4	578	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	BTN3A3_ENST00000339789.4_Missense_Mutation_p.R70Q|BTN3A3_ENST00000361232.3_Missense_Mutation_p.R70Q	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	112	Ig-like V-type 1.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GCTGCTCTCCGAATACACAAC	0.507																																																	0													40.0	41.0	40.0					6																	26444434		2203	4297	6500	SO:0001583	missense	10384			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.335G>A	6.37:g.26444434G>A	ENSP00000244519:p.Arg112Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWI7|E9PCP5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.R112Q	ENST00000244519.2	37	c.335	CCDS4611.1	6	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893067	0.72524	.	.	ENSG00000111801	ENST00000494393;ENST00000482451;ENST00000244519;ENST00000339789;ENST00000471353;ENST00000361232;ENST00000487627;ENST00000496719;ENST00000490254;ENST00000476281;ENST00000487272	T;T;T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	2.5	1.6	0.23607	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54367	0.1854	L	0.45422	1.42	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.40664	-0.9551	9	0.33141	T	0.24	.	8.4897	0.33093	0.0:0.0:0.7666:0.2333	.	70;112	E9PCP5;O00478	.;BT3A3_HUMAN	Q	112;94;112;70;70;70;70;112;70;70;70	ENSP00000417234:R112Q;ENSP00000419312:R94Q;ENSP00000244519:R112Q;ENSP00000344968:R70Q;ENSP00000417717:R70Q;ENSP00000355238:R70Q;ENSP00000420339:R70Q;ENSP00000420147:R112Q;ENSP00000419736:R70Q;ENSP00000419445:R70Q	ENSP00000244519:R112Q	R	+	2	0	BTN3A3	26552413	0.000000	0.05858	0.000000	0.03702	0.920000	0.55202	-0.010000	0.12743	0.583000	0.29574	0.555000	0.69702	CGA	BTN3A3	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like		0.507	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	BTN3A3	HGNC	protein_coding	OTTHUMT00000040116.2	G	NM_006994		26444434	+1	no_errors	ENST00000244519	ensembl	human	known	70_37	missense	SNP	0.001	A
BZRAP1	9256	genome.wustl.edu	37	17	56393399	56393399	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:56393399C>G	ENST00000343736.4	-	16	2246	c.2083G>C	c.(2083-2085)Gat>Cat	p.D695H	BZRAP1_ENST00000355701.3_Missense_Mutation_p.D695H|BZRAP1_ENST00000268893.6_Missense_Mutation_p.D635H			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	695	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAAAAGCCATCCTCATCCATG	0.498																																																	0													206.0	169.0	182.0					17																	56393399		2203	4300	6503	SO:0001583	missense	9256			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.2083G>C	17.37:g.56393399C>G	ENSP00000345824:p.Asp695His	Somatic		WXS	Illumina HiSeq	Phase_IV	O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.D695H	ENST00000343736.4	37	c.2083	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967724	0.92855	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.57107	0.42;0.42;0.42	5.69	5.69	0.88448	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.80265	0.4591	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.84646	0.0698	10	0.87932	D	0	.	18.7998	0.92011	0.0:1.0:0.0:0.0	.	695;635;695	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	H	695;695;635	ENSP00000347929:D695H;ENSP00000345824:D695H;ENSP00000268893:D635H	ENSP00000268893:D635H	D	-	1	0	BZRAP1	53748398	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.674000	0.91012	0.655000	0.94253	GAT	BZRAP1	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.498	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	C	NM_004758		56393399	-1	no_errors	ENST00000355701	ensembl	human	known	70_37	missense	SNP	1.000	G
CCDC7	79741	genome.wustl.edu	37	10	32872048	32872048	+	5'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:32872048C>G	ENST00000375030.2	+	0	276				C10orf68_ENST00000375028.3_Intron|C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375025.4_5'Flank			Q9H943	CJ068_HUMAN												breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTAGAGAGTTCAAATGAAGTT	0.353																																																	0																																										SO:0001623	5_prime_UTR_variant	79741																														ENST00000375030.2:c.-343C>G	10.37:g.32872048C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZ71|Q08AN7|Q8N7T7	RNA	SNP	-	NULL	ENST00000375030.2	37	NULL		10																																																																																			C10orf68	-	-		0.353	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000313999.2	C			32872048	+1	no_errors	ENST00000572165	ensembl	human	known	70_37	rna	SNP	0.005	G
C10orf82	143379	genome.wustl.edu	37	10	118423748	118423748	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:118423748G>A	ENST00000588184.1	-	5	535	c.496C>T	c.(496-498)Ccg>Tcg	p.P166S	C10orf82_ENST00000369210.3_Intron			Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	166										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		TTTGGAGACGGAGCAGAAGTT	0.353																																																	0													34.0	27.0	29.0					10																	118423748		692	1591	2283	SO:0001583	missense	143379			BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000588184.1:c.496C>T	10.37:g.118423748G>A	ENSP00000465712:p.Pro166Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUM9|D3DRC3	Missense_Mutation	SNP	NULL	p.P166S	ENST00000588184.1	37	c.496		10	.	.	.	.	.	.	.	.	.	.	G	7.513	0.655150	0.14580	.	.	ENSG00000165863	ENST00000388884	.	.	.	4.2	3.28	0.37604	.	0.186197	0.26609	N	0.023434	T	0.29423	0.0733	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.16305	-1.0407	6	0.15952	T	0.53	-10.2234	10.1525	0.42803	0.0:0.2023:0.7977:0.0	.	.	.	.	S	166	.	ENSP00000373536:P166S	P	-	1	0	C10orf82	118413738	0.023000	0.18921	0.019000	0.16419	0.016000	0.09150	0.394000	0.20834	1.337000	0.45525	-0.176000	0.13171	CCG	C10orf82	-	NULL		0.353	C10orf82-004	KNOWN	basic	protein_coding	C10orf82	HGNC	protein_coding	OTTHUMT00000460064.1	G	NM_144661		118423748	-1	no_errors	ENST00000588184	ensembl	human	known	70_37	missense	SNP	0.022	A
C11orf57	55216	genome.wustl.edu	37	11	111953676	111953676	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:111953676G>C	ENST00000280352.9	+	6	1495	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	C11orf57_ENST00000393047.3_Missense_Mutation_p.E288Q|TIMM8B_ENST00000507614.1_5'Flank|C11orf57_ENST00000532163.1_Missense_Mutation_p.E259Q|C11orf57_ENST00000420986.2_Missense_Mutation_p.E287Q	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	287										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AAGGTCTGCTGAGAGCTCAGA	0.413																																																	0													67.0	67.0	67.0					11																	111953676		2196	4296	6492	SO:0001583	missense	55216			BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.859G>C	11.37:g.111953676G>C	ENSP00000339076:p.Glu287Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Missense_Mutation	SNP	NULL	p.E288Q	ENST00000280352.9	37	c.862	CCDS41715.1	11	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186255	0.78789	.	.	ENSG00000150776	ENST00000420986;ENST00000532163;ENST00000280352;ENST00000393047;ENST00000393048	.	.	.	5.3	5.3	0.74995	.	0.354060	0.24463	N	0.038313	T	0.62672	0.2447	L	0.27053	0.805	0.45366	D	0.998356	P;D	0.63880	0.949;0.993	P;P	0.57776	0.677;0.827	T	0.64833	-0.6314	9	0.56958	D	0.05	-5.9447	19.144	0.93457	0.0:0.0:1.0:0.0	.	288;287	Q6ZUT1-2;Q6ZUT1	.;CK057_HUMAN	Q	287;259;287;288;142	.	ENSP00000339076:E287Q	E	+	1	0	C11orf57	111458886	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.986000	0.76200	2.745000	0.94114	0.655000	0.94253	GAG	C11orf57	-	NULL		0.413	C11orf57-001	KNOWN	basic|CCDS	protein_coding	C11orf57	HGNC	protein_coding	OTTHUMT00000316852.1	G	NM_018195		111953676	+1	no_errors	ENST00000393047	ensembl	human	known	70_37	missense	SNP	1.000	C
C11orf63	79864	genome.wustl.edu	37	11	122756799	122756799	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:122756799G>A	ENST00000531316.1	+	1	334	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	C11orf63_ENST00000307257.6_Missense_Mutation_p.R81Q|C11orf63_ENST00000227349.2_Missense_Mutation_p.R81Q			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	81					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAAAGCCCTCGATGGGGAAGC	0.547																																																	0													109.0	110.0	110.0					11																	122756799		2202	4299	6501	SO:0001583	missense	79864			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.242G>A	11.37:g.122756799G>A	ENSP00000431669:p.Arg81Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	NULL	p.R81Q	ENST00000531316.1	37	c.242	CCDS8438.1	11	.	.	.	.	.	.	.	.	.	.	G	1.246	-0.620090	0.03636	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.42513	0.97;0.97	4.46	-8.93	0.00771	.	4.986800	0.00649	N	0.000541	T	0.12518	0.0304	N	0.02011	-0.69	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.04013	0.001;0.001	T	0.19063	-1.0317	10	0.12766	T	0.61	4.8637	2.6299	0.04941	0.5313:0.2045:0.1213:0.1429	.	81;81	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	Q	81	ENSP00000227349:R81Q;ENSP00000431669:R81Q	ENSP00000227349:R81Q	R	+	2	0	C11orf63	122262009	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-1.552000	0.02176	-2.586000	0.00459	0.411000	0.27672	CGA	C11orf63	-	NULL		0.547	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	HGNC	protein_coding	OTTHUMT00000387511.1	G	NM_024806		122756799	+1	no_errors	ENST00000227349	ensembl	human	known	70_37	missense	SNP	0.000	A
C12orf60	144608	genome.wustl.edu	37	12	14975933	14975933	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:14975933C>T	ENST00000330828.2	+	2	268	c.64C>T	c.(64-66)Cat>Tat	p.H22Y	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	22										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						GTTCTTCTTTCATGTACAAGA	0.363																																																	0													89.0	87.0	88.0					12																	14975933		2203	4300	6503	SO:0001583	missense	144608			BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.64C>T	12.37:g.14975933C>T	ENSP00000331691:p.His22Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1M7|Q5XKK8|Q8IXY2	Missense_Mutation	SNP	NULL	p.H22Y	ENST00000330828.2	37	c.64	CCDS8667.1	12	.	.	.	.	.	.	.	.	.	.	C	1.807	-0.475517	0.04414	.	.	ENSG00000182993	ENST00000330828	T	0.16457	2.34	5.19	-0.0967	0.13635	.	0.810628	0.10738	N	0.639810	T	0.10680	0.0261	L	0.34521	1.04	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.32455	-0.9906	10	0.35671	T	0.21	1.9425	3.5037	0.07683	0.1736:0.4296:0.0:0.3968	.	22	Q5U649	CL060_HUMAN	Y	22	ENSP00000331691:H22Y	ENSP00000331691:H22Y	H	+	1	0	C12orf60	14867200	0.004000	0.15560	0.137000	0.22149	0.409000	0.31022	-0.572000	0.05881	0.312000	0.23038	0.561000	0.74099	CAT	C12orf60	-	NULL		0.363	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf60	HGNC	protein_coding	OTTHUMT00000394735.1	C	NM_175874		14975933	+1	no_errors	ENST00000330828	ensembl	human	known	70_37	missense	SNP	0.008	T
C12orf56	115749	genome.wustl.edu	37	12	64712509	64712509	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:64712509C>G	ENST00000543942.2	-	4	1366	c.740G>C	c.(739-741)gGa>gCa	p.G247A	C12orf56_ENST00000333722.5_Intron|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	247										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		AAACTCATTTCCATTCCCATT	0.403																																																	0													129.0	106.0	113.0					12																	64712509		692	1591	2283	SO:0001583	missense	115749				CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.740G>C	12.37:g.64712509C>G	ENSP00000446101:p.Gly247Ala	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.G247A	ENST00000543942.2	37	c.740		12	.	.	.	.	.	.	.	.	.	.	C	1.959	-0.439445	0.04636	.	.	ENSG00000185306	ENST00000543942;ENST00000433716	.	.	.	4.87	0.177	0.15054	.	.	.	.	.	T	0.36468	0.0968	L	0.51422	1.61	0.09310	N	0.999992	.	.	.	.	.	.	T	0.30679	-0.9970	5	.	.	.	.	4.3439	0.11124	0.0:0.4668:0.2458:0.2875	.	.	.	.	A	247;249	.	.	G	-	2	0	C12orf56	62998776	0.022000	0.18835	0.123000	0.21794	0.017000	0.09413	-0.160000	0.10041	-0.062000	0.13088	-0.251000	0.11542	GGA	C12orf56	-	NULL		0.403	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf56	HGNC	protein_coding	OTTHUMT00000401058.2	C	NM_001099676		64712509	-1	no_errors	ENST00000543942	ensembl	human	putative	70_37	missense	SNP	0.181	G
CFAP54	144535	genome.wustl.edu	37	12	97147670	97147670	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:97147670C>G	ENST00000524981.4	+	56	7857	c.7834C>G	c.(7834-7836)Cag>Gag	p.Q2612E				Q96N23	CL055_HUMAN		0																	AATCCTTTTTCAGAAAGGTAA	0.403																																																	0													94.0	87.0	89.0					12																	97147670		2203	4300	6503	SO:0001583	missense	144535																														ENST00000524981.4:c.7834C>G	12.37:g.97147670C>G	ENSP00000431759:p.Gln2612Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.Q1037E	ENST00000524981.4	37	c.3109		12	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869135	0.32977	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.09	4.14	0.48551	.	0.424311	0.23369	N	0.048932	T	0.40546	0.1121	L	0.38531	1.155	0.27749	N	0.944233	B	0.23891	0.093	B	0.23574	0.047	T	0.45673	-0.9245	9	0.66056	D	0.02	-2.418	15.2611	0.73625	0.0:0.8598:0.1402:0.0	.	1037	Q6ZTY8	CL063_HUMAN	E	2612;1037	.	ENSP00000345466:Q1037E	Q	+	1	0	C12orf63	95671801	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.537000	0.45702	2.530000	0.85305	0.462000	0.41574	CAG	C12orf55	-	NULL		0.403	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	C			97147670	+1	no_errors	ENST00000342887	ensembl	human	known	70_37	missense	SNP	1.000	G
HEATR4	399671	genome.wustl.edu	37	14	73957911	73957911	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:73957911G>C	ENST00000553558.1	-	17	3166				C14orf169_ENST00000531973.1_RNA|HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GCGAGAACTCGGAGGAATCGA	0.677																																																	0													29.0	32.0	31.0					14																	73957911		1957	4133	6090	SO:0001627	intron_variant	79697			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2844+1858C>G	14.37:g.73957911G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7V9|E9KL41	RNA	SNP	-	NULL	ENST00000553558.1	37	NULL	CCDS9815.2	14																																																																																			C14orf169	-	-		0.677	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf169	HGNC	protein_coding	OTTHUMT00000414422.2	G	NM_203309		73957911	+1	no_errors	ENST00000531973	ensembl	human	known	70_37	rna	SNP	1.000	C
C14orf80	283643	genome.wustl.edu	37	14	105963729	105963729	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:105963729G>A	ENST00000392523.4	+	7	1048	c.927G>A	c.(925-927)ctG>ctA	p.L309L	C14orf80_ENST00000392527.1_Silent_p.L166L|C14orf80_ENST00000450383.1_Silent_p.L62L|C14orf80_ENST00000551054.1_3'UTR|C14orf80_ENST00000392522.3_Silent_p.L240L|C14orf80_ENST00000329886.7_Silent_p.L168L|C14orf80_ENST00000334656.7_Silent_p.L166L|C14orf80_ENST00000354560.6_Silent_p.L207L			Q86SX3	CN080_HUMAN	chromosome 14 open reading frame 80	309										central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		ACCAGCGCCTGGAGGCTGTCC	0.662																																																	0													44.0	42.0	43.0					14																	105963729		2152	4250	6402	SO:0001819	synonymous_variant	283643				CCDS45180.1, CCDS45181.1, CCDS45182.1, CCDS55955.1	14q32.33	2012-09-25			ENSG00000185347	ENSG00000185347			20127	protein-coding gene	gene with protein product							Standard	NM_001134875		Approved		uc001yrn.3	Q86SX3	OTTHUMG00000170426	ENST00000392523.4:c.927G>A	14.37:g.105963729G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDG3|E9PAQ4|Q86TT3|Q86TT4|Q86TT5|Q96B41|Q9H7H4	Silent	SNP	NULL	p.L309	ENST00000392523.4	37	c.927		14																																																																																			C14orf80	-	NULL		0.662	C14orf80-017	KNOWN	basic	protein_coding	C14orf80	HGNC	protein_coding	OTTHUMT00000409090.1	G	NM_001134875		105963729	+1	no_errors	ENST00000392523	ensembl	human	known	70_37	silent	SNP	0.942	A
C15orf52	388115	genome.wustl.edu	37	15	40627575	40627575	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:40627575C>G	ENST00000559313.1	-	11	1404	c.1389G>C	c.(1387-1389)tgG>tgC	p.W463C	C15orf52_ENST00000397536.2_Missense_Mutation_p.W253C	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	463							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GGTGATTGCTCCACCCCAGGG	0.657																																																	0													24.0	25.0	25.0					15																	40627575		2201	4298	6499	SO:0001583	missense	388115			AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.1389G>C	15.37:g.40627575C>G	ENSP00000453969:p.Trp463Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	NULL	p.W463C	ENST00000559313.1	37	c.1389	CCDS10055.2	15	.	.	.	.	.	.	.	.	.	.	C	0.086	-1.175083	0.01646	.	.	ENSG00000188549	ENST00000382688;ENST00000397536	.	.	.	5.3	-2.18	0.07037	.	1.236440	0.05862	N	0.623113	T	0.26810	0.0656	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.12013	0.005;0.001	B;B	0.12156	0.007;0.003	T	0.27191	-1.0081	9	0.36615	T	0.2	0.5254	3.5835	0.07962	0.2634:0.2409:0.4092:0.0865	.	253;463	Q6ZUT6-2;Q6ZUT6	.;CO052_HUMAN	C	463;253	.	ENSP00000372135:W463C	W	-	3	0	C15orf52	38414867	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	-0.880000	0.04183	0.169000	0.19679	0.563000	0.77884	TGG	C15orf52	-	NULL		0.657	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf52	HGNC	protein_coding	OTTHUMT00000319567.2	C	NM_207380		40627575	-1	no_errors	ENST00000559313	ensembl	human	known	70_37	missense	SNP	0.000	G
C15orf52	388115	genome.wustl.edu	37	15	40627604	40627604	+	Missense_Mutation	SNP	C	C	G	rs201969716		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:40627604C>G	ENST00000559313.1	-	11	1375	c.1360G>C	c.(1360-1362)Gag>Cag	p.E454Q	C15orf52_ENST00000397536.2_Missense_Mutation_p.E244Q	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	454							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TTAGAGCCCTCTGGCCAAGAC	0.662																																																	0													17.0	18.0	18.0					15																	40627604		2202	4297	6499	SO:0001583	missense	388115			AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.1360G>C	15.37:g.40627604C>G	ENSP00000453969:p.Glu454Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	NULL	p.E454Q	ENST00000559313.1	37	c.1360	CCDS10055.2	15	.	.	.	.	.	.	.	.	.	.	C	8.826	0.938713	0.18206	.	.	ENSG00000188549	ENST00000382688;ENST00000397536	.	.	.	5.3	1.25	0.21368	.	0.393157	0.21567	N	0.072476	T	0.12817	0.0311	N	0.14661	0.345	0.09310	N	1	P;B	0.41265	0.744;0.255	B;B	0.32864	0.154;0.109	T	0.14783	-1.0460	9	0.36615	T	0.2	-0.6799	6.6613	0.23016	0.0:0.5997:0.0:0.4003	.	244;454	Q6ZUT6-2;Q6ZUT6	.;CO052_HUMAN	Q	454;244	.	ENSP00000372135:E454Q	E	-	1	0	C15orf52	38414896	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	0.422000	0.21296	0.215000	0.20761	-0.251000	0.11542	GAG	C15orf52	-	NULL		0.662	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf52	HGNC	protein_coding	OTTHUMT00000319567.2	C	NM_207380		40627604	-1	no_errors	ENST00000559313	ensembl	human	known	70_37	missense	SNP	0.000	G
C16orf13	84326	genome.wustl.edu	37	16	684553	684553	+	3'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:684553G>C	ENST00000301686.8	-	0	670				C16orf13_ENST00000397666.2_Silent_p.L197L|C16orf13_ENST00000397665.2_Silent_p.L177L|C16orf13_ENST00000338401.4_3'UTR|C16orf13_ENST00000397664.4_3'UTR	NM_032366.3	NP_115742.3	Q96S19	CP013_HUMAN	chromosome 16 open reading frame 13											large_intestine(1)	1		Hepatocellular(780;0.00335)				GTGCCTCACAGAGCCTCCGGC	0.627																																																	0													115.0	136.0	129.0					16																	684553		2200	4300	6500	SO:0001624	3_prime_UTR_variant	84326				CCDS32352.1, CCDS42090.1, CCDS42091.1, CCDS45367.1, CCDS45368.1, CCDS73798.1	16p13.3	2012-10-09			ENSG00000130731	ENSG00000130731			14141	protein-coding gene	gene with protein product							Standard	NM_001040160		Approved	MGC13114	uc002chw.1	Q96S19	OTTHUMG00000047855	ENST00000301686.8:c.*44C>G	16.37:g.684553G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTR1|A8MWJ8|A8MZA1|B4DG95|B4DIJ3|D6REA6|F6TF62|F6VM53|Q96IW1|Q96MD6	Silent	SNP	pfam_DUF938	p.L197	ENST00000301686.8	37	c.591	CCDS45368.1	16																																																																																			C16orf13	-	NULL		0.627	C16orf13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf13	HGNC	protein_coding	OTTHUMT00000109081.2	G	NM_001040160		684553	-1	no_errors	ENST00000397666	ensembl	human	known	70_37	silent	SNP	0.000	C
C16orf95	100506581	genome.wustl.edu	37	16	87336584	87336584	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:87336584C>T	ENST00000253461.4	-	0	788				C16orf95_ENST00000562840.1_5'Flank|C16orf95_ENST00000567970.1_3'UTR|RP11-178L8.4_ENST00000568879.1_3'UTR	NM_001195125.1|NM_001256917.1	NP_001182054.1|NP_001243846.1	Q9H693	CP095_HUMAN	chromosome 16 open reading frame 95																		ACAGACGCCTCCTGATTGGTG	0.453																																																	0																																										SO:0001624	3_prime_UTR_variant	100506581				CCDS54049.1, CCDS58491.1, CCDS73921.1	16q24.2	2012-10-10			ENSG00000260456	ENSG00000260456			40033	protein-coding gene	gene with protein product							Standard	NM_001195124		Approved		uc021tmh.1	Q9H693	OTTHUMG00000175680	ENST00000253461.4:c.*138G>A	16.37:g.87336584C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000253461.4	37	NULL	CCDS54049.1	16																																																																																			C16orf95	-	-		0.453	C16orf95-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C16orf95	HGNC	protein_coding	OTTHUMT00000430790.1	C	NM_001195124		87336584	-1	no_errors	ENST00000564821	ensembl	human	known	70_37	rna	SNP	0.030	T
C1QTNF6	114904	genome.wustl.edu	37	22	37581393	37581393	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:37581393C>G	ENST00000337843.2	-	2	229	c.154G>C	c.(154-156)Gtg>Ctg	p.V52L	C1QTNF6_ENST00000470655.1_5'UTR|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.V52L|C1QTNF6_ENST00000255836.6_5'Flank	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	33					protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						CCGCTGGCCACAGCTCTGTCA	0.647																																																	0													34.0	34.0	34.0					22																	37581393		2203	4300	6503	SO:0001583	missense	114904			AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.154G>C	22.37:g.37581393C>G	ENSP00000338812:p.Val52Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.V52L	ENST00000337843.2	37	c.154	CCDS13943.1	22	.	.	.	.	.	.	.	.	.	.	C	5.689	0.311656	0.10789	.	.	ENSG00000133466	ENST00000397110;ENST00000337843	T;T	0.37411	1.2;1.2	3.76	2.74	0.32292	.	0.635159	0.13782	N	0.363142	T	0.23611	0.0571	L	0.36672	1.1	0.20563	N	0.999883	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.0	T	0.07462	-1.0771	10	0.25751	T	0.34	.	4.9179	0.13854	0.0:0.7701:0.0:0.2299	.	52;33	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	L	52	ENSP00000380299:V52L;ENSP00000338812:V52L	ENSP00000338812:V52L	V	-	1	0	C1QTNF6	35911339	0.042000	0.20092	0.046000	0.18839	0.127000	0.20565	0.976000	0.29462	2.039000	0.60335	0.491000	0.48974	GTG	C1QTNF6	-	NULL		0.647	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF6	HGNC	protein_coding	OTTHUMT00000318807.1	C	NM_182486		37581393	-1	no_errors	ENST00000337843	ensembl	human	known	70_37	missense	SNP	0.013	G
PERM1	84808	genome.wustl.edu	37	1	915302	915302	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:915302C>T	ENST00000341290.2	-	3	801	c.766G>A	c.(766-768)Gac>Aac	p.D256N	C1orf170_ENST00000433179.2_Missense_Mutation_p.D276N			Q5SV97	PERM1_HUMAN		370					regulation of transcription, DNA-templated (GO:0006355)|response to muscle activity (GO:0014850)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											ACAGCCGTGTCAGATTGCGGC	0.582																																																	0																																										SO:0001583	missense	84808																														ENST00000341290.2:c.766G>A	1.37:g.915302C>T	ENSP00000343864:p.Asp256Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZVZ7|Q9BRF2|S5G239	Missense_Mutation	SNP	NULL	p.D276N	ENST00000341290.2	37	c.826		1	.	.	.	.	.	.	.	.	.	.	.	18.74	3.688799	0.68271	.	.	ENSG00000187642	ENST00000433179;ENST00000341290	T;T	0.52057	0.68;0.68	4.09	4.09	0.47781	.	0.479133	0.16875	N	0.195945	T	0.55401	0.1918	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.66351	0.943	T	0.45687	-0.9244	9	0.13470	T	0.59	-0.89	13.8947	0.63764	0.0:1.0:0.0:0.0	.	276	Q5SV97	CA170_HUMAN	N	276;256	ENSP00000414022:D276N;ENSP00000343864:D256N	ENSP00000343864:D256N	D	-	1	0	C1orf170	905165	0.000000	0.05858	0.014000	0.15608	0.015000	0.08874	-0.613000	0.05610	2.118000	0.64928	0.299000	0.19835	GAC	C1orf170	-	NULL		0.582	C1orf170-001	PUTATIVE	basic|appris_candidate	protein_coding	C1orf170	HGNC	protein_coding	OTTHUMT00000097943.2	C			915302	-1	no_errors	ENST00000433179	ensembl	human	known	70_37	missense	SNP	0.087	T
C1orf159	54991	genome.wustl.edu	37	1	1018229	1018229	+	3'UTR	SNP	C	C	T	rs375991195		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:1018229C>T	ENST00000379339.1	-	0	1397				C1orf159_ENST00000379320.1_3'UTR|C1orf159_ENST00000448924.1_3'UTR|C1orf159_ENST00000421241.2_3'UTR|C1orf159_ENST00000482816.1_5'Flank|C1orf159_ENST00000379319.1_3'UTR|C1orf159_ENST00000294576.5_3'UTR			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159							integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GGTCGGCCTCCGGGTCCCTGC	0.706																																																	0													20.0	21.0	21.0					1																	1018229		1326	2303	3629	SO:0001624	3_prime_UTR_variant	54991			AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.*44G>A	1.37:g.1018229C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	RNA	SNP	-	NULL	ENST00000379339.1	37	NULL		1																																																																																			C1orf159	-	-		0.706	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	C1orf159	HGNC	protein_coding	OTTHUMT00000001851.2	C	NM_017891		1018229	-1	no_errors	ENST00000464905	ensembl	human	known	70_37	rna	SNP	0.000	T
CFAP74	85452	genome.wustl.edu	37	1	1896478	1896478	+	IGR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:1896478C>T								TMEM52 (45766 upstream) : C1orf222 (23084 downstream)																							CACGGGCTTTCGGTCCACGTC	0.692																																																	0													34.0	36.0	35.0					1																	1896478		2009	4177	6186	SO:0001628	intergenic_variant	85452																															1.37:g.1896478C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R475Q		37	c.1424		1	.	.	.	.	.	.	.	.	.	.	c	6.459	0.452789	0.12283	.	.	ENSG00000142609	ENST00000270720	.	.	.	4.48	-0.886	0.10590	.	0.617089	0.13721	N	0.367379	T	0.13798	0.0334	L	0.40543	1.245	0.09310	N	1	P;P	0.45283	0.855;0.535	B;B	0.30029	0.11;0.049	T	0.30297	-0.9983	9	0.13853	T	0.58	-12.7416	5.0088	0.14302	0.1396:0.4206:0.0:0.4398	.	475;475	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	Q	475	.	ENSP00000270720:R475Q	R	-	2	0	C1orf222	1886338	0.000000	0.05858	0.251000	0.24312	0.057000	0.15508	-0.827000	0.04424	-0.115000	0.11915	-0.261000	0.10672	CGA	C1orf222	-	NULL	0	0.692					C1orf222	HGNC			C			1896478	-1	no_errors	ENST00000270720	ensembl	human	known	70_37	missense	SNP	0.018	T
CFAP74	85452	genome.wustl.edu	37	1	1916830	1916830	+	IGR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:1916830C>G	ENST00000434971.2	-	0	339							Q69YW0	CA222_HUMAN												breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCACTCGCTCTCCTTCAGCA	0.657																																																	0													65.0	71.0	69.0					1																	1916830		2115	4218	6333	SO:0001628	intergenic_variant	85452																															1.37:g.1916830C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E165D	ENST00000434971.2	37	c.495		1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579282	0.28180	.	.	ENSG00000142609	ENST00000270720	.	.	.	3.73	-0.759	0.11045	.	0.937063	0.08771	N	0.896224	T	0.25531	0.0621	N	0.25647	0.755	0.19775	N	0.999959	B;B	0.17465	0.022;0.011	B;B	0.15484	0.013;0.007	T	0.22556	-1.0213	9	0.29301	T	0.29	-6.1296	4.9163	0.13847	0.0:0.4643:0.3279:0.2078	.	165;165	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	D	165	.	ENSP00000270720:E165D	E	-	3	2	C1orf222	1906690	0.001000	0.12720	0.001000	0.08648	0.097000	0.18754	-0.326000	0.07965	-0.262000	0.09392	0.313000	0.20887	GAG	C1orf222	-	NULL		0.657	C1orf222-201	KNOWN	basic	protein_coding	C1orf222	HGNC	protein_coding		C			1916830	-1	no_errors	ENST00000270720	ensembl	human	known	70_37	missense	SNP	0.044	G
SMIM12	113444	genome.wustl.edu	37	1	35321430	35321430	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:35321430G>C	ENST00000521580.2	-	2	293	c.149C>G	c.(148-150)tCa>tGa	p.S50*	SMIM12_ENST00000423898.1_Nonsense_Mutation_p.S50*|SMIM12_ENST00000456842.1_Nonsense_Mutation_p.S50*|SMIM12_ENST00000446026.1_Nonsense_Mutation_p.S50*|SMIM12_ENST00000417239.1_Nonsense_Mutation_p.S50*	NM_001164824.1|NM_001164825.1|NM_138428.5	NP_001158296.1|NP_001158297.1|NP_612437.3	Q96EX1	SIM12_HUMAN	small integral membrane protein 12	50						integral component of membrane (GO:0016021)											CCGGCGCTCTGAGATGCTCTT	0.577																																																	0													95.0	89.0	91.0					1																	35321430		692	1591	2283	SO:0001587	stop_gained	113444				CCDS53295.1	1p34.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000163866	ENSG00000163866			25154	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 212"""	C1orf212		12477932	Standard	NM_138428		Approved	FLJ90372	uc001byb.3	Q96EX1	OTTHUMG00000004375	ENST00000521580.2:c.149C>G	1.37:g.35321430G>C	ENSP00000428585:p.Ser50*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPR5|Q49AP7|Q52LP9|Q8NCB4	Nonsense_Mutation	SNP	NULL	p.S50*	ENST00000521580.2	37	c.149	CCDS53295.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763851	0.89932	.	.	ENSG00000163866	ENST00000521580;ENST00000446026;ENST00000456842;ENST00000423898;ENST00000417239	.	.	.	5.88	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	9.3369	0.38056	0.2257:0.0:0.7743:0.0	.	.	.	.	X	50	.	ENSP00000428541:S50X	S	-	2	0	C1orf212	35094017	0.999000	0.42202	0.925000	0.36789	0.997000	0.91878	3.536000	0.53582	1.468000	0.48064	0.591000	0.81541	TCA	C1orf212	-	NULL		0.577	SMIM12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf212	HGNC	protein_coding	OTTHUMT00000012715.3	G	NM_138428		35321430	-1	no_errors	ENST00000417239	ensembl	human	known	70_37	nonsense	SNP	0.910	C
C1orf228	339541	genome.wustl.edu	37	1	45163817	45163817	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:45163817G>A	ENST00000458657.2	+	5	665	c.358G>A	c.(358-360)Gag>Aag	p.E120K	C1orf228_ENST00000535358.1_Missense_Mutation_p.E120K|C1orf228_ENST00000444751.1_Intron			Q6PIY5	CA228_HUMAN	chromosome 1 open reading frame 228	120										central_nervous_system(1)	1						GATCAAGGAGGAGGCCAAGAA	0.448																																																	0													160.0	134.0	142.0					1																	45163817		692	1591	2283	SO:0001583	missense	339541			AL122004, AY254217, BC026115	CCDS53311.1	1p34.1	2011-02-22	2009-03-17	2009-03-17	ENSG00000198520	ENSG00000198520			34345	protein-coding gene	gene with protein product			"""non-protein coding RNA 82"""	NCRNA00082		12477932	Standard	NM_001145636		Approved	MGC33556, p40	uc001cmf.2	Q6PIY5	OTTHUMG00000007834	ENST00000458657.2:c.358G>A	1.37:g.45163817G>A	ENSP00000420716:p.Glu120Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1KXE5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E120K	ENST00000458657.2	37	c.358	CCDS53311.1	1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050775	0.36181	.	.	ENSG00000198520	ENST00000458657;ENST00000441519;ENST00000535358;ENST00000445071	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.64	3.78	0.43462	Armadillo-like helical (1);Armadillo-type fold (1);	0.227987	0.43919	N	0.000518	T	0.50786	0.1636	L	0.50333	1.59	0.41937	D	0.99059	D	0.61697	0.99	P	0.56088	0.791	T	0.44682	-0.9312	10	0.33940	T	0.23	-17.0855	7.5814	0.27967	0.1453:0.1353:0.7194:0.0	.	120	Q6PIY5	CA228_HUMAN	K	120	ENSP00000420716:E120K;ENSP00000420664:E120K;ENSP00000440524:E120K;ENSP00000417998:E120K	ENSP00000420664:E120K	E	+	1	0	C1orf228	44936404	1.000000	0.71417	0.991000	0.47740	0.156000	0.22039	4.065000	0.57513	0.751000	0.32900	-0.291000	0.09656	GAG	C1orf228	-	superfamily_ARM-type_fold		0.448	C1orf228-013	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf228	HGNC	protein_coding	OTTHUMT00000023125.2	G	NM_001145636		45163817	+1	no_errors	ENST00000458657	ensembl	human	known	70_37	missense	SNP	0.988	A
C1orf116	79098	genome.wustl.edu	37	1	207200937	207200937	+	Missense_Mutation	SNP	C	C	T	rs375834919	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:207200937C>T	ENST00000359470.5	-	2	256	c.7G>A	c.(7-9)Gag>Aag	p.E3K	C1orf116_ENST00000461135.2_Intron	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	3						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AGCTCCCTCTCGGGCATCACC	0.612													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18459	0.0		0.0	False		,,,				2504	0.0																0								C	LYS/GLU,	0,4406		0,0,2203	57.0	53.0	55.0		7,	3.6	1.0	1		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	C1orf116	NM_023938.5,NM_001083924.1	56,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,	3/602,	207200937	1,13005	2203	4300	6503	SO:0001583	missense	79098				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.7G>A	1.37:g.207200937C>T	ENSP00000352447:p.Glu3Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JV41|Q658X3	Missense_Mutation	SNP	NULL	p.E3K	ENST00000359470.5	37	c.7	CCDS1475.1	1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816161	0.50527	0.0	1.16E-4	ENSG00000182795	ENST00000359470	T	0.08546	3.08	5.48	3.57	0.40892	.	0.363795	0.31031	N	0.008383	T	0.03739	0.0106	N	0.16656	0.425	0.80722	D	1	P	0.37500	0.597	B	0.26094	0.066	T	0.54761	-0.8245	10	0.19590	T	0.45	-15.7005	7.7428	0.28851	0.0:0.7093:0.136:0.1547	.	3	Q9BW04	SARG_HUMAN	K	3	ENSP00000352447:E3K	ENSP00000352447:E3K	E	-	1	0	C1orf116	205267560	0.970000	0.33590	0.963000	0.40424	0.792000	0.44763	1.050000	0.30404	0.629000	0.30376	0.655000	0.94253	GAG	C1orf116	-	NULL		0.612	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf116	HGNC	protein_coding	OTTHUMT00000088973.1	C	NM_024115		207200937	-1	no_errors	ENST00000359470	ensembl	human	known	70_37	missense	SNP	0.926	T
C1orf86	199990	genome.wustl.edu	37	1	2125597	2125598	+	Intron	DEL	AG	AG	-			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:2125597_2125598delAG	ENST00000378546.4	-	2	87				C1orf86_ENST00000400919.3_Intron|C1orf86_ENST00000487186.1_Intron|C1orf86_ENST00000378545.3_Intron	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86						cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GAGGGCAGACAGGGGGTACTCA	0.668																																																	0									,	1,4149		0,1,2074					,	-2.9	0.0			13	4,8160		0,4,4078	no	intron,intron	C1orf86	NM_182533.2,NM_001146310.1	,	0,5,6152	A1A1,A1R,RR		0.049,0.0241,0.0406	,	,		5,12309				SO:0001627	intron_variant	199990			AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.63-25CT>-	1.37:g.2125597_2125598delAG		Somatic		WXS	Illumina HiSeq	Phase_IV	A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	RNA	DEL	-	NULL	ENST00000378546.4	37	NULL	CCDS38.2	1																																																																																			C1orf86	-	-		0.668	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	C1orf86	HGNC	protein_coding	OTTHUMT00000316541.1	AG	NM_182533		2125598	-1	no_errors	ENST00000476803	ensembl	human	putative	70_37	rna	DEL	0.000:0.001	-
C1orf86	199990	genome.wustl.edu	37	1	2129633	2129633	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:2129633G>C	ENST00000487186.1	-	5	2798				C1orf86_ENST00000378545.3_Intron			Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86						cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CAGTGGAAATGAGTTTTTTCT	0.468																																																	0													118.0	94.0	101.0					1																	2129633		692	1591	2283	SO:0001627	intron_variant	199990			AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000487186.1:c.779-52C>G	1.37:g.2129633G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	RNA	SNP	-	NULL	ENST00000487186.1	37	NULL		1																																																																																			C1orf86	-	-		0.468	C1orf86-004	KNOWN	basic	processed_transcript	C1orf86	HGNC	protein_coding	OTTHUMT00000004067.3	G	NM_182533		2129633	-1	no_errors	ENST00000401813	ensembl	human	known	70_37	rna	SNP	0.000	C
C1orf35	79169	genome.wustl.edu	37	1	228289607	228289607	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:228289607G>C	ENST00000272139.4	-	6	768				C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35								poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				GGTGACCCGAGAAACTCCCCT	0.632																																																	0																																										SO:0001627	intron_variant	79169			AY137773	CCDS1566.1	1q42.13	2012-06-25			ENSG00000143793	ENSG00000143793			19032	protein-coding gene	gene with protein product	"""multiple myeloma tumor-associated protein 2"""					12545221	Standard	NM_024319		Approved	MGC4174, MMTAG2	uc001hrx.3	Q9BU76	OTTHUMG00000037793	ENST00000272139.4:c.533+173C>G	1.37:g.228289607G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P5Y0|Q6ZTZ6|Q6ZWA6|Q8IZH3	RNA	SNP	-	NULL	ENST00000272139.4	37	NULL	CCDS1566.1	1																																																																																			C1orf35	-	-		0.632	C1orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf35	HGNC	protein_coding	OTTHUMT00000092245.1	G	NM_024319		228289607	-1	no_errors	ENST00000469781	ensembl	human	known	70_37	rna	SNP	0.000	C
C20orf27	54976	genome.wustl.edu	37	20	3736209	3736209	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:3736209G>C	ENST00000379772.3	-	4	1018	c.208C>G	c.(208-210)Ctg>Gtg	p.L70V	C20orf27_ENST00000217195.8_Missense_Mutation_p.L95V	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	70										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						ACTGGGGGCAGAGTGAAGGTA	0.617																																																	0													77.0	66.0	70.0					20																	3736209		2203	4300	6503	SO:0001583	missense	54976			AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"""hypothetical protein LOC54976"""					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.208C>G	20.37:g.3736209G>C	ENSP00000369097:p.Leu70Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Missense_Mutation	SNP	NULL	p.L95V	ENST00000379772.3	37	c.283	CCDS58763.1	20	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354057	0.61293	.	.	ENSG00000101220	ENST00000379772;ENST00000217195;ENST00000399672;ENST00000379765	.	.	.	4.15	3.2	0.36748	.	0.000000	0.56097	U	0.000023	T	0.64627	0.2615	L	0.54908	1.71	0.50039	D	0.999848	P;P;D	0.76494	0.537;0.537;0.999	B;B;D	0.80764	0.203;0.391;0.994	T	0.61053	-0.7140	9	0.27785	T	0.31	-1.9094	6.5844	0.22612	0.2102:0.0:0.7898:0.0	.	70;95;70	Q9GZN8;Q9GZN8-2;E9PAL2	CT027_HUMAN;.;.	V	70;95;70;70	.	ENSP00000217195:L95V	L	-	1	2	C20orf27	3684209	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	3.523000	0.53488	1.358000	0.45922	0.561000	0.74099	CTG	C20orf27	-	NULL		0.617	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf27	HGNC	protein_coding	OTTHUMT00000077750.2	G	NM_001039140		3736209	-1	no_errors	ENST00000217195	ensembl	human	known	70_37	missense	SNP	0.998	C
C20orf24	55969	genome.wustl.edu	37	20	35238065	35238065	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:35238065G>A	ENST00000373852.5	+	3	415	c.280G>A	c.(280-282)Gag>Aag	p.E94K	TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.E120K|C20orf24_ENST00000344795.3_Missense_Mutation_p.E94K|C20orf24_ENST00000342422.3_Intron			Q9BUV8	CT024_HUMAN	chromosome 20 open reading frame 24	94										breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				ACAGATTGATGAGGAAGAATA	0.428																																																	0													349.0	287.0	308.0					20																	35238065		2203	4300	6503	SO:0001583	missense	55969			AF112213	CCDS13279.1, CCDS13280.1, CCDS56190.1	20q11.23	2011-01-25			ENSG00000101084	ENSG00000101084			15870	protein-coding gene	gene with protein product						15178406	Standard	NM_018840		Approved	PNAS-11, RIP5		Q9BUV8	OTTHUMG00000032384	ENST00000373852.5:c.280G>A	20.37:g.35238065G>A	ENSP00000362958:p.Glu94Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5U0|O00605|Q5QPG6|Q5QPG7|Q9BT03|Q9BZU7|Q9UI05	Missense_Mutation	SNP	NULL	p.E94K	ENST00000373852.5	37	c.280	CCDS56190.1	20	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852601	0.71719	.	.	ENSG00000101084	ENST00000344795;ENST00000373852	.	.	.	5.89	4.94	0.65067	.	.	.	.	.	D	0.83760	0.5324	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.79784	0.993;0.921;0.988	D	0.86803	0.1993	8	0.66056	D	0.02	.	14.1735	0.65525	0.0:0.0:0.849:0.151	.	94;94;94	Q9BUV8;Q9BUV8-2;Q9BUV8-3	CT024_HUMAN;.;.	K	94	.	ENSP00000340164:E94K	E	+	1	0	C20orf24	34671479	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	9.363000	0.97131	1.480000	0.48289	-0.181000	0.13052	GAG	C20orf24	-	NULL		0.428	C20orf24-001	KNOWN	basic|CCDS	protein_coding	C20orf24	HGNC	protein_coding	OTTHUMT00000079006.1	G	NM_018840		35238065	+1	no_errors	ENST00000373852	ensembl	human	known	70_37	missense	SNP	1.000	A
SNX5	27131	genome.wustl.edu	37	20	17950958	17950958	+	5'Flank	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:17950958G>A	ENST00000377768.3	-	0	0				SNX5_ENST00000606557.1_5'Flank|MGME1_ENST00000377710.5_Nonsense_Mutation_p.W152*|SNX5_ENST00000606602.1_5'Flank|MGME1_ENST00000377709.1_Intron|SNX5_ENST00000377759.4_5'Flank|MGME1_ENST00000377704.4_Nonsense_Mutation_p.W152*|SNX5_ENST00000486039.1_5'Flank|MGME1_ENST00000467391.1_3'UTR|SNX5_ENST00000481323.1_5'Flank	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5						intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TGGAGAGGTGGAAACAGCGGA	0.393																																																	0													106.0	112.0	110.0					20																	17950958		2203	4300	6503	SO:0001631	upstream_gene_variant	92667			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953		20.37:g.17950958G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Nonsense_Mutation	SNP	superfamily_Restrct_endonuc-II-like	p.W152*	ENST00000377768.3	37	c.456	CCDS13130.1	20	.	.	.	.	.	.	.	.	.	.	G	40	8.192552	0.98699	.	.	ENSG00000125871	ENST00000377710;ENST00000377704	.	.	.	5.97	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9677	15.0728	0.72053	0.0678:0.0:0.9322:0.0	.	.	.	.	X	152	.	ENSP00000366933:W152X	W	+	3	0	C20orf72	17898958	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	9.410000	0.97335	1.525000	0.49052	0.655000	0.94253	TGG	C20orf72	-	NULL		0.393	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf72	HGNC	protein_coding	OTTHUMT00000078137.4	G			17950958	+1	no_errors	ENST00000377710	ensembl	human	known	70_37	nonsense	SNP	1.000	A
C20orf62	140834	genome.wustl.edu	37	20	43090648	43090648	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:43090648C>T	ENST00000372910.3	-	2	454	c.390G>A	c.(388-390)ctG>ctA	p.L130L	C20orf62_ENST00000306731.4_Intron			Q4KN68	CT062_HUMAN	chromosome 20 open reading frame 62	130										lung(1)	1						gctgggctctcagccaGCACA	0.547																																																	0																																										SO:0001819	synonymous_variant	140834				CCDS74729.1	20q13.12	2014-08-13			ENSG00000168746	ENSG00000168746			16195	protein-coding gene	gene with protein product							Standard	NM_001287807		Approved	dJ1013A22.3	uc002xmb.3	Q4KN68	OTTHUMG00000130221	ENST00000372910.3:c.390G>A	20.37:g.43090648C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2S9|Q5QPC4	Silent	SNP	NULL	p.L130	ENST00000372910.3	37	c.390		20																																																																																			C20orf62	-	NULL		0.547	C20orf62-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	C20orf62	HGNC	protein_coding	OTTHUMT00000252541.1	C			43090648	-1	no_errors	ENST00000372910	ensembl	human	putative	70_37	silent	SNP	0.008	T
C2CD3	26005	genome.wustl.edu	37	11	73814626	73814626	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:73814626G>C	ENST00000334126.7	-	14	2356	c.2130C>G	c.(2128-2130)atC>atG	p.I710M	C2CD3_ENST00000313663.7_Missense_Mutation_p.I710M			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	710					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ACTTAGTATTGATACCAGTGA	0.373																																																	0													119.0	119.0	119.0					11																	73814626		2200	4293	6493	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2130C>G	11.37:g.73814626G>C	ENSP00000334379:p.Ile710Met	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.I710M	ENST00000334126.7	37	c.2130		11	.	.	.	.	.	.	.	.	.	.	G	6.963	0.547639	0.13312	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.10099	2.91;2.91	5.82	-0.25	0.13007	.	0.923564	0.09341	N	0.815430	T	0.08313	0.0207	L	0.40543	1.245	0.09310	N	1	B	0.32526	0.374	B	0.31547	0.132	T	0.35525	-0.9785	10	0.62326	D	0.03	-0.3769	3.4417	0.07466	0.226:0.1078:0.543:0.1232	.	710	Q4AC94-1	.	M	710	ENSP00000334379:I710M;ENSP00000323339:I710M	ENSP00000323339:I710M	I	-	3	3	C2CD3	73492274	0.000000	0.05858	0.015000	0.15790	0.086000	0.17979	0.105000	0.15333	0.053000	0.16036	-0.345000	0.07892	ATC	C2CD3	-	NULL		0.373	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		G	NM_015531		73814626	-1	no_errors	ENST00000334126	ensembl	human	known	70_37	missense	SNP	0.000	C
C2CD2L	9854	genome.wustl.edu	37	11	118984878	118984878	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:118984878G>A	ENST00000528586.1	+	9	1026	c.956G>A	c.(955-957)gGa>gAa	p.G319E	C2CD2L_ENST00000336702.3_Missense_Mutation_p.G572E			O14523	C2C2L_HUMAN	C2CD2-like	571						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GGGACCAGCGGAGGCCCCTCT	0.622																																																	0													127.0	125.0	126.0					11																	118984878		2200	4295	6495	SO:0001583	missense	9854			AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.956G>A	11.37:g.118984878G>A	ENSP00000433600:p.Gly319Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.G572E	ENST00000528586.1	37	c.1715		11	.	.	.	.	.	.	.	.	.	.	G	9.983	1.228653	0.22542	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.52057	0.68;0.68	5.41	4.48	0.54585	.	0.371449	0.24881	N	0.034859	T	0.22003	0.0530	N	0.08118	0	0.25532	N	0.987262	B;B	0.12013	0.005;0.005	B;B	0.14578	0.011;0.011	T	0.18618	-1.0331	10	0.02654	T	1	-3.6519	10.0338	0.42116	0.1524:0.0:0.8476:0.0	.	571;572	O14523;O14523-2	C2C2L_HUMAN;.	E	572;319	ENSP00000338885:G572E;ENSP00000433600:G319E	ENSP00000338885:G572E	G	+	2	0	C2CD2L	118490088	0.215000	0.23574	0.936000	0.37596	0.818000	0.46254	1.652000	0.37313	2.798000	0.96311	0.655000	0.94253	GGA	C2CD2L	-	NULL		0.622	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	C2CD2L	HGNC	protein_coding	OTTHUMT00000388199.2	G	NM_014807		118984878	+1	no_errors	ENST00000336702	ensembl	human	known	70_37	missense	SNP	0.311	A
C2orf68	388969	genome.wustl.edu	37	2	85838864	85838864	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:85838864C>G	ENST00000306336.5	-	2	197	c.153G>C	c.(151-153)gtG>gtC	p.V51V	USP39_ENST00000450066.2_5'Flank|C2orf68_ENST00000478626.1_5'UTR|USP39_ENST00000459775.1_Intron|C2orf68_ENST00000409734.3_Silent_p.V51V	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	51										breast(1)|central_nervous_system(1)|endometrium(1)	3						GCCGCCTCCTCACCTTCTCCT	0.731																																																	0													13.0	17.0	16.0					2																	85838864		1955	4111	6066	SO:0001819	synonymous_variant	388969				CCDS42704.1	2p11.2	2008-07-18			ENSG00000168887	ENSG00000168887			34353	protein-coding gene	gene with protein product							Standard	NM_001013649		Approved		uc002sqc.2	Q2NKX9	OTTHUMG00000153088	ENST00000306336.5:c.153G>C	2.37:g.85838864C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DT10|Q4G0J7|Q6ZVA6	Silent	SNP	pfam_UPF0561	p.V51	ENST00000306336.5	37	c.153	CCDS42704.1	2																																																																																			C2orf68	-	pfam_UPF0561		0.731	C2orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf68	HGNC	protein_coding	OTTHUMT00000329451.1	C	NM_001013649		85838864	-1	no_errors	ENST00000306336	ensembl	human	known	70_37	silent	SNP	0.991	G
C3	718	genome.wustl.edu	37	19	6707916	6707916	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:6707916C>G	ENST00000245907.6	-	15	1962	c.1870G>C	c.(1870-1872)Gac>Cac	p.D624H		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	624					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CAGCCGATGTCTGCCTTCTCC	0.652																																																	0													55.0	50.0	52.0					19																	6707916		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1870G>C	19.37:g.6707916C>G	ENSP00000245907:p.Asp624His	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.D624H	ENST00000245907.6	37	c.1870	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103527	0.76983	.	.	ENSG00000125730	ENST00000245907	T	0.59083	0.29	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.81645	0.4866	M	0.93939	3.475	0.49687	D	0.999817	D	0.89917	1.0	D	0.71656	0.974	D	0.86921	0.2067	10	0.66056	D	0.02	.	16.684	0.85300	0.0:1.0:0.0:0.0	.	624	P01024	CO3_HUMAN	H	624	ENSP00000245907:D624H	ENSP00000245907:D624H	D	-	1	0	C3	6658916	1.000000	0.71417	0.925000	0.36789	0.603000	0.37013	6.795000	0.75140	2.241000	0.73720	0.609000	0.83330	GAC	C3	-	NULL		0.652	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	C	NM_000064		6707916	-1	no_errors	ENST00000245907	ensembl	human	known	70_37	missense	SNP	0.999	G
C3orf20	84077	genome.wustl.edu	37	3	14731503	14731503	+	Splice_Site	SNP	G	G	C	rs540775293		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:14731503G>C	ENST00000253697.3	+	5	1077		c.e5-1		C3orf20_ENST00000412910.1_Splice_Site|C3orf20_ENST00000435614.1_Splice_Site	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TCCCACTCCAGAGTCCCTCGC	0.448																																																	0													96.0	99.0	98.0					3																	14731503		2203	4300	6503	SO:0001630	splice_region_variant	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.626-1G>C	3.37:g.14731503G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7L0U6|Q8NCP2|Q9H0I7	Splice_Site	SNP	-	e3-1	ENST00000253697.3	37	c.626-1	CCDS33706.1	3	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826815	0.32329	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4225	0.61007	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C3orf20	14706507	0.991000	0.36638	0.550000	0.28217	0.028000	0.11728	3.658000	0.54482	2.438000	0.82558	0.491000	0.48974	.	C3orf20	-	-		0.448	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	G	NM_032137	Intron	14731503	+1	no_errors	ENST00000253697	ensembl	human	known	70_37	splice_site	SNP	0.553	C
C3orf35	339883	genome.wustl.edu	37	3	37458809	37458809	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:37458809G>C	ENST00000328376.5	+	5	1031	c.52G>C	c.(52-54)Gaa>Caa	p.E18Q	C3orf35_ENST00000452017.2_Missense_Mutation_p.E18Q|C3orf35_ENST00000426078.1_Missense_Mutation_p.E18Q|C3orf35_ENST00000425564.2_Missense_Mutation_p.E18Q|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000425932.1_Missense_Mutation_p.E18Q	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	18						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AACAGGCCCAGAATTTGAAAA	0.388																																																	0													97.0	93.0	94.0					3																	37458809		1822	4078	5900	SO:0001583	missense	339883			AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"""AP20 region protein"", ""APRG1 tumor suppressor candidate"""	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.52G>C	3.37:g.37458809G>C	ENSP00000331625:p.Glu18Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZMA0|Q8IVJ5|Q8IVJ9	Missense_Mutation	SNP	NULL	p.E18Q	ENST00000328376.5	37	c.52	CCDS43065.1	3	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776315	0.31411	.	.	ENSG00000198590	ENST00000425932;ENST00000328376;ENST00000452017;ENST00000426078;ENST00000425564	T	0.55052	0.54	4.24	3.36	0.38483	.	.	.	.	.	T	0.30039	0.0752	N	0.08118	0	0.09310	N	1	B;P	0.35982	0.378;0.531	B;B	0.32533	0.147;0.143	T	0.14643	-1.0465	9	0.87932	D	0	.	8.0808	0.30744	0.1091:0.0:0.8909:0.0	.	18;18	Q8IVJ8-3;Q8IVJ8	.;APRG1_HUMAN	Q	18	ENSP00000331625:E18Q	ENSP00000331625:E18Q	E	+	1	0	C3orf35	37433813	0.031000	0.19500	0.298000	0.25002	0.739000	0.42172	1.318000	0.33643	1.369000	0.46134	0.563000	0.77884	GAA	C3orf35	-	NULL		0.388	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C3orf35	HGNC	protein_coding	OTTHUMT00000342344.2	G	NM_178338		37458809	+1	no_errors	ENST00000328376	ensembl	human	known	70_37	missense	SNP	0.405	C
C3orf17	25871	genome.wustl.edu	37	3	112724777	112724777	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:112724777G>C	ENST00000314400.5	-	9	1501	c.1310C>G	c.(1309-1311)tCa>tGa	p.S437*	C3orf17_ENST00000393857.2_Nonsense_Mutation_p.S301*|C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000383675.2_Nonsense_Mutation_p.S367*	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	437					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						ATGATGCTTTGAAGTTTTGAT	0.378																																																	0													66.0	60.0	62.0					3																	112724777		2203	4300	6503	SO:0001587	stop_gained	25871			AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.1310C>G	3.37:g.112724777G>C	ENSP00000320251:p.Ser437*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Nonsense_Mutation	SNP	NULL	p.S437*	ENST00000314400.5	37	c.1310	CCDS33824.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.255043	0.97417	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000412848;ENST00000393857	.	.	.	5.76	4.89	0.63831	.	0.285365	0.34314	N	0.004063	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-4.5777	10.9361	0.47247	0.0863:0.0:0.9137:0.0	.	.	.	.	X	437;367;84;301	.	ENSP00000320251:S437X	S	-	2	0	C3orf17	114207467	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.996000	0.49449	1.434000	0.47414	0.655000	0.94253	TCA	C3orf17	-	NULL		0.378	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf17	HGNC	protein_coding	OTTHUMT00000354405.3	G	NM_015412		112724777	-1	no_errors	ENST00000314400	ensembl	human	known	70_37	nonsense	SNP	1.000	C
C3orf58	205428	genome.wustl.edu	37	3	143691757	143691757	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:143691757C>T	ENST00000315691.3	+	1	1118	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	C3orf58_ENST00000441925.2_5'Flank|C3orf58_ENST00000495414.1_5'Flank|C3orf58_ENST00000493396.1_3'UTR	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	195					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTCCTGCTTCGCAACCTCAA	0.697																																																	0													10.0	10.0	10.0					3																	143691757		2172	4243	6415	SO:0001583	missense	205428			AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.583C>T	3.37:g.143691757C>T	ENSP00000320081:p.Arg195Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCF2|B7Z1W3	Missense_Mutation	SNP	NULL	p.R195C	ENST00000315691.3	37	c.583	CCDS3130.1	3	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850062	0.71603	.	.	ENSG00000181744	ENST00000315691	T	0.33865	1.39	3.41	3.41	0.39046	.	0.062767	0.64402	U	0.000019	T	0.29256	0.0728	N	0.22421	0.69	0.80722	D	1	D	0.67145	0.996	P	0.47744	0.556	T	0.09357	-1.0678	10	0.66056	D	0.02	.	10.4481	0.44505	0.1947:0.8053:0.0:0.0	.	195	Q8NDZ4	CC058_HUMAN	C	195	ENSP00000320081:R195C	ENSP00000320081:R195C	R	+	1	0	C3orf58	145174447	1.000000	0.71417	0.989000	0.46669	0.944000	0.59088	5.439000	0.66556	1.752000	0.51891	0.561000	0.74099	CGC	C3orf58	-	NULL		0.697	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf58	HGNC	protein_coding	OTTHUMT00000355038.1	C	NM_173552		143691757	+1	no_errors	ENST00000315691	ensembl	human	known	70_37	missense	SNP	1.000	T
ZGRF1	55345	genome.wustl.edu	37	4	113483555	113483555	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:113483555G>C	ENST00000505019.1	-	18	4794	c.4669C>G	c.(4669-4671)Cta>Gta	p.L1557V		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1557						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTTAGAGGTAGAGTAGCTGGA	0.343																																																	0													106.0	89.0	94.0					4																	113483555		2203	4300	6503	SO:0001583	missense	55345																														ENST00000505019.1:c.4669C>G	4.37:g.113483555G>C	ENSP00000424737:p.Leu1557Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF	p.L1557V	ENST00000505019.1	37	c.4669		4	.	.	.	.	.	.	.	.	.	.	G	9.559	1.118083	0.20877	.	.	ENSG00000138658	ENST00000505019	T	0.43688	0.94	5.66	4.82	0.62117	.	0.292675	0.23930	N	0.043143	T	0.42585	0.1209	M	0.72118	2.19	0.80722	D	1	B	0.33637	0.42	B	0.35240	0.198	T	0.38001	-0.9681	10	0.45353	T	0.12	-6.0889	9.2946	0.37808	0.2047:0.0:0.7953:0.0	.	1557	G5EA02	.	V	1557	ENSP00000424737:L1557V	ENSP00000404365:L455V	L	-	1	2	C4orf21	113703004	0.997000	0.39634	0.134000	0.22075	0.052000	0.14988	1.243000	0.32767	1.396000	0.46663	0.650000	0.86243	CTA	C4orf21	-	NULL		0.343	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	G			113483555	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	missense	SNP	0.968	C
ZGRF1	55345	genome.wustl.edu	37	4	113508633	113508633	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:113508633C>G	ENST00000505019.1	-	12	3705	c.3580G>C	c.(3580-3582)Gaa>Caa	p.E1194Q		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1194						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AAAGAGCTTTCATTGACAGCA	0.403																																																	0													229.0	236.0	234.0					4																	113508633		2203	4300	6503	SO:0001583	missense	55345																														ENST00000505019.1:c.3580G>C	4.37:g.113508633C>G	ENSP00000424737:p.Glu1194Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF	p.E1194Q	ENST00000505019.1	37	c.3580		4	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849320	0.32699	.	.	ENSG00000138658	ENST00000505019	D	0.82803	-1.65	5.55	3.59	0.41128	.	1.176290	0.06134	N	0.671216	T	0.69708	0.3141	L	0.27053	0.805	0.21220	N	0.999752	P	0.37276	0.589	B	0.30943	0.122	T	0.58020	-0.7710	10	0.27785	T	0.31	-2.0658	4.8333	0.13451	0.0:0.3125:0.0:0.6875	.	1194	G5EA02	.	Q	1194	ENSP00000424737:E1194Q	ENSP00000404365:E92Q	E	-	1	0	C4orf21	113728082	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-0.046000	0.11983	0.647000	0.30713	0.586000	0.80456	GAA	C4orf21	-	NULL		0.403	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	C			113508633	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	missense	SNP	0.004	G
C5AR1	728	genome.wustl.edu	37	19	47823375	47823375	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:47823375C>T	ENST00000355085.3	+	2	363	c.341C>T	c.(340-342)tCc>tTc	p.S114F		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	114					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ATCCTGCCCTCCCTCATCCTG	0.607																																																	0													75.0	69.0	71.0					19																	47823375		2203	4300	6503	SO:0001583	missense	728				CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.341C>T	19.37:g.47823375C>T	ENSP00000347197:p.Ser114Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_C5A_anaphtx_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Frt_met_rcpt	p.S114F	ENST00000355085.3	37	c.341	CCDS33063.1	19	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627799	0.46944	.	.	ENSG00000197405	ENST00000355085	T	0.30714	1.52	4.67	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.353251	0.28257	U	0.016004	T	0.46132	0.1377	L	0.43757	1.38	0.34289	D	0.68302	D	0.89917	1.0	D	0.85130	0.997	T	0.58132	-0.7690	10	0.44086	T	0.13	.	13.7859	0.63110	0.0:0.8447:0.1553:0.0	.	114	P21730	C5AR_HUMAN	F	114	ENSP00000347197:S114F	ENSP00000347197:S114F	S	+	2	0	C5AR1	52515215	0.002000	0.14202	0.504000	0.27639	0.233000	0.25261	1.663000	0.37429	0.940000	0.37473	0.478000	0.44815	TCC	C5AR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_C5A_anaphtx_rcpt,prints_Brdyknn_rcpt,prints_Frt_met_rcpt		0.607	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C5AR1	HGNC	protein_coding	OTTHUMT00000466925.1	C	NM_001736		47823375	+1	no_errors	ENST00000355085	ensembl	human	known	70_37	missense	SNP	0.850	T
C5orf42	65250	genome.wustl.edu	37	5	37183701	37183701	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:37183701C>T	ENST00000508244.1	-	25	4675	c.4582G>A	c.(4582-4584)Gaa>Aaa	p.E1528K	C5orf42_ENST00000425232.2_Missense_Mutation_p.E1528K|C5orf42_ENST00000274258.7_Missense_Mutation_p.E409K			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1528						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GATAACTTTTCATGATCTTCT	0.303																																																	0													50.0	49.0	49.0					5																	37183701		2202	4297	6499	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4582G>A	5.37:g.37183701C>T	ENSP00000421690:p.Glu1528Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.E1528K	ENST00000508244.1	37	c.4582	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150700	0.57151	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.6	3.82	0.43975	.	0.469751	0.17962	N	0.156129	T	0.49355	0.1552	N	0.19112	0.55	0.20307	N	0.999912	B;B	0.23377	0.047;0.084	B;B	0.21917	0.025;0.037	T	0.40459	-0.9562	10	0.45353	T	0.12	.	8.6909	0.34267	0.0:0.7138:0.0:0.2862	.	1528;409	E9PH94;Q9H799	.;CE042_HUMAN	K	1528;1528;409;576;409	ENSP00000421690:E1528K;ENSP00000389014:E1528K;ENSP00000274258:E409K;ENSP00000424223:E576K	ENSP00000274258:E409K	E	-	1	0	C5orf42	37219458	0.014000	0.17966	0.020000	0.16555	0.978000	0.69477	0.803000	0.27083	0.718000	0.32166	0.655000	0.94253	GAA	C5orf42	-	NULL		0.303	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	C	NM_023073		37183701	-1	no_errors	ENST00000425232	ensembl	human	known	70_37	missense	SNP	0.391	T
C6orf132	647024	genome.wustl.edu	37	6	42074647	42074647	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:42074647G>A	ENST00000341865.4	-	4	1002	c.1003C>T	c.(1003-1005)Ccc>Tcc	p.P335S		NM_001164446.1	NP_001157918.1	Q5T0Z8	CF132_HUMAN	chromosome 6 open reading frame 132	335										breast(1)	1						AGTCGGCTGGGAGCCTTCTTG	0.647																																																	0													18.0	25.0	23.0					6																	42074647		692	1591	2283	SO:0001583	missense	647024				CCDS47428.1	6p21.1	2012-02-06			ENSG00000188112	ENSG00000188112			21288	protein-coding gene	gene with protein product							Standard	NM_001164446		Approved	bA7K24.2	uc003orw.2	Q5T0Z8	OTTHUMG00000014695	ENST00000341865.4:c.1003C>T	6.37:g.42074647G>A	ENSP00000341368:p.Pro335Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NI05	Missense_Mutation	SNP	NULL	p.P335S	ENST00000341865.4	37	c.1003	CCDS47428.1	6	.	.	.	.	.	.	.	.	.	.	G	7.243	0.601752	0.13939	.	.	ENSG00000188112	ENST00000341865	T	0.40476	1.03	3.83	1.48	0.22813	.	.	.	.	.	T	0.04048	0.0113	N	0.01874	-0.695	0.21822	N	0.999528	.	.	.	.	.	.	T	0.43376	-0.9395	7	0.12103	T	0.63	.	6.0026	0.19529	0.3282:0.0:0.6718:0.0	.	.	.	.	S	335	ENSP00000341368:P335S	ENSP00000341368:P335S	P	-	1	0	C6orf132	42182625	0.577000	0.26708	0.500000	0.27589	0.971000	0.66376	1.841000	0.39240	0.573000	0.29400	0.644000	0.83932	CCC	C6orf132	-	NULL		0.647	C6orf132-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	C6orf132	HGNC	protein_coding	OTTHUMT00000040548.2	G	NM_001164446		42074647	-1	no_errors	ENST00000341865	ensembl	human	putative	70_37	missense	SNP	0.047	A
C6orf223	221416	genome.wustl.edu	37	6	43970504	43970504	+	Missense_Mutation	SNP	G	G	C	rs571541469		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:43970504G>C	ENST00000336600.5	+	4	390	c.370G>C	c.(370-372)Gcg>Ccg	p.A124P	RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_3'UTR|C6orf223_ENST00000442114.2_Missense_Mutation_p.A104P|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	124	Ala-rich.									central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			GGTAGAGCGCgcggcggcggc	0.776																																																	0													4.0	5.0	5.0					6																	43970504		1970	3961	5931	SO:0001583	missense	221416			BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.370G>C	6.37:g.43970504G>C	ENSP00000426159:p.Ala124Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PB59|Q8N575	Missense_Mutation	SNP	NULL	p.A124P	ENST00000336600.5	37	c.370	CCDS34459.1	6	.	.	.	.	.	.	.	.	.	.	G	7.885	0.730989	0.15507	.	.	ENSG00000181577	ENST00000336600	T	0.39787	1.06	.	.	.	.	.	.	.	.	T	0.09069	0.0224	N	0.08118	0	0.24382	N	0.994785	.	.	.	.	.	.	T	0.25984	-1.0116	5	0.87932	D	0	.	.	.	.	.	124	Q8N319	CF223_HUMAN	P	124	ENSP00000426159:A124P	ENSP00000426159:A124P	A	+	1	0	C6orf223	44078482	0.946000	0.32159	0.167000	0.22817	0.312000	0.27988	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GCG	C6orf223	-	NULL		0.776	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf223	HGNC	protein_coding	OTTHUMT00000040702.3	G	NM_153246		43970504	+1	no_errors	ENST00000336600	ensembl	human	known	70_37	missense	SNP	0.161	C
C7	730	genome.wustl.edu	37	5	40947764	40947764	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:40947764C>G	ENST00000313164.9	+	8	1158	c.799C>G	c.(799-801)Cca>Gca	p.P267A		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	267	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				TAATAACAATCCAGAATTTTT	0.438																																																	0													71.0	68.0	69.0					5																	40947764		1852	4094	5946	SO:0001583	missense	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.799C>G	5.37:g.40947764C>G	ENSP00000322061:p.Pro267Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P3T5|Q92489	Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.P267A	ENST00000313164.9	37	c.799	CCDS47201.1	5	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746827	0.69418	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	D	0.84660	-1.88	5.9	5.9	0.94986	Membrane attack complex component/perforin (MACPF) domain (3);	0.053789	0.85682	D	0.000000	D	0.92867	0.7731	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92954	0.6383	10	0.66056	D	0.02	-19.4805	18.4666	0.90758	0.0:1.0:0.0:0.0	.	267	P10643	CO7_HUMAN	A	267	ENSP00000322061:P267A	ENSP00000322061:P267A	P	+	1	0	C7	40983521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.512000	0.60469	2.786000	0.95864	0.650000	0.86243	CCA	C7	-	pfam_MACPF,smart_MACPF		0.438	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	C			40947764	+1	no_errors	ENST00000313164	ensembl	human	known	70_37	missense	SNP	1.000	G
C7orf66	154907	genome.wustl.edu	37	7	108524529	108524529	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:108524529G>A	ENST00000379007.2	-	1	115	c.61C>T	c.(61-63)Cat>Tat	p.H21Y		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	21						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						AGTCTCTGATGAGTGAGATGA	0.383																																																	0													147.0	125.0	132.0					7																	108524529		2203	4300	6503	SO:0001583	missense	154907			AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.61C>T	7.37:g.108524529G>A	ENSP00000368292:p.His21Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.H21Y	ENST00000379007.2	37	c.61	CCDS34735.1	7	.	.	.	.	.	.	.	.	.	.	G	5.737	0.320378	0.10845	.	.	ENSG00000205174	ENST00000379007	.	.	.	2.81	0.801	0.18679	.	.	.	.	.	T	0.14442	0.0349	N	0.08118	0	0.09310	N	1	B	0.23650	0.089	B	0.16289	0.015	T	0.25152	-1.0140	7	.	.	.	.	3.4795	0.07597	0.1685:0.2662:0.5654:0.0	.	21	A4D0T2	CG066_HUMAN	Y	21	.	.	H	-	1	0	C7orf66	108311765	0.002000	0.14202	0.143000	0.22291	0.225000	0.24961	0.154000	0.16343	0.189000	0.20188	0.455000	0.32223	CAT	C7orf66	-	NULL		0.383	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	C7orf66	HGNC	protein_coding	OTTHUMT00000337420.1	G	NM_001024607		108524529	-1	no_errors	ENST00000379007	ensembl	human	putative	70_37	missense	SNP	0.221	A
C8G	733	genome.wustl.edu	37	9	139840540	139840540	+	Missense_Mutation	SNP	G	G	T	rs570588605		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:139840540G>T	ENST00000224181.3	+	4	410	c.350G>T	c.(349-351)cGa>cTa	p.R117L	FBXW5_ENST00000325285.3_5'Flank|FBXW5_ENST00000483559.1_5'Flank	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	117					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	retinol binding (GO:0019841)			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		GCCCCAGCCCGAGACGCCCGA	0.647																																																	0													20.0	21.0	21.0					9																	139840540		2199	4299	6498	SO:0001583	missense	733			X06465	CCDS7017.1	9q	2011-11-15			ENSG00000176919	ENSG00000176919		"""Complement system"", ""Lipocalins"""	1354	protein-coding gene	gene with protein product		120930					Standard	NM_000606		Approved		uc004cka.2	P07360	OTTHUMG00000020955	ENST00000224181.3:c.350G>T	9.37:g.139840540G>T	ENSP00000224181:p.Arg117Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CT8|Q14CU0|Q5SQ07	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_A1-microglobln,prints_Lipocalin	p.R117L	ENST00000224181.3	37	c.350	CCDS7017.1	9	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763103	0.69763	.	.	ENSG00000176919	ENST00000371634;ENST00000224181	T;T	0.22945	3.14;1.93	4.15	0.0462	0.14233	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.955561	0.08676	N	0.910165	T	0.20659	0.0497	L	0.53249	1.67	0.23681	N	0.99712	P	0.44195	0.828	B	0.40165	0.321	T	0.18808	-1.0325	10	0.27785	T	0.31	-0.3502	3.8255	0.08852	0.469:0.2029:0.3281:0.0	.	117	P07360	CO8G_HUMAN	L	117	ENSP00000360697:R117L;ENSP00000224181:R117L	ENSP00000224181:R117L	R	+	2	0	C8G	138960361	0.000000	0.05858	0.124000	0.21820	0.414000	0.31173	-0.207000	0.09384	0.125000	0.18397	0.561000	0.74099	CGA	C8G	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.647	C8G-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C8G	HGNC	protein_coding	OTTHUMT00000055178.1	G			139840540	+1	no_errors	ENST00000224181	ensembl	human	known	70_37	missense	SNP	0.292	T
C8orf46	254778	genome.wustl.edu	37	8	67428146	67428146	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:67428146G>C	ENST00000305454.3	+	6	900	c.459G>C	c.(457-459)aaG>aaC	p.K153N	C8orf46_ENST00000521495.1_Missense_Mutation_p.D121H|C8orf46_ENST00000522977.1_Missense_Mutation_p.D133H	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	153										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			ATCTCAAGAAGATGACTGAAG	0.537																																																	0													86.0	81.0	83.0					8																	67428146		2203	4300	6503	SO:0001583	missense	254778			BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.459G>C	8.37:g.67428146G>C	ENSP00000302260:p.Lys153Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDC3|B4DFU4|C9J814|C9JCS3	Missense_Mutation	SNP	NULL	p.K153N	ENST00000305454.3	37	c.459	CCDS6191.2	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.74|14.74	2.626980|2.626980	0.46840|0.46840	.|.	.|.	ENSG00000169085|ENSG00000169085	ENST00000521495;ENST00000522977|ENST00000305454	.|.	.|.	.|.	5.13|5.13	4.24|4.24	0.50183|0.50183	.|.	.|0.000000	.|0.64402	.|D	.|0.000016	T|T	0.56863|0.56863	0.2014|0.2014	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D|D	0.65815|0.76494	0.995|0.999	P|D	0.58873|0.83275	0.847|0.996	T|T	0.59799|0.59799	-0.7386|-0.7386	8|9	0.87932|0.87932	D|D	0|0	-7.7577|-7.7577	9.5339|9.5339	0.39211|0.39211	0.1629:0.0:0.8371:0.0|0.1629:0.0:0.8371:0.0	.|.	133|153	Q8TAG6-2|Q8TAG6	.|CH046_HUMAN	H|N	121;133|153	.|.	ENSP00000430501:D121H|ENSP00000302260:K153N	D|K	+|+	1|3	0|2	C8orf46|C8orf46	67590700|67590700	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.987000|0.987000	0.75469|0.75469	3.242000|3.242000	0.51384|0.51384	2.385000|2.385000	0.81259|0.81259	0.563000|0.563000	0.77884|0.77884	GAT|AAG	C8orf46	-	NULL		0.537	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf46	HGNC	protein_coding	OTTHUMT00000347010.1	G	NM_152765		67428146	+1	no_errors	ENST00000305454	ensembl	human	known	70_37	missense	SNP	0.990	C
C9orf3	84909	genome.wustl.edu	37	9	97686290	97686290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:97686290C>T	ENST00000375315.2	+	5	1387	c.1387C>T	c.(1387-1389)Cag>Tag	p.Q463*	C9orf3_ENST00000297979.5_Intron|C9orf3_ENST00000395357.2_Nonsense_Mutation_p.Q83*|C9orf3_ENST00000277198.2_Nonsense_Mutation_p.Q463*|C9orf3_ENST00000473778.1_3'UTR	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	463					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GTTCCTCTCTCAGAGCATCTT	0.562																																																	0																																										SO:0001587	stop_gained	84909			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1387C>T	9.37:g.97686290C>T	ENSP00000364464:p.Gln463*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Nonsense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.Q463*	ENST00000375315.2	37	c.1387	CCDS55328.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.688327	0.96784	.	.	ENSG00000148120	ENST00000277198;ENST00000375315;ENST00000428313;ENST00000395357	.	.	.	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.4753	18.564	0.91111	0.0:1.0:0.0:0.0	.	.	.	.	X	463;463;245;83	.	ENSP00000277198:Q463X	Q	+	1	0	C9orf3	96726111	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.456000	0.80751	2.393000	0.81446	0.561000	0.74099	CAG	C9orf3	-	pfam_Peptidase_M1_N		0.562	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		C	NM_032823		97686290	+1	no_errors	ENST00000375315	ensembl	human	known	70_37	nonsense	SNP	1.000	T
C9orf16	79095	genome.wustl.edu	37	9	130922669	130922669	+	5'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:130922669C>T	ENST00000372994.1	+	0	131				C9orf16_ENST00000492588.1_3'UTR	NM_024112.3	NP_077017.1	Q9BUW7	CI016_HUMAN	chromosome 9 open reading frame 16											ovary(1)	1		Myeloproliferative disorder(762;0.0511)		GBM - Glioblastoma multiforme(294;0.0294)		CGCGGCCCTTCGGGCGCCCGA	0.716																																																	0													7.0	9.0	8.0					9																	130922669		1654	3007	4661	SO:0001623	5_prime_UTR_variant	79095			AK022885	CCDS6893.1	9q34.1	2012-03-06			ENSG00000171159	ENSG00000171159			17823	protein-coding gene	gene with protein product						10369878	Standard	NM_024112		Approved	EST00098, FLJ12823, MGC4639	uc004btp.1	Q9BUW7	OTTHUMG00000020731	ENST00000372994.1:c.-18C>T	9.37:g.130922669C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SYV8|Q9Y3F7	RNA	SNP	-	NULL	ENST00000372994.1	37	NULL	CCDS6893.1	9																																																																																			C9orf16	-	-		0.716	C9orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf16	HGNC	protein_coding	OTTHUMT00000054351.1	C	NM_024112		130922669	+1	no_errors	ENST00000489240	ensembl	human	known	70_37	rna	SNP	0.171	T
C9orf114	51490	genome.wustl.edu	37	9	131586097	131586097	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:131586097C>T	ENST00000361256.5	-	11	1031	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	331							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						ACACTGGGTTCAGCCACCTCC	0.637																																																	0													52.0	42.0	46.0					9																	131586097		2203	4300	6503	SO:0001583	missense	51490				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"""centromere protein 32"""					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.991G>A	9.37:g.131586097C>T	ENSP00000354812:p.Glu331Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like	p.E331K	ENST00000361256.5	37	c.991	CCDS6913.1	9	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092966	0.76756	.	.	ENSG00000198917	ENST00000361256	T	0.28454	1.61	5.64	4.75	0.60458	.	.	.	.	.	T	0.27629	0.0679	L	0.31664	0.95	0.42356	D	0.99239	P	0.36683	0.565	B	0.40256	0.324	T	0.09185	-1.0686	9	0.59425	D	0.04	0.3703	13.4093	0.60933	0.0:0.9252:0.0:0.0748	.	331	Q5T280	CI114_HUMAN	K	331	ENSP00000354812:E331K	ENSP00000354812:E331K	E	-	1	0	C9orf114	130625918	1.000000	0.71417	0.863000	0.33907	0.963000	0.63663	7.635000	0.83286	1.386000	0.46466	0.462000	0.41574	GAA	C9orf114	-	pfam_Put_MeTrfase		0.637	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf114	HGNC	protein_coding	OTTHUMT00000054500.1	C	NM_016390		131586097	-1	no_errors	ENST00000361256	ensembl	human	known	70_37	missense	SNP	0.994	T
C9orf50	375759	genome.wustl.edu	37	9	132375857	132375857	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:132375857C>T	ENST00000372478.4	-	5	1101	c.900G>A	c.(898-900)gtG>gtA	p.V300V	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	300										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				CCTTCTGGTTCACAATGACGC	0.627																																																	0													67.0	68.0	67.0					9																	132375857		2203	4300	6503	SO:0001819	synonymous_variant	375759			AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.900G>A	9.37:g.132375857C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M1I2|Q8NA65	Silent	SNP	NULL	p.V300	ENST00000372478.4	37	c.900	CCDS35159.1	9																																																																																			C9orf50	-	NULL		0.627	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf50	HGNC	protein_coding	OTTHUMT00000054593.1	C	NM_199350		132375857	-1	no_errors	ENST00000372478	ensembl	human	known	70_37	silent	SNP	0.000	T
CA6	765	genome.wustl.edu	37	1	9034807	9034807	+	3'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:9034807G>A	ENST00000377443.2	+	0	975				CA6_ENST00000476083.1_3'UTR	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI						bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	CTTGAAGCCTGACCTAGCCAG	0.473																																																	0													30.0	31.0	30.0					1																	9034807		2198	4297	6495	SO:0001624	3_prime_UTR_variant	765			M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.*44G>A	1.37:g.9034807G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	RNA	SNP	-	NULL	ENST00000377443.2	37	NULL	CCDS30578.1	1																																																																																			CA6	-	-		0.473	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CA6	HGNC	protein_coding	OTTHUMT00000004911.1	G			9034807	+1	no_errors	ENST00000476083	ensembl	human	known	70_37	rna	SNP	0.000	A
CACNA1A	773	genome.wustl.edu	37	19	13616813	13616813	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:13616813G>A	ENST00000360228.5	-	1	225	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R76W	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	76					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGAGAGACCGGTTAACCGTG	0.562																																																	0													88.0	97.0	94.0					19																	13616813		2089	4213	6302	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.226C>T	19.37:g.13616813G>A	ENSP00000353362:p.Arg76Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.R76W	ENST00000360228.5	37	c.226	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636203	0.29068	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.55052	0.54	3.36	2.32	0.28847	.	0.224290	0.27906	U	0.017374	T	0.66237	0.2769	M	0.67569	2.06	0.50171	D	0.999851	D;D	0.89917	1.0;1.0	D;D	0.76575	0.924;0.988	T	0.66670	-0.5865	10	0.87932	D	0	.	9.4259	0.38578	0.1101:0.0:0.8899:0.0	.	76;76	O00555;Q9NS88	CAC1A_HUMAN;.	W	76	ENSP00000353362:R76W	ENSP00000317661:R76W	R	-	1	2	CACNA1A	13477813	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	5.092000	0.64511	0.635000	0.30488	-0.357000	0.07601	CGG	CACNA1A	-	NULL		0.562	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	G	NM_000068		13616813	-1	no_errors	ENST00000360228	ensembl	human	known	70_37	missense	SNP	1.000	A
CACNA1B	774	genome.wustl.edu	37	9	140777216	140777216	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:140777216C>G	ENST00000371372.1	+	3	556	c.411C>G	c.(409-411)ttC>ttG	p.F137L	RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277551.2_Missense_Mutation_p.F137L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.F137L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F137L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F137L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	137					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCCCTATTTCATCGGGATCT	0.577																																																	0													139.0	147.0	144.0					9																	140777216		2068	4195	6263	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.411C>G	9.37:g.140777216C>G	ENSP00000360423:p.Phe137Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.F137L	ENST00000371372.1	37	c.411	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967383	0.34754	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98968	-5.28;-5.28;-5.28;-5.28;-5.28	4.72	1.84	0.25277	.	0.000000	0.85682	D	0.000000	D	0.98963	0.9647	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.98503	1.0615	10	0.87932	D	0	.	5.9345	0.19158	0.0:0.4611:0.0:0.5388	.	137	B1AQK6	.	L	137	ENSP00000360423:F137L;ENSP00000277551:F137L;ENSP00000360414:F137L;ENSP00000360408:F137L;ENSP00000360406:F137L	ENSP00000277551:F137L	F	+	3	2	CACNA1B	139897037	1.000000	0.71417	0.999000	0.59377	0.201000	0.24016	0.806000	0.27126	0.418000	0.25898	0.467000	0.42956	TTC	CACNA1B	-	pfam_Ion_trans_dom		0.577	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	C	NM_000718		140777216	+1	no_errors	ENST00000371355	ensembl	human	known	70_37	missense	SNP	1.000	G
CACNA1C	775	genome.wustl.edu	37	12	2787058	2787058	+	Intron	SNP	C	C	G	rs2302731	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:2787058C>G	ENST00000347598.4	+	43	5235				CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399634.1_Intron	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCGCACTCTCGACCCCTATA	0.582																																																	0													51.0	56.0	54.0					12																	2787058		2077	4200	6277	SO:0001627	intron_variant	100652846			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5235+25C>G	12.37:g.2787058C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	RNA	SNP	-	NULL	ENST00000347598.4	37	NULL	CCDS44788.1	12																																																																																			CACNA1C-AS1	-	-		0.582	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C-AS1	HGNC	protein_coding	OTTHUMT00000317035.1	C	NM_000719		2787058	-1	no_errors	ENST00000501371	ensembl	human	known	70_37	rna	SNP	0.000	G
CACNA1G	8913	genome.wustl.edu	37	17	48655898	48655898	+	Silent	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:48655898C>A	ENST00000359106.5	+	9	2274	c.2274C>A	c.(2272-2274)ctC>ctA	p.L758L	CACNA1G_ENST00000512389.1_Silent_p.L758L|CACNA1G_ENST00000514717.1_Silent_p.L758L|CACNA1G_ENST00000507510.2_Silent_p.L758L|CACNA1G_ENST00000513689.2_Silent_p.L758L|CACNA1G_ENST00000515765.1_Silent_p.L758L|CACNA1G_ENST00000515411.1_Silent_p.L758L|CACNA1G_ENST00000507609.1_Silent_p.L758L|CACNA1G_ENST00000416767.4_Silent_p.L758L|CACNA1G_ENST00000352832.5_Silent_p.L758L|CACNA1G_ENST00000507896.1_Silent_p.L758L|CACNA1G_ENST00000505165.1_Silent_p.L758L|CACNA1G_ENST00000514079.1_Silent_p.L758L|CACNA1G_ENST00000358244.5_Silent_p.L758L|CACNA1G_ENST00000503485.1_Silent_p.L758L|CACNA1G_ENST00000510115.1_Silent_p.L758L|CACNA1G_ENST00000429973.2_Silent_p.L758L|CACNA1G_ENST00000515165.1_Silent_p.L758L|CACNA1G_ENST00000502264.1_Silent_p.L758L|CACNA1G_ENST00000354983.4_Silent_p.L758L|CACNA1G_ENST00000360761.4_Silent_p.L758L|CACNA1G_ENST00000514181.1_Silent_p.L758L|CACNA1G_ENST00000507336.1_Silent_p.L758L|CACNA1G_ENST00000442258.2_Silent_p.L758L|CACNA1G_ENST00000510366.1_Silent_p.L758L|CACNA1G_ENST00000513964.1_Silent_p.L758L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	758					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCAACACACTCAGCATGGGCA	0.582																																																	0													61.0	64.0	63.0					17																	48655898		2087	4220	6307	SO:0001819	synonymous_variant	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2274C>A	17.37:g.48655898C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.L758	ENST00000359106.5	37	c.2274	CCDS45730.1	17																																																																																			CACNA1G	-	NULL		0.582	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	C	NM_018896		48655898	+1	no_errors	ENST00000359106	ensembl	human	known	70_37	silent	SNP	1.000	A
CACNA1G	8913	genome.wustl.edu	37	17	48685357	48685357	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:48685357G>A	ENST00000359106.5	+	25	4682	c.4682G>A	c.(4681-4683)cGa>cAa	p.R1561Q	CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1504Q|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1527Q|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1538Q|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1538Q|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1527Q|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1538Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1538Q|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1538Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1538Q|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1538Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1527Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1527Q	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1561					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AAGCGCCTACGAAGACTGGAG	0.577																																																	0													58.0	65.0	63.0					17																	48685357		1982	4150	6132	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4682G>A	17.37:g.48685357G>A	ENSP00000352011:p.Arg1561Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.R1561Q	ENST00000359106.5	37	c.4682	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	g	18.86	3.713442	0.68730	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96885	-4.04;-4.07;-4.03;-4.08;-4.04;-4.09;-4.15;-4.07;-4.16;-4.08;-4.0;-4.04;-4.09;-4.03;-4.02;-4.05;-4.06;-4.04;-4.12;-4.07;-4.0;-4.1;-4.05;-4.05;-4.09	4.75	3.75	0.43078	.	0.622717	0.15324	N	0.268402	D	0.95335	0.8486	L	0.58810	1.83	0.09310	N	1	B;P;B;B;P;B;B;B;B;P;B;P;B;P;B;B;P;P;B;B;B;B;B;D;D	0.58970	0.107;0.497;0.212;0.348;0.5;0.365;0.212;0.062;0.212;0.718;0.047;0.856;0.316;0.88;0.365;0.073;0.673;0.501;0.308;0.216;0.147;0.114;0.107;0.984;0.968	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;P;B	0.48304	0.021;0.248;0.049;0.094;0.064;0.132;0.073;0.064;0.073;0.195;0.022;0.264;0.192;0.173;0.132;0.012;0.248;0.063;0.064;0.167;0.035;0.094;0.049;0.573;0.286	D	0.89539	0.3791	10	0.56958	D	0.05	.	10.6203	0.45476	0.1591:0.0:0.8409:0.0	.	1504;1527;1527;1561;1527;1561;1561;1527;1561;1561;1561;1538;1561;1561;1561;1561;1561;1538;1561;1538;1538;1538;1538;1561;1538	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	Q	1538;1538;1538;1538;1538;1561;1527;1504;1527;1527;1561;1561;1527;1561;1538;1561;1561;1561;1561;1538;1561;1561;1561;1561;1561	ENSP00000353990:R1538Q;ENSP00000339302:R1538Q;ENSP00000347078:R1538Q;ENSP00000409759:R1538Q;ENSP00000425522:R1538Q;ENSP00000426261:R1561Q;ENSP00000425451:R1527Q;ENSP00000422407:R1504Q;ENSP00000426814:R1527Q;ENSP00000427238:R1527Q;ENSP00000423112:R1561Q;ENSP00000420918:R1561Q;ENSP00000426172:R1527Q;ENSP00000423045:R1561Q;ENSP00000427173:R1538Q;ENSP00000426098:R1561Q;ENSP00000425698:R1561Q;ENSP00000426232:R1561Q;ENSP00000423317:R1561Q;ENSP00000350979:R1538Q;ENSP00000352011:R1561Q;ENSP00000414388:R1561Q;ENSP00000423155:R1561Q;ENSP00000422268:R1561Q;ENSP00000421518:R1561Q	ENSP00000339302:R1538Q	R	+	2	0	CACNA1G	46040356	0.455000	0.25736	0.867000	0.34043	0.977000	0.68977	2.647000	0.46639	0.965000	0.38133	0.549000	0.68633	CGA	CACNA1G	-	prints_VDCC_T_a1su		0.577	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	G	NM_018896		48685357	+1	no_errors	ENST00000359106	ensembl	human	known	70_37	missense	SNP	0.021	A
CACNA1H	8912	genome.wustl.edu	37	16	1270951	1270951	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:1270951C>G	ENST00000348261.5	+	35	7267	c.7019C>G	c.(7018-7020)tCa>tGa	p.S2340*	CACNA1H_ENST00000358590.4_Nonsense_Mutation_p.S2334*|CACNA1H_ENST00000565831.1_Nonsense_Mutation_p.S2334*	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2340					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GGGTCCCCCTCAGCCACCCCT	0.701																																																	0													15.0	17.0	16.0					16																	1270951		1834	4070	5904	SO:0001587	stop_gained	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.7019C>G	16.37:g.1270951C>G	ENSP00000334198:p.Ser2340*	Somatic		WXS	Illumina HiSeq	Phase_IV	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.S2340*	ENST00000348261.5	37	c.7019	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	c	24.4	4.525142	0.85600	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	.	.	.	3.38	2.42	0.29668	.	.	.	.	.	.	.	.	.	.	.	0.28433	N	0.917162	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	7.3424	0.26644	0.0:0.8716:0.0:0.1284	.	.	.	.	X	2340;2334	.	ENSP00000334198:S2340X	S	+	2	0	CACNA1H	1210952	0.000000	0.05858	0.027000	0.17364	0.073000	0.16967	0.925000	0.28791	0.636000	0.30508	0.580000	0.79431	TCA	CACNA1H	-	NULL		0.701	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	C	NM_001005407		1270951	+1	no_errors	ENST00000348261	ensembl	human	known	70_37	nonsense	SNP	0.394	G
CACNA2D2	9254	genome.wustl.edu	37	3	50412211	50412211	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:50412211G>A	ENST00000479441.1	-	22	1940	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	CACNA2D2_ENST00000435965.1_Silent_p.F647F|CACNA2D2_ENST00000429770.1_Silent_p.F647F|CACNA2D2_ENST00000395083.1_Silent_p.F647F|CACNA2D2_ENST00000423994.2_Silent_p.F647F|CACNA2D2_ENST00000266039.3_Silent_p.F647F|CACNA2D2_ENST00000424201.2_Silent_p.F647F|CACNA2D2_ENST00000360963.3_Silent_p.F578F			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	647					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTTGGAGGTAGAAGGTGCTGT	0.692																																																	0													42.0	31.0	35.0					3																	50412211		2180	4290	6470	SO:0001819	synonymous_variant	9254			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.1941C>T	3.37:g.50412211G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.F647	ENST00000479441.1	37	c.1941	CCDS54588.1	3																																																																																			CACNA2D2	-	pfam_VDCC_a2/dsu		0.692	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	HGNC	protein_coding	OTTHUMT00000346457.1	G	NM_006030		50412211	-1	no_errors	ENST00000435965	ensembl	human	known	70_37	silent	SNP	1.000	A
CACNA2D4	93589	genome.wustl.edu	37	12	1910285	1910285	+	Splice_Site	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:1910285C>T	ENST00000382722.5	-	31	3155		c.e31-1		CACNA2D4_ENST00000588077.1_Splice_Site|CACNA2D4_ENST00000585708.1_Splice_Site|CACNA2D4_ENST00000586184.1_Splice_Site|CACNA2D4_ENST00000587995.1_Splice_Site|CACNA2D4_ENST00000538027.2_Splice_Site|CACNA2D4_ENST00000538450.1_Splice_Site	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4						calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CATAGTCACTCTGAAAATCAG	0.577											OREG0021569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(2;101 179 21030 23310 28141)												0													87.0	100.0	95.0					12																	1910285		2190	4286	6476	SO:0001630	splice_region_variant	93589			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.2793-1G>A	12.37:g.1910285C>T		Somatic	599	WXS	Illumina HiSeq	Phase_IV	Q7Z3S8|Q86XZ5|Q8IZS9	Splice_Site	SNP	-	e31-1	ENST00000382722.5	37	c.2793-1	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	C	8.980	0.975093	0.18736	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722;ENST00000538450	.	.	.	5.63	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9683	0.58497	0.1622:0.8378:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA2D4	1780546	1.000000	0.71417	0.987000	0.45799	0.040000	0.13550	6.662000	0.74426	1.366000	0.46076	-0.311000	0.09066	.	CACNA2D4	-	-		0.577	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	HGNC	protein_coding	OTTHUMT00000398230.2	C		Intron	1910285	-1	no_errors	ENST00000382722	ensembl	human	known	70_37	splice_site	SNP	1.000	T
CACNB2	783	genome.wustl.edu	37	10	18828165	18828165	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:18828165C>G	ENST00000324631.7	+	14	1555	c.1495C>G	c.(1495-1497)Caa>Gaa	p.Q499E	CACNB2_ENST00000377329.4_Missense_Mutation_p.Q445E|CACNB2_ENST00000377328.1_Missense_Mutation_p.Q249E|CACNB2_ENST00000396576.2_Missense_Mutation_p.Q444E|CACNB2_ENST00000377315.4_Missense_Mutation_p.Q451E|CACNB2_ENST00000377319.3_Missense_Mutation_p.Q406E|CACNB2_ENST00000377331.2_Missense_Mutation_p.Q447E|CACNB2_ENST00000352115.6_Missense_Mutation_p.Q475E|CACNB2_ENST00000282343.8_Missense_Mutation_p.Q471E|RP11-499P20.2_ENST00000436485.1_RNA|RP11-499P20.2_ENST00000425669.1_RNA	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	499					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAGGGTTCTCAAGGTGATCA	0.512																																																	0													99.0	89.0	93.0					10																	18828165		2203	4300	6503	SO:0001583	missense	783			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1495C>G	10.37:g.18828165C>G	ENSP00000320025:p.Gln499Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su	p.Q499E	ENST00000324631.7	37	c.1495	CCDS7125.1	10	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359895	0.61403	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D;D	0.82344	-1.58;-1.57;-1.6;-1.57;-1.58;-1.58;-1.58;-1.58;-1.58	5.32	5.32	0.75619	.	0.739973	0.13849	N	0.358479	T	0.80470	0.4629	L	0.36672	1.1	0.54753	D	0.999986	B;B;P;B;B;B;B;B;B;B;B;B;B	0.48998	0.017;0.112;0.918;0.047;0.081;0.079;0.087;0.03;0.112;0.178;0.122;0.288;0.183	B;B;P;B;B;B;B;B;B;B;B;B;B	0.46885	0.006;0.021;0.53;0.008;0.076;0.041;0.019;0.022;0.048;0.048;0.051;0.103;0.03	T	0.74748	-0.3560	10	0.09590	T	0.72	-7.9776	19.1859	0.93644	0.0:1.0:0.0:0.0	.	413;471;249;451;421;445;455;406;447;471;461;475;499	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	E	499;475;249;471;447;444;406;445;451	ENSP00000320025:Q499E;ENSP00000344474:Q475E;ENSP00000366545:Q249E;ENSP00000282343:Q471E;ENSP00000366548:Q447E;ENSP00000379821:Q444E;ENSP00000366536:Q406E;ENSP00000366546:Q445E;ENSP00000366532:Q451E	ENSP00000282343:Q471E	Q	+	1	0	CACNB2	18868171	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.781000	0.55394	2.778000	0.95560	0.655000	0.94253	CAA	CACNB2	-	NULL		0.512	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB2	HGNC	protein_coding	OTTHUMT00000047072.2	C	NM_000724		18828165	+1	no_errors	ENST00000324631	ensembl	human	known	70_37	missense	SNP	1.000	G
CALCB	797	genome.wustl.edu	37	11	15098849	15098849	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:15098849G>C	ENST00000533448.1	+	4	353	c.242G>C	c.(241-243)aGa>aCa	p.R81T	CALCB_ENST00000523376.1_Missense_Mutation_p.R92T|CALCB_ENST00000324229.6_Missense_Mutation_p.R81T			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	81					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						GCCCAGAAGAGAGCCTGCAAC	0.542																																																	0													54.0	53.0	53.0					11																	15098849		2200	4294	6494	SO:0001583	missense	797				CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"""Endogenous ligands"""	1438	protein-coding gene	gene with protein product		114160	"""calcitonin 2"""	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.242G>C	11.37:g.15098849G>C	ENSP00000433490:p.Arg81Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Procalcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep	p.R81T	ENST00000533448.1	37	c.242	CCDS7820.1	11	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667123	0.88251	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.26373	1.74;1.74;1.74	4.87	4.87	0.63330	Calcitonin peptide-like (1);	0.116233	0.39834	N	0.001258	T	0.61464	0.2349	M	0.91140	3.18	0.41493	D	0.988238	D	0.89917	1.0	D	0.87578	0.998	T	0.72821	-0.4177	10	0.87932	D	0	-8.4969	18.3705	0.90405	0.0:0.0:1.0:0.0	.	81	P10092	CALCB_HUMAN	T	92;81;81	ENSP00000428882:R92T;ENSP00000346017:R81T;ENSP00000433490:R81T	ENSP00000346017:R81T	R	+	2	0	CALCB	15055425	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.406000	0.97321	2.390000	0.81377	0.462000	0.41574	AGA	CALCB	-	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep		0.542	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CALCB	HGNC	protein_coding	OTTHUMT00000387433.1	G	NM_000728		15098849	+1	no_errors	ENST00000324229	ensembl	human	known	70_37	missense	SNP	1.000	C
CALCOCO1	57658	genome.wustl.edu	37	12	54118528	54118528	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:54118528C>T	ENST00000550804.1	-	3	220	c.160G>A	c.(160-162)Gag>Aag	p.E54K	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.E54K|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.E54K|CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.E54K			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	54	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CAGGCAGCCTCCACCTGTGAA	0.517																																																	0													48.0	40.0	43.0					12																	54118528		2203	4300	6503	SO:0001583	missense	57658			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.160G>A	12.37:g.54118528C>T	ENSP00000449960:p.Glu54Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	pfam_CoCoA	p.E54K	ENST00000550804.1	37	c.160	CCDS8864.1	12	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906239	0.72868	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000551900;ENST00000546619;ENST00000547949;ENST00000553154;ENST00000549784;ENST00000549173;ENST00000548177;ENST00000552623;ENST00000549349;ENST00000549688;ENST00000547885;ENST00000548431	T;T;T;T;T;T;T;T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83	5.53	5.53	0.82687	.	0.000000	0.42964	D	0.000627	T	0.20577	0.0495	N	0.22421	0.69	0.45390	D	0.998376	P;D;P;D;P	0.63046	0.828;0.992;0.885;0.99;0.906	P;P;B;P;P	0.62885	0.542;0.908;0.406;0.794;0.542	T	0.00926	-1.1512	10	0.66056	D	0.02	-20.2859	18.6183	0.91312	0.0:1.0:0.0:0.0	.	54;54;54;54;54	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;Q9P1Z2	.;.;.;.;CACO1_HUMAN	K	54	ENSP00000397189:E54K;ENSP00000262059:E54K;ENSP00000447647:E54K;ENSP00000449960:E54K;ENSP00000450083:E54K;ENSP00000448621:E54K;ENSP00000447117:E54K;ENSP00000449058:E54K;ENSP00000446820:E54K;ENSP00000448026:E54K;ENSP00000450012:E54K;ENSP00000449796:E54K	ENSP00000262059:E54K	E	-	1	0	CALCOCO1	52404795	1.000000	0.71417	0.999000	0.59377	0.118000	0.20060	5.483000	0.66838	2.777000	0.95525	0.655000	0.94253	GAG	CALCOCO1	-	pfam_CoCoA		0.517	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CALCOCO1	HGNC	protein_coding	OTTHUMT00000407233.2	C	NM_020898		54118528	-1	no_errors	ENST00000550804	ensembl	human	known	70_37	missense	SNP	1.000	T
CAMKK1	84254	genome.wustl.edu	37	17	3773109	3773109	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:3773109C>T	ENST00000348335.2	-	13	1346	c.1198G>A	c.(1198-1200)Gtg>Atg	p.V400M	CAMKK1_ENST00000158166.5_Missense_Mutation_p.V438M|CAMKK1_ENST00000381771.2_Missense_Mutation_p.V438M|CAMKK1_ENST00000381769.2_Missense_Mutation_p.V427M	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ATGTCTGGCACCCCAATTCTC	0.557																																																	0													152.0	137.0	142.0					17																	3773109		2203	4300	6503	SO:0001583	missense	84254			AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.1198G>A	17.37:g.3773109C>T	ENSP00000323118:p.Val400Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BQH3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V438M	ENST00000348335.2	37	c.1312	CCDS11038.1	17	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583689	0.28268	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.63	4.65	0.58169	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.192882	0.45361	D	0.000377	T	0.39835	0.1093	N	0.16368	0.405	0.45403	D	0.998385	P;P	0.36599	0.504;0.56	P;P	0.46208	0.458;0.507	T	0.12243	-1.0555	10	0.25751	T	0.34	-27.3828	12.856	0.57886	0.0:0.9208:0.0:0.0792	.	438;400	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	M	427;400;438;438	ENSP00000371188:V427M;ENSP00000323118:V400M;ENSP00000371190:V438M;ENSP00000158166:V438M	ENSP00000158166:V438M	V	-	1	0	CAMKK1	3719858	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	2.692000	0.47018	2.826000	0.97356	0.655000	0.94253	GTG	CAMKK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.557	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKK1	HGNC	protein_coding	OTTHUMT00000207456.1	C	NM_032294, NM_172206, NM_172207		3773109	-1	no_errors	ENST00000381771	ensembl	human	known	70_37	missense	SNP	1.000	T
CAMSAP2	23271	genome.wustl.edu	37	1	200818904	200818904	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:200818904C>T	ENST00000236925.4	+	12	3089	c.3040C>T	c.(3040-3042)Cgg>Tgg	p.R1014W	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.R1003W|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.R987W			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1014					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TAGCCTTCCTCGGTTAAGGAG	0.403																																																	0													111.0	116.0	114.0					1																	200818904		2203	4300	6503	SO:0001583	missense	23271			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3040C>T	1.37:g.200818904C>T	ENSP00000236925:p.Arg1014Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.R1014W	ENST00000236925.4	37	c.3040		1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410504	0.62399	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.18016	2.26;2.24;2.26	5.92	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.989;0.999	T	0.32052	-0.9921	10	0.72032	D	0.01	-22.5801	16.2156	0.82211	0.1409:0.8591:0.0:0.0	.	987;1014;1003	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	W	1003;987;1014	ENSP00000351684:R1003W;ENSP00000416800:R987W;ENSP00000236925:R1014W	ENSP00000236925:R1014W	R	+	1	2	CAMSAP1L1	199085527	0.992000	0.36948	0.962000	0.40283	0.959000	0.62525	2.623000	0.46435	1.469000	0.48083	0.655000	0.94253	CGG	CAMSAP2	-	NULL		0.403	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	C	NM_203459		200818904	+1	no_errors	ENST00000236925	ensembl	human	known	70_37	missense	SNP	0.999	T
CAMTA2	23125	genome.wustl.edu	37	17	4883075	4883075	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:4883075G>A	ENST00000348066.3	-	9	1665	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	CAMTA2_ENST00000572543.1_Silent_p.I519I|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000361571.5_Silent_p.I513I|CAMTA2_ENST00000358183.4_Silent_p.I514I|CAMTA2_ENST00000414043.3_Silent_p.I537I|CAMTA2_ENST00000381311.5_Silent_p.I516I	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	514					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTTCGTCACTGATGAGTTCTC	0.562																																																	0													138.0	135.0	136.0					17																	4883075		2203	4300	6503	SO:0001819	synonymous_variant	23125			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1542C>T	17.37:g.4883075G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Silent	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.I537	ENST00000348066.3	37	c.1611	CCDS11063.1	17																																																																																			CAMTA2	-	NULL		0.562	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA2	HGNC	protein_coding	OTTHUMT00000216876.1	G	NM_015099		4883075	-1	no_errors	ENST00000414043	ensembl	human	known	70_37	silent	SNP	1.000	A
CAND2	23066	genome.wustl.edu	37	3	12856710	12856710	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:12856710C>T	ENST00000456430.2	+	8	1118	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	CAND2_ENST00000295989.5_Silent_p.I266I	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	359					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCAAGTGCATCGCAGCCTTGA	0.602																																					GBM(43;676 868 1633 6395 37496)												0													56.0	64.0	61.0					3																	12856710		2150	4251	6401	SO:0001819	synonymous_variant	23066				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1077C>T	3.37:g.12856710C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGM9|E9KL24	Silent	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.I359	ENST00000456430.2	37	c.1077	CCDS54554.1	3																																																																																			CAND2	-	superfamily_ARM-type_fold		0.602	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND2	HGNC	protein_coding	OTTHUMT00000339856.4	C	XM_371617		12856710	+1	no_errors	ENST00000456430	ensembl	human	known	70_37	silent	SNP	0.999	T
CANX	821	genome.wustl.edu	37	5	179149866	179149866	+	Missense_Mutation	SNP	G	G	A	rs149513016	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:179149866G>A	ENST00000247461.4	+	11	1444	c.1244G>A	c.(1243-1245)aGa>aAa	p.R415K	CANX_ENST00000415618.2_Missense_Mutation_p.R450K|CANX_ENST00000504734.1_Missense_Mutation_p.R415K|CANX_ENST00000452673.2_Missense_Mutation_p.R415K|CANX_ENST00000512607.2_Missense_Mutation_p.R307K	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	415					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	GAACCTTTCAGAATGACTCCT	0.348																																																	0													108.0	111.0	110.0					5																	179149866		2203	4300	6503	SO:0001583	missense	821			L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1244G>A	5.37:g.179149866G>A	ENSP00000247461:p.Arg415Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex	p.R450K	ENST00000247461.4	37	c.1349	CCDS4447.1	5	.	.	.	.	.	.	.	.	.	.	G	2.608	-0.291360	0.05568	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000512607	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.64	-4.8	0.03190	Concanavalin A-like lectin/glucanase (1);	0.411149	0.26193	N	0.025794	T	0.20088	0.0483	N	0.10916	0.065	0.20926	N	0.999822	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.33266	-0.9875	10	0.02654	T	1	-5.5875	14.4475	0.67361	0.4492:0.0:0.5508:0.0	.	450;415	B4DGP8;P27824	.;CALX_HUMAN	K	415;450;415;415;307	ENSP00000424063:R415K;ENSP00000394817:R450K;ENSP00000391646:R415K;ENSP00000247461:R415K;ENSP00000423588:R307K	ENSP00000247461:R415K	R	+	2	0	CANX	179082472	0.733000	0.28132	0.640000	0.29408	0.628000	0.37860	0.255000	0.18333	-0.778000	0.04566	-0.355000	0.07637	AGA	CANX	-	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf		0.348	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CANX	HGNC	protein_coding	OTTHUMT00000253500.2	G	NM_001024649		179149866	+1	no_errors	ENST00000415618	ensembl	human	known	70_37	missense	SNP	0.317	A
CAPN1	823	genome.wustl.edu	37	11	64974261	64974261	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:64974261G>A	ENST00000527323.1	+	13	1816	c.1576G>A	c.(1576-1578)Gac>Aac	p.D526N	CAPN1_ENST00000279247.6_Missense_Mutation_p.D526N|CAPN1_ENST00000533820.1_Missense_Mutation_p.D526N|CAPN1_ENST00000533129.1_Missense_Mutation_p.D526N|CAPN1_ENST00000524773.1_Missense_Mutation_p.D526N			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	526	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GGAGCTGGATGACCAGATCCA	0.667																																																	0													37.0	42.0	40.0					11																	64974261		1990	4151	6141	SO:0001583	missense	823			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1576G>A	11.37:g.64974261G>A	ENSP00000431984:p.Asp526Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TTR0|Q6DHV4	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D526N	ENST00000527323.1	37	c.1576	CCDS44644.1	11	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578379	0.65878	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58	5.29	4.32	0.51571	Peptidase C2, calpain, large subunit, domain III (1);	0.589262	0.16576	N	0.208399	D	0.87188	0.6115	L	0.61218	1.895	0.50467	D	0.999878	P	0.41188	0.741	B	0.42522	0.39	D	0.83602	0.0129	10	0.19147	T	0.46	.	12.3969	0.55391	0.0:0.0:0.8311:0.1689	.	526	P07384	CAN1_HUMAN	N	526;526;526;526;472;526	ENSP00000435272:D526N;ENSP00000431686:D526N;ENSP00000434176:D526N;ENSP00000279247:D526N;ENSP00000431984:D526N	ENSP00000259755:D472N	D	+	1	0	CAPN1	64730837	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.454000	0.90352	2.458000	0.83093	0.563000	0.77884	GAC	CAPN1	-	superfamily_Calpain_domain_III		0.667	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	G			64974261	+1	no_errors	ENST00000279247	ensembl	human	known	70_37	missense	SNP	1.000	A
CAPN14	440854	genome.wustl.edu	37	2	31423341	31423341	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:31423341G>C	ENST00000403897.3	-	6	843	c.702C>G	c.(700-702)ctC>ctG	p.L234L	CAPN14_ENST00000444918.2_Silent_p.L234L	NM_001145122.1	NP_001138594.1	A8MX76	CAN14_HUMAN	calpain 14	234	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|endometrium(2)|prostate(1)|skin(1)|stomach(2)	7						GGCAGCCAATGAGGGTTCTGT	0.572																																																	0													63.0	61.0	62.0					2																	31423341		692	1591	2283	SO:0001819	synonymous_variant	440854			AC015980	CCDS46254.1	2p23.1-p21	2013-01-10			ENSG00000214711	ENSG00000214711		"""EF-hand domain containing"""	16664	protein-coding gene	gene with protein product		610229				11675017	Standard	NM_001145122		Approved		uc010yms.2	A8MX76	OTTHUMG00000152039	ENST00000403897.3:c.702C>G	2.37:g.31423341G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRU9	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L234	ENST00000403897.3	37	c.702	CCDS46254.1	2																																																																																			CAPN14	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.572	CAPN14-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CAPN14	HGNC	protein_coding	OTTHUMT00000325010.1	G	NM_001145122		31423341	-1	no_errors	ENST00000444918	ensembl	human	known	70_37	silent	SNP	0.995	C
CAPS2	84698	genome.wustl.edu	37	12	75678767	75678767	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:75678767C>G	ENST00000409445.3	-	16	1742	c.1546G>C	c.(1546-1548)Gaa>Caa	p.E516Q	CAPS2_ENST00000409799.1_Missense_Mutation_p.E434Q|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000393284.3_Missense_Mutation_p.E284Q|CAPS2_ENST00000442339.2_Missense_Mutation_p.E106Q	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	516	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TTCCTGTATTCATTCATTTCA	0.299																																																	0													118.0	105.0	110.0					12																	75678767		2203	4300	6503	SO:0001583	missense	84698			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1546G>C	12.37:g.75678767C>G	ENSP00000386959:p.Glu516Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E516Q	ENST00000409445.3	37	c.1546	CCDS9008.2	12	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277389	0.80580	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284;ENST00000442339	T;T;T;T	0.27890	1.75;1.64;1.78;1.8	5.53	5.53	0.82687	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.60314	0.2259	M	0.80183	2.485	0.58432	D	0.999998	B;P;D;P;P	0.89917	0.402;0.843;1.0;0.863;0.593	B;B;D;P;P	0.87578	0.119;0.426;0.998;0.576;0.476	T	0.58306	-0.7659	10	0.40728	T	0.16	-25.474	19.8389	0.96675	0.0:1.0:0.0:0.0	.	106;284;252;516;434	A2RRN2;Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;.;CAYP2_HUMAN;.	Q	434;516;252;284;106	ENSP00000386977:E434Q;ENSP00000386959:E516Q;ENSP00000376963:E284Q;ENSP00000389633:E106Q	ENSP00000367975:E252Q	E	-	1	0	CAPS2	73965034	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.510000	0.67018	2.755000	0.94549	0.650000	0.86243	GAA	CAPS2	-	pfscan_EF_HAND_2		0.299	CAPS2-001	KNOWN	basic|CCDS	protein_coding	CAPS2	HGNC	protein_coding	OTTHUMT00000327880.2	C			75678767	-1	no_errors	ENST00000409445	ensembl	human	known	70_37	missense	SNP	1.000	G
CARS	833	genome.wustl.edu	37	11	3050644	3050644	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:3050644G>C	ENST00000397111.5	-	7	827	c.582C>G	c.(580-582)ctC>ctG	p.L194L	CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000380525.4_Silent_p.L277L|CARS_ENST00000401769.3_Silent_p.L207L|CARS_ENST00000278224.9_Silent_p.L194L|CARS_ENST00000397114.3_Silent_p.L184L			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	194					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GCCAGTCAGAGAGCAAATCCT	0.507			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													72.0	74.0	73.0					11																	3050644		2202	4298	6500	SO:0001819	synonymous_variant	833			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.582C>G	11.37:g.3050644G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Silent	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.L277	ENST00000397111.5	37	c.831	CCDS7742.1	11																																																																																			CARS	-	pfam_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase		0.507	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	G	NM_001751		3050644	-1	no_errors	ENST00000380525	ensembl	human	known	70_37	silent	SNP	0.541	C
CASC3	22794	genome.wustl.edu	37	17	38318312	38318312	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:38318312G>A	ENST00000264645.7	+	5	740	c.514G>A	c.(514-516)Gat>Aat	p.D172N		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	172	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCATTTGGATGATGATGAAGA	0.473																																																	0													87.0	88.0	88.0					17																	38318312		2203	4300	6503	SO:0001583	missense	22794			X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.514G>A	17.37:g.38318312G>A	ENSP00000264645:p.Asp172Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8R0	Missense_Mutation	SNP	pfam_Btz_dom	p.D172N	ENST00000264645.7	37	c.514	CCDS11362.1	17	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726098	0.69074	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.9	5.9	0.94986	CASC3/Barentsz eIF4AIII binding (1);	0.000000	0.85682	D	0.000000	T	0.80138	0.4568	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	T	0.80656	-0.1285	9	0.66056	D	0.02	-21.1968	19.0469	0.93025	0.0:0.0:1.0:0.0	.	172;172	B4DKR6;O15234	.;CASC3_HUMAN	N	172	.	ENSP00000264645:D172N	D	+	1	0	CASC3	35571838	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.688000	0.84153	2.793000	0.96121	0.609000	0.83330	GAT	CASC3	-	pfam_Btz_dom		0.473	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC3	HGNC	protein_coding	OTTHUMT00000257127.3	G	NM_007359		38318312	+1	no_errors	ENST00000264645	ensembl	human	known	70_37	missense	SNP	1.000	A
CASKIN1	57524	genome.wustl.edu	37	16	2239141	2239141	+	Silent	SNP	G	G	A	rs368229690		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2239141G>A	ENST00000343516.6	-	6	596	c.504C>T	c.(502-504)ctC>ctT	p.L168L		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	168					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TATTGCTGCTGAGGAGCAGCT	0.672																																																	0								G		0,3930		0,0,1965	36.0	41.0	39.0		504	-6.9	0.6	16		39	2,8256		0,2,4127	no	coding-synonymous	CASKIN1	NM_020764.3		0,2,6092	AA,AG,GG		0.0242,0.0,0.0164		168/1432	2239141	2,12186	1965	4129	6094	SO:0001819	synonymous_variant	57524			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.504C>T	16.37:g.2239141G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9P2P0	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain	p.L168	ENST00000343516.6	37	c.504	CCDS42103.1	16																																																																																			CASKIN1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.672	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN1	HGNC	protein_coding	OTTHUMT00000435055.1	G	NM_020764		2239141	-1	no_errors	ENST00000343516	ensembl	human	known	70_37	silent	SNP	0.984	A
CASP3	836	genome.wustl.edu	37	4	185552278	185552278	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:185552278C>G	ENST00000308394.4	-	7	779	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	CASP3_ENST00000393588.4_Intron|CASP3_ENST00000523916.1_Missense_Mutation_p.E173Q|CASP3_ENST00000393585.2_Intron|CASP3_ENST00000517513.1_Intron	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	173					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	CTGTCTGTCTCAATGCCACAG	0.413																																																	0													100.0	87.0	91.0					4																	185552278		2203	4300	6503	SO:0001583	missense	836			BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"""Caspases"""	1504	protein-coding gene	gene with protein product		600636	"""caspase 3, apoptosis-related cysteine protease"""			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.517G>C	4.37:g.185552278C>G	ENSP00000311032:p.Glu173Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5M2|D3DP53|Q96AN1|Q96KP2	Missense_Mutation	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.E173Q	ENST00000308394.4	37	c.517	CCDS3836.1	4	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340934	0.60963	.	.	ENSG00000164305	ENST00000308394;ENST00000523916	T;T	0.21361	2.01;2.01	5.7	5.7	0.88788	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.044485	0.85682	D	0.000000	T	0.28433	0.0703	M	0.79011	2.435	0.80722	D	1	P	0.37352	0.591	B	0.33690	0.168	T	0.09707	-1.0662	10	0.19147	T	0.46	.	19.8336	0.96646	0.0:1.0:0.0:0.0	.	173	P42574	CASP3_HUMAN	Q	173	ENSP00000311032:E173Q;ENSP00000428929:E173Q	ENSP00000311032:E173Q	E	-	1	0	CASP3	185789272	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	4.919000	0.63383	2.701000	0.92244	0.561000	0.74099	GAG	CASP3	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core		0.413	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP3	HGNC	protein_coding	OTTHUMT00000257885.2	C	NM_004346		185552278	-1	no_errors	ENST00000308394	ensembl	human	known	70_37	missense	SNP	1.000	G
CASP8AP2	9994	genome.wustl.edu	37	6	90578203	90578203	+	RNA	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:90578203G>C	ENST00000551025.1	+	0	6631									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTTGCAGGCTGATACTGTAGG	0.383																																					Colon(187;1656 2025 17045 31481 39901)												0													85.0	78.0	80.0					6																	90578203		1881	4109	5990			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90578203G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-		0.383	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		G	NM_001137667		90578203	+1	no_errors	ENST00000237177	ensembl	human	known	70_37	rna	SNP	0.131	C
CASR	846	genome.wustl.edu	37	3	121980728	121980728	+	Missense_Mutation	SNP	G	G	C	rs199729084		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:121980728G>C	ENST00000490131.1	+	4	1218	c.846G>C	c.(844-846)gaG>gaC	p.E282D	CASR_ENST00000498619.1_Missense_Mutation_p.E282D|CASR_ENST00000296154.5_Missense_Mutation_p.E282D	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	282					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCATCAAGGAGATTGTCCGGC	0.567																																																	0													66.0	69.0	68.0					3																	121980728		2203	4300	6503	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.846G>C	3.37:g.121980728G>C	ENSP00000418685:p.Glu282Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3	p.E282D	ENST00000490131.1	37	c.846	CCDS3010.1	3	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676722	0.67928	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.83506	-1.73;-1.73;-1.73	6.17	2.43	0.29744	Extracellular ligand-binding receptor (1);	0.085232	0.85682	D	0.000000	D	0.90031	0.6887	M	0.82823	2.61	0.51767	D	0.999939	D;P	0.69078	0.997;0.928	D;P	0.79108	0.992;0.506	D	0.89477	0.3747	10	0.66056	D	0.02	.	10.9639	0.47401	0.2544:0.0:0.7456:0.0	.	282;282	E7ENE0;P41180	.;CASR_HUMAN	D	282	ENSP00000418685:E282D;ENSP00000420194:E282D;ENSP00000296154:E282D	ENSP00000296154:E282D	E	+	3	2	CASR	123463418	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	2.453000	0.44970	0.500000	0.27991	-0.126000	0.14955	GAG	CASR	-	pfam_ANF_lig-bd_rcpt		0.567	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	HGNC	protein_coding	OTTHUMT00000355761.1	G	NM_000388		121980728	+1	no_errors	ENST00000498619	ensembl	human	known	70_37	missense	SNP	1.000	C
CASR	846	genome.wustl.edu	37	3	121980771	121980771	+	Missense_Mutation	SNP	G	G	A	rs121909259		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:121980771G>A	ENST00000490131.1	+	4	1261	c.889G>A	c.(889-891)Gag>Aag	p.E297K	CASR_ENST00000498619.1_Missense_Mutation_p.E297K|CASR_ENST00000296154.5_Missense_Mutation_p.E297K	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	297			E -> K (in HHC1 and NSHPT). {ECO:0000269|PubMed:7916660}.		anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCTGGCCAGCGAGGCCTGGGC	0.597																																																	0			GRCh37	CM930078	CASR	M	rs121909259						57.0	54.0	55.0					3																	121980771		2202	4300	6502	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.889G>A	3.37:g.121980771G>A	ENSP00000418685:p.Glu297Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3	p.E297K	ENST00000490131.1	37	c.889	CCDS3010.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.363286	0.95877	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87103	-2.21;-2.21;-2.21	5.87	5.87	0.94306	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.95046	0.8396	M	0.90369	3.11	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	D	0.95137	0.8260	9	0.87932	D	0	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	297;297	E7ENE0;P41180	.;CASR_HUMAN	K	297	ENSP00000418685:E297K;ENSP00000420194:E297K;ENSP00000296154:E297K	ENSP00000296154:E297K	E	+	1	0	CASR	123463461	1.000000	0.71417	0.979000	0.43373	0.975000	0.68041	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAG	CASR	-	pfam_ANF_lig-bd_rcpt		0.597	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	HGNC	protein_coding	OTTHUMT00000355761.1	G	NM_000388		121980771	+1	no_errors	ENST00000498619	ensembl	human	known	70_37	missense	SNP	1.000	A
CASR	846	genome.wustl.edu	37	3	122003100	122003100	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:122003100G>A	ENST00000490131.1	+	7	2671	c.2299G>A	c.(2299-2301)Gag>Aag	p.E767K	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.E777K|CASR_ENST00000296154.5_Missense_Mutation_p.E767K	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	767			E -> K (in HYPOC1). {ECO:0000269|PubMed:15551332}.		anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CACGTGCCACGAGGGCTCCCT	0.587																																																	0			GRCh37	CM050191	CASR	M							51.0	47.0	49.0					3																	122003100		2203	4300	6503	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2299G>A	3.37:g.122003100G>A	ENSP00000418685:p.Glu767Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3	p.E777K	ENST00000490131.1	37	c.2329	CCDS3010.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613836	0.87359	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87966	-2.32;-2.32;-2.32	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.042301	0.85682	D	0.000000	D	0.90055	0.6894	N	0.26162	0.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.952	D	0.90408	0.4407	10	0.56958	D	0.05	.	19.3162	0.94215	0.0:0.0:1.0:0.0	.	777;767	E7ENE0;P41180	.;CASR_HUMAN	K	767;777;767	ENSP00000418685:E767K;ENSP00000420194:E777K;ENSP00000296154:E767K	ENSP00000296154:E767K	E	+	1	0	CASR	123485790	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.864000	0.99589	2.802000	0.96397	0.561000	0.74099	GAG	CASR	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.587	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	HGNC	protein_coding	OTTHUMT00000355761.1	G	NM_000388		122003100	+1	no_errors	ENST00000498619	ensembl	human	known	70_37	missense	SNP	1.000	A
PDIA3	2923	genome.wustl.edu	37	15	44038951	44038951	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:44038951G>C	ENST00000300289.5	+	1	315				CATSPER2P1_ENST00000381680.2_RNA|PDIA3_ENST00000469684.1_Intron|PDIA3_ENST00000538521.1_Intron	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GGGCTGGGCCGGGGGCGAGAG	0.692																																																	0													11.0	13.0	12.0					15																	44038951		1929	3767	5696	SO:0001627	intron_variant	440278				CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.167+47G>C	15.37:g.44038951G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13453|Q14255|Q8IYF8|Q9UMU7	RNA	SNP	-	NULL	ENST00000300289.5	37	NULL	CCDS10101.1	15																																																																																			CATSPER2P1	-	-		0.692	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER2P1	HGNC	protein_coding	OTTHUMT00000103532.3	G	NM_005313		44038951	-1	no_errors	ENST00000429276	ensembl	human	known	70_37	rna	SNP	0.350	C
CATSPERG	57828	genome.wustl.edu	37	19	38857940	38857940	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:38857940C>G	ENST00000409235.3	+	23	2873	c.2758C>G	c.(2758-2760)Ctc>Gtc	p.L920V	CATSPERG_ENST00000410018.1_Missense_Mutation_p.L880V|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	920					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GCCCTGCTTTCTCTTCCGGGA	0.577																																																	0													128.0	102.0	111.0					19																	38857940		2203	4300	6503	SO:0001583	missense	57828			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2758C>G	19.37:g.38857940C>G	ENSP00000386962:p.Leu920Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEG6|Q659E1	Missense_Mutation	SNP	NULL	p.L920V	ENST00000409235.3	37	c.2758	CCDS12514.2	19	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940687	0.52972	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.34275	1.37;1.37	4.4	1.8	0.24995	.	0.375160	0.17877	N	0.158985	T	0.35682	0.0940	M	0.68952	2.095	0.80722	D	1	D;P	0.56035	0.974;0.884	P;B	0.44732	0.459;0.41	T	0.22068	-1.0227	10	0.51188	T	0.08	-25.0666	7.1134	0.25403	0.0:0.7416:0.0:0.2584	.	920;880	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	V	880;920;920	ENSP00000387057:L880V;ENSP00000386962:L920V	ENSP00000386962:L920V	L	+	1	0	CATSPERG	43549780	0.998000	0.40836	0.997000	0.53966	0.815000	0.46073	1.116000	0.31221	0.825000	0.34637	0.491000	0.48974	CTC	CATSPERG	-	NULL		0.577	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPERG	HGNC	protein_coding	OTTHUMT00000330204.1	C	NM_021185		38857940	+1	no_errors	ENST00000409235	ensembl	human	known	70_37	missense	SNP	0.995	G
CBFA2T2	9139	genome.wustl.edu	37	20	32217720	32217720	+	Splice_Site	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:32217720G>A	ENST00000346541.3	+	9	1792	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	CBFA2T2_ENST00000492345.1_Splice_Site_p.D390N|CBFA2T2_ENST00000375279.2_Splice_Site_p.D419N|CBFA2T2_ENST00000397800.1_Splice_Site_p.D390N|CBFA2T2_ENST00000342704.6_Splice_Site_p.D410N|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000359606.3_Splice_Site_p.D429N	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	419					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TCTCAGCAATGGTAAGGGGAG	0.488																																					Esophageal Squamous(174;142 1955 14837 21276 28041)												0													43.0	42.0	43.0					20																	32217720		2203	4300	6503	SO:0001630	splice_region_variant	9139			AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1255+1G>A	20.37:g.32217720G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1	p.D419N	ENST00000346541.3	37	c.1255	CCDS13221.1	20	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362293	0.82353	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.9;1.49	5.73	5.73	0.89815	.	0.044987	0.85682	D	0.000000	T	0.43366	0.1244	L	0.49126	1.545	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.09377	0.002;0.004	T	0.21621	-1.0240	10	0.52906	T	0.07	-19.569	20.2699	0.98469	0.0:0.0:1.0:0.0	.	419;410	O43439;F8W6D7	MTG8R_HUMAN;.	N	193;419;410;419;390;429	ENSP00000364428:D419N;ENSP00000345810:D410N;ENSP00000262653:D419N;ENSP00000380902:D390N;ENSP00000352622:D429N	ENSP00000345810:D410N	D	+	1	0	CBFA2T2	31681381	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.744000	0.85034	2.854000	0.98071	0.655000	0.94253	GAT	CBFA2T2	-	prints_MTGR1		0.488	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	CBFA2T2	HGNC	protein_coding	OTTHUMT00000078708.2	G	NM_001032999	Missense_Mutation	32217720	+1	no_errors	ENST00000346541	ensembl	human	known	70_37	missense	SNP	1.000	A
CBFA2T2	9139	genome.wustl.edu	37	20	32224462	32224462	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:32224462C>T	ENST00000346541.3	+	10	1809	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	CBFA2T2_ENST00000492345.1_Silent_p.F395F|CBFA2T2_ENST00000375279.2_Silent_p.F424F|CBFA2T2_ENST00000397800.1_Silent_p.F395F|CBFA2T2_ENST00000342704.6_Silent_p.F415F|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000359606.3_Silent_p.F434F|CBFA2T2_ENST00000543126.1_5'Flank	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	424					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AGAGAGAGTTCAACAGCAGGC	0.413																																					Esophageal Squamous(174;142 1955 14837 21276 28041)												0													156.0	149.0	151.0					20																	32224462		2203	4300	6503	SO:0001819	synonymous_variant	9139			AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1272C>T	20.37:g.32224462C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1	p.F424	ENST00000346541.3	37	c.1272	CCDS13221.1	20																																																																																			CBFA2T2	-	NULL		0.413	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	CBFA2T2	HGNC	protein_coding	OTTHUMT00000078708.2	C	NM_001032999		32224462	+1	no_errors	ENST00000346541	ensembl	human	known	70_37	silent	SNP	0.949	T
CBR4	84869	genome.wustl.edu	37	4	169911336	169911336	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:169911336G>C	ENST00000306193.3	-	5	847	c.679C>G	c.(679-681)Ctg>Gtg	p.L227V	CBR4_ENST00000509108.1_Intron	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	227					daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|fatty acid biosynthetic process (GO:0006633)|protein homotetramerization (GO:0051289)	mitochondrial matrix (GO:0005759)	NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|NADPH binding (GO:0070402)|NADPH dehydrogenase (quinone) activity (GO:0008753)|quinone binding (GO:0048038)			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		TCCACTACCAGAACATGCCCT	0.393																																																	0													120.0	116.0	118.0					4																	169911336		2203	4300	6503	SO:0001583	missense	84869			BC021973	CCDS3812.1	4q32.3	2013-10-11			ENSG00000145439	ENSG00000145439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	25891	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 45C, member 1"""					19027726	Standard	NM_032783		Approved	FLJ14431, SDR45C1	uc003iry.3	Q8N4T8	OTTHUMG00000161025	ENST00000306193.3:c.679C>G	4.37:g.169911336G>C	ENSP00000303525:p.Leu227Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WTW8|Q96K93	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.L227V	ENST00000306193.3	37	c.679	CCDS3812.1	4	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150514	0.37923	.	.	ENSG00000145439	ENST00000306193	D	0.87887	-2.31	5.46	4.58	0.56647	NAD(P)-binding domain (1);	0.147077	0.46758	D	0.000268	T	0.79028	0.4377	N	0.12887	0.27	0.80722	D	1	D	0.59357	0.985	P	0.49528	0.614	T	0.76252	-0.3027	9	.	.	.	.	9.0711	0.36493	0.1762:0.0:0.8238:0.0	.	227	Q8N4T8	CBR4_HUMAN	V	227	ENSP00000303525:L227V	.	L	-	1	2	CBR4	170147911	1.000000	0.71417	0.198000	0.23420	0.031000	0.12232	2.046000	0.41260	1.229000	0.43630	0.557000	0.71058	CTG	CBR4	-	NULL		0.393	CBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBR4	HGNC	protein_coding	OTTHUMT00000363441.2	G	NM_032783		169911336	-1	no_errors	ENST00000306193	ensembl	human	known	70_37	missense	SNP	1.000	C
CBWD1	55871	genome.wustl.edu	37	9	121487	121487	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:121487C>T	ENST00000356521.4	-	15	1256	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	CBWD1_ENST00000382447.4_Missense_Mutation_p.E371K|CBWD1_ENST00000377400.4_Missense_Mutation_p.E342K|CBWD1_ENST00000475411.1_5'Flank|CBWD1_ENST00000314367.10_Missense_Mutation_p.E354K	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	390							ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		ACTTGATCTTCTTGGAAACGT	0.318																																																	0													360.0	363.0	362.0					9																	121487		2203	4300	6503	SO:0001583	missense	55871			AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.1168G>A	9.37:g.121487C>T	ENSP00000348915:p.Glu390Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Missense_Mutation	SNP	pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C	p.E390K	ENST00000356521.4	37	c.1168	CCDS6438.1	9	.	.	.	.	.	.	.	.	.	.	.	14.02	2.411330	0.42817	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367	T;T;T;T	0.09445	3.14;3.05;3.14;2.98	3.08	3.08	0.35506	.	0.358013	0.22609	N	0.057850	T	0.08626	0.0214	L	0.34521	1.04	0.26890	N	0.967348	P;P;B	0.47910	0.902;0.544;0.245	B;B;B	0.40101	0.319;0.2;0.073	T	0.15954	-1.0419	10	0.72032	D	0.01	-52.918	9.837	0.40975	0.0:1.0:0.0:0.0	.	371;354;390	Q9BRT8-3;Q9BRT8-2;Q9BRT8	.;.;CBWD1_HUMAN	K	390;342;371;354	ENSP00000348915:E390K;ENSP00000366617:E342K;ENSP00000371885:E371K;ENSP00000323433:E354K	ENSP00000323433:E354K	E	-	1	0	CBWD1	111487	1.000000	0.71417	0.362000	0.25862	0.248000	0.25809	1.222000	0.32515	1.732000	0.51606	0.479000	0.44913	GAA	CBWD1	-	NULL		0.318	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	CBWD1	HGNC	protein_coding	OTTHUMT00000051463.1	C	NM_018491		121487	-1	no_errors	ENST00000356521	ensembl	human	known	70_37	missense	SNP	0.994	T
CCDC125	202243	genome.wustl.edu	37	5	68578572	68578572	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:68578572G>C	ENST00000396496.2	-	12	1627	c.1520C>G	c.(1519-1521)tCa>tGa	p.S507*	CCDC125_ENST00000511257.1_Nonsense_Mutation_p.S382*|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Nonsense_Mutation_p.S507*|CCDC125_ENST00000383374.2_3'UTR			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	507						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TATGATACTTGATGGCAAAGA	0.333																																																	0													70.0	77.0	74.0					5																	68578572		2203	4299	6502	SO:0001587	stop_gained	202243			AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.1520C>G	5.37:g.68578572G>C	ENSP00000379754:p.Ser507*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86Z19	Nonsense_Mutation	SNP	NULL	p.S507*	ENST00000396496.2	37	c.1520	CCDS4000.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.098025	0.97281	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000511257	.	.	.	5.07	4.19	0.49359	.	0.498482	0.16903	N	0.194825	.	.	.	.	.	.	0.32757	N	0.505621	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.0278	12.8062	0.57616	0.0:0.1649:0.8351:0.0	.	.	.	.	X	507;507;382	.	ENSP00000379754:S507X	S	-	2	0	CCDC125	68614328	1.000000	0.71417	0.937000	0.37676	0.719000	0.41307	4.027000	0.57239	1.324000	0.45282	0.650000	0.86243	TCA	CCDC125	-	NULL		0.333	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC125	HGNC	protein_coding	OTTHUMT00000254027.4	G	NM_176816		68578572	-1	no_errors	ENST00000396496	ensembl	human	known	70_37	nonsense	SNP	0.988	C
CCDC129	223075	genome.wustl.edu	37	7	31614227	31614227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:31614227G>T	ENST00000407970.3	+	7	507	c.469G>T	c.(469-471)Gag>Tag	p.E157*	CCDC129_ENST00000451887.2_Nonsense_Mutation_p.E183*|CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000319386.3_Nonsense_Mutation_p.E157*|CCDC129_ENST00000409210.1_Nonsense_Mutation_p.E65*	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	157										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGGTGCTGATGAGCCAGACAT	0.453																																																	0													140.0	147.0	145.0					7																	31614227		2203	4300	6503	SO:0001587	stop_gained	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.469G>T	7.37:g.31614227G>T	ENSP00000384416:p.Glu157*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Nonsense_Mutation	SNP	NULL	p.E183*	ENST00000407970.3	37	c.547	CCDS5435.2	7	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521766	0.64747	.	.	ENSG00000180347	ENST00000456011;ENST00000319386;ENST00000407970;ENST00000454513;ENST00000451887;ENST00000538406;ENST00000409210	.	.	.	5.66	4.78	0.61160	.	0.072287	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.17	14.9667	0.71198	0.0691:0.0:0.9309:0.0	.	.	.	.	X	157;157;157;157;183;167;65	.	.	E	+	1	0	CCDC129	31580752	1.000000	0.71417	0.501000	0.27601	0.709000	0.40893	6.257000	0.72480	1.381000	0.46364	0.563000	0.77884	GAG	CCDC129	-	NULL		0.453	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	HGNC	protein_coding	OTTHUMT00000318975.1	G	NM_194300		31614227	+1	no_errors	ENST00000451887	ensembl	human	known	70_37	nonsense	SNP	0.998	T
CCDC132	55610	genome.wustl.edu	37	7	92905519	92905519	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:92905519C>G	ENST00000305866.5	+	12	972	c.844C>G	c.(844-846)Cac>Gac	p.H282D	CCDC132_ENST00000544910.1_Missense_Mutation_p.H252D|CCDC132_ENST00000251739.5_Missense_Mutation_p.H282D|CCDC132_ENST00000541136.1_Missense_Mutation_p.H93D|CCDC132_ENST00000317751.6_Missense_Mutation_p.H13D|CCDC132_ENST00000535481.1_Intron	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	282						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CCAAGCCATTCACAACACCGT	0.353																																																	0													210.0	186.0	194.0					7																	92905519		2203	4300	6503	SO:0001583	missense	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.844C>G	7.37:g.92905519C>G	ENSP00000307666:p.His282Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C	p.H282D	ENST00000305866.5	37	c.844	CCDS43617.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.105815|4.105815	0.77096|0.77096	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000458707|ENST00000251739;ENST00000305866;ENST00000544910;ENST00000541136;ENST00000317751	.|T;T;T	.|0.49432	.|1.6;1.6;0.78	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Vacuolar protein sorting-associated protein 54 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62380|0.62380	0.2423|0.2423	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.56968	.|0.978;0.975;0.928	.|P;P;P	.|0.60173	.|0.792;0.87;0.719	T|T	0.58945|0.58945	-0.7546|-0.7546	5|10	.|0.39692	.|T	.|0.17	-21.9566|-21.9566	19.3335|19.3335	0.94306|0.94306	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|252;282;282	.|F5H5U7;Q96JG6;Q96JG6-2	.|.;CC132_HUMAN;.	L|D	68|282;282;252;93;13	.|ENSP00000251739:H282D;ENSP00000445766:H93D;ENSP00000325582:H13D	.|ENSP00000251739:H282D	F|H	+|+	3|1	2|0	CCDC132|CCDC132	92743455|92743455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.770000|7.770000	0.85390|0.85390	2.637000|2.637000	0.89404|0.89404	0.650000|0.650000	0.86243|0.86243	TTC|CAC	CCDC132	-	pfam_Vacuolar_sorting-assoc_54		0.353	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC132	HGNC	protein_coding	OTTHUMT00000341687.1	C	NM_017667		92905519	+1	no_errors	ENST00000305866	ensembl	human	known	70_37	missense	SNP	1.000	G
CCDC150	284992	genome.wustl.edu	37	2	197521510	197521510	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:197521510C>G	ENST00000389175.4	+	3	465	c.330C>G	c.(328-330)ctC>ctG	p.L110L	CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_Silent_p.L7L|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	110								p.L110L(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTGAAAGCCTCATGCAGTCCT	0.383																																																	1	Substitution - coding silent(1)	lung(1)											118.0	114.0	115.0					2																	197521510		1855	4103	5958	SO:0001819	synonymous_variant	284992				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.330C>G	2.37:g.197521510C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P5U6|Q6P663|Q8N8V5	Silent	SNP	NULL	p.L110	ENST00000389175.4	37	c.330	CCDS46478.1	2																																																																																			CCDC150	-	NULL		0.383	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	C	NM_001080539		197521510	+1	no_errors	ENST00000389175	ensembl	human	known	70_37	silent	SNP	0.985	G
CCDC18	343099	genome.wustl.edu	37	1	93657578	93657578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:93657578C>T	ENST00000343253.7	+	5	986	c.484C>T	c.(484-486)Caa>Taa	p.Q162*	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Nonsense_Mutation_p.Q280*|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000401026.3_Nonsense_Mutation_p.Q162*			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	162										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGAGTCTGCTCAACAGCAGGC	0.333																																																	0													77.0	74.0	75.0					1																	93657578		1836	4096	5932	SO:0001587	stop_gained	343099					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.484C>T	1.37:g.93657578C>T	ENSP00000343377:p.Gln162*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZU17	Nonsense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.Q280*	ENST00000343253.7	37	c.838		1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671352	0.47781	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479	.	.	.	5.2	3.27	0.37495	.	0.581719	0.15892	N	0.239526	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	7.475	0.27371	0.0:0.587:0.3261:0.0869	.	.	.	.	X	162;162;280	.	ENSP00000343377:Q162X	Q	+	1	0	CCDC18	93430166	1.000000	0.71417	0.999000	0.59377	0.420000	0.31355	0.450000	0.21762	0.552000	0.29026	0.557000	0.71058	CAA	CCDC18	-	NULL		0.333	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000382327.1	C	NM_206886		93657578	+1	no_errors	ENST00000557479	ensembl	human	known	70_37	nonsense	SNP	0.997	T
CCDC36	339834	genome.wustl.edu	37	3	49293632	49293632	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:49293632G>T	ENST00000438782.1	+	8	938	c.702G>T	c.(700-702)caG>caT	p.Q234H	CCDC36_ENST00000296449.5_Missense_Mutation_p.Q234H|CCDC36_ENST00000452691.2_Missense_Mutation_p.Q234H			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	234										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TTGCTCAGCAGAGTCAGGAAT	0.493																																																	0													105.0	106.0	105.0					3																	49293632		2203	4300	6503	SO:0001583	missense	339834			AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.702G>T	3.37:g.49293632G>T	ENSP00000391788:p.Gln234His	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	NULL	p.Q234H	ENST00000438782.1	37	c.702	CCDS33755.2	3	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071284	0.55646	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000309062	T;T;T	0.16597	2.33;2.33;2.33	5.31	5.31	0.75309	.	0.136446	0.35708	N	0.003040	T	0.30634	0.0771	L	0.32530	0.975	0.33257	D	0.559225	D	0.89917	1.0	D	0.74023	0.982	T	0.26395	-1.0104	10	0.87932	D	0	-5.9523	14.3602	0.66766	0.0:0.0:1.0:0.0	.	234	Q8IYA8	CCD36_HUMAN	H	234;234;234;214	ENSP00000296449:Q234H;ENSP00000391788:Q234H;ENSP00000407837:Q234H	ENSP00000296449:Q234H	Q	+	3	2	CCDC36	49268636	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	2.269000	0.43346	2.779000	0.95612	0.591000	0.81541	CAG	CCDC36	-	NULL		0.493	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC36	HGNC	protein_coding	OTTHUMT00000342332.1	G	NM_178173		49293632	+1	no_errors	ENST00000296449	ensembl	human	known	70_37	missense	SNP	1.000	T
CCDC37	348807	genome.wustl.edu	37	3	126138978	126138978	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:126138978C>G	ENST00000352312.1	+	11	1087	c.988C>G	c.(988-990)Ctg>Gtg	p.L330V	CCDC37_ENST00000393425.1_Missense_Mutation_p.L331V|CCDC37_ENST00000505024.1_Missense_Mutation_p.L331V	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	330										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CTGGAGGTTTCTGCAGACGAT	0.642																																																	0													28.0	29.0	29.0					3																	126138978		2202	4300	6502	SO:0001583	missense	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.988C>G	3.37:g.126138978C>G	ENSP00000344749:p.Leu330Val	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	superfamily_SuperAg_toxin_C_Staph/Strep	p.L331V	ENST00000352312.1	37	c.991	CCDS3037.1	3	.	.	.	.	.	.	.	.	.	.	C	4.435	0.080402	0.08533	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.32023	1.47;1.47;1.47	3.37	2.48	0.30137	.	1.680790	0.02928	N	0.138848	T	0.28001	0.0690	L	0.57536	1.79	0.09310	N	1	P;P	0.39022	0.655;0.524	B;B	0.30855	0.121;0.057	T	0.24584	-1.0156	10	0.30078	T	0.28	-0.7395	6.2964	0.21089	0.0:0.863:0.0:0.137	.	331;330	Q494V2-2;Q494V2	.;CCD37_HUMAN	V	330;331;331	ENSP00000344749:L330V;ENSP00000377076:L331V;ENSP00000423046:L331V	ENSP00000344749:L330V	L	+	1	2	CCDC37	127621668	0.001000	0.12720	0.002000	0.10522	0.012000	0.07955	1.130000	0.31393	0.991000	0.38814	0.491000	0.48974	CTG	CCDC37	-	NULL		0.642	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	C	NM_182628		126138978	+1	no_errors	ENST00000393425	ensembl	human	known	70_37	missense	SNP	0.002	G
CCDC37	348807	genome.wustl.edu	37	3	126142171	126142171	+	Silent	SNP	G	G	A	rs376547245		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:126142171G>A	ENST00000352312.1	+	12	1185	c.1086G>A	c.(1084-1086)tcG>tcA	p.S362S	CCDC37_ENST00000393425.1_Silent_p.S363S|CCDC37_ENST00000505024.1_Silent_p.S363S	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	362										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TTCGCAGGTCGAACTCTCCCA	0.642																																																	0								G		0,4406		0,0,2203	43.0	37.0	39.0		1086	-2.7	0.0	3		39	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	CCDC37	NM_182628.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		362/612	126142171	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1086G>A	3.37:g.126142171G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	superfamily_SuperAg_toxin_C_Staph/Strep	p.S363	ENST00000352312.1	37	c.1089	CCDS3037.1	3																																																																																			CCDC37	-	NULL		0.642	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	G	NM_182628		126142171	+1	no_errors	ENST00000393425	ensembl	human	known	70_37	silent	SNP	0.011	A
CCDC38	120935	genome.wustl.edu	37	12	96300167	96300167	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:96300167C>G	ENST00000344280.3	-	5	924	c.367G>C	c.(367-369)Gag>Cag	p.E123Q		NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	123										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTACTACCTCGAGCAGAAAC	0.358																																																	0													77.0	73.0	74.0					12																	96300167		2203	4300	6503	SO:0001583	missense	120935			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.367G>C	12.37:g.96300167C>G	ENSP00000345470:p.Glu123Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N835	Missense_Mutation	SNP	NULL	p.E123Q	ENST00000344280.3	37	c.367	CCDS9056.1	12	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889512	0.33348	.	.	ENSG00000165972	ENST00000344280	T	0.14266	2.52	4.98	4.08	0.47627	.	0.108390	0.64402	N	0.000008	T	0.15046	0.0363	L	0.28344	0.845	0.80722	D	1	P	0.46784	0.884	P	0.56343	0.796	T	0.04090	-1.0978	10	0.02654	T	1	-17.8699	11.1992	0.48730	0.0:0.8149:0.1851:0.0	.	123	Q502W7	CCD38_HUMAN	Q	123	ENSP00000345470:E123Q	ENSP00000345470:E123Q	E	-	1	0	CCDC38	94824298	0.980000	0.34600	0.994000	0.49952	0.921000	0.55340	1.994000	0.40757	1.297000	0.44761	0.561000	0.74099	GAG	CCDC38	-	NULL		0.358	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC38	HGNC	protein_coding	OTTHUMT00000408634.1	C	NM_182496		96300167	-1	no_errors	ENST00000344280	ensembl	human	known	70_37	missense	SNP	0.993	G
CCDC63	160762	genome.wustl.edu	37	12	111318975	111318975	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:111318975C>G	ENST00000308208.5	+	7	970	c.728C>G	c.(727-729)tCt>tGt	p.S243C	CCDC63_ENST00000545036.1_Missense_Mutation_p.S203C|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000552694.1_Missense_Mutation_p.S164C	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	243										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AAGGACACCTCTCAGTACAAC	0.552																																																	0													84.0	70.0	75.0					12																	111318975		2203	4300	6503	SO:0001583	missense	160762			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.728C>G	12.37:g.111318975C>G	ENSP00000312399:p.Ser243Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	NULL	p.S243C	ENST00000308208.5	37	c.728	CCDS9151.1	12	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156877	0.38119	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.22945	1.93;1.93;1.93	4.65	3.74	0.42951	.	0.633406	0.16712	N	0.202658	T	0.20941	0.0504	L	0.40543	1.245	0.27299	N	0.95764	B	0.15473	0.013	B	0.12156	0.007	T	0.08310	-1.0728	10	0.54805	T	0.06	.	9.4927	0.38969	0.0:0.8985:0.0:0.1015	.	243	Q8NA47	CCD63_HUMAN	C	203;243;164	ENSP00000445881:S203C;ENSP00000312399:S243C;ENSP00000450217:S164C	ENSP00000312399:S243C	S	+	2	0	CCDC63	109803358	0.923000	0.31300	0.998000	0.56505	0.981000	0.71138	0.653000	0.24902	2.297000	0.77311	0.505000	0.49811	TCT	CCDC63	-	NULL		0.552	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2	C	NM_152591		111318975	+1	no_errors	ENST00000308208	ensembl	human	known	70_37	missense	SNP	0.994	G
CCDC64	92558	genome.wustl.edu	37	12	120518757	120518757	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:120518757G>A	ENST00000397558.2	+	7	1375	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	CCDC64_ENST00000257583.4_Missense_Mutation_p.E156K|CCDC64_ENST00000446727.2_Missense_Mutation_p.E130K	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	459					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGTCACTTCTGAGGACAAGGA	0.493																																																	0													72.0	80.0	77.0					12																	120518757		2055	4199	6254	SO:0001583	missense	92558			U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1375G>A	12.37:g.120518757G>A	ENSP00000380690:p.Glu459Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	NULL	p.E156K	ENST00000397558.2	37	c.466	CCDS41845.1	12	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399574	0.83120	.	.	ENSG00000135127	ENST00000397558;ENST00000446727;ENST00000548673;ENST00000257583	T;T;T	0.04970	3.56;3.52;3.59	5.32	5.32	0.75619	.	0.173459	0.49916	D	0.000125	T	0.12817	0.0311	L	0.61218	1.895	0.47778	D	0.999512	D;D;P	0.56287	0.957;0.975;0.86	P;P;B	0.48304	0.535;0.573;0.352	T	0.01326	-1.1384	10	0.39692	T	0.17	-10.4332	14.5869	0.68331	0.0:0.1458:0.8542:0.0	.	156;130;459	B4DWL0;B4DNE7;Q6ZP65	.;.;BICR1_HUMAN	K	459;130;177;156	ENSP00000380690:E459K;ENSP00000399658:E130K;ENSP00000447477:E177K	ENSP00000257583:E156K	E	+	1	0	CCDC64	119003140	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.381000	0.79718	2.492000	0.84095	0.561000	0.74099	GAG	CCDC64	-	NULL		0.493	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC64	HGNC	protein_coding	OTTHUMT00000403390.2	G	NM_207311		120518757	+1	no_errors	ENST00000257583	ensembl	human	known	70_37	missense	SNP	1.000	A
CCDC64B	146439	genome.wustl.edu	37	16	3080597	3080597	+	Splice_Site	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:3080597C>T	ENST00000572449.1	-	5	678		c.e5-1		CCDC64B_ENST00000389347.4_Splice_Site|CCDC64B_ENST00000573514.1_Splice_Site|RP11-473M20.5_ENST00000382225.3_RNA			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B											breast(1)|endometrium(2)|large_intestine(1)	4						GCATCTGGTTCTGGGGAAAGG	0.657																																																	0													16.0	19.0	18.0					16																	3080597		1934	4127	6061	SO:0001630	splice_region_variant	146439			BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.616-1G>A	16.37:g.3080597C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q658L9	Splice_Site	SNP	-	e4-1	ENST00000572449.1	37	c.616-1	CCDS45393.1	16	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362228	0.24684	.	.	ENSG00000162069	ENST00000389347	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1197	0.81342	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC64B	3020598	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.605000	0.67634	2.420000	0.82092	0.491000	0.48974	.	CCDC64B	-	-		0.657	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC64B	HGNC	protein_coding	OTTHUMT00000436991.1	C		Intron	3080597	-1	no_errors	ENST00000389347	ensembl	human	known	70_37	splice_site	SNP	1.000	T
CCDC7	79741	genome.wustl.edu	37	10	32833221	32833221	+	Missense_Mutation	SNP	C	C	G	rs575329997		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:32833221C>G	ENST00000362006.5	+	14	1669	c.1126C>G	c.(1126-1128)Caa>Gaa	p.Q376E	CCDC7_ENST00000277657.6_Missense_Mutation_p.Q376E|C10orf68_ENST00000572165.1_3'UTR	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	376										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				AGATTTGGATCAAGTACAGGT	0.294																																																	0													85.0	87.0	87.0					10																	32833221		2203	4286	6489	SO:0001583	missense	79741			BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.1126C>G	10.37:g.32833221C>G	ENSP00000355078:p.Gln376Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	NULL	p.Q376E	ENST00000362006.5	37	c.1126	CCDS7173.1	10	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386362	0.25031	.	.	ENSG00000216937	ENST00000277657;ENST00000362006;ENST00000435402	T;T;T	0.52526	1.28;1.28;0.66	3.2	-0.329	0.12686	.	.	.	.	.	T	0.28134	0.0694	L	0.29908	0.895	0.27388	N	0.95524	B	0.23891	0.093	B	0.17433	0.018	T	0.23476	-1.0187	9	0.15952	T	0.53	-0.3814	5.3863	0.16220	0.4527:0.3536:0.1936:0.0	.	376	Q96M83	CCDC7_HUMAN	E	376;376;45	ENSP00000277657:Q376E;ENSP00000355078:Q376E;ENSP00000401923:Q45E	ENSP00000277657:Q376E	Q	+	1	0	CCDC7	32873227	0.000000	0.05858	0.297000	0.24988	0.396000	0.30629	-0.982000	0.03762	-0.067000	0.12976	0.655000	0.94253	CAA	CCDC7	-	NULL		0.294	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CCDC7	HGNC	protein_coding	OTTHUMT00000047490.1	C	NM_145023		32833221	+1	no_errors	ENST00000277657	ensembl	human	known	70_37	missense	SNP	0.377	G
CCDC91	55297	genome.wustl.edu	37	12	28459678	28459678	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:28459678C>T	ENST00000545336.1	+	8	690	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	CCDC91_ENST00000381259.1_Nonsense_Mutation_p.Q91*|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Nonsense_Mutation_p.Q61*|CCDC91_ENST00000381256.1_Nonsense_Mutation_p.Q91*|CCDC91_ENST00000539107.1_Nonsense_Mutation_p.Q91*			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	91					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GGTTTAGATTCAGCAATCAAC	0.343																																																	0													62.0	66.0	65.0					12																	28459678		2203	4297	6500	SO:0001587	stop_gained	55297			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.271C>T	12.37:g.28459678C>T	ENSP00000438040:p.Gln91*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Nonsense_Mutation	SNP	NULL	p.Q91*	ENST00000545336.1	37	c.271	CCDS8716.1	12	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502250	0.64298	.	.	ENSG00000123106	ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	.	.	.	5.27	4.39	0.52855	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-10.9394	9.5563	0.39341	0.0:0.9055:0.0:0.0945	.	.	.	.	X	91;91;91;91;91;91;91;61	.	ENSP00000305075:Q61X	Q	+	1	0	CCDC91	28350945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.747000	0.55134	1.445000	0.47624	0.655000	0.94253	CAG	CCDC91	-	NULL		0.343	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC91	HGNC	protein_coding	OTTHUMT00000402447.1	C	NM_018318		28459678	+1	no_errors	ENST00000381259	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CCDC92	80212	genome.wustl.edu	37	12	124428832	124428832	+	Silent	SNP	C	C	G	rs148809811		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:124428832C>G	ENST00000238156.3	-	2	375	c.21G>C	c.(19-21)tcG>tcC	p.S7S	CCDC92_ENST00000545135.1_5'UTR|CCDC92_ENST00000544798.1_5'UTR|CCDC92_ENST00000545891.1_Intron	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	7						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CATCGTAACTCGAGAAATGTG	0.498																																																	0													88.0	86.0	87.0					12																	124428832		2203	4300	6503	SO:0001819	synonymous_variant	80212			AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.21G>C	12.37:g.124428832C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNQ0|Q9H697	Silent	SNP	NULL	p.S7	ENST00000238156.3	37	c.21	CCDS9256.1	12																																																																																			CCDC92	-	NULL		0.498	CCDC92-001	KNOWN	basic|CCDS	protein_coding	CCDC92	HGNC	protein_coding	OTTHUMT00000400780.2	C	NM_025140		124428832	-1	no_errors	ENST00000238156	ensembl	human	known	70_37	silent	SNP	0.000	G
CCK	885	genome.wustl.edu	37	3	42305093	42305093	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:42305093C>T	ENST00000396169.2	-	4	935	c.30G>A	c.(28-30)ctG>ctA	p.L10L	CCK_ENST00000434608.1_Silent_p.L10L|CCK_ENST00000334681.5_Silent_p.L10L	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	10					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axonogenesis (GO:0007409)|behavioral fear response (GO:0001662)|eating behavior (GO:0042755)|negative regulation of appetite (GO:0032099)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein oligomerization (GO:0032461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|release of cytochrome c from mitochondria (GO:0001836)|signal transduction (GO:0007165)	axon (GO:0030424)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|terminal bouton (GO:0043195)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		GTACCGCCATCAGCACGCACA	0.711																																																	0													9.0	10.0	10.0					3																	42305093		2111	4143	6254	SO:0001819	synonymous_variant	885				CCDS2696.1	3p22.1	2013-02-25			ENSG00000187094	ENSG00000187094		"""Endogenous ligands"""	1569	protein-coding gene	gene with protein product	"""prepro-cholecystokinin"", ""cholecystokinin triacontatriapeptide"""	118440				3856870	Standard	NM_001174138		Approved		uc021wwk.1	P06307	OTTHUMG00000131796	ENST00000396169.2:c.30G>A	3.37:g.42305093C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Gastrin,smart_Gastrin	p.L10	ENST00000396169.2	37	c.30	CCDS2696.1	3																																																																																			CCK	-	pfam_Gastrin		0.711	CCK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCK	HGNC	protein_coding	OTTHUMT00000343380.1	C	NM_000729		42305093	-1	no_errors	ENST00000334681	ensembl	human	known	70_37	silent	SNP	1.000	T
CCNF	899	genome.wustl.edu	37	16	2503298	2503298	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2503298C>T	ENST00000397066.4	+	14	1663	c.1575C>T	c.(1573-1575)atC>atT	p.I525I	RP11-715J22.3_ENST00000561653.1_RNA|RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	525					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ATGGAGAAATCAGCCAGGAAG	0.622																																																	0													70.0	71.0	70.0					16																	2503298		2198	4300	6498	SO:0001819	synonymous_variant	899			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1575C>T	16.37:g.2503298C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8H3|Q96EG9	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like	p.I525	ENST00000397066.4	37	c.1575	CCDS10467.1	16																																																																																			CCNF	-	pfam_Cyclin_C,superfamily_Cyclin-like		0.622	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1	C	NM_001761		2503298	+1	no_errors	ENST00000397066	ensembl	human	known	70_37	silent	SNP	1.000	T
CCNT2	905	genome.wustl.edu	37	2	135710843	135710843	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:135710843C>G	ENST00000264157.5	+	9	848	c.818C>G	c.(817-819)tCa>tGa	p.S273*	CCNT2_ENST00000537343.1_Nonsense_Mutation_p.S98*|CCNT2_ENST00000295238.6_Nonsense_Mutation_p.S273*	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	273					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		GGACAGGTATCAGAGACACCA	0.368																																																	0													100.0	96.0	97.0					2																	135710843		2203	4300	6503	SO:0001587	stop_gained	905			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.818C>G	2.37:g.135710843C>G	ENSP00000264157:p.Ser273*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Nonsense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.S273*	ENST00000264157.5	37	c.818	CCDS2174.1	2	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925791	0.92319	.	.	ENSG00000082258	ENST00000446247;ENST00000537343;ENST00000295238;ENST00000264157	.	.	.	5.83	5.83	0.93111	.	0.138684	0.50627	D	0.000104	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	18.3076	0.90188	0.0:1.0:0.0:0.0	.	.	.	.	X	114;98;273;273	.	ENSP00000264157:S273X	S	+	2	0	CCNT2	135427313	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.826000	0.62715	2.775000	0.95449	0.585000	0.79938	TCA	CCNT2	-	NULL		0.368	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT2	HGNC	protein_coding	OTTHUMT00000254629.1	C	NM_058241		135710843	+1	no_errors	ENST00000264157	ensembl	human	known	70_37	nonsense	SNP	0.997	G
CCNT2	905	genome.wustl.edu	37	2	135710948	135710948	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:135710948C>G	ENST00000264157.5	+	9	953	c.923C>G	c.(922-924)gCa>gGa	p.A308G	CCNT2_ENST00000537343.1_Missense_Mutation_p.A133G|CCNT2_ENST00000295238.6_Missense_Mutation_p.A308G	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	308					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		tctacatcagcATTCCCTGCG	0.408																																																	0													91.0	79.0	83.0					2																	135710948		2201	4298	6499	SO:0001583	missense	905			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.923C>G	2.37:g.135710948C>G	ENSP00000264157:p.Ala308Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.A308G	ENST00000264157.5	37	c.923	CCDS2174.1	2	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259109	0.59321	.	.	ENSG00000082258	ENST00000537343;ENST00000295238;ENST00000264157	T;T	0.27402	1.67;1.74	5.62	5.62	0.85841	.	0.382644	0.29846	N	0.011059	T	0.26122	0.0637	L	0.29908	0.895	0.37842	D	0.929079	B;B;B	0.31752	0.081;0.189;0.338	B;B;B	0.29267	0.031;0.036;0.1	T	0.07158	-1.0787	10	0.27785	T	0.31	.	19.6696	0.95907	0.0:1.0:0.0:0.0	.	133;308;308	B4DH21;O60583;O60583-2	.;CCNT2_HUMAN;.	G	133;308;308	ENSP00000295238:A308G;ENSP00000264157:A308G	ENSP00000264157:A308G	A	+	2	0	CCNT2	135427418	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.769000	0.68865	2.665000	0.90641	0.585000	0.79938	GCA	CCNT2	-	NULL		0.408	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT2	HGNC	protein_coding	OTTHUMT00000254629.1	C	NM_058241		135710948	+1	no_errors	ENST00000264157	ensembl	human	known	70_37	missense	SNP	1.000	G
CCR9	10803	genome.wustl.edu	37	3	45942949	45942949	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:45942949C>T	ENST00000357632.2	+	3	849	c.669C>T	c.(667-669)ttC>ttT	p.F223F	CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000395963.2_Silent_p.F211F|CCR9_ENST00000355983.2_Silent_p.F211F|Y_RNA_ENST00000364765.1_RNA	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	223					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TTCTGGGGTTCTTCCTTCCCT	0.493																																																	0													183.0	162.0	169.0					3																	45942949		2203	4300	6503	SO:0001819	synonymous_variant	10803			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.669C>T	3.37:g.45942949C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VBM3|Q549E0|Q9UQQ6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCR11,prints_Chemokine_CXCR4	p.F223	ENST00000357632.2	37	c.669	CCDS2732.1	3																																																																																			CCR9	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR11		0.493	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR9	HGNC	protein_coding	OTTHUMT00000257323.2	C			45942949	+1	no_errors	ENST00000357632	ensembl	human	known	70_37	silent	SNP	1.000	T
CCR1	1230	genome.wustl.edu	37	3	46245498	46245498	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:46245498C>T	ENST00000296140.3	-	2	432	c.307G>A	c.(307-309)Gat>Aat	p.D103N	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	103					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CACATGGCATCACCAAAAACC	0.483																																																	0													157.0	152.0	153.0					3																	46245498		2203	4300	6503	SO:0001583	missense	1230				CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.307G>A	3.37:g.46245498C>T	ENSP00000296140:p.Asp103Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VA9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_P2_purnocptor,prints_NPY_rcpt,prints_ATII_rcpt	p.D103N	ENST00000296140.3	37	c.307	CCDS2737.1	3	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.077355	0.00375	.	.	ENSG00000163823	ENST00000296140	T	0.72167	-0.63	4.86	-9.71	0.00518	GPCR, rhodopsin-like superfamily (1);	0.432853	0.22889	N	0.054403	T	0.36413	0.0966	N	0.10874	0.06	0.18873	N	0.999989	B	0.06786	0.001	B	0.10450	0.005	T	0.41734	-0.9492	10	0.02654	T	1	.	11.2764	0.49170	0.0:0.2287:0.1644:0.6069	.	103	P32246	CCR1_HUMAN	N	103	ENSP00000296140:D103N	ENSP00000296140:D103N	D	-	1	0	CCR1	46220502	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.612000	0.05616	-2.450000	0.00543	-1.654000	0.00755	GAT	CCR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.483	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR1	HGNC	protein_coding	OTTHUMT00000257325.2	C	NM_001295		46245498	-1	no_errors	ENST00000296140	ensembl	human	known	70_37	missense	SNP	0.000	T
CCRN4L	25819	genome.wustl.edu	37	4	139966097	139966097	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:139966097G>A	ENST00000280614.2	+	3	958	c.765G>A	c.(763-765)ctG>ctA	p.L255L	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	255					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					ATATTAGGCTGACAGCCATGA	0.463																																					Ovarian(144;566 1842 19130 21379 22209)												0													86.0	82.0	83.0					4																	139966097		2203	4300	6503	SO:0001819	synonymous_variant	25819			AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"""CCR4-like (carbon catabolite repression 4, S.cerevisiae)"""			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.765G>A	4.37:g.139966097G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.L255	ENST00000280614.2	37	c.765	CCDS3743.1	4																																																																																			CCRN4L	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.463	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRN4L	HGNC	protein_coding	OTTHUMT00000257231.3	G	NM_012118		139966097	+1	no_errors	ENST00000280614	ensembl	human	known	70_37	silent	SNP	1.000	A
CD164L2	388611	genome.wustl.edu	37	1	27709027	27709027	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:27709027G>A	ENST00000374030.1	-	2	359	c.219C>T	c.(217-219)tcC>tcT	p.S73S	CD164L2_ENST00000374025.3_Silent_p.S73S|CD164L2_ENST00000374027.3_Silent_p.S73S			Q6UWJ8	C16L2_HUMAN	CD164 sialomucin-like 2	73						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACATGCAGCTGGAGAGATTGC	0.652																																																	0													46.0	48.0	47.0					1																	27709027		2203	4300	6503	SO:0001819	synonymous_variant	388611			AY358761	CCDS302.1	1p36.11	2008-02-05			ENSG00000174950	ENSG00000174950			32043	protein-coding gene	gene with protein product							Standard	XM_005245868		Approved		uc001boc.3	Q6UWJ8	OTTHUMG00000003395	ENST00000374030.1:c.219C>T	1.37:g.27709027G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPJ0|Q5JXD6	Silent	SNP	pfam_CD164_MGC24	p.S73	ENST00000374030.1	37	c.219		1																																																																																			CD164L2	-	pfam_CD164_MGC24		0.652	CD164L2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CD164L2	HGNC	protein_coding	OTTHUMT00000009518.1	G	NM_207397		27709027	-1	no_errors	ENST00000374030	ensembl	human	known	70_37	silent	SNP	0.073	A
CD200	4345	genome.wustl.edu	37	3	112066545	112066545	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:112066545C>G	ENST00000315711.8	+	4	619	c.562C>G	c.(562-564)Cac>Gac	p.H188D	CD200_ENST00000473539.1_Missense_Mutation_p.H213D|CD200_ENST00000383681.3_Missense_Mutation_p.H114D	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	188	Ig-like C2-type.				regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				GACTCTGTCTCACCCAAATGG	0.547																																																	0													136.0	132.0	134.0					3																	112066545		2203	4300	6503	SO:0001583	missense	4345				CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7203	protein-coding gene	gene with protein product		155970	"""antigen identified by monoclonal antibody MRC OX-2"", ""CD200 antigen"""	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000315711.8:c.562C>G	3.37:g.112066545C>G	ENSP00000312766:p.His188Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.H213D	ENST00000315711.8	37	c.637	CCDS2965.1	3	.	.	.	.	.	.	.	.	.	.	C	2.207	-0.381630	0.04966	.	.	ENSG00000091972	ENST00000315711;ENST00000473539;ENST00000383681	T;T;T	0.19532	2.14;2.14;2.14	5.66	2.74	0.32292	Immunoglobulin (1);Immunoglobulin-like fold (1);	0.349978	0.24492	N	0.038048	T	0.19248	0.0462	L	0.29908	0.895	0.09310	N	1	B;B;B;B;P	0.36222	0.444;0.119;0.145;0.119;0.544	B;B;B;B;B	0.44224	0.444;0.041;0.069;0.041;0.257	T	0.16394	-1.0404	10	0.20046	T	0.44	-8.4265	11.8151	0.52204	0.4589:0.5411:0.0:0.0	.	188;114;114;188;213	P41217;F8W7G1;B4DDZ6;P41217-2;P41217-3	OX2G_HUMAN;.;.;.;.	D	188;213;114	ENSP00000312766:H188D;ENSP00000420298:H213D;ENSP00000373179:H114D	ENSP00000312766:H188D	H	+	1	0	CD200	113549235	0.118000	0.22208	0.076000	0.20297	0.002000	0.02628	0.739000	0.26173	0.699000	0.31761	-0.169000	0.13324	CAC	CD200	-	pfam_Immunoglobulin		0.547	CD200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD200	HGNC	protein_coding	OTTHUMT00000354078.1	C			112066545	+1	no_errors	ENST00000473539	ensembl	human	known	70_37	missense	SNP	0.018	G
CD226	10666	genome.wustl.edu	37	18	67614101	67614101	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:67614101G>A	ENST00000280200.4	-	3	519	c.251C>T	c.(250-252)tCa>tTa	p.S84L	CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.S84L|CD226_ENST00000581982.1_Intron	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	84	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AGCCATCGTTGAATTCAAAAA	0.448																																					NSCLC(184;838 2130 8673 21498 50749)												0													111.0	97.0	102.0					18																	67614101		2203	4300	6503	SO:0001583	missense	10666			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.251C>T	18.37:g.67614101G>A	ENSP00000280200:p.Ser84Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R818	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S84L	ENST00000280200.4	37	c.251	CCDS11997.1	18	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412311	0.42817	.	.	ENSG00000150637	ENST00000280200	T	0.67865	-0.29	5.51	2.73	0.32206	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.020170	0.07794	N	0.955476	T	0.57007	0.2024	L	0.43701	1.375	0.09310	N	1	P	0.35551	0.509	B	0.34652	0.187	T	0.49725	-0.8909	10	0.59425	D	0.04	.	5.3125	0.15837	0.17:0.0:0.6679:0.1621	.	84	Q15762	CD226_HUMAN	L	84	ENSP00000280200:S84L	ENSP00000280200:S84L	S	-	2	0	CD226	65765081	0.021000	0.18746	0.001000	0.08648	0.062000	0.15995	1.210000	0.32370	0.375000	0.24679	0.655000	0.94253	TCA	CD226	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.448	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD226	HGNC	protein_coding	OTTHUMT00000256226.3	G	NM_006566		67614101	-1	no_errors	ENST00000280200	ensembl	human	known	70_37	missense	SNP	0.010	A
CD36	948	genome.wustl.edu	37	7	80300396	80300396	+	Missense_Mutation	SNP	G	G	A	rs150308664		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:80300396G>A	ENST00000435819.1	+	13	1606	c.922G>A	c.(922-924)Gac>Aac	p.D308N	CD36_ENST00000309881.7_Missense_Mutation_p.D308N|CD36_ENST00000432207.1_Missense_Mutation_p.D308N|CD36_ENST00000534394.1_Missense_Mutation_p.D232N|CD36_ENST00000394788.3_Missense_Mutation_p.D308N|CD36_ENST00000538969.1_Missense_Mutation_p.D248N|CD36_ENST00000433696.2_Missense_Mutation_p.D269N|CD36_ENST00000544133.1_Intron|CD36_ENST00000447544.2_Missense_Mutation_p.D308N			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	308					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGAAAACCCAGACAACTATTG	0.373																																																	0													131.0	131.0	131.0					7																	80300396		2203	4300	6503	SO:0001583	missense	948			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.922G>A	7.37:g.80300396G>A	ENSP00000399421:p.Asp308Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	pfam_CD36,prints_CD36_antigen,prints_CD36	p.D308N	ENST00000435819.1	37	c.922	CCDS34673.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.392062	0.95988	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000394788;ENST00000447544;ENST00000432207;ENST00000419819;ENST00000538969;ENST00000433696	T;T;T;T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.71	5.71	0.89125	.	0.045838	0.85682	D	0.000000	D	0.83940	0.5363	M	0.74258	2.255	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	T	0.83162	-0.0098	9	.	.	.	-16.8217	19.4639	0.94931	0.0:0.0:1.0:0.0	.	308	P16671	CD36_HUMAN	N	308;308;232;308;308;308;308;248;269	ENSP00000399421:D308N;ENSP00000308165:D308N;ENSP00000431296:D232N;ENSP00000378268:D308N;ENSP00000415743:D308N;ENSP00000411411:D308N;ENSP00000392298:D308N;ENSP00000439543:D248N;ENSP00000401863:D269N	.	D	+	1	0	CD36	80138332	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.128000	0.94424	2.686000	0.91538	0.585000	0.79938	GAC	CD36	-	pfam_CD36,prints_CD36_antigen		0.373	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD36	HGNC	protein_coding	OTTHUMT00000339767.6	G	NM_001001547		80300396	+1	no_errors	ENST00000309881	ensembl	human	known	70_37	missense	SNP	1.000	A
CD4	920	genome.wustl.edu	37	12	6926360	6926360	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:6926360G>A	ENST00000011653.4	+	7	1278	c.1020G>A	c.(1018-1020)ctG>ctA	p.L340L		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	340	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AGCTGATGCTGAGTTTGAAAC	0.567																																																	0													85.0	66.0	72.0					12																	6926360		2203	4300	6503	SO:0001819	synonymous_variant	920			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1020G>A	12.37:g.6926360G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Silent	SNP	pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Ag_CD4	p.L340	ENST00000011653.4	37	c.1020	CCDS8562.1	12																																																																																			CD4	-	pfam_Ig_C2-set		0.567	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD4	HGNC	protein_coding	OTTHUMT00000399978.1	G	NM_000616		6926360	+1	no_errors	ENST00000011653	ensembl	human	known	70_37	silent	SNP	0.985	A
CD4	920	genome.wustl.edu	37	12	6927704	6927704	+	Missense_Mutation	SNP	G	G	A	rs369537966		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:6927704G>A	ENST00000011653.4	+	8	1532	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	425					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	TGCCGGCACCGAAGGGTGAGT	0.602													G|||	4	0.000798722	0.003	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0																0								G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	59.0	58.0	58.0		1274,737,455,455,455	1.4	0.0	12		58	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	CD4	NM_000616.4,NM_001195014.2,NM_001195015.2,NM_001195016.2,NM_001195017.2	43,43,43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	425/459,246/280,152/186,152/186,152/186	6927704	1,13005	2203	4300	6503	SO:0001583	missense	920			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1274G>A	12.37:g.6927704G>A	ENSP00000011653:p.Arg425Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Ag_CD4	p.R425Q	ENST00000011653.4	37	c.1274	CCDS8562.1	12	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402691	0.25291	2.27E-4	0.0	ENSG00000010610	ENST00000011653	T	0.31769	1.48	4.23	1.36	0.22044	.	0.353495	0.27284	N	0.020076	T	0.16171	0.0389	L	0.44542	1.39	0.09310	N	0.999997	D;P	0.54964	0.969;0.778	B;B	0.32805	0.153;0.074	T	0.23190	-1.0195	10	0.33940	T	0.23	-10.6475	5.7088	0.17923	0.3569:0.0:0.6431:0.0	.	246;425	B0AZV7;P01730	.;CD4_HUMAN	Q	425	ENSP00000011653:R425Q	ENSP00000011653:R425Q	R	+	2	0	CD4	6797965	0.185000	0.23213	0.027000	0.17364	0.495000	0.33615	1.227000	0.32576	0.078000	0.16900	0.561000	0.74099	CGA	CD4	-	NULL		0.602	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD4	HGNC	protein_coding	OTTHUMT00000399978.1	G	NM_000616		6927704	+1	no_errors	ENST00000011653	ensembl	human	known	70_37	missense	SNP	0.039	A
CD47	961	genome.wustl.edu	37	3	107762491	107762491	+	3'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:107762491C>G	ENST00000355354.7	-	0	4674				CD47_ENST00000471694.1_5'UTR	NM_198793.2	NP_942088.1	Q08722	CD47_HUMAN	CD47 molecule						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			ATCTAATTCTCAACAATGGCT	0.313																																																	0																																										SO:0001624	3_prime_UTR_variant	961				CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216	ENST00000355354.7:c.*3640G>C	3.37:g.107762491C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K198|D3DN59|Q53Y71|Q96A60	RNA	SNP	-	NULL	ENST00000355354.7	37	NULL	CCDS43125.1	3																																																																																			CD47	-	-		0.313	CD47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD47	HGNC	protein_coding	OTTHUMT00000102791.1	C	NM_001777		107762491	-1	no_errors	ENST00000471694	ensembl	human	known	70_37	rna	SNP	0.996	G
CD96	10225	genome.wustl.edu	37	3	111264108	111264108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:111264108G>T	ENST00000283285.5	+	2	408	c.277G>T	c.(277-279)Gaa>Taa	p.E93*	CD96_ENST00000438817.2_Nonsense_Mutation_p.E93*|CD96_ENST00000352690.4_Nonsense_Mutation_p.E93*	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	93	Ig-like V-type 1.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GACTTTCACAGAAACTCCTGA	0.458									Opitz Trigonocephaly syndrome																																								0													113.0	98.0	103.0					3																	111264108		2203	4300	6503	SO:0001587	stop_gained	10225	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.277G>T	3.37:g.111264108G>T	ENSP00000283285:p.Glu93*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JPB3	Nonsense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.E93*	ENST00000283285.5	37	c.277	CCDS2959.1	3	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725617	0.68959	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	.	.	.	5.23	-3.58	0.04597	.	0.679802	0.14063	N	0.343944	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.418	7.6387	0.28282	0.239:0.4363:0.3247:0.0	.	.	.	.	X	93	.	ENSP00000283285:E93X	E	+	1	0	CD96	112746798	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.048000	0.11944	-0.632000	0.05553	-1.028000	0.02416	GAA	CD96	-	smart_Ig_sub		0.458	CD96-001	KNOWN	basic|CCDS	protein_coding	CD96	HGNC	protein_coding	OTTHUMT00000354312.2	G			111264108	+1	no_errors	ENST00000283285	ensembl	human	known	70_37	nonsense	SNP	0.000	T
CDC14B	8555	genome.wustl.edu	37	9	99258569	99258569	+	Nonstop_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:99258569C>G	ENST00000265659.2	-	13	1867	c.1416G>C	c.(1414-1416)taG>taC	p.*472Y				O60729	CC14B_HUMAN	cell division cycle 14B	0					activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CCCCGCAGGTCTAGTCCTTGT	0.582																																																	0													19.0	17.0	18.0					9																	99258569		876	1990	2866	SO:0001578	stop_lost	8555			AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000265659.2:c.1416G>C	9.37:g.99258569C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Nonstop_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.*472Y	ENST00000265659.2	37	c.1416		9	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857466	0.32791	.	.	ENSG00000081377	ENST00000265659	.	.	.	4.05	3.15	0.36227	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6642	0.28421	0.0:0.8864:0.0:0.1136	.	.	.	.	Y	472	.	.	X	-	3	2	CDC14B	98298390	0.560000	0.26570	0.941000	0.38009	0.037000	0.13140	0.981000	0.29526	1.319000	0.45190	0.555000	0.69702	TAG	CDC14B	-	NULL		0.582	CDC14B-201	KNOWN	basic	protein_coding	CDC14B	HGNC	protein_coding		C	NM_033331		99258569	-1	no_errors	ENST00000265659	ensembl	human	known	70_37	nonstop	SNP	0.941	G
CDC25A	993	genome.wustl.edu	37	3	48228245	48228245	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:48228245C>T	ENST00000302506.3	-	2	603	c.195G>A	c.(193-195)gtG>gtA	p.V65V	CDC25A_ENST00000351231.3_Silent_p.V65V	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	65					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TGTTGTTCTTCACCTCCAGTG	0.408																																																	0													91.0	77.0	82.0					3																	48228245		2203	4299	6502	SO:0001819	synonymous_variant	993			M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.195G>A	3.37:g.48228245C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IZH5|Q96IL3|Q9H2F2	Silent	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.V65	ENST00000302506.3	37	c.195	CCDS2760.1	3																																																																																			CDC25A	-	NULL		0.408	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25A	HGNC	protein_coding	OTTHUMT00000257512.2	C	NM_001789		48228245	-1	no_errors	ENST00000302506	ensembl	human	known	70_37	silent	SNP	0.873	T
CDC25B	994	genome.wustl.edu	37	20	3781913	3781913	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:3781913G>C	ENST00000245960.5	+	8	1415	c.718G>C	c.(718-720)Gac>Cac	p.D240H	CDC25B_ENST00000379598.5_Missense_Mutation_p.D176H|CDC25B_ENST00000344256.6_Missense_Mutation_p.D176H|CDC25B_ENST00000439880.2_Missense_Mutation_p.D226H|CDC25B_ENST00000340833.4_Missense_Mutation_p.D199H|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	240					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TCTCAGTCCTGACCGGAAGAT	0.572																																																	0													97.0	92.0	94.0					20																	3781913		2203	4300	6503	SO:0001583	missense	994				CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.718G>C	20.37:g.3781913G>C	ENSP00000245960:p.Asp240His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.D240H	ENST00000245960.5	37	c.718	CCDS13067.1	20	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215543	0.58452	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	4.53	4.53	0.55603	.	0.725928	0.13312	N	0.397434	T	0.33847	0.0877	N	0.24115	0.695	0.28004	N	0.935175	P;P;P;B;P;P	0.50066	0.703;0.931;0.703;0.343;0.654;0.904	P;P;P;B;P;P	0.60068	0.663;0.868;0.663;0.329;0.532;0.562	T	0.11275	-1.0594	10	0.49607	T	0.09	-7.866	13.4875	0.61375	0.0:0.0:1.0:0.0	.	176;162;176;199;226;240	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	H	176;176;240;226;199	ENSP00000339125:D176H;ENSP00000368918:D176H;ENSP00000245960:D240H;ENSP00000405972:D226H;ENSP00000339170:D199H	ENSP00000245960:D240H	D	+	1	0	CDC25B	3729913	0.829000	0.29322	0.712000	0.30502	0.505000	0.33919	5.990000	0.70595	2.461000	0.83175	0.561000	0.74099	GAC	CDC25B	-	pfam_MPI_Phosphatase		0.572	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25B	HGNC	protein_coding	OTTHUMT00000077779.2	G	NM_021874		3781913	+1	no_errors	ENST00000245960	ensembl	human	known	70_37	missense	SNP	0.940	C
CDC25B	994	genome.wustl.edu	37	20	3781997	3781997	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:3781997G>C	ENST00000245960.5	+	8	1499	c.802G>C	c.(802-804)Gat>Cat	p.D268H	CDC25B_ENST00000379598.5_Missense_Mutation_p.D204H|CDC25B_ENST00000344256.6_Missense_Mutation_p.D204H|CDC25B_ENST00000439880.2_Missense_Mutation_p.D254H|CDC25B_ENST00000340833.4_Missense_Mutation_p.D227H|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	268					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TACTGAGGAAGATGATGGATT	0.552																																																	0													144.0	147.0	146.0					20																	3781997		2203	4300	6503	SO:0001583	missense	994				CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.802G>C	20.37:g.3781997G>C	ENSP00000245960:p.Asp268His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.D268H	ENST00000245960.5	37	c.802	CCDS13067.1	20	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060544	0.76074	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	4.41	4.41	0.53225	.	0.054012	0.64402	D	0.000001	T	0.74943	0.3783	M	0.78456	2.415	0.58432	D	0.999992	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.998;0.998;1.0	T	0.78510	-0.2176	10	0.87932	D	0	-21.0743	13.2211	0.59887	0.0:0.0:1.0:0.0	.	204;190;204;227;254;268	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	H	204;204;268;254;227	ENSP00000339125:D204H;ENSP00000368918:D204H;ENSP00000245960:D268H;ENSP00000405972:D254H;ENSP00000339170:D227H	ENSP00000245960:D268H	D	+	1	0	CDC25B	3729997	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	4.542000	0.60677	2.395000	0.81488	0.561000	0.74099	GAT	CDC25B	-	pfam_MPI_Phosphatase		0.552	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25B	HGNC	protein_coding	OTTHUMT00000077779.2	G	NM_021874		3781997	+1	no_errors	ENST00000245960	ensembl	human	known	70_37	missense	SNP	1.000	C
CDC25B	994	genome.wustl.edu	37	20	3783436	3783436	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:3783436G>C	ENST00000245960.5	+	12	1891				CDC25B_ENST00000379598.5_Intron|CDC25B_ENST00000344256.6_Intron|CDC25B_ENST00000439880.2_Intron|CDC25B_ENST00000340833.4_Intron|CDC25B_ENST00000467519.1_Intron	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B						female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AACCAGAACTGAATTTGAAGG	0.483																																																	0																																										SO:0001627	intron_variant	994				CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1195-121G>C	20.37:g.3783436G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	RNA	SNP	-	NULL	ENST00000245960.5	37	NULL	CCDS13067.1	20																																																																																			CDC25B	-	-		0.483	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25B	HGNC	protein_coding	OTTHUMT00000077779.2	G	NM_021874		3783436	+1	no_errors	ENST00000468979	ensembl	human	known	70_37	rna	SNP	0.163	C
CDC25C	995	genome.wustl.edu	37	5	137621806	137621806	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:137621806C>T	ENST00000323760.6	-	13	1455	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	CDC25C_ENST00000357274.3_Missense_Mutation_p.E350K|CDC25C_ENST00000415130.2_Missense_Mutation_p.E320K|CDC25C_ENST00000348983.3_Missense_Mutation_p.E320K|CDC25C_ENST00000513970.1_Missense_Mutation_p.E393K|CDC25C_ENST00000356505.3_Missense_Mutation_p.E363K|CDC25C_ENST00000514555.1_Missense_Mutation_p.E363K	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	393	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTGTCCTCTTCACGCAGACAG	0.512																																																	0													81.0	82.0	82.0					5																	137621806		2203	4300	6503	SO:0001583	missense	995			M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.1177G>A	5.37:g.137621806C>T	ENSP00000321656:p.Glu393Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.E393K	ENST00000323760.6	37	c.1177	CCDS4202.1	5	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518869	0.64634	.	.	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.35	4.48	0.54585	Rhodanese-like (5);	0.128967	0.49916	D	0.000121	T	0.39091	0.1065	L	0.37466	1.105	0.44030	D	0.996758	D;D;P;D	0.63880	0.988;0.992;0.789;0.993	P;P;B;P	0.55011	0.59;0.655;0.158;0.766	T	0.28138	-1.0053	10	0.56958	D	0.05	-3.5703	15.5484	0.76126	0.0:0.8614:0.1386:0.0	.	410;363;320;393	G3V1P6;P30307-2;P30307-4;P30307	.;.;.;MPIP3_HUMAN	K	393;363;350;320;320;393;410;363	ENSP00000321656:E393K;ENSP00000348898:E363K;ENSP00000349821:E350K;ENSP00000345205:E320K;ENSP00000392631:E320K;ENSP00000424795:E393K;ENSP00000425470:E363K	ENSP00000321656:E393K	E	-	1	0	CDC25C	137649705	1.000000	0.71417	0.997000	0.53966	0.639000	0.38242	2.719000	0.47244	1.623000	0.50342	0.655000	0.94253	GAA	CDC25C	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom		0.512	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25C	HGNC	protein_coding	OTTHUMT00000251280.1	C			137621806	-1	no_errors	ENST00000323760	ensembl	human	known	70_37	missense	SNP	1.000	T
CDC42BPB	9578	genome.wustl.edu	37	14	103470347	103470347	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:103470347C>T	ENST00000361246.2	-	4	653	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.R122Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCGCTCCTCTCGGAAGCACGC	0.627																																																	1	Substitution - Missense(1)	lung(1)											74.0	55.0	61.0					14																	103470347		2203	4300	6503	SO:0001583	missense	9578			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.365G>A	14.37:g.103470347C>T	ENSP00000355237:p.Arg122Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.R122Q	ENST00000361246.2	37	c.365	CCDS9978.1	14	.	.	.	.	.	.	.	.	.	.	C	32	5.180037	0.94846	.	.	ENSG00000198752	ENST00000361246	T	0.68025	-0.3	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	L	0.45698	1.435	0.80722	D	1	D	0.71674	0.998	P	0.58391	0.838	T	0.75382	-0.3337	10	0.49607	T	0.09	.	18.7358	0.91753	0.0:1.0:0.0:0.0	.	122	Q9Y5S2	MRCKB_HUMAN	Q	122	ENSP00000355237:R122Q	ENSP00000355237:R122Q	R	-	2	0	CDC42BPB	102540100	1.000000	0.71417	0.984000	0.44739	0.553000	0.35397	6.005000	0.70716	2.501000	0.84356	0.491000	0.48974	CGA	CDC42BPB	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.627	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	C	NM_006035		103470347	-1	no_errors	ENST00000361246	ensembl	human	known	70_37	missense	SNP	1.000	T
CDC42BPG	55561	genome.wustl.edu	37	11	64594232	64594232	+	Missense_Mutation	SNP	G	G	A	rs565606476		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:64594232G>A	ENST00000342711.5	-	35	4423	c.4424C>T	c.(4423-4425)tCc>tTc	p.S1475F		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CTGTGGGCCGGAGCCGCGGGC	0.692																																																	0													9.0	13.0	12.0					11																	64594232		2160	4218	6378	SO:0001583	missense	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4424C>T	11.37:g.64594232G>A	ENSP00000345133:p.Ser1475Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.S1475F	ENST00000342711.5	37	c.4424	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398742	0.42512	.	.	ENSG00000171219	ENST00000342711	T	0.69040	-0.37	4.93	2.94	0.34122	.	0.209164	0.25117	N	0.033008	T	0.54822	0.1882	L	0.60455	1.87	0.09310	N	1	P	0.44578	0.838	B	0.36030	0.216	T	0.55289	-0.8164	10	0.62326	D	0.03	.	6.4689	0.21997	0.0995:0.0:0.7207:0.1799	.	1475	Q6DT37	MRCKG_HUMAN	F	1475	ENSP00000345133:S1475F	ENSP00000345133:S1475F	S	-	2	0	CDC42BPG	64350808	0.998000	0.40836	0.471000	0.27229	0.111000	0.19643	3.375000	0.52410	1.217000	0.43442	0.591000	0.81541	TCC	CDC42BPG	-	NULL		0.692	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	G	XM_290516		64594232	-1	no_errors	ENST00000342711	ensembl	human	known	70_37	missense	SNP	0.128	A
CDC42BPG	55561	genome.wustl.edu	37	11	64594598	64594598	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:64594598G>A	ENST00000342711.5	-	34	4312	c.4313C>T	c.(4312-4314)tCg>tTg	p.S1438L		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GGTAGGCGGCGAGATGAGCTT	0.627																																																	0													134.0	115.0	121.0					11																	64594598		2201	4297	6498	SO:0001583	missense	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4313C>T	11.37:g.64594598G>A	ENSP00000345133:p.Ser1438Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.S1438L	ENST00000342711.5	37	c.4313	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.088365	0.94100	.	.	ENSG00000171219	ENST00000342711	D	0.84370	-1.84	4.72	4.72	0.59763	PAK-box/P21-Rho-binding (1);	0.000000	0.35349	N	0.003277	D	0.92522	0.7625	M	0.83603	2.65	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.93644	0.6967	10	0.87932	D	0	.	15.5853	0.76475	0.0:0.0:1.0:0.0	.	1438	Q6DT37	MRCKG_HUMAN	L	1438	ENSP00000345133:S1438L	ENSP00000345133:S1438L	S	-	2	0	CDC42BPG	64351174	1.000000	0.71417	0.984000	0.44739	0.847000	0.48162	9.244000	0.95423	2.352000	0.79861	0.561000	0.74099	TCG	CDC42BPG	-	pfscan_PAK_box_Rho-bd		0.627	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	G	XM_290516		64594598	-1	no_errors	ENST00000342711	ensembl	human	known	70_37	missense	SNP	1.000	A
CDC42BPG	55561	genome.wustl.edu	37	11	64594862	64594862	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:64594862C>T	ENST00000342711.5	-	33	4158	c.4159G>A	c.(4159-4161)Gag>Aag	p.E1387K		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						ATGTCGAACTCGTCCTTCTCT	0.627																																																	0													105.0	116.0	112.0					11																	64594862		2201	4297	6498	SO:0001583	missense	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4159G>A	11.37:g.64594862C>T	ENSP00000345133:p.Glu1387Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E1387K	ENST00000342711.5	37	c.4159	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616251	0.87359	.	.	ENSG00000171219	ENST00000342711	T	0.68765	-0.35	4.82	4.82	0.62117	.	0.000000	0.44902	D	0.000402	T	0.71660	0.3366	M	0.76328	2.33	0.80722	D	1	D	0.63046	0.992	P	0.50490	0.642	T	0.73639	-0.3919	10	0.44086	T	0.13	.	11.6715	0.51403	0.0:0.8209:0.1791:0.0	.	1387	Q6DT37	MRCKG_HUMAN	K	1387	ENSP00000345133:E1387K	ENSP00000345133:E1387K	E	-	1	0	CDC42BPG	64351438	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.144000	0.77357	2.409000	0.81822	0.561000	0.74099	GAG	CDC42BPG	-	NULL		0.627	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	C	XM_290516		64594862	-1	no_errors	ENST00000342711	ensembl	human	known	70_37	missense	SNP	1.000	T
CDC42EP1	11135	genome.wustl.edu	37	22	37962412	37962412	+	Missense_Mutation	SNP	C	C	T	rs368492182		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:37962412C>T	ENST00000249014.4	+	2	476	c.56C>T	c.(55-57)tCg>tTg	p.S19L		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	19					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GGCAAGCTCTCGCCTGTGGGC	0.667																																																	0								C	LEU/SER	1,4403		0,1,2201	19.0	22.0	21.0		56	5.0	0.8	22		21	0,8598		0,0,4299	no	missense	CDC42EP1	NM_152243.2	145	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	19/392	37962412	1,13001	2202	4299	6501	SO:0001583	missense	11135			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.56C>T	22.37:g.37962412C>T	ENSP00000249014:p.Ser19Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K825|Q96GN1	Missense_Mutation	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.S19L	ENST00000249014.4	37	c.56	CCDS13949.1	22	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729545	0.48833	2.27E-4	0.0	ENSG00000128283	ENST00000249014;ENST00000430687;ENST00000415670;ENST00000434728	T	0.36340	1.26	4.99	4.99	0.66335	.	0.615828	0.15522	N	0.258008	T	0.23410	0.0566	N	0.19112	0.55	0.54753	D	0.999981	P	0.48640	0.913	B	0.31390	0.129	T	0.21965	-1.0230	10	0.49607	T	0.09	-3.6756	18.6422	0.91399	0.0:1.0:0.0:0.0	.	19	Q00587	BORG5_HUMAN	L	19	ENSP00000249014:S19L	ENSP00000249014:S19L	S	+	2	0	CDC42EP1	36292358	1.000000	0.71417	0.777000	0.31699	0.628000	0.37860	6.976000	0.76135	2.465000	0.83290	0.563000	0.77884	TCG	CDC42EP1	-	NULL		0.667	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP1	HGNC	protein_coding	OTTHUMT00000318993.1	C	NM_152243		37962412	+1	no_errors	ENST00000249014	ensembl	human	known	70_37	missense	SNP	0.998	T
CDC5L	988	genome.wustl.edu	37	6	44387271	44387271	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:44387271C>G	ENST00000371477.3	+	9	1477	c.1178C>G	c.(1177-1179)tCa>tGa	p.S393*		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	393	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGTGACTTCTCAGGTGTAACT	0.428																																																	0													160.0	141.0	147.0					6																	44387271		2203	4300	6503	SO:0001587	stop_gained	988			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1178C>G	6.37:g.44387271C>G	ENSP00000360532:p.Ser393*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q76N46|Q99974	Nonsense_Mutation	SNP	pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S393*	ENST00000371477.3	37	c.1178	CCDS4912.1	6	.	.	.	.	.	.	.	.	.	.	C	40	8.435743	0.98810	.	.	ENSG00000096401	ENST00000371477	.	.	.	5.57	5.57	0.84162	.	0.113928	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-11.5338	19.5372	0.95257	0.0:1.0:0.0:0.0	.	.	.	.	X	393	.	ENSP00000360532:S393X	S	+	2	0	CDC5L	44495249	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.993000	0.63895	2.609000	0.88269	0.563000	0.77884	TCA	CDC5L	-	pfam_DUF3351		0.428	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC5L	HGNC	protein_coding	OTTHUMT00000040743.1	C			44387271	+1	no_errors	ENST00000371477	ensembl	human	known	70_37	nonsense	SNP	1.000	G
CDH11	1009	genome.wustl.edu	37	16	64984692	64984692	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:64984692G>C	ENST00000268603.4	-	12	2487	c.1872C>G	c.(1870-1872)ctC>ctG	p.L624L	CDH11_ENST00000566827.1_Silent_p.L498L|CDH11_ENST00000394156.3_Silent_p.L624L	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	624					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGATGCAGGCGAGGATGGCGA	0.612			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	0													62.0	48.0	53.0					16																	64984692		2203	4300	6503	SO:0001819	synonymous_variant	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1872C>G	16.37:g.64984692G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L624	ENST00000268603.4	37	c.1872	CCDS10803.1	16																																																																																			CDH11	-	NULL		0.612	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	G	NM_033664		64984692	-1	no_errors	ENST00000268603	ensembl	human	known	70_37	silent	SNP	0.327	C
CDH12	1010	genome.wustl.edu	37	5	21817228	21817228	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:21817228C>G	ENST00000382254.1	-	9	1914	c.828G>C	c.(826-828)ttG>ttC	p.L276F	CDH12_ENST00000504376.2_Missense_Mutation_p.L276F|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.L236F	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	276	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CAGGAACTTTCAAGTGGAAGA	0.358										HNSCC(59;0.17)																																							0													51.0	51.0	51.0					5																	21817228		2203	4299	6502	SO:0001583	missense	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.828G>C	5.37:g.21817228C>G	ENSP00000371689:p.Leu276Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L276F	ENST00000382254.1	37	c.828	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	0.266	-0.996352	0.02145	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.48522	0.81;0.81;0.81	4.97	2.72	0.32119	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	N	0.03608	-0.345	0.44685	D	0.997675	B;D	0.89917	0.011;1.0	B;D	0.87578	0.075;0.998	T	0.34950	-0.9808	10	0.02654	T	1	.	8.9255	0.35637	0.0:0.6607:0.0:0.3393	.	236;276	B7Z2U6;P55289	.;CAD12_HUMAN	F	276;276;236	ENSP00000423577:L276F;ENSP00000371689:L276F;ENSP00000428786:L236F	ENSP00000371689:L276F	L	-	3	2	CDH12	21852985	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	0.743000	0.26231	1.169000	0.42739	0.585000	0.79938	TTG	CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.358	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	C	NM_004061		21817228	-1	no_errors	ENST00000382254	ensembl	human	known	70_37	missense	SNP	1.000	G
CDH13	1012	genome.wustl.edu	37	16	82892020	82892020	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:82892020G>C	ENST00000566620.1	+	2	389	c.99G>C	c.(97-99)caG>caC	p.Q33H	CDH13_ENST00000268613.10_Missense_Mutation_p.Q80H|CDH13_ENST00000446376.2_Missense_Mutation_p.Q33H|CDH13_ENST00000567445.1_Missense_Mutation_p.Q33H|CDH13_ENST00000428848.3_Missense_Mutation_p.Q33H|CDH13_ENST00000565636.1_Missense_Mutation_p.Q33H|CDH13_ENST00000431540.3_Missense_Mutation_p.Q33H	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	33					adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GATTTCAGCAGAAAGTGTTCC	0.398																																																	0													98.0	93.0	94.0					16																	82892020		1893	4110	6003	SO:0001583	missense	1012			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.99G>C	16.37:g.82892020G>C	ENSP00000454435:p.Gln33His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q33H	ENST00000566620.1	37	c.99	CCDS58486.1	16	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513850	0.64522	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000539548;ENST00000431540;ENST00000446376	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.95	4.92	0.64577	Cadherin prodomain-like (1);Cadherin-like (1);	.	.	.	.	T	0.54806	0.1881	L	0.40543	1.245	0.22926	N	0.99855	D;P;P;B	0.63046	0.992;0.797;0.896;0.268	P;P;P;B	0.59948	0.815;0.793;0.866;0.358	T	0.45512	-0.9256	9	0.59425	D	0.04	.	11.04	0.47825	0.1452:0.0:0.8548:0.0	.	33;80;33;33	B7Z590;B7Z9B1;A8W477;P55290	.;.;.;CAD13_HUMAN	H	80;33;33;33;33;33	ENSP00000268613:Q80H;ENSP00000394557:Q33H;ENSP00000442225:Q33H;ENSP00000408632:Q33H;ENSP00000388804:Q33H	ENSP00000268613:Q80H	Q	+	3	2	CDH13	81449521	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.799000	0.47892	2.827000	0.97445	0.650000	0.86243	CAG	CDH13	-	pfam_Cadherin_pro_dom,superfamily_Cadherin-like		0.398	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH13	HGNC	protein_coding	OTTHUMT00000432917.1	G	NM_001257		82892020	+1	no_errors	ENST00000566620	ensembl	human	known	70_37	missense	SNP	1.000	C
CDH13	1012	genome.wustl.edu	37	16	83817034	83817034	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:83817034C>T	ENST00000566620.1	+	13	2381	c.2091C>T	c.(2089-2091)ttC>ttT	p.F697F	CDH13_ENST00000268613.10_Silent_p.F744F|CDH13_ENST00000428848.3_Silent_p.F658F	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	697					adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCCTGCGCTTCAGCCTGCCCT	0.527																																																	0													78.0	79.0	79.0					16																	83817034		2039	4178	6217	SO:0001819	synonymous_variant	1012			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.2091C>T	16.37:g.83817034C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F697	ENST00000566620.1	37	c.2091	CCDS58486.1	16																																																																																			CDH13	-	pfscan_Cadherin		0.527	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH13	HGNC	protein_coding	OTTHUMT00000432917.1	C	NM_001257		83817034	+1	no_errors	ENST00000566620	ensembl	human	known	70_37	silent	SNP	0.699	T
CDH13	1012	genome.wustl.edu	37	16	83817049	83817049	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:83817049C>T	ENST00000566620.1	+	13	2396	c.2106C>T	c.(2104-2106)gtC>gtT	p.V702V	CDH13_ENST00000268613.10_Silent_p.V749V|CDH13_ENST00000428848.3_Silent_p.V663V	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	702					adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGCCCTCAGTCCTGCTCCTCA	0.522																																																	0													76.0	76.0	76.0					16																	83817049		2040	4179	6219	SO:0001819	synonymous_variant	1012			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.2106C>T	16.37:g.83817049C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V702	ENST00000566620.1	37	c.2106	CCDS58486.1	16																																																																																			CDH13	-	pfscan_Cadherin		0.522	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH13	HGNC	protein_coding	OTTHUMT00000432917.1	C	NM_001257		83817049	+1	no_errors	ENST00000566620	ensembl	human	known	70_37	silent	SNP	0.262	T
CDH15	1013	genome.wustl.edu	37	16	89251670	89251670	+	Missense_Mutation	SNP	A	A	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:89251670A>G	ENST00000289746.2	+	5	657	c.592A>G	c.(592-594)Agc>Ggc	p.S198G		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCAGCAGGGCAGCCCCGAGCT	0.667																																																	0													50.0	46.0	47.0					16																	89251670		2195	4297	6492	SO:0001583	missense	1013			D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.592A>G	16.37:g.89251670A>G	ENSP00000289746:p.Ser198Gly	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S198G	ENST00000289746.2	37	c.592	CCDS10976.1	16	.	.	.	.	.	.	.	.	.	.	A	6.993	0.553329	0.13374	.	.	ENSG00000129910	ENST00000289746	T	0.60920	0.15	4.76	-6.77	0.01727	Cadherin (4);Cadherin-like (1);	1.145820	0.06650	N	0.762573	T	0.29684	0.0741	N	0.03881	-0.34	0.09310	N	0.999999	B	0.10296	0.003	B	0.16722	0.016	T	0.40079	-0.9582	10	0.13470	T	0.59	.	13.1389	0.59424	0.7314:0.0:0.2686:0.0	.	198	P55291	CAD15_HUMAN	G	198	ENSP00000289746:S198G	ENSP00000289746:S198G	S	+	1	0	CDH15	87779171	0.002000	0.14202	0.581000	0.28614	0.091000	0.18340	0.105000	0.15333	-1.817000	0.01219	-1.489000	0.00976	AGC	CDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.667	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH15	HGNC	protein_coding	OTTHUMT00000269920.1	A	NM_004933		89251670	+1	no_errors	ENST00000289746	ensembl	human	known	70_37	missense	SNP	0.052	G
CDHR2	54825	genome.wustl.edu	37	5	176011451	176011451	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:176011451G>C	ENST00000510636.1	+	19	2443	c.2169G>C	c.(2167-2169)caG>caC	p.Q723H	CDHR2_ENST00000506348.1_Missense_Mutation_p.Q723H|CDHR2_ENST00000261944.5_Missense_Mutation_p.Q723H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	723	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACGCGGACCAGACGGAAGCCA	0.637																																																	0													99.0	100.0	100.0					5																	176011451		2203	4300	6503	SO:0001583	missense	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2169G>C	5.37:g.176011451G>C	ENSP00000424565:p.Gln723His	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q723H	ENST00000510636.1	37	c.2169	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	G	13.25	2.182016	0.38511	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.38240	1.15;1.15;1.15	5.12	4.25	0.50352	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.56558	0.1993	M	0.70275	2.135	0.50171	D	0.999856	D	0.76494	0.999	D	0.75484	0.986	T	0.59931	-0.7361	9	0.72032	D	0.01	-25.855	11.1527	0.48469	0.1499:0.0:0.8501:0.0	.	723	Q9BYE9	CDHR2_HUMAN	H	723	ENSP00000424565:Q723H;ENSP00000261944:Q723H;ENSP00000421078:Q723H	ENSP00000261944:Q723H	Q	+	3	2	CDHR2	175944057	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	1.922000	0.40045	1.295000	0.44724	0.549000	0.68633	CAG	CDHR2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.637	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	G	NM_017675		176011451	+1	no_errors	ENST00000261944	ensembl	human	known	70_37	missense	SNP	1.000	C
CDK13	8621	genome.wustl.edu	37	7	40041617	40041617	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:40041617C>G	ENST00000181839.4	+	5	2945	c.2340C>G	c.(2338-2340)ttC>ttG	p.F780L	CDK13_ENST00000340829.5_Missense_Mutation_p.F780L|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	780	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CTTTGGATTTCAAGAAGGACA	0.303																																																	0													53.0	56.0	55.0					7																	40041617		2202	4297	6499	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2340C>G	7.37:g.40041617C>G	ENSP00000181839:p.Phe780Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F780L	ENST00000181839.4	37	c.2340	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	C	19.16	3.772971	0.69992	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.74315	-0.83;-0.77	5.5	1.66	0.24008	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.71341	0.3328	N	0.20530	0.585	0.58432	D	0.999992	B;D;P	0.71674	0.309;0.998;0.756	B;D;P	0.76071	0.267;0.987;0.77	T	0.65228	-0.6219	8	.	.	.	-10.7698	6.9761	0.24677	0.0:0.4721:0.0:0.5279	.	166;780;780	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	L	780	ENSP00000181839:F780L;ENSP00000340557:F780L	.	F	+	3	2	CDK13	40008142	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.546000	0.45778	0.371000	0.24564	-0.670000	0.03821	TTC	CDK13	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.303	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	C	NM_003718		40041617	+1	no_errors	ENST00000181839	ensembl	human	known	70_37	missense	SNP	1.000	G
CDK14	5218	genome.wustl.edu	37	7	90356041	90356041	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:90356041C>G	ENST00000380050.3	+	3	415	c.284C>G	c.(283-285)tCt>tGt	p.S95C	CDK14_ENST00000265741.3_Missense_Mutation_p.S77C|CDK14_ENST00000436577.2_5'UTR|CDK14_ENST00000406263.1_Missense_Mutation_p.S49C			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	95					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AGGGTGCATTCTGAGAACAAT	0.458																																					GBM(83;1228 1256 8311 16577 31299)												0													123.0	108.0	113.0					7																	90356041		2203	4300	6503	SO:0001583	missense	5218				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.284C>G	7.37:g.90356041C>G	ENSP00000369390:p.Ser95Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S95C	ENST00000380050.3	37	c.284		7	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920986	0.52653	.	.	ENSG00000058091	ENST00000449528;ENST00000446224;ENST00000430760;ENST00000456689;ENST00000380050;ENST00000446790;ENST00000265741;ENST00000406263	T;T;T;T;T;T;T	0.71698	1.83;1.83;1.83;1.83;-0.59;-0.57;-0.56	5.7	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	L	0.27053	0.805	0.80722	D	1	P;P	0.51653	0.924;0.947	B;B	0.43360	0.394;0.417	T	0.65853	-0.6067	10	0.54805	T	0.06	-12.1539	14.9677	0.71208	0.0:0.9314:0.0:0.0686	.	77;95	O94921-2;O94921	.;CDK14_HUMAN	C	49;49;49;49;95;49;77;49	ENSP00000393616:S49C;ENSP00000410770:S49C;ENSP00000394570:S49C;ENSP00000406848:S49C;ENSP00000369390:S95C;ENSP00000265741:S77C;ENSP00000385034:S49C	ENSP00000265741:S77C	S	+	2	0	CDK14	90193977	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	7.074000	0.76791	1.425000	0.47237	0.563000	0.77884	TCT	CDK14	-	NULL		0.458	CDK14-001	KNOWN	basic|appris_principal	protein_coding	CDK14	HGNC	protein_coding	OTTHUMT00000059970.5	C	NM_012395		90356041	+1	no_errors	ENST00000380050	ensembl	human	known	70_37	missense	SNP	1.000	G
CDK18	5129	genome.wustl.edu	37	1	205501518	205501518	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:205501518C>T	ENST00000360066.2	+	0	2738				CDK18_ENST00000509056.1_3'UTR	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18								ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						ATCCTTCCTTCCCAGCCCTTG	0.652																																					Pancreas(180;489 2072 28461 40831 44265)												0																																										SO:0001624	3_prime_UTR_variant	5129			X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.*1012C>T	1.37:g.205501518C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	RNA	SNP	-	NULL	ENST00000360066.2	37	NULL	CCDS44300.1	1																																																																																			CDK18	-	-		0.652	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK18	HGNC	protein_coding	OTTHUMT00000090407.2	C	NM_002596		205501518	+1	no_errors	ENST00000509056	ensembl	human	known	70_37	rna	SNP	0.000	T
CDK5RAP2	55755	genome.wustl.edu	37	9	123165171	123165171	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:123165171C>T	ENST00000349780.4	-	34	5399	c.5220G>A	c.(5218-5220)caG>caA	p.Q1740Q	CDK5RAP2_ENST00000360822.3_Silent_p.Q1708Q|CDK5RAP2_ENST00000360190.4_Silent_p.Q1661Q|CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000359309.3_Silent_p.Q1699Q	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1740	Interaction with CDK5R1. {ECO:0000250}.|Interaction with PCNT and AKAP9.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCTGGCTGATCTGTTTGAGCA	0.577																																																	0													71.0	70.0	70.0					9																	123165171		2203	4300	6503	SO:0001819	synonymous_variant	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.5220G>A	9.37:g.123165171C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	pfam_Spindle_assoc	p.Q1740	ENST00000349780.4	37	c.5220	CCDS6823.1	9																																																																																			CDK5RAP2	-	NULL		0.577	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	C	NM_018249		123165171	-1	no_errors	ENST00000349780	ensembl	human	known	70_37	silent	SNP	1.000	T
CDKL1	8814	genome.wustl.edu	37	14	50809653	50809653	+	5'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:50809653C>T	ENST00000356146.1	-	0	2349				CDKL1_ENST00000395834.1_Intron|CDKL1_ENST00000216378.2_Intron			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)						heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GATGTCAGCTCTGTCCCACAC	0.557																																																	0													17.0	16.0	17.0					14																	50809653		876	1991	2867	SO:0001623	5_prime_UTR_variant	8814			AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000356146.1:c.-633G>A	14.37:g.50809653C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3A4|Q6QUA0|Q8WXQ5	RNA	SNP	-	NULL	ENST00000356146.1	37	NULL		14																																																																																			CDKL1	-	-		0.557	CDKL1-002	KNOWN	basic	processed_transcript	CDKL1	HGNC	protein_coding	OTTHUMT00000276873.2	C			50809653	-1	no_errors	ENST00000356146	ensembl	human	known	70_37	rna	SNP	0.998	T
CDKL1	8814	genome.wustl.edu	37	14	50845055	50845055	+	5'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:50845055G>A	ENST00000356146.1	-	0	1193				CDKL1_ENST00000395834.1_Intron|CDKL1_ENST00000216378.2_Intron			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)						heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					cttgctctgcgaggaaataac	0.507																																																	0													53.0	49.0	50.0					14																	50845055		876	1991	2867	SO:0001623	5_prime_UTR_variant	8814			AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000356146.1:c.-1789C>T	14.37:g.50845055G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3A4|Q6QUA0|Q8WXQ5	RNA	SNP	-	NULL	ENST00000356146.1	37	NULL		14																																																																																			CDKL1	-	-		0.507	CDKL1-002	KNOWN	basic	processed_transcript	CDKL1	HGNC	protein_coding	OTTHUMT00000276873.2	G			50845055	-1	no_errors	ENST00000356146	ensembl	human	known	70_37	rna	SNP	0.057	A
CDON	50937	genome.wustl.edu	37	11	125893310	125893310	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:125893310G>T	ENST00000392693.3	-	2	189	c.62C>A	c.(61-63)tCt>tAt	p.S21Y	CDON_ENST00000263577.7_Missense_Mutation_p.S21Y	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	21					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S21C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ACTCACAGAAGAGCACAGAAT	0.423																																																	1	Substitution - Missense(1)	ovary(1)											138.0	135.0	136.0					11																	125893310		2201	4299	6500	SO:0001583	missense	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.62C>A	11.37:g.125893310G>T	ENSP00000376458:p.Ser21Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O14631	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S21Y	ENST00000392693.3	37	c.62	CCDS58192.1	11	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742155	0.49151	.	.	ENSG00000064309	ENST00000392693;ENST00000263577;ENST00000531586;ENST00000527967;ENST00000534818	T;T;T;T;T	0.78364	-0.53;-0.53;0.08;-0.29;-1.17	5.65	5.65	0.86999	.	0.255981	0.28057	N	0.016775	T	0.78317	0.4264	L	0.56769	1.78	0.20074	N	0.999935	P;P;P	0.50943	0.924;0.94;0.813	P;P;B	0.48030	0.564;0.541;0.392	T	0.72824	-0.4176	10	0.39692	T	0.17	-8.4027	13.6395	0.62241	0.075:0.0:0.925:0.0	.	21;21;21	E9PRD8;Q4KMG0;Q4KMG0-2	.;CDON_HUMAN;.	Y	21	ENSP00000376458:S21Y;ENSP00000263577:S21Y;ENSP00000434212:S21Y;ENSP00000436940:S21Y;ENSP00000437176:S21Y	ENSP00000263577:S21Y	S	-	2	0	CDON	125398520	1.000000	0.71417	0.995000	0.50966	0.539000	0.34962	6.507000	0.73717	2.656000	0.90262	0.591000	0.81541	TCT	CDON	-	NULL		0.423	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	HGNC	protein_coding	OTTHUMT00000386749.2	G	NM_016952		125893310	-1	no_errors	ENST00000392693	ensembl	human	known	70_37	missense	SNP	0.398	T
CDR2L	30850	genome.wustl.edu	37	17	72995616	72995616	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:72995616G>C	ENST00000337231.5	+	2	509	c.97G>C	c.(97-99)Gag>Cag	p.E33Q		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	33												all_lung(278;0.226)					CCTAGCTGCGGAGCTGGGGAA	0.552																																																	0													71.0	55.0	61.0					17																	72995616		2195	4290	6485	SO:0001583	missense	30850				CCDS11710.2	17q25.1	2006-03-28			ENSG00000109089	ENSG00000109089			29999	protein-coding gene	gene with protein product	"""paraneoplastic antigen"""						Standard	NM_014603		Approved	HUMPPA	uc002jml.4	Q86X02	OTTHUMG00000150435	ENST00000337231.5:c.97G>C	17.37:g.72995616G>C	ENSP00000336587:p.Glu33Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFA7|Q15175	Missense_Mutation	SNP	NULL	p.E33Q	ENST00000337231.5	37	c.97	CCDS11710.2	17	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910848	0.72983	.	.	ENSG00000109089	ENST00000337231	T	0.60672	0.17	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.81088	0.4750	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84221	0.0461	10	0.72032	D	0.01	-30.5005	19.4201	0.94719	0.0:0.0:1.0:0.0	.	33	Q86X02	CDR2L_HUMAN	Q	33	ENSP00000336587:E33Q	ENSP00000336587:E33Q	E	+	1	0	CDR2L	70507211	1.000000	0.71417	0.954000	0.39281	0.111000	0.19643	5.538000	0.67193	2.667000	0.90743	0.655000	0.94253	GAG	CDR2L	-	NULL		0.552	CDR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR2L	HGNC	protein_coding	OTTHUMT00000318080.1	G	NM_014603		72995616	+1	no_errors	ENST00000337231	ensembl	human	known	70_37	missense	SNP	1.000	C
CDS2	8760	genome.wustl.edu	37	20	5171875	5171875	+	3'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:5171875C>G	ENST00000460006.1	+	0	2640				CDS2_ENST00000379070.3_3'UTR	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2						CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						ACAGTGATTTCAATTGCACCA	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	8760			AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.*995C>G	20.37:g.5171875C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	RNA	SNP	-	NULL	ENST00000460006.1	37	NULL	CCDS13088.1	20																																																																																			CDS2	-	-		0.353	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CDS2	HGNC	protein_coding	OTTHUMT00000077858.2	C			5171875	+1	no_errors	ENST00000379070	ensembl	human	known	70_37	rna	SNP	0.003	G
CDT1	81620	genome.wustl.edu	37	16	88871284	88871284	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:88871284G>A	ENST00000301019.4	+	3	1085	c.466G>A	c.(466-468)Gag>Aag	p.E156K		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1											central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CCCAGAGGCCGAGGGCCGCCC	0.721																																					Melanoma(159;511 3380 30971)												0													9.0	11.0	10.0					16																	88871284		2167	4266	6433	SO:0001583	missense	81620			AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.466G>A	16.37:g.88871284G>A	ENSP00000301019:p.Glu156Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_CDT1_Gemini-bd-like	p.E156K	ENST00000301019.4	37	c.466	CCDS32510.1	16	.	.	.	.	.	.	.	.	.	.	G	9.942	1.217743	0.22373	.	.	ENSG00000167513	ENST00000301019	T	0.60672	0.17	4.13	-4.16	0.03869	.	0.911920	0.09510	N	0.792403	T	0.37999	0.1024	L	0.46157	1.445	0.09310	N	1	B	0.27700	0.186	B	0.12837	0.008	T	0.34254	-0.9836	10	0.07644	T	0.81	.	7.1582	0.25649	0.6223:0.1456:0.2321:0.0	.	156	Q9H211	CDT1_HUMAN	K	156	ENSP00000301019:E156K	ENSP00000301019:E156K	E	+	1	0	CDT1	87398785	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-1.205000	0.03014	-0.846000	0.04174	-1.279000	0.01387	GAG	CDT1	-	NULL		0.721	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDT1	HGNC	protein_coding	OTTHUMT00000423215.1	G	NM_030928		88871284	+1	no_errors	ENST00000301019	ensembl	human	known	70_37	missense	SNP	0.000	A
CEBPA	1050	genome.wustl.edu	37	19	33792306	33792306	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:33792306G>A	ENST00000498907.2	-	1	1164	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	339	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.H200_K352>Q(1)|p.?(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					AAGATGCCCCGCAGCGTGTCC	0.682			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																															Dom	yes		19	19q13.1	1050	"""CCAAT/enhancer binding protein (C/EBP), alpha"""		L	2	Unknown(1)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(2)											22.0	25.0	24.0					19																	33792306		2196	4284	6480	SO:0001583	missense	1050	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"""basic leucine zipper proteins"""	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.1015C>T	19.37:g.33792306G>A	ENSP00000427514:p.Arg339Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A7LNP2|P78319|Q05CA4	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP	p.R339W	ENST00000498907.2	37	c.1015	CCDS54243.1	19	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545555	0.65198	.	.	ENSG00000245848	ENST00000498907	T	0.55588	0.51	4.47	0.845	0.18950	Basic-leucine zipper (bZIP) transcription factor (2);	.	.	.	.	T	0.70386	0.3218	M	0.84585	2.705	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.69087	-0.5238	9	0.87932	D	0	.	8.4057	0.32614	0.0:0.1453:0.4066:0.4482	.	339	P49715	CEBPA_HUMAN	W	339	ENSP00000427514:R339W	ENSP00000427514:R339W	R	-	1	2	CEBPA	38484146	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	1.049000	0.30392	-0.022000	0.13986	-0.521000	0.04368	CGG	CEBPA	-	smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP		0.682	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	HGNC	protein_coding	OTTHUMT00000365012.1	G	NM_004364		33792306	-1	no_errors	ENST00000498907	ensembl	human	known	70_37	missense	SNP	1.000	A
CEACAM6	4680	genome.wustl.edu	37	19	42259575	42259575	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:42259575G>A	ENST00000199764.6	+	1	247	c.29G>A	c.(28-30)aGa>aAa	p.R10K	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	10					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCTCCCTGCAGATTGCATGTC	0.612																																																	0													87.0	82.0	83.0					19																	42259575		2203	4300	6503	SO:0001583	missense	4680			M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.29G>A	19.37:g.42259575G>A	ENSP00000199764:p.Arg10Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R10K	ENST00000199764.6	37	c.29	CCDS12585.1	19	.	.	.	.	.	.	.	.	.	.	G	6.221	0.408872	0.11812	.	.	ENSG00000086548	ENST00000199764	T	0.19806	2.12	1.49	-1.13	0.09775	.	.	.	.	.	T	0.14743	0.0356	L	0.48260	1.515	0.09310	N	1	B	0.14438	0.01	B	0.16722	0.016	T	0.36065	-0.9763	9	0.21014	T	0.42	.	4.4396	0.11568	0.4054:0.0:0.5946:0.0	.	10	P40199	CEAM6_HUMAN	K	10	ENSP00000199764:R10K	ENSP00000199764:R10K	R	+	2	0	CEACAM6	46951415	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.007000	0.13174	-0.203000	0.10251	-0.704000	0.03662	AGA	CEACAM6	-	NULL		0.612	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM6	HGNC	protein_coding	OTTHUMT00000321147.1	G			42259575	+1	no_errors	ENST00000199764	ensembl	human	known	70_37	missense	SNP	0.003	A
CECR1	51816	genome.wustl.edu	37	22	17687984	17687984	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:17687984C>G	ENST00000399839.1	-	3	789	c.519G>C	c.(517-519)caG>caC	p.Q173H	CECR1_ENST00000399837.2_Missense_Mutation_p.Q173H|CECR1_ENST00000449907.2_Missense_Mutation_p.Q131H|CECR1_ENST00000262607.3_Missense_Mutation_p.Q173H	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	173	PRB domain.				adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CAGTGACGTTCTGCACCCGCT	0.512																																																	0													113.0	94.0	101.0					22																	17687984		2203	4300	6503	SO:0001583	missense	51816			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.519G>C	22.37:g.17687984C>G	ENSP00000382733:p.Gln173His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like	p.Q173H	ENST00000399839.1	37	c.519	CCDS13742.1	22	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327716	0.24080	.	.	ENSG00000093072	ENST00000399839;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	4.34	-0.602	0.11634	.	0.703228	0.13353	N	0.394261	T	0.67154	0.2863	L	0.44542	1.39	0.09310	N	1	P	0.37594	0.601	B	0.30401	0.115	T	0.58973	-0.7541	10	0.48119	T	0.1	.	0.4195	0.00453	0.244:0.2826:0.2396:0.2338	.	173	Q9NZK5	CECR1_HUMAN	H	173;173;131;173	ENSP00000382733:Q173H;ENSP00000262607:Q173H;ENSP00000406443:Q131H;ENSP00000382731:Q173H	ENSP00000262607:Q173H	Q	-	3	2	CECR1	16067984	0.000000	0.05858	0.004000	0.12327	0.255000	0.26057	-0.083000	0.11286	-0.032000	0.13758	0.555000	0.69702	CAG	CECR1	-	tigrfam_Ad_deam-like		0.512	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CECR1	HGNC	protein_coding	OTTHUMT00000316079.1	C			17687984	-1	no_errors	ENST00000262607	ensembl	human	known	70_37	missense	SNP	0.001	G
CECR1	51816	genome.wustl.edu	37	22	17688135	17688135	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:17688135C>T	ENST00000399839.1	-	3	638	c.368G>A	c.(367-369)tGg>tAg	p.W123*	CECR1_ENST00000399837.2_Nonsense_Mutation_p.W123*|CECR1_ENST00000449907.2_Nonsense_Mutation_p.W81*|CECR1_ENST00000262607.3_Nonsense_Mutation_p.W123*	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	123					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CCTCACCAGCCAGTCCATAGT	0.547																																																	0													108.0	103.0	105.0					22																	17688135		2203	4300	6503	SO:0001587	stop_gained	51816			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.368G>A	22.37:g.17688135C>T	ENSP00000382733:p.Trp123*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Nonsense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like	p.W123*	ENST00000399839.1	37	c.368	CCDS13742.1	22	.	.	.	.	.	.	.	.	.	.	C	37	6.172949	0.97348	.	.	ENSG00000093072	ENST00000399839;ENST00000262607;ENST00000449907;ENST00000399837;ENST00000543038;ENST00000441548	.	.	.	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.433	0.83860	0.0:1.0:0.0:0.0	.	.	.	.	X	123;123;81;123;123;123	.	ENSP00000262607:W123X	W	-	2	0	CECR1	16068135	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.368000	0.73104	1.940000	0.56252	0.555000	0.69702	TGG	CECR1	-	tigrfam_Ad_deam-like		0.547	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CECR1	HGNC	protein_coding	OTTHUMT00000316079.1	C			17688135	-1	no_errors	ENST00000262607	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CELP	1057	genome.wustl.edu	37	9	135960313	135960313	+	RNA	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:135960313C>T	ENST00000411440.2	+	0	362					NR_001275.2				carboxyl ester lipase pseudogene																		TACACCGAGTCCTGGGCCCAG	0.562																																																	0																																												1057			L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135960313C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000411440.2	37	NULL		9																																																																																			CELP	-	-		0.562	CELP-002	KNOWN	basic	processed_transcript	CELP	HGNC	pseudogene	OTTHUMT00000339837.1	C	NM_001808		135960313	+1	no_errors	ENST00000411440	ensembl	human	known	70_37	rna	SNP	0.316	T
CELSR2	1952	genome.wustl.edu	37	1	109803758	109803758	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:109803758C>T	ENST00000271332.3	+	3	4114	c.4053C>T	c.(4051-4053)ttC>ttT	p.F1351F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1351	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGGGCGGTTTCAAGTGCGATT	0.632																																					NSCLC(158;1285 2011 34800 34852 42084)												0													100.0	96.0	97.0					1																	109803758		2203	4300	6503	SO:0001819	synonymous_variant	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4053C>T	1.37:g.109803758C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T2Y7|Q92566	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.F1351	ENST00000271332.3	37	c.4053	CCDS796.1	1																																																																																			CELSR2	-	superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom		0.632	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	C	NM_001408		109803758	+1	no_errors	ENST00000271332	ensembl	human	known	70_37	silent	SNP	1.000	T
CEND1	51286	genome.wustl.edu	37	11	788163	788163	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:788163C>T	ENST00000330106.4	-	2	589	c.414G>A	c.(412-414)ctG>ctA	p.L138L	CEND1_ENST00000524587.1_5'Flank	NM_016564.3	NP_057648.2	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	138					adult walking behavior (GO:0007628)|cerebellar granular layer maturation (GO:0021686)|cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|radial glia guided migration of cerebellar granule cell (GO:0021933)	integral component of membrane (GO:0016021)				prostate(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACCGAGAATCAGGGCTATGG	0.652																																																	0													12.0	14.0	14.0					11																	788163		2188	4286	6474	SO:0001819	synonymous_variant	51286			AK074547	CCDS7714.1	11p15.5	2006-06-14			ENSG00000184524	ENSG00000184524			24153	protein-coding gene	gene with protein product		608213				11311134	Standard	NM_016564		Approved	FLJ90066, BM88	uc001lrh.1	Q8N111	OTTHUMG00000133308	ENST00000330106.4:c.414G>A	11.37:g.788163C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NYM6	Silent	SNP	NULL	p.L138	ENST00000330106.4	37	c.414	CCDS7714.1	11																																																																																			CEND1	-	NULL		0.652	CEND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEND1	HGNC	protein_coding	OTTHUMT00000257105.1	C	NM_016564		788163	-1	no_errors	ENST00000330106	ensembl	human	known	70_37	silent	SNP	0.959	T
CENPE	1062	genome.wustl.edu	37	4	104061469	104061469	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:104061469G>C	ENST00000265148.3	-	37	5946	c.5857C>G	c.(5857-5859)Caa>Gaa	p.Q1953E	CENPE_ENST00000380026.3_Missense_Mutation_p.Q1928E	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1953					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTGAAATTTGAATTGTCTTT	0.299																																																	0													83.0	92.0	89.0					4																	104061469		2203	4292	6495	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.5857C>G	4.37:g.104061469G>C	ENSP00000265148:p.Gln1953Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q1953E	ENST00000265148.3	37	c.5857	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	G	6.414	0.444540	0.12164	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.70282	-0.47;-0.47	5.22	2.47	0.30058	.	.	.	.	.	T	0.47875	0.1469	N	0.16790	0.44	0.09310	N	1	B;B	0.22604	0.005;0.072	B;B	0.18871	0.011;0.023	T	0.27400	-1.0075	9	0.02654	T	1	.	9.7962	0.40737	0.0:0.4311:0.4211:0.1478	.	1928;1953	Q02224-3;Q02224	.;CENPE_HUMAN	E	1953;1953;1928	ENSP00000265148:Q1953E;ENSP00000369365:Q1928E	ENSP00000265148:Q1953E	Q	-	1	0	CENPE	104280918	0.036000	0.19791	0.001000	0.08648	0.321000	0.28281	1.070000	0.30653	0.179000	0.19938	0.643000	0.83706	CAA	CENPE	-	NULL		0.299	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		G			104061469	-1	no_errors	ENST00000265148	ensembl	human	known	70_37	missense	SNP	0.003	C
CENPE	1062	genome.wustl.edu	37	4	104065773	104065773	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:104065773C>T	ENST00000265148.3	-	33	4949	c.4860G>A	c.(4858-4860)atG>atA	p.M1620I	CENPE_ENST00000380026.3_Missense_Mutation_p.M1595I	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1620					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GAGATTCTTTCATCTGAGAAA	0.308																																																	0													32.0	32.0	32.0					4																	104065773		2200	4296	6496	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4860G>A	4.37:g.104065773C>T	ENSP00000265148:p.Met1620Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M1620I	ENST00000265148.3	37	c.4860	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	4.096	0.015864	0.07959	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.64618	0.05;-0.11	4.61	-7.12	0.01537	.	.	.	.	.	T	0.22085	0.0532	N	0.01209	-0.955	0.19775	N	0.999958	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.11665	-1.0578	9	0.27785	T	0.31	.	1.0119	0.01499	0.2745:0.3232:0.2128:0.1896	.	1595;1620	Q02224-3;Q02224	.;CENPE_HUMAN	I	1620;1620;1595	ENSP00000265148:M1620I;ENSP00000369365:M1595I	ENSP00000265148:M1620I	M	-	3	0	CENPE	104285222	0.008000	0.16893	0.474000	0.27266	0.395000	0.30598	-1.112000	0.03299	-1.338000	0.02233	0.544000	0.68410	ATG	CENPE	-	NULL		0.308	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		C			104065773	-1	no_errors	ENST00000265148	ensembl	human	known	70_37	missense	SNP	0.475	T
CENPF	1063	genome.wustl.edu	37	1	214788402	214788402	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:214788402G>A	ENST00000366955.3	+	3	527					NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa						cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTATAGGGATGATATTTGTAT	0.294																																					Colon(80;575 1284 11000 14801 43496)												0													36.0	37.0	37.0					1																	214788402		2202	4293	6495	SO:0001627	intron_variant	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.359+31G>A	1.37:g.214788402G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13171|Q13246|Q5VVM7	RNA	SNP	-	NULL	ENST00000366955.3	37	NULL	CCDS31023.1	1																																																																																			CENPF	-	-		0.294	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	G	NM_016343		214788402	+1	no_errors	ENST00000464322	ensembl	human	known	70_37	rna	SNP	0.000	A
CENPF	1063	genome.wustl.edu	37	1	214813659	214813659	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:214813659G>A	ENST00000366955.3	+	12	2146	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAAAAGTCATGAATACAACGA	0.383																																					Colon(80;575 1284 11000 14801 43496)												0													51.0	50.0	50.0					1																	214813659		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1978G>A	1.37:g.214813659G>A	ENSP00000355922:p.Glu660Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.E660K	ENST00000366955.3	37	c.1978	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509401	0.85282	.	.	ENSG00000117724	ENST00000366955	T	0.03951	3.75	5.69	5.69	0.88448	.	0.190810	0.25741	N	0.028618	T	0.12390	0.0301	.	.	.	0.34923	D	0.748649	D	0.63880	0.993	P	0.51777	0.679	T	0.03453	-1.1035	9	0.41790	T	0.15	.	18.0081	0.89215	0.0:0.0:1.0:0.0	.	660	P49454	CENPF_HUMAN	K	660	ENSP00000355922:E660K	ENSP00000355922:E660K	E	+	1	0	CENPF	212880282	1.000000	0.71417	0.372000	0.25991	0.991000	0.79684	5.434000	0.66526	2.678000	0.91216	0.609000	0.83330	GAA	CENPF	-	NULL		0.383	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	G	NM_016343		214813659	+1	no_errors	ENST00000366955	ensembl	human	known	70_37	missense	SNP	0.820	A
CENPF	1063	genome.wustl.edu	37	1	214814304	214814304	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:214814304C>G	ENST00000366955.3	+	12	2791	c.2623C>G	c.(2623-2625)Caa>Gaa	p.Q875E		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACAGATGCATCAAAGTTTTGT	0.403																																					Colon(80;575 1284 11000 14801 43496)												0													50.0	51.0	51.0					1																	214814304		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.2623C>G	1.37:g.214814304C>G	ENSP00000355922:p.Gln875Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.Q875E	ENST00000366955.3	37	c.2623	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	C	5.458	0.269558	0.10349	.	.	ENSG00000117724	ENST00000366955	T	0.02890	4.12	5.38	2.23	0.28157	.	0.000000	0.36409	N	0.002620	T	0.01940	0.0061	.	.	.	0.23435	N	0.997688	B	0.18968	0.032	B	0.15484	0.013	T	0.48080	-0.9066	9	0.12766	T	0.61	.	12.1627	0.54113	0.1707:0.325:0.5043:0.0	.	875	P49454	CENPF_HUMAN	E	875	ENSP00000355922:Q875E	ENSP00000355922:Q875E	Q	+	1	0	CENPF	212880927	0.996000	0.38824	0.997000	0.53966	0.997000	0.91878	0.851000	0.27751	0.587000	0.29643	0.609000	0.83330	CAA	CENPF	-	NULL		0.403	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	C	NM_016343		214814304	+1	no_errors	ENST00000366955	ensembl	human	known	70_37	missense	SNP	0.758	G
CENPN	55839	genome.wustl.edu	37	16	81050974	81050974	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:81050974G>C	ENST00000305850.5	+	4	1051	c.261G>C	c.(259-261)caG>caC	p.Q87H	CMC2_ENST00000565914.1_Intron|CENPN_ENST00000439957.3_Intron|RP11-303E16.3_ENST00000562315.1_RNA|CENPN_ENST00000569461.1_Intron|CENPN_ENST00000428963.2_Missense_Mutation_p.Q87H|CENPN_ENST00000299572.5_Missense_Mutation_p.Q87H|CENPN_ENST00000393335.3_Missense_Mutation_p.Q87H	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	87					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|large_intestine(5)|lung(4)	10						AAGTTTTTCAGATGAGTAAAG	0.373																																																	0													104.0	109.0	107.0					16																	81050974		2202	4300	6502	SO:0001583	missense	55839			AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"""chromosome 16 open reading frame 60"""	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000305850.5:c.261G>C	16.37:g.81050974G>C	ENSP00000305608:p.Gln87His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Missense_Mutation	SNP	pfam_CHL4	p.Q87H	ENST00000305850.5	37	c.261	CCDS42200.1	16	.	.	.	.	.	.	.	.	.	.	G	9.894	1.204953	0.22205	.	.	ENSG00000166451	ENST00000305850;ENST00000299572;ENST00000393335;ENST00000428963	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.58	-2.33	0.06724	.	0.356788	0.32578	N	0.005916	T	0.15262	0.0368	L	0.47716	1.5	0.39094	D	0.961157	B;B;B;B	0.12630	0.005;0.006;0.002;0.004	B;B;B;B	0.14023	0.01;0.007;0.003;0.006	T	0.06110	-1.0845	10	0.37606	T	0.19	0.0245	2.1991	0.03918	0.2747:0.3266:0.289:0.1098	.	87;87;87;87	E7ES30;A8MZE6;Q96H22;Q96H22-2	.;.;CENPN_HUMAN;.	H	87	ENSP00000305608:Q87H;ENSP00000299572:Q87H;ENSP00000377007:Q87H;ENSP00000393991:Q87H	ENSP00000299572:Q87H	Q	+	3	2	CENPN	79608475	1.000000	0.71417	0.987000	0.45799	0.572000	0.35998	0.468000	0.22051	-0.201000	0.10284	-0.274000	0.10170	CAG	CENPN	-	pfam_CHL4		0.373	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	CENPN	HGNC	protein_coding	OTTHUMT00000269051.1	G	NM_018455		81050974	+1	no_errors	ENST00000299572	ensembl	human	known	70_37	missense	SNP	0.941	C
CENPQ	55166	genome.wustl.edu	37	6	49456095	49456095	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:49456095G>A	ENST00000335783.3	+	7	602	c.508G>A	c.(508-510)Gag>Aag	p.E170K		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	170					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					AGAGACCACAGAGTTAATGAC	0.308																																																	0													65.0	70.0	68.0					6																	49456095		2203	4297	6500	SO:0001583	missense	55166			AK001407	CCDS4925.1	6p12.3	2013-11-05	2006-06-15	2006-06-15	ENSG00000031691	ENSG00000031691			21347	protein-coding gene	gene with protein product		611506	"""chromosome 6 open reading frame 139"""	C6orf139		16622420, 16622419	Standard	NM_018132		Approved	FLJ10545, CENP-Q	uc003ozh.1	Q7L2Z9	OTTHUMG00000014815	ENST00000335783.3:c.508G>A	6.37:g.49456095G>A	ENSP00000337289:p.Glu170Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAF1|Q6IN61|Q9NVS5	Missense_Mutation	SNP	NULL	p.E170K	ENST00000335783.3	37	c.508	CCDS4925.1	6	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555839	0.45487	.	.	ENSG00000031691	ENST00000335783;ENST00000371200	T	0.51325	0.71	5.73	3.81	0.43845	.	0.329934	0.30101	N	0.010412	T	0.49012	0.1532	M	0.71581	2.175	0.09310	N	0.999997	D	0.63046	0.992	P	0.62740	0.906	T	0.39482	-0.9612	10	0.66056	D	0.02	-5.626	8.932	0.35677	0.0:0.163:0.668:0.169	.	170	Q7L2Z9	CENPQ_HUMAN	K	170	ENSP00000337289:E170K	ENSP00000337289:E170K	E	+	1	0	CENPQ	49564054	0.965000	0.33210	0.079000	0.20413	0.348000	0.29142	2.405000	0.44548	1.542000	0.49330	0.644000	0.83932	GAG	CENPQ	-	NULL		0.308	CENPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPQ	HGNC	protein_coding	OTTHUMT00000040855.2	G	NM_018132		49456095	+1	no_errors	ENST00000335783	ensembl	human	known	70_37	missense	SNP	0.126	A
CEP152	22995	genome.wustl.edu	37	15	49090193	49090193	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:49090193G>A	ENST00000380950.2	-	3	330	c.143C>T	c.(142-144)tCt>tTt	p.S48F	CEP152_ENST00000399334.3_Missense_Mutation_p.S48F|CEP152_ENST00000325747.5_Missense_Mutation_p.S48F	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	48					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GAGCTCTGGAGAGGAGAGGTC	0.453																																																	0													74.0	78.0	77.0					15																	49090193		2055	4193	6248	SO:0001583	missense	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.143C>T	15.37:g.49090193G>A	ENSP00000370337:p.Ser48Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.S48F	ENST00000380950.2	37	c.143	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331323	0.81690	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.65916	1.95;-0.18;1.95	5.56	5.56	0.83823	.	0.107612	0.64402	D	0.000004	T	0.79730	0.4496	M	0.72894	2.215	0.36782	D	0.884403	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.98	T	0.82198	-0.0576	10	0.54805	T	0.06	-7.5519	19.8818	0.96901	0.0:0.0:1.0:0.0	.	48;48;48	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	F	48	ENSP00000370337:S48F;ENSP00000321000:S48F;ENSP00000382271:S48F	ENSP00000321000:S48F	S	-	2	0	CEP152	46877485	1.000000	0.71417	0.997000	0.53966	0.596000	0.36781	7.911000	0.87458	2.771000	0.95319	0.643000	0.83706	TCT	CEP152	-	NULL		0.453	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	G	NM_014985		49090193	-1	no_errors	ENST00000380950	ensembl	human	known	70_37	missense	SNP	1.000	A
CEP170	9859	genome.wustl.edu	37	1	243327601	243327601	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:243327601G>C	ENST00000366542.1	-	13	3712	c.3661C>G	c.(3661-3663)Cat>Gat	p.H1221D	RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366544.1_Missense_Mutation_p.H1123D|CEP170_ENST00000366543.1_Missense_Mutation_p.H1123D|RP11-261C10.4_ENST00000422938.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1221	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GCAGAGCCATGAGCTGAGGTC	0.378																																																	0													67.0	60.0	62.0					1																	243327601		1839	4095	5934	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3661C>G	1.37:g.243327601G>C	ENSP00000355500:p.His1221Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.H1221D	ENST00000366542.1	37	c.3661	CCDS44339.1	1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183807	0.38609	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000532008;ENST00000413359	T;T;T;T	0.47528	0.95;0.94;0.84;2.0	4.96	4.96	0.65561	.	0.052620	0.85682	D	0.000000	T	0.50582	0.1624	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.69078	0.997;0.984;0.984;0.994	D;D;D;D	0.81914	0.995;0.964;0.964;0.985	T	0.45145	-0.9281	10	0.17369	T	0.5	-11.6005	17.5596	0.87902	0.0:0.0:1.0:0.0	.	1184;1123;1123;1221	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.;.;.;CE170_HUMAN	D	1221;1123;1123;182;66	ENSP00000355500:H1221D;ENSP00000355502:H1123D;ENSP00000355501:H1123D;ENSP00000394002:H66D	ENSP00000355500:H1221D	H	-	1	0	CEP170	241394224	1.000000	0.71417	0.948000	0.38648	0.979000	0.70002	5.486000	0.66856	2.436000	0.82500	0.555000	0.69702	CAT	CEP170	-	NULL		0.378	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	G	NM_014812		243327601	-1	no_errors	ENST00000366542	ensembl	human	known	70_37	missense	SNP	0.994	C
CEP250	11190	genome.wustl.edu	37	20	34095599	34095599	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:34095599G>C	ENST00000397527.1	+	31	7389	c.6669G>C	c.(6667-6669)gaG>gaC	p.E2223D	CEP250_ENST00000342580.4_Missense_Mutation_p.E2167D	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2223					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGGCTCTGGAGAAGGAGCGGC	0.602																																																	0													32.0	27.0	29.0					20																	34095599		2182	4272	6454	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6669G>C	20.37:g.34095599G>C	ENSP00000380661:p.Glu2223Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.E2223D	ENST00000397527.1	37	c.6669	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308273	0.40895	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.55588	2.7;2.67;0.51	4.27	3.31	0.37934	.	0.275088	0.25951	N	0.027257	T	0.67192	0.2867	M	0.75447	2.3	0.24531	N	0.994112	D	0.71674	0.998	D	0.77557	0.99	T	0.57528	-0.7796	10	0.87932	D	0	.	7.2212	0.25988	0.1233:0.0:0.8767:0.0	.	2223	Q9BV73	CP250_HUMAN	D	2223;2167;711	ENSP00000380661:E2223D;ENSP00000341541:E2167D;ENSP00000395992:E711D	ENSP00000341541:E2167D	E	+	3	2	CEP250	33559013	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	0.935000	0.28924	1.024000	0.39682	0.579000	0.79373	GAG	CEP250	-	NULL		0.602	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	G	NM_007186		34095599	+1	no_errors	ENST00000397527	ensembl	human	known	70_37	missense	SNP	1.000	C
CEP350	9857	genome.wustl.edu	37	1	179993679	179993679	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:179993679C>G	ENST00000367607.3	+	14	3930	c.3512C>G	c.(3511-3513)tCt>tGt	p.S1171C		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1171	Ser-rich.				microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCATCTACTTCTTCTAAAGGA	0.393																																																	0													66.0	57.0	60.0					1																	179993679		2203	4300	6503	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3512C>G	1.37:g.179993679C>G	ENSP00000356579:p.Ser1171Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.S1171C	ENST00000367607.3	37	c.3512	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364411	0.82463	.	.	ENSG00000135837	ENST00000367607	T	0.62232	0.04	5.61	5.61	0.85477	.	0.156481	0.29972	N	0.010733	T	0.63022	0.2476	L	0.29908	0.895	0.35941	D	0.833201	D;D	0.61697	0.983;0.99	P;P	0.54499	0.671;0.754	T	0.66980	-0.5786	9	.	.	.	.	16.3698	0.83350	0.0:1.0:0.0:0.0	.	1171;1171	E7EU22;Q5VT06	.;CE350_HUMAN	C	1171	ENSP00000356579:S1171C	.	S	+	2	0	CEP350	178260302	0.999000	0.42202	0.972000	0.41901	0.946000	0.59487	4.832000	0.62759	2.635000	0.89317	0.563000	0.77884	TCT	CEP350	-	NULL		0.393	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	C	NM_014810		179993679	+1	no_errors	ENST00000367607	ensembl	human	known	70_37	missense	SNP	0.998	G
CEP63	80254	genome.wustl.edu	37	3	134278115	134278115	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:134278115G>A	ENST00000337090.3	+	14	1970	c.1797G>A	c.(1795-1797)ctG>ctA	p.L599L	CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Silent_p.L599L|CEP63_ENST00000606977.1_Silent_p.L599L|CEP63_ENST00000354446.3_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	599					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TAAGCCCCCTGAGTCCTCAAA	0.453																																																	0													180.0	176.0	177.0					3																	134278115		2203	4300	6503	SO:0001819	synonymous_variant	80254			AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1797G>A	3.37:g.134278115G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Silent	SNP	NULL	p.L599	ENST00000337090.3	37	c.1797	CCDS3086.1	3																																																																																			CEP63	-	NULL		0.453	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP63	HGNC	protein_coding	OTTHUMT00000470139.1	G	NM_025180		134278115	+1	no_errors	ENST00000337090	ensembl	human	known	70_37	silent	SNP	0.303	A
CEP68	23177	genome.wustl.edu	37	2	65299104	65299104	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:65299104C>G	ENST00000377990.2	+	3	1077	c.874C>G	c.(874-876)Ctc>Gtc	p.L292V	CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000546106.1_Missense_Mutation_p.L292V|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.L292V	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	292					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCACTCCCCTCTCTGGAACCC	0.582																																																	0													75.0	86.0	82.0					2																	65299104		2203	4300	6503	SO:0001583	missense	23177			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.874C>G	2.37:g.65299104C>G	ENSP00000367229:p.Leu292Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	NULL	p.L292V	ENST00000377990.2	37	c.874	CCDS1880.2	2	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432319	0.62844	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.15834	2.41;2.4;2.39	5.12	5.12	0.69794	.	0.430671	0.25433	N	0.030719	T	0.41834	0.1176	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.996;0.998;0.999	D;D;P;D;D	0.71414	0.957;0.957;0.895;0.957;0.973	T	0.06972	-1.0797	10	0.33141	T	0.24	-19.8027	18.7499	0.91810	0.0:1.0:0.0:0.0	.	280;292;292;292;292	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	V	292;292;292;280	ENSP00000367229:L292V;ENSP00000438306:L292V;ENSP00000260569:L292V	ENSP00000260569:L292V	L	+	1	0	CEP68	65152608	0.836000	0.29430	0.956000	0.39512	0.809000	0.45718	1.533000	0.36040	2.662000	0.90505	0.484000	0.47621	CTC	CEP68	-	NULL		0.582	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP68	HGNC	protein_coding	OTTHUMT00000251727.2	C	NM_015147		65299104	+1	no_errors	ENST00000377990	ensembl	human	known	70_37	missense	SNP	0.964	G
CEP68	23177	genome.wustl.edu	37	2	65305035	65305035	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:65305035C>G	ENST00000377990.2	+	5	2244	c.2041C>G	c.(2041-2043)Ctg>Gtg	p.L681V	CEP68_ENST00000546106.1_Intron|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Missense_Mutation_p.L544V	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	681					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						ACATCAGTCTCTGACGGAGAG	0.398																																																	0													89.0	90.0	90.0					2																	65305035		2203	4300	6503	SO:0001583	missense	23177			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.2041C>G	2.37:g.65305035C>G	ENSP00000367229:p.Leu681Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	NULL	p.L681V	ENST00000377990.2	37	c.2041	CCDS1880.2	2	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303960	0.60305	.	.	ENSG00000011523	ENST00000377990;ENST00000260569	T;T	0.51325	0.71;0.71	5.86	3.11	0.35812	.	0.000000	0.64402	D	0.000020	T	0.63094	0.2482	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.61681	-0.7013	10	0.62326	D	0.03	-11.2658	9.7407	0.40416	0.0:0.7987:0.0:0.2013	.	681;544	Q76N32;Q76N32-2	CEP68_HUMAN;.	V	681;544	ENSP00000367229:L681V;ENSP00000260569:L544V	ENSP00000260569:L544V	L	+	1	2	CEP68	65158539	0.918000	0.31147	0.998000	0.56505	0.735000	0.41995	1.028000	0.30128	0.394000	0.25230	0.563000	0.77884	CTG	CEP68	-	NULL		0.398	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP68	HGNC	protein_coding	OTTHUMT00000251727.2	C	NM_015147		65305035	+1	no_errors	ENST00000377990	ensembl	human	known	70_37	missense	SNP	0.999	G
CEP70	80321	genome.wustl.edu	37	3	138248112	138248112	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:138248112G>C	ENST00000264982.3	-	10	1064	c.798C>G	c.(796-798)ctC>ctG	p.L266L	CEP70_ENST00000478673.1_5'Flank|CEP70_ENST00000542237.1_Silent_p.L246L|CEP70_ENST00000484888.1_Silent_p.L266L|CEP70_ENST00000481834.1_Silent_p.L266L|CEP70_ENST00000489254.1_Silent_p.L114L	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	266					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTGATTCCTTGAGTTGATTCT	0.284																																																	0													79.0	79.0	79.0					3																	138248112		2203	4300	6503	SO:0001819	synonymous_variant	80321			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.798C>G	3.37:g.138248112G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Silent	SNP	pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L266	ENST00000264982.3	37	c.798	CCDS3102.1	3																																																																																			CEP70	-	NULL		0.284	CEP70-001	KNOWN	basic|CCDS	protein_coding	CEP70	HGNC	protein_coding	OTTHUMT00000358001.1	G	NM_024491		138248112	-1	no_errors	ENST00000264982	ensembl	human	known	70_37	silent	SNP	0.076	C
CERCAM	51148	genome.wustl.edu	37	9	131186797	131186797	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:131186797G>A	ENST00000372838.4	+	5	1068	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	CERCAM_ENST00000372842.1_Missense_Mutation_p.E146K	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	224					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CCTGCGGGCTGAAGGGGCAGA	0.627																																																	0													114.0	99.0	104.0					9																	131186797		2203	4300	6503	SO:0001583	missense	51148			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.670G>A	9.37:g.131186797G>A	ENSP00000361929:p.Glu224Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	pfam_Glyco_trans_25	p.E224K	ENST00000372838.4	37	c.670	CCDS6901.2	9	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389272	0.42410	.	.	ENSG00000167123	ENST00000372842;ENST00000420512;ENST00000372838;ENST00000413863	T;T;T	0.20200	2.09;2.09;2.09	5.43	1.43	0.22495	.	0.222920	0.44902	N	0.000409	T	0.15912	0.0383	L	0.52206	1.635	0.44694	D	0.997686	B	0.06786	0.001	B	0.06405	0.002	T	0.08493	-1.0719	10	0.24483	T	0.36	-10.7502	6.8774	0.24155	0.2198:0.1254:0.6548:0.0	.	224	Q5T4B2	GT253_HUMAN	K	146;146;224;177	ENSP00000361933:E146K;ENSP00000416676:E146K;ENSP00000361929:E224K	ENSP00000361929:E224K	E	+	1	0	CERCAM	130226618	1.000000	0.71417	0.130000	0.21974	0.579000	0.36224	3.807000	0.55591	0.259000	0.21709	-0.499000	0.04595	GAA	CERCAM	-	NULL		0.627	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CERCAM	HGNC	protein_coding	OTTHUMT00000054435.2	G	NM_016174		131186797	+1	no_errors	ENST00000372838	ensembl	human	known	70_37	missense	SNP	0.945	A
CERCAM	51148	genome.wustl.edu	37	9	131193546	131193546	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:131193546G>A	ENST00000372838.4	+	9	1565	c.1167G>A	c.(1165-1167)gtG>gtA	p.V389V	RP11-339B21.10_ENST00000610052.1_RNA|CERCAM_ENST00000372842.1_Silent_p.V311V	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	389					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						AGGGCGAGGTGGGCTGCTTCC	0.602																																																	0													82.0	82.0	82.0					9																	131193546		2203	4300	6503	SO:0001819	synonymous_variant	51148			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1167G>A	9.37:g.131193546G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Silent	SNP	pfam_Glyco_trans_25	p.V389	ENST00000372838.4	37	c.1167	CCDS6901.2	9																																																																																			CERCAM	-	pfam_Glyco_trans_25		0.602	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CERCAM	HGNC	protein_coding	OTTHUMT00000054435.2	G	NM_016174		131193546	+1	no_errors	ENST00000372838	ensembl	human	known	70_37	silent	SNP	1.000	A
CERS3	204219	genome.wustl.edu	37	15	101042036	101042036	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:101042036C>G	ENST00000394113.1	-	5	709	c.19G>C	c.(19-21)Gaa>Caa	p.E7Q	CERS3_ENST00000284382.4_Missense_Mutation_p.E7Q|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Missense_Mutation_p.E7Q			Q8IU89	CERS3_HUMAN	ceramide synthase 3	7					ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CAGAACCATTCTTTAAACGTC	0.373																																																	0													88.0	80.0	83.0					15																	101042036		2203	4300	6503	SO:0001583	missense	204219				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.19G>C	15.37:g.101042036C>G	ENSP00000377672:p.Glu7Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NE64|Q8NEN6	Missense_Mutation	SNP	pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeodomain	p.E7Q	ENST00000394113.1	37	c.19	CCDS10384.1	15	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873685	0.51695	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	T;T	0.75589	-0.95;-0.95	5.19	4.27	0.50696	.	0.375970	0.28114	N	0.016543	T	0.65112	0.2660	L	0.55103	1.725	0.35801	D	0.823129	B	0.32245	0.361	B	0.25140	0.058	T	0.69881	-0.5025	10	0.41790	T	0.15	-11.9545	9.2025	0.37268	0.0:0.8971:0.0:0.1029	.	7	Q8IU89	CERS3_HUMAN	Q	7;18;7	ENSP00000284382:E7Q;ENSP00000437640:E7Q	ENSP00000284382:E7Q	E	-	1	0	CERS3	98859559	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.054000	0.49908	1.293000	0.44690	0.650000	0.86243	GAA	CERS3	-	pirsf_Longevity_assurance_LAG1_LAC1		0.373	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	CERS3	HGNC	protein_coding	OTTHUMT00000313594.4	C	NM_178842		101042036	-1	no_errors	ENST00000284382	ensembl	human	known	70_37	missense	SNP	1.000	G
CFDP1	10428	genome.wustl.edu	37	16	75338926	75338926	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:75338926C>G	ENST00000283882.3	-	6	937	c.805G>C	c.(805-807)Gag>Cag	p.E269Q		NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	269	BCNT-C. {ECO:0000255|PROSITE- ProRule:PRU00610}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						TCTTACCCCTCTTTCCCTCGA	0.468																																																	0													165.0	161.0	162.0					16																	75338926		2198	4300	6498	SO:0001583	missense	10428			AB009285	CCDS10916.1	16q22.2-q22.3	2011-08-12			ENSG00000153774	ENSG00000153774			1873	protein-coding gene	gene with protein product	"""Bucentaur"", ""centromere protein 29"""	608108				9602175, 9006920, 11992732	Standard	NM_006324		Approved	BCNT, p97, CP27, SWC5, Yeti, CENP-29	uc002fdy.3	Q9UEE9	OTTHUMG00000137615	ENST00000283882.3:c.805G>C	16.37:g.75338926C>G	ENSP00000283882:p.Glu269Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8	Missense_Mutation	SNP	pfam_BCNT	p.E269Q	ENST00000283882.3	37	c.805	CCDS10916.1	16	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360838	0.61403	.	.	ENSG00000153774	ENST00000283882	T	0.48522	0.81	5.83	5.83	0.93111	.	0.252589	0.37955	N	0.001875	T	0.48277	0.1491	L	0.43152	1.355	0.45161	D	0.99817	P;P	0.36086	0.476;0.536	B;B	0.40329	0.326;0.306	T	0.38373	-0.9664	10	0.40728	T	0.16	.	18.6994	0.91615	0.0:1.0:0.0:0.0	.	269;269	B2R9W9;Q9UEE9	.;CFDP1_HUMAN	Q	269	ENSP00000283882:E269Q	ENSP00000283882:E269Q	E	-	1	0	CFDP1	73896427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.941000	0.70195	2.755000	0.94549	0.650000	0.86243	GAG	CFDP1	-	pfam_BCNT		0.468	CFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFDP1	HGNC	protein_coding	OTTHUMT00000269031.2	C	NM_006324		75338926	-1	no_errors	ENST00000283882	ensembl	human	known	70_37	missense	SNP	1.000	G
CFDP1	10428	genome.wustl.edu	37	16	75445851	75445851	+	Splice_Site	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:75445851C>T	ENST00000283882.3	-	4	535		c.e4-1		RP11-77K12.1_ENST00000561887.1_5'Flank|SNORA76_ENST00000516313.1_RNA|CFDP1_ENST00000564286.1_Splice_Site	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1						cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						CCTCTCCTTTCTATAAAAAAA	0.313																																																	0													71.0	66.0	68.0					16																	75445851		2198	4299	6497	SO:0001630	splice_region_variant	10428			AB009285	CCDS10916.1	16q22.2-q22.3	2011-08-12			ENSG00000153774	ENSG00000153774			1873	protein-coding gene	gene with protein product	"""Bucentaur"", ""centromere protein 29"""	608108				9602175, 9006920, 11992732	Standard	NM_006324		Approved	BCNT, p97, CP27, SWC5, Yeti, CENP-29	uc002fdy.3	Q9UEE9	OTTHUMG00000137615	ENST00000283882.3:c.403-1G>A	16.37:g.75445851C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8	Splice_Site	SNP	-	e4-1	ENST00000283882.3	37	c.403-1	CCDS10916.1	16	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927679	0.52759	.	.	ENSG00000153774	ENST00000283882	.	.	.	5.8	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.803	0.46500	0.0:0.9136:0.0:0.0864	.	.	.	.	.	-1	.	.	.	-	.	.	CFDP1	74003352	.	.	0.079000	0.20413	0.504000	0.33889	.	.	1.463000	0.47967	0.585000	0.79938	.	CFDP1	-	-		0.313	CFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFDP1	HGNC	protein_coding	OTTHUMT00000269031.2	C	NM_006324	Intron	75445851	-1	no_errors	ENST00000283882	ensembl	human	known	70_37	splice_site	SNP	0.341	T
CFHR5	81494	genome.wustl.edu	37	1	196964876	196964876	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:196964876C>G	ENST00000256785.4	+	5	746	c.637C>G	c.(637-639)Caa>Gaa	p.Q213E	CFHR5_ENST00000367414.5_Missense_Mutation_p.Q237E			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	213	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCCACCTCCTCAACTCTCCAA	0.333																																																	0													103.0	104.0	104.0					1																	196964876		2203	4299	6502	SO:0001583	missense	81494			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.637C>G	1.37:g.196964876C>G	ENSP00000256785:p.Gln213Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2NKK2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Q237E	ENST00000256785.4	37	c.709	CCDS1387.1	1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.374838	0.01214	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.63913	-0.07;-0.07	3.39	-3.77	0.04346	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.27866	0.0686	N	0.05306	-0.075	0.09310	N	1	B	0.15473	0.013	B	0.19666	0.026	T	0.33650	-0.9860	9	0.02654	T	1	.	3.2266	0.06734	0.1607:0.2445:0.4751:0.1197	.	213	Q9BXR6	FHR5_HUMAN	E	237;213	ENSP00000356384:Q237E;ENSP00000256785:Q213E	ENSP00000256785:Q213E	Q	+	1	0	CFHR5	195231499	0.000000	0.05858	0.017000	0.16124	0.035000	0.12851	-0.433000	0.06948	-0.252000	0.09528	0.446000	0.29264	CAA	CFHR5	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.333	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	C	NM_030787		196964876	+1	no_errors	ENST00000367414	ensembl	human	known	70_37	missense	SNP	0.001	G
CHD1	1105	genome.wustl.edu	37	5	98229157	98229157	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:98229157C>G	ENST00000284049.3	-	13	2103	c.1954G>C	c.(1954-1956)Gag>Cag	p.E652Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	652	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GACCAGAGCTCTTTGAGGGAA	0.328																																																	0													78.0	88.0	85.0					5																	98229157		2203	4299	6502	SO:0001583	missense	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1954G>C	5.37:g.98229157C>G	ENSP00000284049:p.Glu652Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E652Q	ENST00000284049.3	37	c.1954	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708936	0.89018	.	.	ENSG00000153922	ENST00000284049	D	0.94828	-3.53	5.45	5.45	0.79879	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.33916	U	0.004434	D	0.98754	0.9581	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99478	1.0947	10	0.87932	D	0	.	19.2893	0.94092	0.0:1.0:0.0:0.0	.	652	O14646	CHD1_HUMAN	Q	652	ENSP00000284049:E652Q	ENSP00000284049:E652Q	E	-	1	0	CHD1	98257057	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.792000	0.85828	2.569000	0.86673	0.585000	0.79938	GAG	CHD1	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.328	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	C	NM_001270		98229157	-1	no_errors	ENST00000284049	ensembl	human	known	70_37	missense	SNP	1.000	G
CHD3	1107	genome.wustl.edu	37	17	7810527	7810527	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:7810527G>C	ENST00000330494.7	+	31	4900	c.4750G>C	c.(4750-4752)Gag>Cag	p.E1584Q	CHD3_ENST00000380358.4_Missense_Mutation_p.E1643Q|CHD3_ENST00000358181.4_Missense_Mutation_p.E1584Q|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1584	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGAAAAGCCAGAGAAGAACAG	0.567																																																	0													111.0	116.0	114.0					17																	7810527		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4750G>C	17.37:g.7810527G>C	ENSP00000332628:p.Glu1584Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1584Q	ENST00000330494.7	37	c.4750	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	G	8.285	0.816461	0.16607	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.90676	-2.71;-2.66;-2.65	4.47	4.47	0.54385	.	0.142140	0.32218	N	0.006411	D	0.88089	0.6343	N	0.08118	0	0.34864	D	0.742925	D;B;B;B	0.57899	0.981;0.039;0.023;0.079	D;B;B;B	0.65140	0.932;0.064;0.029;0.047	D	0.90374	0.4383	10	0.42905	T	0.14	-31.452	12.3765	0.55283	0.0:0.1695:0.8304:0.0	.	160;1584;1584;1643	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	Q	1643;1584;1584	ENSP00000369716:E1643Q;ENSP00000350907:E1584Q;ENSP00000332628:E1584Q	ENSP00000332628:E1584Q	E	+	1	0	CHD3	7751252	0.979000	0.34478	1.000000	0.80357	0.915000	0.54546	0.481000	0.22260	2.471000	0.83476	0.407000	0.27541	GAG	CHD3	-	NULL		0.567	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	G	NM_001005273		7810527	+1	no_errors	ENST00000330494	ensembl	human	known	70_37	missense	SNP	1.000	C
CHD4	1108	genome.wustl.edu	37	12	6709028	6709028	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:6709028C>T	ENST00000357008.2	-	10	1556	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N	CHD4_ENST00000309577.6_Missense_Mutation_p.D465N|CHD4_ENST00000544040.1_Missense_Mutation_p.D458N|CHD4_ENST00000544484.1_Missense_Mutation_p.D462N	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	465					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GGACAGGTATCACAGCAGAGC	0.557																																					Colon(32;586 792 4568 16848 45314)												0													183.0	171.0	175.0					12																	6709028		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1393G>A	12.37:g.6709028C>T	ENSP00000349508:p.Asp465Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D465N	ENST00000357008.2	37	c.1393	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530341	0.85706	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	4.3	4.3	0.51218	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.056121	0.64402	D	0.000001	T	0.60779	0.2295	H	0.96239	3.79	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.877	D;D;P	0.97110	0.997;1.0;0.548	T	0.75622	-0.3254	10	0.62326	D	0.03	-0.8451	17.3382	0.87288	0.0:1.0:0.0:0.0	.	465;465;458	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	N	462;458;465;465;439	ENSP00000440392:D462N;ENSP00000440542:D458N;ENSP00000312419:D465N;ENSP00000349508:D465N	ENSP00000312419:D465N	D	-	1	0	CHD4	6579289	1.000000	0.71417	0.825000	0.32803	0.778000	0.44026	7.572000	0.82409	2.381000	0.81170	0.563000	0.77884	GAT	CHD4	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.557	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273		6709028	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	missense	SNP	1.000	T
CHD8	57680	genome.wustl.edu	37	14	21882483	21882483	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:21882483G>C	ENST00000557364.1	-	9	2382	c.2119C>G	c.(2119-2121)Cag>Gag	p.Q707E	CHD8_ENST00000430710.3_Missense_Mutation_p.Q428E|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.Q707E			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	707	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGTCTCATCTGAGCCATTTTG	0.413																																																	0													156.0	134.0	140.0					14																	21882483		1827	4075	5902	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2119C>G	14.37:g.21882483G>C	ENSP00000451601:p.Gln707Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q707E	ENST00000557364.1	37	c.2119	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562049	0.86335	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.88975	-2.42;-2.45;-2.45	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.90642	0.7065	M	0.84433	2.695	0.80722	D	1	P	0.36633	0.562	B	0.40134	0.32	D	0.89180	0.3543	10	0.23302	T	0.38	-13.2825	17.172	0.86832	0.0:0.0:1.0:0.0	.	428	Q9HCK8-2	.	E	428;707;427;707	ENSP00000406288:Q428E;ENSP00000382863:Q707E;ENSP00000451601:Q707E	ENSP00000262707:Q427E	Q	-	1	0	CHD8	20952323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.587000	0.87381	0.655000	0.94253	CAG	CHD8	-	superfamily_Chromodomain-like		0.413	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	G	NM_020920		21882483	-1	no_errors	ENST00000399982	ensembl	human	known	70_37	missense	SNP	1.000	C
CHD9	80205	genome.wustl.edu	37	16	53301906	53301906	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:53301906G>A	ENST00000398510.3	+	21	4672	c.4585G>A	c.(4585-4587)Gag>Aag	p.E1529K	CHD9_ENST00000566029.1_Missense_Mutation_p.E1529K|CHD9_ENST00000564845.1_Missense_Mutation_p.E1529K|CHD9_ENST00000447540.1_Missense_Mutation_p.E1529K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1529					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACACGATGTAGAGATAATTTG	0.408																																																	0													122.0	113.0	115.0					16																	53301906		1852	4104	5956	SO:0001583	missense	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4585G>A	16.37:g.53301906G>A	ENSP00000381522:p.Glu1529Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1529K	ENST00000398510.3	37	c.4585		16	.	.	.	.	.	.	.	.	.	.	G	36	5.939376	0.97128	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.90004	-2.6;-2.6	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000011	D	0.95557	0.8556	M	0.89095	3.005	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.997;0.998	D;D;D;D	0.80764	0.957;0.994;0.98;0.991	D	0.95511	0.8586	10	0.59425	D	0.04	-21.7829	19.7167	0.96124	0.0:0.0:1.0:0.0	.	1055;1529;1529;1529	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	K	1529;1529;1055	ENSP00000396345:E1529K;ENSP00000381522:E1529K	ENSP00000219084:E1055K	E	+	1	0	CHD9	51859407	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.807000	0.99171	2.673000	0.90976	0.650000	0.86243	GAG	CHD9	-	NULL		0.408	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	G	NM_025134		53301906	+1	no_errors	ENST00000398510	ensembl	human	known	70_37	missense	SNP	1.000	A
CHEK1	1111	genome.wustl.edu	37	11	125499337	125499337	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:125499337C>T	ENST00000534070.1	+	5	661	c.406C>T	c.(406-408)Ctt>Ttt	p.L136F	CHEK1_ENST00000438015.1_Missense_Mutation_p.L136F|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000524737.1_Missense_Mutation_p.L136F|CHEK1_ENST00000427383.2_Missense_Mutation_p.L152F|CHEK1_ENST00000428830.2_Missense_Mutation_p.L136F|CHEK1_ENST00000544373.1_Missense_Mutation_p.L136F|CHEK1_ENST00000278916.3_Missense_Mutation_p.L136F	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	136	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		ACCAGAAAATCTTCTGTTGGA	0.279								Other conserved DNA damage response genes																																									0													95.0	98.0	97.0					11																	125499337		2201	4299	6500	SO:0001583	missense	1111			AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.406C>T	11.37:g.125499337C>T	ENSP00000435371:p.Leu136Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L136F	ENST00000534070.1	37	c.406	CCDS8459.1	11	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615407	0.66672	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000527013;ENST00000526937;ENST00000534070;ENST00000524737;ENST00000532669;ENST00000278916	T;T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.063424	0.64402	D	0.000010	T	0.50905	0.1643	M	0.65498	2.005	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.997;0.996;0.993	T	0.46775	-0.9167	9	.	.	.	-12.0523	11.2576	0.49063	0.0:0.9143:0.0:0.0857	.	136;152;136;136	F5H7S4;E7EPP6;B5BTY6;O14757	.;.;.;CHK1_HUMAN	F	136;152;136;136;136;136;136;136;57;136	ENSP00000388648:L136F;ENSP00000391090:L152F;ENSP00000412504:L136F;ENSP00000442317:L136F;ENSP00000431525:L136F;ENSP00000431815:L136F;ENSP00000435371:L136F;ENSP00000432890:L136F;ENSP00000434646:L57F;ENSP00000278916:L136F	.	L	+	1	0	CHEK1	125004547	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.778000	0.62368	2.556000	0.86216	0.586000	0.80456	CTT	CHEK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.279	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CHEK1	HGNC	protein_coding	OTTHUMT00000386714.1	C	NM_001274		125499337	+1	no_errors	ENST00000438015	ensembl	human	known	70_37	missense	SNP	1.000	T
CHGB	1114	genome.wustl.edu	37	20	5903673	5903673	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:5903673C>G	ENST00000378961.4	+	4	1087	c.883C>G	c.(883-885)Caa>Gaa	p.Q295E		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	295						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAGGTCCTCTCAAGGAGGGAG	0.582																																																	0													26.0	27.0	27.0					20																	5903673		2203	4300	6503	SO:0001583	missense	1114				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.883C>G	20.37:g.5903673C>G	ENSP00000368244:p.Gln295Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.Q295E	ENST00000378961.4	37	c.883	CCDS13092.1	20	.	.	.	.	.	.	.	.	.	.	C	5.375	0.254379	0.10185	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.01613	4.73;4.73	4.58	2.5	0.30297	.	0.879417	0.09680	N	0.769941	T	0.01800	0.0057	L	0.45137	1.4	0.22648	N	0.998894	B	0.13594	0.008	B	0.19946	0.027	T	0.49995	-0.8879	10	0.05620	T	0.96	-6.2126	6.7907	0.23697	0.0:0.4923:0.3922:0.1155	.	295	P05060	SCG1_HUMAN	E	295;275	ENSP00000368244:Q295E;ENSP00000416643:Q275E	ENSP00000368244:Q295E	Q	+	1	0	CHGB	5851673	0.966000	0.33281	0.909000	0.35828	0.518000	0.34316	2.098000	0.41757	1.114000	0.41781	0.563000	0.77884	CAA	CHGB	-	pfam_Granin		0.582	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGB	HGNC	protein_coding	OTTHUMT00000077897.2	C	NM_001819		5903673	+1	no_errors	ENST00000378961	ensembl	human	known	70_37	missense	SNP	0.997	G
CHIAP2	149620	genome.wustl.edu	37	1	111825686	111825686	+	RNA	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:111825686C>T	ENST00000369743.4	+	0	1231					NR_003928.1				chitinase, acidic pseudogene 2																		CTGCTGGCATCTCCAACATCC	0.517																																																	0																																												149620					1p13.2	2012-10-11			ENSG00000203878	ENSG00000203878			44463	pseudogene	pseudogene							Standard	NR_003928		Approved		uc009wgb.3		OTTHUMG00000012173		1.37:g.111825686C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000369743.4	37	NULL		1																																																																																			CHIAP2	-	-		0.517	CHIAP2-001	KNOWN	basic	processed_transcript	CHIAP2	HGNC	pseudogene	OTTHUMT00000033667.3	C			111825686	+1	no_errors	ENST00000369743	ensembl	human	known	70_37	rna	SNP	1.000	T
CHMP1A	5119	genome.wustl.edu	37	16	89718046	89718046	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:89718046C>G	ENST00000397901.3	-	3	292	c.36G>C	c.(34-36)gcG>gcC	p.A12A	CHMP1A_ENST00000253475.5_Missense_Mutation_p.E6Q|CHMP1A_ENST00000550102.1_Silent_p.A12A|CHMP1A_ENST00000547614.1_5'UTR|CHMP1A_ENST00000535997.2_5'UTR	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	12					cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192)	condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363)	metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		CCAGCTGCTTCGCCGTGAACT	0.637																																																	0													59.0	65.0	63.0					16																	89718046		2025	4173	6198	SO:0001819	synonymous_variant	5119			U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165		"""Charged multivesicular body proteins"""	8740	protein-coding gene	gene with protein product		164010	"""procollagen (type III) N-endopeptidase"", ""chromatin modifying protein 1A"""	PRSM1, PCOLN3		11559748, 11559747	Standard	NM_002768		Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000397901.3:c.36G>C	16.37:g.89718046C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU09|Q14468|Q15779|Q96G31	Missense_Mutation	SNP	NULL	p.E6Q	ENST00000397901.3	37	c.16	CCDS45552.1	16	.	.	.	.	.	.	.	.	.	.	C	9.139	1.013264	0.19277	.	.	ENSG00000131165	ENST00000253475	.	.	.	4.81	-6.73	0.01749	.	1.384760	0.05048	N	0.477650	T	0.31358	0.0794	.	.	.	0.18873	N	0.999985	B	0.26363	0.147	B	0.21917	0.037	T	0.39583	-0.9607	8	0.87932	D	0	0.021	11.0853	0.48082	0.0:0.503:0.0989:0.398	.	6	A6NG32	.	Q	6	.	ENSP00000253475:E6Q	E	-	1	0	CHMP1A	88245547	0.000000	0.05858	0.843000	0.33291	0.581000	0.36288	-3.709000	0.00387	-1.607000	0.01589	-0.812000	0.03155	GAA	CHMP1A	-	NULL		0.637	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP1A	HGNC	protein_coding	OTTHUMT00000404581.1	C	NM_002768		89718046	-1	no_errors	ENST00000253475	ensembl	human	known	70_37	missense	SNP	0.385	G
CHP1	11261	genome.wustl.edu	37	15	41535869	41535870	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:41535869_41535870CC>TT	ENST00000334660.5	+	2	312_313	c.72_73CC>TT	c.(70-75)tcCCac>tcTTac	p.H25Y	CHP1_ENST00000560397.1_Missense_Mutation_p.H25Y|CHP1_ENST00000558351.1_3'UTR	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	25					calcium ion-dependent exocytosis (GO:0017156)|cellular response to acidic pH (GO:0071468)|cytoplasmic microtubule organization (GO:0031122)|membrane docking (GO:0022406)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|microtubule bundle formation (GO:0001578)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of protein transport (GO:0051222)|positive regulation of sodium:proton antiporter activity (GO:0032417)|potassium ion transport (GO:0006813)|protein export from nucleus (GO:0006611)|protein oligomerization (GO:0051259)|protein stabilization (GO:0050821)|regulation of intracellular pH (GO:0051453)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|kinase binding (GO:0019900)|microtubule binding (GO:0008017)|potassium channel regulator activity (GO:0015459)|protein kinase inhibitor activity (GO:0004860)|transporter activity (GO:0005215)										CTTTAGTTTCCCACAGTCAAAT	0.485																																																	0																																										SO:0001583	missense	11261				CCDS10073.1	15q13.3	2013-01-11	2013-01-11		ENSG00000187446	ENSG00000187446		"""EF-hand domain containing"""	17433	protein-coding gene	gene with protein product	"""calcineurin homologous protein"""	606988				15987692, 20720019	Standard	NM_007236		Approved	Sid470p, CHP, SLC9A1BP, p22, p24	uc001znl.3	Q99653	OTTHUMG00000130233	Exception_encountered	15.37:g.41535869_41535870delinsTT	ENSP00000335632:p.His25Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6H9|Q6FHZ9	Silent|Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.S24|p.H25Y	ENST00000334660.5	37	c.72|c.73	CCDS10073.1	15																																																																																			CHP1	-	NULL		0.485	CHP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHP1	HGNC	protein_coding	OTTHUMT00000252554.2	C	NM_007236		41535869|41535870	+1	no_errors	ENST00000334660	ensembl	human	known	70_37	silent|missense	SNP	0.999|1.000	T
CHPF	79586	genome.wustl.edu	37	2	220405172	220405172	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:220405172C>T	ENST00000243776.6	-	4	1509	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N	CHPF_ENST00000535926.1_Missense_Mutation_p.D259N	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	421					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TCGGCCACATCAGCCCGGTCA	0.657																																																	0													29.0	32.0	31.0					2																	220405172		2202	4295	6497	SO:0001583	missense	79586			BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1261G>A	2.37:g.220405172C>T	ENSP00000243776:p.Asp421Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.D421N	ENST00000243776.6	37	c.1261	CCDS2443.1	2	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517894	0.64634	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.20738	2.05;2.05	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.52175	0.1718	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59553	-0.7433	10	0.59425	D	0.04	-21.7542	17.8999	0.88900	0.0:1.0:0.0:0.0	.	421	Q8IZ52	CHSS2_HUMAN	N	421;259	ENSP00000243776:D421N;ENSP00000445571:D259N	ENSP00000243776:D421N	D	-	1	0	CHPF	220113416	1.000000	0.71417	0.856000	0.33681	0.086000	0.17979	7.646000	0.83445	2.551000	0.86045	0.561000	0.74099	GAT	CHPF	-	pfam_Chond_GalNAc		0.657	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF	HGNC	protein_coding	OTTHUMT00000130268.1	C	NM_024536		220405172	-1	no_errors	ENST00000243776	ensembl	human	known	70_37	missense	SNP	1.000	T
CHRM5	1133	genome.wustl.edu	37	15	34356038	34356038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:34356038C>T	ENST00000383263.5	+	3	1790	c.1120C>T	c.(1120-1122)Cag>Tag	p.Q374*	CHRM5_ENST00000557872.1_Nonsense_Mutation_p.Q374*	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	374					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ACCCAAGAGTCAGAAATGTGT	0.468																																																	0													84.0	88.0	87.0					15																	34356038		2201	4298	6499	SO:0001587	stop_gained	1133				CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.1120C>T	15.37:g.34356038C>T	ENSP00000372750:p.Gln374*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96RG7	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M5_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.Q374*	ENST00000383263.5	37	c.1120	CCDS10031.1	15	.	.	.	.	.	.	.	.	.	.	C	40	8.516309	0.98845	.	.	ENSG00000184984	ENST00000383263	.	.	.	5.64	4.7	0.59300	.	0.438594	0.23463	N	0.047915	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-12.4569	13.7379	0.62829	0.3327:0.6673:0.0:0.0	.	.	.	.	X	374	.	ENSP00000372750:Q374X	Q	+	1	0	CHRM5	32143330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.587000	0.36622	1.557000	0.49525	0.650000	0.86243	CAG	CHRM5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.468	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM5	HGNC	protein_coding	OTTHUMT00000251521.2	C			34356038	+1	no_errors	ENST00000383263	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CHRM5	1133	genome.wustl.edu	37	15	34356124	34356124	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:34356124C>T	ENST00000383263.5	+	3	1876	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	CHRM5_ENST00000557872.1_Silent_p.I402I	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	402					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AGGTGAAAATCATGCCCTGCC	0.502																																																	0													87.0	89.0	89.0					15																	34356124		2201	4298	6499	SO:0001819	synonymous_variant	1133				CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.1206C>T	15.37:g.34356124C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96RG7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M5_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.I402	ENST00000383263.5	37	c.1206	CCDS10031.1	15																																																																																			CHRM5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M5_rcpt		0.502	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM5	HGNC	protein_coding	OTTHUMT00000251521.2	C			34356124	+1	no_errors	ENST00000383263	ensembl	human	known	70_37	silent	SNP	1.000	T
CHRNA1	1134	genome.wustl.edu	37	2	175618995	175618995	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:175618995C>G	ENST00000261007.5	-	6	633	c.567G>C	c.(565-567)atG>atC	p.M189I	CHRNA1_ENST00000409542.1_Missense_Mutation_p.M82I|CHRNA1_ENST00000409323.1_Missense_Mutation_p.M164I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.M164I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Missense_Mutation_p.M164I	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	189					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	TGCCCAGCTTCATGCTGCAGT	0.517																																																	0													143.0	128.0	133.0					2																	175618995		2203	4300	6503	SO:0001583	missense	1134			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.567G>C	2.37:g.175618995C>G	ENSP00000261007:p.Met189Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRV6|D3DPE8	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.M189I	ENST00000261007.5	37	c.567	CCDS33331.1	2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018612	0.75275	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219;ENST00000409323	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.71	5.71	0.89125	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85261	0.5656	L	0.60845	1.875	0.80722	D	1	D;P;D	0.89917	1.0;0.885;0.999	D;P;D	0.87578	0.998;0.507;0.998	D	0.85418	0.1141	10	0.87932	D	0	.	20.2216	0.98326	0.0:1.0:0.0:0.0	.	164;164;189	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	I	164;189;82;164;164	ENSP00000261008:M164I;ENSP00000261007:M189I;ENSP00000387026:M82I;ENSP00000386611:M164I;ENSP00000386684:M164I	ENSP00000261007:M189I	M	-	3	0	CHRNA1	175327241	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.860000	0.98153	0.655000	0.94253	ATG	CHRNA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd		0.517	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	CHRNA1	HGNC	protein_coding	OTTHUMT00000334116.1	C			175618995	-1	no_errors	ENST00000261007	ensembl	human	known	70_37	missense	SNP	1.000	G
CHRNA1	1134	genome.wustl.edu	37	2	175624354	175624354	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:175624354G>A	ENST00000261007.5	-	2	117	c.51C>T	c.(49-51)ctC>ctT	p.L17L	CHRNA1_ENST00000409542.1_Silent_p.L17L|CHRNA1_ENST00000409323.1_Silent_p.L17L|CHRNA1_ENST00000409219.1_Silent_p.L17L|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Silent_p.L17L	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	17					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	AGCCCAGGACGAGGCCAGCTG	0.557																																																	0													49.0	48.0	48.0					2																	175624354		2203	4300	6503	SO:0001819	synonymous_variant	1134			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.51C>T	2.37:g.175624354G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRV6|D3DPE8	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.L17	ENST00000261007.5	37	c.51	CCDS33331.1	2																																																																																			CHRNA1	-	NULL		0.557	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	CHRNA1	HGNC	protein_coding	OTTHUMT00000334116.1	G			175624354	-1	no_errors	ENST00000261007	ensembl	human	known	70_37	silent	SNP	0.175	A
CHST14	113189	genome.wustl.edu	37	15	40764143	40764143	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:40764143G>A	ENST00000306243.5	+	1	984	c.731G>A	c.(730-732)cGg>cAg	p.R244Q	CHST14_ENST00000559991.1_Missense_Mutation_p.R219Q	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	244					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		ATAGTGAGGCGGTACAGGGCT	0.602																																																	0													80.0	95.0	90.0					15																	40764143		2203	4300	6503	SO:0001583	missense	113189			AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"""Sulfotransferases, membrane-bound"""	24464	protein-coding gene	gene with protein product		608429	"""dermatan 4 sulfotransferase 1"""	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.731G>A	15.37:g.40764143G>A	ENSP00000307297:p.Arg244Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PJ31|Q6UXA0|Q96P94	Missense_Mutation	SNP	pfam_Sulfotransferase	p.R244Q	ENST00000306243.5	37	c.731	CCDS10059.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.434828	0.96150	.	.	ENSG00000169105	ENST00000306243	T	0.74737	-0.87	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	L	0.58810	1.83	0.58432	D	0.999999	D	0.63046	0.992	P	0.52109	0.69	T	0.79398	-0.1820	10	0.45353	T	0.12	-0.7211	17.0743	0.86582	0.0:0.0:1.0:0.0	.	244	Q8NCH0	CHSTE_HUMAN	Q	244	ENSP00000307297:R244Q	ENSP00000307297:R244Q	R	+	2	0	CHST14	38551435	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	6.602000	0.74141	2.610000	0.88304	0.655000	0.94253	CGG	CHST14	-	pfam_Sulfotransferase		0.602	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST14	HGNC	protein_coding	OTTHUMT00000252251.1	G	NM_130468		40764143	+1	no_errors	ENST00000306243	ensembl	human	known	70_37	missense	SNP	1.000	A
CHST15	51363	genome.wustl.edu	37	10	125804145	125804145	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:125804145G>A	ENST00000346248.5	-	3	1479	c.837C>T	c.(835-837)gtC>gtT	p.V279V	CHST15_ENST00000421115.1_Silent_p.V279V|CHST15_ENST00000435907.1_Silent_p.V279V|CHST15_ENST00000462406.1_5'Flank	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	279					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CGGAGAACTTGACCTCAGGGT	0.617																																																	0													33.0	36.0	35.0					10																	125804145		2203	4300	6503	SO:0001819	synonymous_variant	51363			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.837C>T	10.37:g.125804145G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O60338|O60474|Q86VM4	Silent	SNP	pfam_Sulfotransferase_dom	p.V279	ENST00000346248.5	37	c.837	CCDS7638.1	10																																																																																			CHST15	-	pfam_Sulfotransferase_dom		0.617	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST15	HGNC	protein_coding	OTTHUMT00000050856.1	G	NM_015892		125804145	-1	no_errors	ENST00000346248	ensembl	human	known	70_37	silent	SNP	0.962	A
CIB2	10518	genome.wustl.edu	37	15	78398016	78398016	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:78398016C>G	ENST00000258930.3	-	5	871				CIB2_ENST00000557846.1_Intron|CIB2_ENST00000560618.1_Missense_Mutation_p.E160Q|CIB2_ENST00000539011.1_Intron	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2						calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						ATAGGGGCCTCAGCCCCAACA	0.627																																																	0																																										SO:0001627	intron_variant	10518			BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.542+64G>C	15.37:g.78398016C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDF0|H0YM71|Q05BT6	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E160Q	ENST00000258930.3	37	c.478	CCDS10296.1	15																																																																																			CIB2	-	NULL		0.627	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB2	HGNC	protein_coding	OTTHUMT00000289798.1	C	NM_006383		78398016	-1	no_errors	ENST00000560618	ensembl	human	putative	70_37	missense	SNP	0.000	G
CIC	23152	genome.wustl.edu	37	19	42795012	42795012	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:42795012G>A	ENST00000575354.2	+	10	2132	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	CIC_ENST00000160740.3_Missense_Mutation_p.E698K|CIC_ENST00000572681.2_Missense_Mutation_p.E1607K	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	698	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGGCCGGGCTGAGGCGTCTCC	0.642			"""Mis, F, S"""		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													17.0	16.0	16.0					19																	42795012		2195	4289	6484	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2092G>A	19.37:g.42795012G>A	ENSP00000458663:p.Glu698Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E698K	ENST00000575354.2	37	c.2092	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202251	0.38905	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	T	0.18964	0.0455	N	0.08118	0	0.21822	N	0.999521	P	0.51057	0.941	B	0.40477	0.33	T	0.11665	-1.0578	8	0.87932	D	0	-14.6421	14.2525	0.66028	0.0:0.0:1.0:0.0	.	698	Q96RK0	CIC_HUMAN	K	698	.	ENSP00000160740:E698K	E	+	1	0	CIC	47486852	0.999000	0.42202	0.273000	0.24645	0.947000	0.59692	3.043000	0.49823	2.432000	0.82394	0.491000	0.48974	GAG	CIC	-	NULL		0.642	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	G			42795012	+1	no_errors	ENST00000160740	ensembl	human	known	70_37	missense	SNP	0.471	A
CILP	8483	genome.wustl.edu	37	15	65490682	65490682	+	Missense_Mutation	SNP	C	C	G	rs147805917	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:65490682C>G	ENST00000261883.4	-	9	2108	c.1942G>C	c.(1942-1944)Gaa>Caa	p.E648Q		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	648					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GTGTCTCCTTCGTCATTGATG	0.517																																																	0													162.0	153.0	156.0					15																	65490682		2202	4299	6501	SO:0001583	missense	8483			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1942G>C	15.37:g.65490682C>G	ENSP00000261883:p.Glu648Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.E648Q	ENST00000261883.4	37	c.1942	CCDS10203.1	15	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951597	0.34471	.	.	ENSG00000138615	ENST00000261883	T	0.46063	0.88	5.5	5.5	0.81552	.	0.140813	0.64402	D	0.000006	T	0.41719	0.1171	L	0.47016	1.485	0.58432	D	0.999991	B	0.27997	0.197	B	0.28553	0.091	T	0.30327	-0.9982	10	0.54805	T	0.06	-23.3175	18.4132	0.90559	0.0:1.0:0.0:0.0	.	648	O75339	CILP1_HUMAN	Q	648	ENSP00000261883:E648Q	ENSP00000261883:E648Q	E	-	1	0	CILP	63277735	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	6.039000	0.70972	2.584000	0.87258	0.563000	0.77884	GAA	CILP	-	NULL		0.517	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	HGNC	protein_coding	OTTHUMT00000256829.1	C	NM_003613		65490682	-1	no_errors	ENST00000261883	ensembl	human	known	70_37	missense	SNP	1.000	G
PCGF2	7703	genome.wustl.edu	37	17	36890307	36890307	+	3'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:36890307C>G	ENST00000580830.1	-	0	2905				CISD3_ENST00000578573.1_3'UTR|RNA5SP440_ENST00000363245.1_RNA|PCGF2_ENST00000360797.2_3'UTR|CISD3_ENST00000439660.2_3'UTR			P35227	PCGF2_HUMAN	polycomb group ring finger 2						anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					GATGGAATCTCGAGTCTCGAC	0.572											OREG0024366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001624	3_prime_UTR_variant	284106			D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.*1169G>C	17.37:g.36890307C>G		Somatic	866	WXS	Illumina HiSeq	Phase_IV	A6NGD8	RNA	SNP	-	NULL	ENST00000580830.1	37	NULL	CCDS32638.1	17																																																																																			CISD3	-	-		0.572	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CISD3	HGNC	protein_coding	OTTHUMT00000442246.2	C	NM_007144		36890307	+1	no_errors	ENST00000578573	ensembl	human	known	70_37	rna	SNP	0.000	G
CIZ1	25792	genome.wustl.edu	37	9	130931345	130931345	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:130931345C>T	ENST00000393608.1	-	14	2483	c.2281G>A	c.(2281-2283)Gaa>Aaa	p.E761K	CIZ1_ENST00000538431.1_Missense_Mutation_p.E787K|CIZ1_ENST00000372938.5_Missense_Mutation_p.E761K|CIZ1_ENST00000372948.3_Missense_Mutation_p.E705K|CIZ1_ENST00000372954.1_Missense_Mutation_p.E681K|CIZ1_ENST00000541172.1_Missense_Mutation_p.E660K|CIZ1_ENST00000325721.8_Missense_Mutation_p.E732K|CIZ1_ENST00000277465.4_Missense_Mutation_p.E733K|CIZ1_ENST00000357558.5_Missense_Mutation_p.E733K|CIZ1_ENST00000476727.2_5'UTR	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	761	Glu-rich.				maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TTGCAGAGTtcctcctcaacc	0.582																																																	0													203.0	188.0	193.0					9																	130931345		2203	4300	6503	SO:0001583	missense	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.2281G>A	9.37:g.130931345C>T	ENSP00000377232:p.Glu761Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.E787K	ENST00000393608.1	37	c.2359	CCDS6894.1	9	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507220	0.85282	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.37235	1.21;1.38;1.45;1.53;1.37;1.8;1.53;1.21;1.38;1.96	5.81	4.91	0.64330	.	0.586313	0.15402	N	0.264243	T	0.49029	0.1533	L	0.36672	1.1	0.31052	N	0.715079	D;D;D;D;D;D;D	0.89917	0.998;0.999;1.0;0.999;0.999;0.993;0.999	D;D;D;D;D;P;D	0.81914	0.987;0.97;0.98;0.995;0.937;0.86;0.937	T	0.46925	-0.9156	10	0.51188	T	0.08	-12.4293	12.7288	0.57187	0.0:0.9226:0.0:0.0774	.	787;700;705;681;761;732;733	B7Z3U7;B4E0A3;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;CIZ1_HUMAN;.;.	K	681;761;787;733;732;700;660;733;705;761;683	ENSP00000362045:E681K;ENSP00000377232:E761K;ENSP00000439244:E787K;ENSP00000350169:E733K;ENSP00000320374:E732K;ENSP00000445057:E660K;ENSP00000277465:E733K;ENSP00000362039:E705K;ENSP00000362029:E761K;ENSP00000398011:E683K	ENSP00000277465:E733K	E	-	1	0	CIZ1	129971166	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.563000	0.60823	2.757000	0.94681	0.462000	0.41574	GAA	CIZ1	-	NULL		0.582	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	C	NM_012127		130931345	-1	no_errors	ENST00000538431	ensembl	human	known	70_37	missense	SNP	0.985	T
CIZ1	25792	genome.wustl.edu	37	9	130931351	130931351	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:130931351C>T	ENST00000393608.1	-	14	2477	c.2275G>A	c.(2275-2277)Gag>Aag	p.E759K	CIZ1_ENST00000538431.1_Missense_Mutation_p.E785K|CIZ1_ENST00000372938.5_Missense_Mutation_p.E759K|CIZ1_ENST00000372948.3_Missense_Mutation_p.E703K|CIZ1_ENST00000372954.1_Missense_Mutation_p.E679K|CIZ1_ENST00000541172.1_Missense_Mutation_p.E658K|CIZ1_ENST00000325721.8_Missense_Mutation_p.E730K|CIZ1_ENST00000277465.4_Missense_Mutation_p.E731K|CIZ1_ENST00000357558.5_Missense_Mutation_p.E731K|CIZ1_ENST00000476727.2_5'UTR	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	759	Glu-rich.				maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						AGTtcctcctcaacctcgatc	0.582																																																	0													217.0	200.0	206.0					9																	130931351		2203	4300	6503	SO:0001583	missense	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.2275G>A	9.37:g.130931351C>T	ENSP00000377232:p.Glu759Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.E785K	ENST00000393608.1	37	c.2353	CCDS6894.1	9	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523530	0.64747	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.36878	1.23;1.4;1.47;1.55;1.39;1.81;1.55;1.23;1.4;1.96	5.81	3.59	0.41128	.	0.877777	0.09647	N	0.774160	T	0.42877	0.1222	L	0.40543	1.245	0.23685	N	0.997115	P;P;P;P;P;P;P	0.49253	0.847;0.908;0.921;0.905;0.85;0.715;0.85	B;P;P;P;B;P;B	0.54401	0.4;0.5;0.751;0.676;0.429;0.469;0.429	T	0.20940	-1.0260	10	0.29301	T	0.29	-15.8344	10.9939	0.47565	0.1325:0.7897:0.0:0.0778	.	785;698;703;679;759;730;731	B7Z3U7;B4E0A3;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;CIZ1_HUMAN;.;.	K	679;759;785;731;730;698;658;731;703;759;681	ENSP00000362045:E679K;ENSP00000377232:E759K;ENSP00000439244:E785K;ENSP00000350169:E731K;ENSP00000320374:E730K;ENSP00000445057:E658K;ENSP00000277465:E731K;ENSP00000362039:E703K;ENSP00000362029:E759K;ENSP00000398011:E681K	ENSP00000277465:E731K	E	-	1	0	CIZ1	129971172	0.996000	0.38824	0.968000	0.41197	0.927000	0.56198	4.356000	0.59430	1.417000	0.47077	0.462000	0.41574	GAG	CIZ1	-	NULL		0.582	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	C	NM_012127		130931351	-1	no_errors	ENST00000538431	ensembl	human	known	70_37	missense	SNP	0.413	T
CKAP5	9793	genome.wustl.edu	37	11	46771957	46771957	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:46771957C>G	ENST00000529230.1	-	42	5617	c.5571G>C	c.(5569-5571)aaG>aaC	p.K1857N	CKAP5_ENST00000415402.1_Missense_Mutation_p.K1864N|CKAP5_ENST00000354558.3_Missense_Mutation_p.K1797N|CKAP5_ENST00000312055.5_Missense_Mutation_p.K1797N|MIR5582_ENST00000579697.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1857					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						AGTATTTCTTCTTATATTCAT	0.428																																					Ovarian(4;85 273 2202 4844 13323)												0													105.0	103.0	104.0					11																	46771957		2201	4299	6500	SO:0001583	missense	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5571G>C	11.37:g.46771957C>G	ENSP00000432768:p.Lys1857Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.K1864N	ENST00000529230.1	37	c.5592	CCDS31477.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.361786|4.361786	0.82353|0.82353	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000525896|ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	.|T;T;T;T	.|0.66815	.|-0.23;-0.23;0.61;0.61	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79793|0.79793	0.4507|0.4507	M|M	0.78049|0.78049	2.395|2.395	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D	.|0.89917	.|1.0;0.999;0.998	.|D;D;D	.|0.85130	.|0.997;0.994;0.987	T|T	0.78828|0.78828	-0.2050|-0.2050	5|10	.|0.38643	.|T	.|0.18	-10.3637|-10.3637	10.7092|10.7092	0.45973|0.45973	0.0:0.8844:0.0:0.1156|0.0:0.8844:0.0:0.1156	.|.	.|1864;1797;1857	.|Q14008-3;Q14008-2;Q14008	.|.;.;CKAP5_HUMAN	Q|N	96|1857;1864;1797;1797	.|ENSP00000432768:K1857N;ENSP00000395302:K1864N;ENSP00000310227:K1797N;ENSP00000346566:K1797N	.|ENSP00000310227:K1797N	E|K	-|-	1|3	0|2	CKAP5|CKAP5	46728533|46728533	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.493000|1.493000	0.35605|0.35605	2.649000|2.649000	0.89929|0.89929	0.549000|0.549000	0.68633|0.68633	GAA|AAG	CKAP5	-	superfamily_ARM-type_fold		0.428	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	C	NM_014756		46771957	-1	no_errors	ENST00000415402	ensembl	human	known	70_37	missense	SNP	1.000	G
CLCC1	23155	genome.wustl.edu	37	1	109477521	109477521	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:109477521C>T	ENST00000369971.2	-	11	1556	c.1427G>A	c.(1426-1428)gGa>gAa	p.G476E	CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000369969.2_Missense_Mutation_p.G355E|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369970.3_Missense_Mutation_p.G426E|CLCC1_ENST00000348264.2_Missense_Mutation_p.G291E|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000415331.1_Missense_Mutation_p.G426E|CLCC1_ENST00000369968.2_Missense_Mutation_p.G291E|CLCC1_ENST00000302500.4_Missense_Mutation_p.G355E|CLCC1_ENST00000356970.2_Missense_Mutation_p.G476E	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	476						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CCCCAGGATTCCACCTGTCTC	0.428																																																	0													81.0	75.0	77.0					1																	109477521		2203	4300	6503	SO:0001583	missense	23155			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1427G>A	1.37:g.109477521C>T	ENSP00000358988:p.Gly476Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	pfam_Chloride_chnl_CLIC-like	p.G476E	ENST00000369971.2	37	c.1427	CCDS41362.1	1	.	.	.	.	.	.	.	.	.	.	C	5.293	0.239370	0.10023	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.84	-4.47	0.03525	.	1.621720	0.03006	N	0.148806	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B;B;B;B	0.25105	0.118;0.095;0.004;0.005	B;B;B;B	0.24155	0.046;0.051;0.006;0.007	T	0.06373	-1.0830	10	0.05620	T	0.96	-0.6002	5.5917	0.17305	0.2501:0.1566:0.0:0.5933	.	291;355;426;476	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	E	476;476;426;355;291;426;291;355	ENSP00000349456:G476E;ENSP00000358988:G476E;ENSP00000411591:G426E;ENSP00000358986:G355E;ENSP00000358985:G291E;ENSP00000358987:G426E;ENSP00000337243:G291E;ENSP00000306552:G355E	ENSP00000306552:G355E	G	-	2	0	CLCC1	109279044	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.378000	0.07446	-0.561000	0.06094	-0.345000	0.07892	GGA	CLCC1	-	pfam_Chloride_chnl_CLIC-like		0.428	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCC1	HGNC	protein_coding	OTTHUMT00000032405.1	C	NM_015127		109477521	-1	no_errors	ENST00000356970	ensembl	human	known	70_37	missense	SNP	0.000	T
CLCN2	1181	genome.wustl.edu	37	3	184071526	184071526	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:184071526G>C	ENST00000265593.4	-	16	1950	c.1779C>G	c.(1777-1779)ctC>ctG	p.L593L	CLCN2_ENST00000434054.2_Silent_p.L549L|CLCN2_ENST00000457512.1_Silent_p.L593L|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000344937.7_Silent_p.L576L|CLCN2_ENST00000475279.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	593	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGGTGCAGCTGAGGGCCACAT	0.652																																																	0													47.0	44.0	45.0					3																	184071526		2201	4300	6501	SO:0001819	synonymous_variant	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1779C>G	3.37:g.184071526G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2	p.L593	ENST00000265593.4	37	c.1779	CCDS3263.1	3																																																																																			CLCN2	-	NULL		0.652	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCN2	HGNC	protein_coding	OTTHUMT00000345571.1	G			184071526	-1	no_errors	ENST00000265593	ensembl	human	known	70_37	silent	SNP	0.976	C
CLCN7	1186	genome.wustl.edu	37	16	1502884	1502884	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:1502884G>A	ENST00000382745.4	-	15	1830	c.1225C>T	c.(1225-1227)Cgg>Tgg	p.R409W	CLCN7_ENST00000262318.8_Missense_Mutation_p.R385W|LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000448525.1_Missense_Mutation_p.R385W	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	409					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				AGGCAGGGCCGGTGGATGTAC	0.662																																																	0													15.0	14.0	14.0					16																	1502884		2162	4278	6440	SO:0001583	missense	1186			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1225C>T	16.37:g.1502884G>A	ENSP00000372193:p.Arg409Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-7	p.R409W	ENST00000382745.4	37	c.1225	CCDS32361.1	16	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835133	0.32421	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.94330	-3.4;-3.4	5.15	5.15	0.70609	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.95105	0.8414	L	0.58583	1.82	0.80722	D	1	B;D	0.89917	0.019;1.0	B;D	0.70716	0.023;0.97	D	0.93966	0.7245	10	0.35671	T	0.21	-33.6187	13.1101	0.59268	0.0:0.0:0.8391:0.1609	.	385;409	E9PDB9;P51798	.;CLCN7_HUMAN	W	385;362;409;351	ENSP00000410907:R385W;ENSP00000372193:R409W	ENSP00000262318:R362W	R	-	1	2	CLCN7	1442885	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	2.821000	0.48065	2.404000	0.81709	0.561000	0.74099	CGG	CLCN7	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core		0.662	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN7	HGNC	protein_coding	OTTHUMT00000103598.2	G	NM_001287		1502884	-1	no_errors	ENST00000382745	ensembl	human	known	70_37	missense	SNP	1.000	A
CLCNKA	1187	genome.wustl.edu	37	1	16359706	16359706	+	Missense_Mutation	SNP	C	C	G	rs541770891	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16359706C>G	ENST00000331433.4	+	19	1990	c.1971C>G	c.(1969-1971)ttC>ttG	p.F657L	CLCNKA_ENST00000420078.1_Missense_Mutation_p.F656L|CLCNKA_ENST00000375692.1_Missense_Mutation_p.F656L|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.F614L			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	657	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	AGTCCCTCTTCGTGACATCGC	0.612											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													180.0	156.0	164.0					1																	16359706		2203	4300	6503	SO:0001583	missense	1187				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1971C>G	1.37:g.16359706C>G	ENSP00000332771:p.Phe657Leu	Somatic	709	WXS	Illumina HiSeq	Phase_IV	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.F657L	ENST00000331433.4	37	c.1971	CCDS167.1	1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.724211	0.30593	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	3.02	-5.25	0.02781	Cystathionine beta-synthase, core (2);	0.299613	0.36854	N	0.002371	D	0.86091	0.5850	L	0.53671	1.685	0.22127	N	0.999349	B;B;B	0.30763	0.294;0.19;0.19	B;B;B	0.35770	0.21;0.083;0.107	T	0.76645	-0.2883	10	0.51188	T	0.08	.	5.0838	0.14671	0.0:0.301:0.1614:0.5376	.	614;656;657	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	L	656;656;614;657	ENSP00000364844:F656L;ENSP00000410353:F656L;ENSP00000414445:F614L;ENSP00000332771:F657L	ENSP00000332771:F657L	F	+	3	2	CLCNKA	16232293	0.011000	0.17503	0.073000	0.20177	0.890000	0.51754	-1.586000	0.02110	-0.862000	0.04089	0.313000	0.20887	TTC	CLCNKA	-	pfam_Cysta_beta_synth_core		0.612	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	C			16359706	+1	no_errors	ENST00000331433	ensembl	human	known	70_37	missense	SNP	0.015	G
CLDN6	9074	genome.wustl.edu	37	16	3065630	3065630	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:3065630C>G	ENST00000396925.1	-	3	821	c.393G>C	c.(391-393)ctG>ctC	p.L131L	TNFRSF12A_ENST00000573001.1_5'Flank|CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Silent_p.L131L			P56747	CLD6_HUMAN	claudin 6	131					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGATTAGCGTCAGGACCCCTG	0.612																																																	0													31.0	32.0	31.0					16																	3065630		2198	4299	6497	SO:0001819	synonymous_variant	9074			AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.393G>C	16.37:g.3065630C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQP9|D3DUA5	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6	p.L131	ENST00000396925.1	37	c.393	CCDS10488.1	16																																																																																			CLDN6	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6		0.612	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN6	HGNC	protein_coding	OTTHUMT00000250988.1	C	NM_021195		3065630	-1	no_errors	ENST00000328796	ensembl	human	known	70_37	silent	SNP	0.952	G
CLEC16A	23274	genome.wustl.edu	37	16	11097066	11097066	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:11097066G>A	ENST00000409790.1	+	11	1437	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	CLEC16A_ENST00000409552.3_Missense_Mutation_p.E401K	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGAAGATGAGGAGAAAGGGCC	0.537																																																	0													75.0	81.0	79.0					16																	11097066		1970	4132	6102	SO:0001583	missense	23274			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1207G>A	16.37:g.11097066G>A	ENSP00000387122:p.Glu403Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.E403K	ENST00000409790.1	37	c.1207	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592199	0.46214	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.44482	0.92	5.62	5.62	0.85841	.	0.232288	0.45867	D	0.000337	T	0.29652	0.0740	N	0.22421	0.69	0.80722	D	1	B;B	0.15473	0.013;0.01	B;B	0.13407	0.006;0.009	T	0.13710	-1.0499	10	0.06494	T	0.89	-23.9552	18.6399	0.91392	0.0:0.0:1.0:0.0	.	403;401	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	K	403;403;401	ENSP00000387122:E403K	ENSP00000386495:E401K	E	+	1	0	CLEC16A	11004567	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.418000	0.66429	2.662000	0.90505	0.655000	0.94253	GAG	CLEC16A	-	NULL		0.537	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	G	NM_015226		11097066	+1	no_errors	ENST00000409790	ensembl	human	known	70_37	missense	SNP	1.000	A
CLEC17A	388512	genome.wustl.edu	37	19	14703135	14703135	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:14703135C>G	ENST00000417570.1	+	4	280	c.242C>G	c.(241-243)tCa>tGa	p.S81*	CLEC17A_ENST00000547437.1_Nonsense_Mutation_p.S81*|CLEC17A_ENST00000397439.2_Intron	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	81						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										TATGAGAACTCAACACCTCCC	0.557																																																	0																																										SO:0001587	stop_gained	388512			AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.242C>G	19.37:g.14703135C>G	ENSP00000393719:p.Ser81*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MX68|B2RTX0|B7ZMM4	Nonsense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.S81*	ENST00000417570.1	37	c.242	CCDS56087.1	19	.	.	.	.	.	.	.	.	.	.	c	11.84	1.759417	0.31137	.	.	ENSG00000187912	ENST00000547437;ENST00000417570	.	.	.	1.2	-1.58	0.08479	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	1.3912	0.02251	0.3321:0.2799:0.0:0.388	.	.	.	.	X	81	.	ENSP00000341620:S81X	S	+	2	0	CLEC17A	14564135	0.005000	0.15991	0.002000	0.10522	0.107000	0.19398	-0.486000	0.06513	-0.576000	0.05974	0.297000	0.19635	TCA	CLEC17A	-	NULL		0.557	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC17A	HGNC	protein_coding	OTTHUMT00000403400.1	C	NM_207390		14703135	+1	no_errors	ENST00000417570	ensembl	human	known	70_37	nonsense	SNP	0.004	G
CLEC4A	50856	genome.wustl.edu	37	12	8289436	8289436	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:8289436C>G	ENST00000229332.5	+	5	750	c.503C>G	c.(502-504)tCa>tGa	p.S168*	CLEC4A_ENST00000360500.3_Nonsense_Mutation_p.S129*|CLEC4A_ENST00000352620.3_Nonsense_Mutation_p.S135*|CLEC4A_ENST00000345999.3_Nonsense_Mutation_p.S96*	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	168	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		GTGGGGCTCTCAGATCCAGAA	0.433																																																	0													101.0	105.0	104.0					12																	8289436		2203	4300	6503	SO:0001587	stop_gained	50856			AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.503C>G	12.37:g.8289436C>G	ENSP00000229332:p.Ser168*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Nonsense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.S168*	ENST00000229332.5	37	c.503	CCDS8590.1	12	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768827	0.31320	.	.	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	.	.	.	3.98	3.98	0.46160	.	0.000000	0.31821	N	0.007009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	11.8523	0.52417	0.0:1.0:0.0:0.0	.	.	.	.	X	168;96;135;129	.	ENSP00000229332:S168X	S	+	2	0	CLEC4A	8180703	0.168000	0.22989	0.916000	0.36221	0.105000	0.19272	0.667000	0.25112	2.488000	0.83962	0.650000	0.86243	TCA	CLEC4A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.433	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4A	HGNC	protein_coding	OTTHUMT00000400257.1	C	NM_194450		8289436	+1	no_errors	ENST00000229332	ensembl	human	known	70_37	nonsense	SNP	0.960	G
CLIP1	6249	genome.wustl.edu	37	12	122862424	122862424	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:122862424C>T	ENST00000540338.1	-	2	210	c.169G>A	c.(169-171)Gac>Aac	p.D57N	CLIP1_ENST00000537178.1_Missense_Mutation_p.D57N|CLIP1_ENST00000302528.7_Missense_Mutation_p.D57N|CLIP1_ENST00000358808.2_Missense_Mutation_p.D57N|CLIP1_ENST00000361654.4_Missense_Mutation_p.D57N			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	57					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ACTCGAAAGTCATCCACAAAT	0.443																																																	0													160.0	169.0	166.0					12																	122862424		2203	4300	6503	SO:0001583	missense	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.169G>A	12.37:g.122862424C>T	ENSP00000439093:p.Asp57Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.D57N	ENST00000540338.1	37	c.169	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261702	0.59431	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004;ENST00000535290;ENST00000539080	T;T;T;T;T;T;D;T	0.84873	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-1.91;0.77	5.68	5.68	0.88126	Cytoskeleton-associated protein, Gly-rich domain (2);	0.103125	0.64402	D	0.000001	D	0.88429	0.6434	M	0.61703	1.905	0.45883	D	0.99873	B;B;B;B	0.24963	0.026;0.115;0.115;0.016	B;B;B;B	0.40864	0.057;0.342;0.342;0.034	D	0.84690	0.0722	10	0.39692	T	0.17	-26.5583	19.791	0.96456	0.0:1.0:0.0:0.0	.	57;57;57;57	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	N	57	ENSP00000303585:D57N;ENSP00000351665:D57N;ENSP00000445531:D57N;ENSP00000439093:D57N;ENSP00000437786:D57N;ENSP00000441409:D57N;ENSP00000439472:D57N;ENSP00000445387:D57N	ENSP00000303585:D57N	D	-	1	0	CLIP1	121428377	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.719000	0.54926	2.677000	0.91161	0.491000	0.48974	GAC	CLIP1	-	superfamily_CAP-Gly_domain		0.443	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	C	NM_002956		122862424	-1	no_errors	ENST00000540338	ensembl	human	known	70_37	missense	SNP	1.000	T
CLNK	116449	genome.wustl.edu	37	4	10515215	10515215	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:10515215C>T	ENST00000226951.6	-	16	1018	c.779G>A	c.(778-780)aGa>aAa	p.R260K	CLNK_ENST00000515667.1_5'UTR	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	260					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						CATGCCTCCTCTATGATCTGG	0.502																																					GBM(87;402 1286 6949 13902 35851)												0													54.0	51.0	52.0					4																	10515215		1972	4175	6147	SO:0001583	missense	116449			AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.779G>A	4.37:g.10515215C>T	ENSP00000226951:p.Arg260Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05C27|Q9P2U9	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.R260K	ENST00000226951.6	37	c.779	CCDS47024.1	4	.	.	.	.	.	.	.	.	.	.	C	0.584	-0.835671	0.02713	.	.	ENSG00000109684	ENST00000226951;ENST00000429087	T	0.20332	2.08	4.31	-2.17	0.07059	.	1.312740	0.05109	N	0.488497	T	0.07007	0.0178	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30765	-0.9967	10	0.02654	T	1	-2.351	5.0548	0.14527	0.0:0.3198:0.3814:0.2988	.	260	Q7Z7G1	CLNK_HUMAN	K	260;224	ENSP00000226951:R260K	ENSP00000226951:R260K	R	-	2	0	CLNK	10124313	0.000000	0.05858	0.003000	0.11579	0.071000	0.16799	-0.108000	0.10857	-0.377000	0.07930	-0.302000	0.09304	AGA	CLNK	-	NULL		0.502	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLNK	HGNC	protein_coding	OTTHUMT00000359047.1	C	NM_052964		10515215	-1	no_errors	ENST00000226951	ensembl	human	known	70_37	missense	SNP	0.006	T
CLPP	8192	genome.wustl.edu	37	19	6368611	6368611	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:6368611G>C	ENST00000245816.4	+	6	847	c.724G>C	c.(724-726)Gac>Cac	p.D242H	CLPP_ENST00000596605.1_3'UTR|CLPP_ENST00000596149.1_Missense_Mutation_p.D155H	NM_006012.2	NP_006003.1	Q16740	CLPP_HUMAN	caseinolytic mitochondrial matrix peptidase proteolytic subunit	242					protein homooligomerization (GO:0051260)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|ovary(2)	6						TGGCATCTTAGACAAGGTTCT	0.612																																																	0													54.0	40.0	45.0					19																	6368611		2203	4300	6503	SO:0001583	missense	8192			Z50853	CCDS12162.1	19p13.3	2013-09-12	2013-09-12		ENSG00000125656	ENSG00000125656		"""ATPases / AAA-type"""	2084	protein-coding gene	gene with protein product	"""ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human"""	601119	"""ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog"", ""ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli)"", ""ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)"""			8543061, 23360988	Standard	NM_006012		Approved		uc002mem.1	Q16740	OTTHUMG00000180779	ENST00000245816.4:c.724G>C	19.37:g.6368611G>C	ENSP00000245816:p.Asp242His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4W5	Missense_Mutation	SNP	pfam_ClpP/TepA,prints_ClpP	p.D242H	ENST00000245816.4	37	c.724	CCDS12162.1	19	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846288	0.91277	.	.	ENSG00000125656	ENST00000245816	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.91294	0.7255	H	0.99169	4.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94871	0.8030	9	0.87932	D	0	-53.1202	17.8939	0.88880	0.0:0.0:1.0:0.0	.	242	Q16740	CLPP_HUMAN	H	242	.	ENSP00000245816:D242H	D	+	1	0	CLPP	6319611	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	8.719000	0.91436	2.583000	0.87209	0.563000	0.77884	GAC	CLPP	-	pfam_ClpP/TepA,prints_ClpP		0.612	CLPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPP	HGNC	protein_coding	OTTHUMT00000452984.1	G	NM_006012		6368611	+1	no_errors	ENST00000245816	ensembl	human	known	70_37	missense	SNP	1.000	C
CLPS	1208	genome.wustl.edu	37	6	35762944	35762944	+	Silent	SNP	G	G	A	rs573352598		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:35762944G>A	ENST00000259938.2	-	3	340	c.318C>T	c.(316-318)gaC>gaT	p.D106D		NM_001832.3	NP_001823.1	P04118	COL_HUMAN	colipase, pancreatic	106					lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(2)|prostate(1)	5						AGCGTCCAGCGTCATGGCAGA	0.597																																					Melanoma(167;2962 3494 37796)												0													271.0	175.0	208.0					6																	35762944		2203	4300	6503	SO:0001819	synonymous_variant	1208				CCDS4811.1, CCDS75437.1, CCDS75438.1	6p21.31	2012-02-06			ENSG00000137392	ENSG00000137392			2085	protein-coding gene	gene with protein product		120105				2045105	Standard	NM_001832		Approved		uc003ole.2	P04118	OTTHUMG00000014578	ENST00000259938.2:c.318C>T	6.37:g.35762944G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T9G7|Q5U809	Silent	SNP	pfam_Colipase_C,pfam_Colipase_N,smart_Colipase,prints_Colipase	p.D106	ENST00000259938.2	37	c.318	CCDS4811.1	6																																																																																			CLPS	-	pfam_Colipase_C,smart_Colipase,prints_Colipase		0.597	CLPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPS	HGNC	protein_coding	OTTHUMT00000040312.1	G	NM_001832		35762944	-1	no_errors	ENST00000259938	ensembl	human	known	70_37	silent	SNP	0.008	A
CLRN1	7401	genome.wustl.edu	37	3	150690496	150690496	+	5'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:150690496G>A	ENST00000327047.1	-	0	290				CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000465576.1_RNA|CLRN1_ENST00000328863.4_5'Flank	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1						actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGCTTGGCATGATGAGAAACG	0.488																																																	0													66.0	63.0	64.0					3																	150690496		2203	4300	6503	SO:0001623	5_prime_UTR_variant	116933			AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.-1C>T	3.37:g.150690496G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNJ3|E1ACU9|Q8N6A9	RNA	SNP	-	NULL	ENST00000327047.1	37	NULL	CCDS3153.1	3																																																																																			CLRN1-AS1	-	-		0.488	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN1-AS1	HGNC	protein_coding	OTTHUMT00000277060.1	G			150690496	+1	no_errors	ENST00000465576	ensembl	human	known	70_37	rna	SNP	0.998	A
CLRN3	119467	genome.wustl.edu	37	10	129682072	129682072	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:129682072C>G	ENST00000368671.3	-	2	459	c.297G>C	c.(295-297)ctG>ctC	p.L99L		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	99						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				TGATCAAACTCAGGACCAGGA	0.463																																																	0													134.0	126.0	129.0					10																	129682072		2203	4300	6503	SO:0001819	synonymous_variant	119467			BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"""transmembrane protein 12"""	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.297G>C	10.37:g.129682072C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6MZX8	Silent	SNP	NULL	p.L99	ENST00000368671.3	37	c.297	CCDS7656.1	10																																																																																			CLRN3	-	NULL		0.463	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN3	HGNC	protein_coding	OTTHUMT00000050987.1	C	NM_152311		129682072	-1	no_errors	ENST00000368671	ensembl	human	known	70_37	silent	SNP	0.003	G
CLTC	1213	genome.wustl.edu	37	17	57754406	57754406	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:57754406G>C	ENST00000269122.3	+	17	2927	c.2653G>C	c.(2653-2655)Gac>Cac	p.D885H	CLTC_ENST00000393043.1_Missense_Mutation_p.D885H|CLTC_ENST00000579456.1_Intron|CLTC_ENST00000579815.1_3'UTR	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	885	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AATCTACATAGACAGTAATAA	0.453			T	"""ALK, TFE3"""	"""ALCL, renal """																																			Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	0													76.0	80.0	79.0					17																	57754406		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2653G>C	17.37:g.57754406G>C	ENSP00000269122:p.Asp885His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.D885H	ENST00000269122.3	37	c.2653	CCDS32696.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.061405	0.93846	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.20738	2.05;2.05	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.60025	0.2237	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.71424	-0.4597	10	0.87932	D	0	.	19.2911	0.94100	0.0:0.0:1.0:0.0	.	885;885	Q00610;Q00610-2	CLH1_HUMAN;.	H	885	ENSP00000269122:D885H;ENSP00000376763:D885H	ENSP00000269122:D885H	D	+	1	0	CLTC	55109188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.751000	0.98889	2.569000	0.86673	0.557000	0.71058	GAC	CLTC	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain		0.453	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	HGNC	protein_coding	OTTHUMT00000258859.1	G	NM_004859		57754406	+1	no_errors	ENST00000269122	ensembl	human	known	70_37	missense	SNP	1.000	C
CLTC	1213	genome.wustl.edu	37	17	57761320	57761320	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:57761320C>G	ENST00000269122.3	+	28	4682	c.4408C>G	c.(4408-4410)Ctt>Gtt	p.L1470V	CLTC_ENST00000393043.1_Missense_Mutation_p.L1470V|CLTC_ENST00000579456.1_Missense_Mutation_p.L407V	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1470	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATTGAACAATCTTTTTATTAC	0.308			T	"""ALK, TFE3"""	"""ALCL, renal """																																			Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	0													60.0	58.0	59.0					17																	57761320		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.4408C>G	17.37:g.57761320C>G	ENSP00000269122:p.Leu1470Val	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.L1470V	ENST00000269122.3	37	c.4408	CCDS32696.1	17	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761766	0.49468	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.25085	1.82;1.82	5.55	5.55	0.83447	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	M	0.63843	1.955	0.80722	D	1	D;B	0.69078	0.997;0.064	D;B	0.87578	0.998;0.185	T	0.44817	-0.9303	10	0.54805	T	0.06	.	19.8621	0.96787	0.0:1.0:0.0:0.0	.	1470;1470	Q00610;Q00610-2	CLH1_HUMAN;.	V	1470	ENSP00000269122:L1470V;ENSP00000376763:L1470V	ENSP00000269122:L1470V	L	+	1	0	CLTC	55116102	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	7.818000	0.86416	2.770000	0.95276	0.563000	0.77884	CTT	CLTC	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain		0.308	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	HGNC	protein_coding	OTTHUMT00000258859.1	C	NM_004859		57761320	+1	no_errors	ENST00000269122	ensembl	human	known	70_37	missense	SNP	1.000	G
CLTCL1	8218	genome.wustl.edu	37	22	19241716	19241716	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:19241716C>T	ENST00000263200.10	-	3	357	c.285G>A	c.(283-285)atG>atA	p.M95I	CLTCL1_ENST00000353891.5_Missense_Mutation_p.M95I|CLTCL1_ENST00000427926.1_Missense_Mutation_p.M95I	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	95	Globular terminal domain.|WD40-like repeat 2.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTTTACTCTTCATCTCAATAT	0.368			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	0													68.0	65.0	66.0					22																	19241716		1851	4109	5960	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.285G>A	22.37:g.19241716C>T	ENSP00000445677:p.Met95Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.M95I	ENST00000263200.10	37	c.285	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	15.70	2.909646	0.52439	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926;ENST00000449918	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	3.9	2.88	0.33553	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.059391	0.64402	U	0.000005	T	0.49150	0.1540	M	0.83692	2.655	0.58432	D	0.999991	B;B	0.17038	0.02;0.014	B;B	0.30855	0.121;0.084	T	0.54077	-0.8347	10	0.66056	D	0.02	-3.567	11.3969	0.49847	0.0:0.9104:0.0:0.0896	.	95;95	P53675-2;P53675	.;CLH2_HUMAN	I	95;95;95;116	ENSP00000439662:M95I;ENSP00000445677:M95I;ENSP00000441158:M95I;ENSP00000443264:M116I	ENSP00000445677:M95I	M	-	3	0	CLTCL1	17621716	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	4.183000	0.58317	0.835000	0.34877	0.563000	0.77884	ATG	CLTCL1	-	superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain		0.368	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	C	NM_007098		19241716	-1	no_errors	ENST00000263200	ensembl	human	known	70_37	missense	SNP	1.000	T
CLTCL1	8218	genome.wustl.edu	37	22	19241721	19241721	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:19241721C>T	ENST00000263200.10	-	3	352	c.280G>A	c.(280-282)Gag>Aag	p.E94K	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E94K|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E94K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	94	Globular terminal domain.|WD40-like repeat 2.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CTCTTCATCTCAATATTAAAG	0.358			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	0													65.0	62.0	63.0					22																	19241721		1843	4105	5948	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.280G>A	22.37:g.19241721C>T	ENSP00000445677:p.Glu94Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.E94K	ENST00000263200.10	37	c.280	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895983	0.91962	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926;ENST00000449918	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	3.9	3.9	0.45041	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.077823	0.50627	U	0.000116	T	0.76162	0.3949	M	0.94063	3.49	0.80722	D	1	D;D	0.62365	0.986;0.991	D;D	0.83275	0.957;0.996	D	0.84208	0.0454	10	0.72032	D	0.01	-8.6801	16.0556	0.80801	0.0:1.0:0.0:0.0	.	94;94	P53675-2;P53675	.;CLH2_HUMAN	K	94;94;94;115	ENSP00000439662:E94K;ENSP00000445677:E94K;ENSP00000441158:E94K;ENSP00000443264:E115K	ENSP00000445677:E94K	E	-	1	0	CLTCL1	17621721	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.930000	0.75858	1.983000	0.57843	0.563000	0.77884	GAG	CLTCL1	-	superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain		0.358	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	C	NM_007098		19241721	-1	no_errors	ENST00000263200	ensembl	human	known	70_37	missense	SNP	1.000	T
CMKLR1	1240	genome.wustl.edu	37	12	108685989	108685989	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:108685989G>A	ENST00000312143.7	-	3	1114	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	CMKLR1_ENST00000550402.1_Missense_Mutation_p.R251C|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R249C|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R251C|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R249C	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	251					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.R249C(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TTGGCCAGGCGGTTGCGCTGC	0.542																																																	1	Substitution - Missense(1)	pancreas(1)											74.0	81.0	78.0					12																	108685989		2110	4233	6343	SO:0001583	missense	1240			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.751C>T	12.37:g.108685989G>A	ENSP00000311733:p.Arg251Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.R251C	ENST00000312143.7	37	c.751	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	g	18.31	3.595690	0.66219	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.45	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.242088	0.40908	D	0.000994	T	0.66694	0.2815	M	0.87971	2.92	0.53005	D	0.999964	D	0.89917	1.0	D	0.80764	0.994	T	0.70699	-0.4800	10	0.52906	T	0.07	.	12.6598	0.56808	0.0:0.0:0.706:0.294	.	251	Q99788	CML1_HUMAN	C	251;251;249;249;251	ENSP00000311733:R251C;ENSP00000401293:R251C;ENSP00000380803:R249C;ENSP00000447579:R249C;ENSP00000449716:R251C	ENSP00000311733:R251C	R	-	1	0	CMKLR1	107210119	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.166000	0.50785	2.563000	0.86464	0.550000	0.68814	CGC	CMKLR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_Frt_met_rcpt,prints_Anphylx_rcpt		0.542	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1	G			108685989	-1	no_errors	ENST00000312143	ensembl	human	known	70_37	missense	SNP	1.000	A
CMYA5	202333	genome.wustl.edu	37	5	79029027	79029027	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:79029027C>G	ENST00000446378.2	+	2	4470	c.4439C>G	c.(4438-4440)tCt>tGt	p.S1480C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1480					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACATCATCTTCTCAGCATTCA	0.393																																																	0													92.0	89.0	90.0					5																	79029027		1851	4096	5947	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4439C>G	5.37:g.79029027C>G	ENSP00000394770:p.Ser1480Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S1480C	ENST00000446378.2	37	c.4439	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	9.735	1.163392	0.21538	.	.	ENSG00000164309	ENST00000446378	T	0.44083	0.93	4.84	3.96	0.45880	.	0.646131	0.12919	N	0.428353	T	0.30324	0.0761	N	0.22421	0.69	0.22610	N	0.998931	B	0.22414	0.069	B	0.17433	0.018	T	0.22034	-1.0228	10	0.56958	D	0.05	.	11.046	0.47859	0.0:0.8128:0.1872:0.0	.	1480	Q8N3K9	CMYA5_HUMAN	C	1480	ENSP00000394770:S1480C	ENSP00000394770:S1480C	S	+	2	0	CMYA5	79064783	0.516000	0.26218	0.432000	0.26747	0.007000	0.05969	1.431000	0.34925	1.256000	0.44068	0.655000	0.94253	TCT	CMYA5	-	NULL		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	C	NM_153610		79029027	+1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.870	G
CNBD2	140894	genome.wustl.edu	37	20	34599058	34599058	+	Splice_Site	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:34599058G>A	ENST00000373973.3	+	10	1321		c.e10-1		CNBD2_ENST00000349339.1_Splice_Site|CNBD2_ENST00000538900.1_Splice_Site			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2																		TCACATTTCAGATCCAGGCCT	0.547																																																	0													74.0	68.0	70.0					20																	34599058		2203	4300	6503	SO:0001630	splice_region_variant	140894			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1149-1G>A	20.37:g.34599058G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Splice_Site	SNP	-	e10-1	ENST00000373973.3	37	c.1149-1		20	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396079	0.62177	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5533	0.56240	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C20orf152	34062472	0.999000	0.42202	1.000000	0.80357	0.644000	0.38419	2.244000	0.43124	2.673000	0.90976	0.655000	0.94253	.	CNBD2	-	-		0.547	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	HGNC	protein_coding	OTTHUMT00000078960.2	G	NM_080834	Intron	34599058	+1	no_errors	ENST00000373973	ensembl	human	known	70_37	splice_site	SNP	1.000	A
CNBD2	140894	genome.wustl.edu	37	20	34618306	34618306	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:34618306C>G	ENST00000373973.3	+	12	1640	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	CNBD2_ENST00000349339.1_Silent_p.L485L|CNBD2_ENST00000538900.1_3'UTR			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	489																	AGAAGTTCCTCCAGCAGAACA	0.557																																																	0													104.0	101.0	102.0					20																	34618306		2203	4300	6503	SO:0001819	synonymous_variant	140894			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1467C>G	20.37:g.34618306C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L489	ENST00000373973.3	37	c.1467		20																																																																																			CNBD2	-	NULL		0.557	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	HGNC	protein_coding	OTTHUMT00000078960.2	C	NM_080834		34618306	+1	no_errors	ENST00000373973	ensembl	human	known	70_37	silent	SNP	0.116	G
CNKSR1	10256	genome.wustl.edu	37	1	26515969	26515969	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:26515969C>G	ENST00000374253.5	+	21	2132	c.2093C>G	c.(2092-2094)tCt>tGt	p.S698C	CNKSR1_ENST00000531191.1_Missense_Mutation_p.S433C|CNKSR1_ENST00000361530.6_Missense_Mutation_p.S691C|CATSPER4_ENST00000456354.2_5'Flank	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	698					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCTGCCCTCTGACCCTGAA	0.627																																					NSCLC(180;1396 2109 28270 30756 34275)												0													135.0	138.0	137.0					1																	26515969		2203	4300	6503	SO:0001583	missense	10256			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.2093C>G	1.37:g.26515969C>G	ENSP00000363371:p.Ser698Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AMW9|O95381	Missense_Mutation	SNP	pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.S698C	ENST00000374253.5	37	c.2093		1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742777	0.49151	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.16457	2.37;2.37;2.34	5.54	3.62	0.41486	.	0.479431	0.21456	N	0.074246	T	0.21307	0.0513	L	0.51422	1.61	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.52710	0.707;0.707	T	0.08146	-1.0736	10	0.48119	T	0.1	-6.3068	4.6833	0.12745	0.1223:0.616:0.119:0.1427	.	698;691	Q969H4;Q53GM7	CNKR1_HUMAN;.	C	691;698;433	ENSP00000354609:S691C;ENSP00000363371:S698C;ENSP00000431817:S433C	ENSP00000354609:S691C	S	+	2	0	CNKSR1	26388556	0.000000	0.05858	0.770000	0.31555	0.594000	0.36715	0.164000	0.16542	1.313000	0.45069	0.655000	0.94253	TCT	CNKSR1	-	NULL		0.627	CNKSR1-007	KNOWN	basic	protein_coding	CNKSR1	HGNC	protein_coding	OTTHUMT00000089943.2	C	NM_006314		26515969	+1	no_errors	ENST00000374253	ensembl	human	known	70_37	missense	SNP	0.005	G
CNKSR2	22866	genome.wustl.edu	37	X	21627323	21627323	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:21627323G>C	ENST00000379510.3	+	20	2316	c.2280G>C	c.(2278-2280)aaG>aaC	p.K760N	CNKSR2_ENST00000543067.1_Missense_Mutation_p.K711N|CNKSR2_ENST00000279451.4_Missense_Mutation_p.K760N|CNKSR2_ENST00000425654.2_Missense_Mutation_p.K730N	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	760					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CCATTCGCAAGACAGCCAGTC	0.527																																																	0													85.0	84.0	85.0					X																	21627323		2203	4300	6503	SO:0001583	missense	22866			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2280G>C	X.37:g.21627323G>C	ENSP00000368824:p.Lys760Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.K760N	ENST00000379510.3	37	c.2280	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225333	0.39300	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.19669	2.39;2.13;2.15;2.41	5.51	4.65	0.58169	.	0.088206	0.85682	D	0.000000	T	0.29190	0.0726	L	0.60455	1.87	0.46701	D	0.999169	P;P;D;P	0.54772	0.893;0.937;0.968;0.893	B;P;P;P	0.53450	0.405;0.51;0.726;0.51	T	0.04065	-1.0980	10	0.25106	T	0.35	-24.3466	8.1718	0.31260	0.2466:0.0:0.7534:0.0	.	730;711;352;760	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	N	730;711;760;760	ENSP00000397906:K730N;ENSP00000444633:K711N;ENSP00000279451:K760N;ENSP00000368824:K760N	ENSP00000279451:K760N	K	+	3	2	CNKSR2	21537244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.317000	0.51968	1.083000	0.41159	0.513000	0.50165	AAG	CNKSR2	-	NULL		0.527	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	G	NM_014927		21627323	+1	no_errors	ENST00000379510	ensembl	human	known	70_37	missense	SNP	1.000	C
CNNM1	26507	genome.wustl.edu	37	10	101090206	101090206	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:101090206C>T	ENST00000356713.4	+	1	1351	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	CNNM1_ENST00000446890.1_Silent_p.I283I|CNNM1_ENST00000370534.4_5'UTR|CNNM1_ENST00000370528.3_Silent_p.I283I	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	354	DUF21.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GGCTGGCCATCGCCTCGCACA	0.701																																																	0													8.0	10.0	9.0					10																	101090206		2188	4265	6453	SO:0001819	synonymous_variant	26507			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1062C>T	10.37:g.101090206C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	pfam_DUF21,pfam_Cysta_beta_synth_core	p.I354	ENST00000356713.4	37	c.1062	CCDS7478.2	10																																																																																			CNNM1	-	pfam_DUF21		0.701	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM1	HGNC	protein_coding	OTTHUMT00000049792.2	C	NM_020348		101090206	+1	no_errors	ENST00000356713	ensembl	human	known	70_37	silent	SNP	1.000	T
CNTD1	124817	genome.wustl.edu	37	17	40951157	40951157	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:40951157G>A	ENST00000588408.1	+	1	348	c.72G>A	c.(70-72)acG>acA	p.T24T	CNTD1_ENST00000588527.1_Intron|COA3_ENST00000328434.7_5'Flank	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	24										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCACAGAGACGATTGAAGACG	0.617																																																	0													54.0	49.0	51.0					17																	40951157		2203	4300	6503	SO:0001819	synonymous_variant	124817			AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.72G>A	17.37:g.40951157G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q658Q6|Q8NEP1	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like	p.T24	ENST00000588408.1	37	c.72	CCDS11440.1	17																																																																																			CNTD1	-	superfamily_Cyclin-like		0.617	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTD1	HGNC	protein_coding	OTTHUMT00000452398.1	G	NM_173478		40951157	+1	no_errors	ENST00000588408	ensembl	human	known	70_37	silent	SNP	0.790	A
CNTN1	1272	genome.wustl.edu	37	12	41374753	41374753	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:41374753G>T	ENST00000551295.2	+	16	1964	c.1847G>T	c.(1846-1848)aGa>aTa	p.R616I	CNTN1_ENST00000347616.1_Missense_Mutation_p.R616I|CNTN1_ENST00000348761.2_Missense_Mutation_p.R605I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	616	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAAGACATTAGAGCCACTTCT	0.438																																																	0													132.0	134.0	134.0					12																	41374753		2203	4300	6503	SO:0001583	missense	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1847G>T	12.37:g.41374753G>T	ENSP00000447006:p.Arg616Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R616I	ENST00000551295.2	37	c.1847	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440032	0.63067	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.58060	0.36;0.36;0.36	4.69	4.69	0.59074	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.113900	0.64402	D	0.000013	T	0.52484	0.1737	L	0.45581	1.43	0.80722	D	1	P;P	0.39216	0.613;0.664	B;P	0.45538	0.352;0.484	T	0.51787	-0.8661	10	0.41790	T	0.15	.	12.9719	0.58517	0.0797:0.0:0.9203:0.0	.	605;616	Q12860-2;Q12860	.;CNTN1_HUMAN	I	616;616;605	ENSP00000447006:R616I;ENSP00000325660:R616I;ENSP00000261160:R605I	ENSP00000325660:R616I	R	+	2	0	CNTN1	39661020	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	2.279000	0.43435	2.540000	0.85666	0.655000	0.94253	AGA	CNTN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.438	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	G	NM_001843		41374753	+1	no_errors	ENST00000347616	ensembl	human	known	70_37	missense	SNP	0.996	T
CNTNAP1	8506	genome.wustl.edu	37	17	40847810	40847810	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:40847810C>T	ENST00000264638.4	+	19	3481	c.3264C>T	c.(3262-3264)ttC>ttT	p.F1088F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1088	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CCTTCAGCTTCAGCACCAGCT	0.622																																																	0													103.0	88.0	93.0					17																	40847810		2203	4300	6503	SO:0001819	synonymous_variant	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3264C>T	17.37:g.40847810C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F1088	ENST00000264638.4	37	c.3264	CCDS11436.1	17																																																																																			CNTNAP1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.622	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	C	NM_003632		40847810	+1	no_errors	ENST00000264638	ensembl	human	known	70_37	silent	SNP	1.000	T
CNTNAP5	129684	genome.wustl.edu	37	2	125671805	125671805	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:125671805C>T	ENST00000431078.1	+	24	4225	c.3861C>T	c.(3859-3861)ttC>ttT	p.F1287F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1287					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACAGTTCCTTCAGAAATGAAA	0.433																																																	0													119.0	118.0	118.0					2																	125671805		1901	4126	6027	SO:0001819	synonymous_variant	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3861C>T	2.37:g.125671805C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F1287	ENST00000431078.1	37	c.3861	CCDS46401.1	2																																																																																			CNTNAP5	-	NULL		0.433	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	C			125671805	+1	no_errors	ENST00000431078	ensembl	human	known	70_37	silent	SNP	0.999	T
COA3	28958	genome.wustl.edu	37	17	40950669	40950669	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:40950669C>G	ENST00000328434.7	-	1	53	c.31G>C	c.(31-33)Gat>Cat	p.D11H	CNTD1_ENST00000588408.1_5'Flank|CNTD1_ENST00000588527.1_5'Flank	NM_001040431.1	NP_001035521.1	Q9Y2R0	COA3_HUMAN	cytochrome c oxidase assembly factor 3	11					mitochondrial respiratory chain complex IV assembly (GO:0033617)|positive regulation of mitochondrial translation (GO:0070131)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrion (GO:0005739)											CGCTTAGAATCCAGAGGGTCA	0.662																																																	0													50.0	45.0	47.0					17																	40950669		2203	4300	6503	SO:0001583	missense	28958			AF070665	CCDS32660.1	17q21.31	2014-01-28	2012-10-15	2012-08-07				"""Mitochondrial respiratory chain complex assembly factors"""	24990	protein-coding gene	gene with protein product		614775	"""coiled-coil domain containing 56"""	CCDC56		22356826, 22610097	Standard	NM_001040431		Approved	HSPC009, MITRAC12	uc010wgz.2	Q9Y2R0		ENST00000328434.7:c.31G>C	17.37:g.40950669C>G	ENSP00000354762:p.Asp11His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K498	Missense_Mutation	SNP	pfam_Coiled-coil_56	p.D11H	ENST00000328434.7	37	c.31	CCDS32660.1	17	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310601	0.40895	.	.	ENSG00000183978	ENST00000328434	.	.	.	5.28	2.18	0.27775	.	0.640737	0.14747	N	0.300821	T	0.40862	0.1134	N	0.22421	0.69	0.09310	N	1	P	0.43542	0.81	P	0.55222	0.771	T	0.20505	-1.0273	9	0.38643	T	0.18	-4.1659	8.6048	0.33767	0.0:0.686:0.0:0.314	.	11	Q9Y2R0	CCD56_HUMAN	H	11	.	ENSP00000354762:D11H	D	-	1	0	CCDC56	38204195	.	.	0.004000	0.12327	0.017000	0.09413	.	.	0.363000	0.24346	0.655000	0.94253	GAT	COA3	-	pfam_Coiled-coil_56		0.662	COA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COA3	HGNC	protein_coding	OTTHUMT00000452397.1	C	NM_014019		40950669	-1	no_errors	ENST00000328434	ensembl	human	known	70_37	missense	SNP	0.004	G
COBL	23242	genome.wustl.edu	37	7	51098509	51098509	+	Splice_Site	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:51098509C>T	ENST00000265136.7	-	9	1669	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	COBL_ENST00000395542.2_Splice_Site_p.E584K	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	502					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGGTTCTTACCTTCCAGGTCT	0.418																																					NSCLC(189;2119 2138 12223 30818 34679)												0													174.0	163.0	167.0					7																	51098509		2203	4300	6503	SO:0001630	splice_region_variant	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1504+1G>A	7.37:g.51098509C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.E584K	ENST00000265136.7	37	c.1750	CCDS34637.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.30|16.30	3.083949|3.083949	0.55861|0.55861	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542|ENST00000452534	T;T;T;T|.	0.23950|.	1.88;1.88;1.88;1.88|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.493626|.	0.17185|.	N|.	0.183729|.	T|T	0.50854|0.50854	0.1640|0.1640	L|L	0.27053|0.27053	0.805|0.805	0.34227|0.34227	D|D	0.676112|0.676112	B;B;P;P;P|.	0.52316|.	0.187;0.187;0.651;0.867;0.952|.	B;B;B;B;B|.	0.43916|.	0.152;0.152;0.212;0.382;0.436|.	T|T	0.58335|0.58335	-0.7654|-0.7654	9|5	.|.	.|.	.|.	.|.	17.6761|17.6761	0.88232|0.88232	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	502;559;502;584;44|.	O75128-3;O75128-7;O75128;O75128-2;O75128-6|.	.;.;COBL_HUMAN;.;.|.	K|K	502;394;387;584|477	ENSP00000265136:E502K;ENSP00000401204:E394K;ENSP00000413498:E387K;ENSP00000378912:E584K|.	.|.	E|R	-|-	1|2	0|0	COBL|COBL	51066003|51066003	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.691000|0.691000	0.40173|0.40173	5.431000|5.431000	0.66507|0.66507	2.503000|2.503000	0.84419|0.84419	0.650000|0.650000	0.86243|0.86243	GAA|AGA	COBL	-	NULL		0.418	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	HGNC	protein_coding	OTTHUMT00000342682.1	C	NM_015198	Missense_Mutation	51098509	-1	no_errors	ENST00000395542	ensembl	human	known	70_37	missense	SNP	1.000	T
COG2	22796	genome.wustl.edu	37	1	230823905	230823905	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:230823905G>C	ENST00000366669.4	+	14	1766				COG2_ENST00000535166.1_Intron|COG2_ENST00000366668.3_Intron|COG2_ENST00000546013.1_Intron|COG2_ENST00000534989.1_Intron|COG2_ENST00000490900.1_3'UTR	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2						Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AATGAATCTTGACTAAGCAAA	0.284																																																	0													23.0	25.0	24.0					1																	230823905		2186	4270	6456	SO:0001627	intron_variant	22796			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1651+16G>C	1.37:g.230823905G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86U99	RNA	SNP	-	NULL	ENST00000366669.4	37	NULL	CCDS1584.1	1																																																																																			COG2	-	-		0.284	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COG2	HGNC	protein_coding	OTTHUMT00000092087.1	G	NM_007357		230823905	+1	no_errors	ENST00000490900	ensembl	human	known	70_37	rna	SNP	0.002	C
COG5	10466	genome.wustl.edu	37	7	106851011	106851011	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:106851011C>G	ENST00000347053.3	-	20	2415	c.2365G>C	c.(2365-2367)Gat>Cat	p.D789H	COG5_ENST00000297135.3_Missense_Mutation_p.D810H|COG5_ENST00000393603.2_Missense_Mutation_p.D810H	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	789					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GGATGGTCATCCAGCCACTGA	0.542																																																	0													60.0	50.0	53.0					7																	106851011		2203	4299	6502	SO:0001583	missense	10466			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.2365G>C	7.37:g.106851011C>G	ENSP00000334703:p.Asp789His	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	pfam_COG_su5,pfam_Vps51	p.D810H	ENST00000347053.3	37	c.2428	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791729	0.90453	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.27104	1.69;1.75;1.75	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.68819	-0.5308	10	0.66056	D	0.02	-19.1543	18.9146	0.92499	0.0:1.0:0.0:0.0	.	789;810	Q9UP83;Q9UP83-2	COG5_HUMAN;.	H	789;810;810	ENSP00000334703:D789H;ENSP00000297135:D810H;ENSP00000377228:D810H	ENSP00000297135:D810H	D	-	1	0	COG5	106638247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.986000	0.63851	2.582000	0.87167	0.655000	0.94253	GAT	COG5	-	NULL		0.542	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4	C			106851011	-1	no_errors	ENST00000297135	ensembl	human	known	70_37	missense	SNP	1.000	G
COL14A1	7373	genome.wustl.edu	37	8	121301998	121301998	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:121301998C>G	ENST00000297848.3	+	34	4499	c.4229C>G	c.(4228-4230)tCt>tGt	p.S1410C	COL14A1_ENST00000309791.4_Missense_Mutation_p.S1410C|COL14A1_ENST00000247781.3_Missense_Mutation_p.S1315C	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGTGGAAACTCTGCACCGGTA	0.418																																																	0													125.0	113.0	117.0					8																	121301998		2203	4300	6503	SO:0001583	missense	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4229C>G	8.37:g.121301998C>G	ENSP00000297848:p.Ser1410Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.S1410C	ENST00000297848.3	37	c.4229	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281962	0.59867	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.02525	4.26;4.26;4.26	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00036	-1.2256	10	0.87932	D	0	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	1410	Q05707	COEA1_HUMAN	C	1410;1410;1315	ENSP00000311809:S1410C;ENSP00000297848:S1410C;ENSP00000247781:S1315C	ENSP00000247781:S1315C	S	+	2	0	COL14A1	121371179	1.000000	0.71417	0.995000	0.50966	0.065000	0.16274	7.213000	0.77950	2.894000	0.99253	0.591000	0.81541	TCT	COL14A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.418	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	C	NM_021110		121301998	+1	no_errors	ENST00000297848	ensembl	human	known	70_37	missense	SNP	1.000	G
COL1A1	1277	genome.wustl.edu	37	17	48276789	48276789	+	Missense_Mutation	SNP	C	C	T	rs35183627		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:48276789C>T	ENST00000225964.5	-	4	477	c.359G>A	c.(358-360)cGa>cAa	p.R120Q		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	120					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CCTTGGGCCTCGGGGGCCAGT	0.682			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																																	Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	0													32.0	38.0	36.0					17																	48276789		2203	4300	6503	SO:0001583	missense	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.359G>A	17.37:g.48276789C>T	ENSP00000225964:p.Arg120Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.R120Q	ENST00000225964.5	37	c.359	CCDS11561.1	17	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230878	0.58777	.	.	ENSG00000108821	ENST00000225964	D	0.92752	-3.1	5.43	4.45	0.53987	.	0.231983	0.33057	N	0.005331	T	0.81870	0.4914	N	0.11131	0.1	0.30199	N	0.798793	B	0.10296	0.003	B	0.06405	0.002	T	0.71991	-0.4425	10	0.18276	T	0.48	.	11.1082	0.48216	0.0:0.9081:0.0:0.0919	rs35183627	120	P02452	CO1A1_HUMAN	Q	120	ENSP00000225964:R120Q	ENSP00000225964:R120Q	R	-	2	0	COL1A1	45631788	0.992000	0.36948	1.000000	0.80357	0.988000	0.76386	0.543000	0.23237	1.261000	0.44149	0.455000	0.32223	CGA	COL1A1	-	pfam_Collagen		0.682	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	HGNC	protein_coding	OTTHUMT00000309036.2	C			48276789	-1	no_errors	ENST00000225964	ensembl	human	known	70_37	missense	SNP	1.000	T
COL27A1	85301	genome.wustl.edu	37	9	117037965	117037965	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:117037965G>C	ENST00000356083.3	+	37	4025	c.3634G>C	c.(3634-3636)Gat>Cat	p.D1212H		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1212	Collagen-like 10.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCCAGGGCCTGATGGAGAACA	0.637																																																	0													25.0	22.0	23.0					9																	117037965		1945	3822	5767	SO:0001583	missense	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3634G>C	9.37:g.117037965G>C	ENSP00000348385:p.Asp1212His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.D1212H	ENST00000356083.3	37	c.3634	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283251	0.40394	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93763	-3.28	4.83	4.83	0.62350	.	.	.	.	.	D	0.94968	0.8372	L	0.52266	1.64	0.41217	D	0.986484	D	0.89917	1.0	D	0.74674	0.984	D	0.94827	0.7992	9	0.51188	T	0.08	.	13.7885	0.63123	0.0:0.0:1.0:0.0	.	1212	Q8IZC6	CORA1_HUMAN	H	1212	ENSP00000348385:D1212H	ENSP00000348385:D1212H	D	+	1	0	COL27A1	116077786	1.000000	0.71417	0.971000	0.41717	0.655000	0.38815	5.937000	0.70162	2.387000	0.81309	0.462000	0.41574	GAT	COL27A1	-	NULL		0.637	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	G	NM_032888		117037965	+1	no_errors	ENST00000356083	ensembl	human	known	70_37	missense	SNP	0.993	C
COL2A1	1280	genome.wustl.edu	37	12	48368503	48368503	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:48368503C>G	ENST00000380518.3	-	52	4193	c.4029G>C	c.(4027-4029)gaG>gaC	p.E1343D	COL2A1_ENST00000337299.6_Missense_Mutation_p.E1274D|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1343	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGTGTTTCTTCTCCTTGCTCT	0.498																																																	0													206.0	194.0	198.0					12																	48368503		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.4029G>C	12.37:g.48368503C>G	ENSP00000369889:p.Glu1343Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.E1343D	ENST00000380518.3	37	c.4029	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	9.092	1.001937	0.19121	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.90385	-2.66;-2.66	4.93	-3.74	0.04385	Fibrillar collagen, C-terminal (3);	0.535424	0.18577	N	0.137164	T	0.72645	0.3486	N	0.12527	0.23	0.29294	N	0.869182	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.63686	-0.6581	10	0.07482	T	0.82	.	5.7961	0.18387	0.0818:0.1279:0.5023:0.2879	.	1274;1343	P02458-1;P02458	.;CO2A1_HUMAN	D	1343;1274;1274	ENSP00000369889:E1343D;ENSP00000338213:E1274D	ENSP00000338213:E1274D	E	-	3	2	COL2A1	46654770	0.011000	0.17503	0.906000	0.35671	0.993000	0.82548	-1.106000	0.03319	-0.321000	0.08627	0.561000	0.74099	GAG	COL2A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C		0.498	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	C	NM_001844		48368503	-1	no_errors	ENST00000380518	ensembl	human	known	70_37	missense	SNP	0.951	G
COL2A1	1280	genome.wustl.edu	37	12	48393822	48393822	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:48393822C>T	ENST00000380518.3	-	2	336	c.172G>A	c.(172-174)Gac>Aac	p.D58N	COL2A1_ENST00000337299.6_Intron	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	58	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GTCCCAGTGTCACAGACACAG	0.577																																																	0			GRCh37	CD021813	COL2A1	D							62.0	69.0	67.0					12																	48393822		2111	4248	6359	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.172G>A	12.37:g.48393822C>T	ENSP00000369889:p.Asp58Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.D58N	ENST00000380518.3	37	c.172	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	24.3	4.510868	0.85389	.	.	ENSG00000139219	ENST00000380518	T	0.72394	-0.65	4.56	4.56	0.56223	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.82449	0.5039	M	0.66506	2.035	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.84305	0.0507	10	0.66056	D	0.02	.	16.6321	0.85036	0.0:1.0:0.0:0.0	.	58	P02458	CO2A1_HUMAN	N	58	ENSP00000369889:D58N	ENSP00000369889:D58N	D	-	1	0	COL2A1	46680089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.527000	0.85204	0.563000	0.77884	GAC	COL2A1	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C		0.577	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	C	NM_001844		48393822	-1	no_errors	ENST00000380518	ensembl	human	known	70_37	missense	SNP	1.000	T
COL4A2	1284	genome.wustl.edu	37	13	111109743	111109743	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:111109743C>T	ENST00000360467.5	+	21	1699	c.1393C>T	c.(1393-1395)Ccc>Tcc	p.P465S	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	465	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCTGGGCTTCCCGGCTCCCC	0.602																																																	0													59.0	64.0	62.0					13																	111109743		1903	4110	6013	SO:0001583	missense	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1393C>T	13.37:g.111109743C>T	ENSP00000353654:p.Pro465Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P465S	ENST00000360467.5	37	c.1393	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	C	2.118	-0.402009	0.04865	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.96587	-4.06	4.52	-0.871	0.10642	.	0.686206	0.12260	N	0.484782	D	0.90769	0.7102	L	0.46947	1.48	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.77443	-0.2586	10	0.07813	T	0.8	.	4.5571	0.12141	0.0:0.4204:0.1904:0.3892	.	465	P08572	CO4A2_HUMAN	S	465	ENSP00000353654:P465S	ENSP00000257309:P465S	P	+	1	0	COL4A2	109907744	0.000000	0.05858	0.034000	0.17996	0.130000	0.20726	0.221000	0.17680	-0.057000	0.13199	-0.487000	0.04747	CCC	COL4A2	-	pfam_Collagen		0.602	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	C	NM_001846		111109743	+1	no_errors	ENST00000360467	ensembl	human	known	70_37	missense	SNP	0.016	T
COL6A1	1291	genome.wustl.edu	37	21	47410899	47410899	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:47410899C>G	ENST00000361866.3	+	15	1177	c.1063C>G	c.(1063-1065)Caa>Gaa	p.Q355E		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	355	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CCAGGGCATTCAAGGACCCCC	0.637																																																	0													46.0	53.0	51.0					21																	47410899		2203	4300	6503	SO:0001583	missense	1291			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1063C>G	21.37:g.47410899C>G	ENSP00000355180:p.Gln355Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.Q355E	ENST00000361866.3	37	c.1063	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	C	7.986	0.752137	0.15778	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.93247	-3.19	4.82	3.89	0.44902	.	0.145076	0.46758	D	0.000266	D	0.89378	0.6698	L	0.39692	1.235	0.46260	D	0.998956	B	0.30326	0.276	B	0.36186	0.219	D	0.85154	0.0988	10	0.09590	T	0.72	-5.9735	14.1048	0.65080	0.0:0.849:0.151:0.0	.	355	P12109	CO6A1_HUMAN	E	355	ENSP00000355180:Q355E	ENSP00000355180:Q355E	Q	+	1	0	COL6A1	46235327	0.971000	0.33674	0.988000	0.46212	0.792000	0.44763	2.571000	0.45990	2.222000	0.72286	0.478000	0.44815	CAA	COL6A1	-	NULL		0.637	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	C	NM_001848		47410899	+1	no_errors	ENST00000361866	ensembl	human	known	70_37	missense	SNP	1.000	G
COL6A1	1291	genome.wustl.edu	37	21	47423314	47423314	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:47423314C>G	ENST00000361866.3	+	35	2588	c.2474C>G	c.(2473-2475)tCc>tGc	p.S825C	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	825	C-terminal globular domain.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GTCACGTTCTCCTCCCCGGCT	0.682																																																	0													24.0	28.0	27.0					21																	47423314		2172	4214	6386	SO:0001583	missense	1291			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2474C>G	21.37:g.47423314C>G	ENSP00000355180:p.Ser825Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.S825C	ENST00000361866.3	37	c.2474	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141520	0.37825	.	.	ENSG00000142156	ENST00000361866	T	0.79141	-1.24	4.84	4.84	0.62591	.	0.368418	0.26820	N	0.022325	T	0.67979	0.2951	N	0.14661	0.345	0.28044	N	0.933616	D	0.63880	0.993	P	0.49999	0.628	T	0.64901	-0.6298	10	0.56958	D	0.05	-3.3661	9.7292	0.40350	0.1573:0.6905:0.1521:0.0	.	825	P12109	CO6A1_HUMAN	C	825	ENSP00000355180:S825C	ENSP00000355180:S825C	S	+	2	0	COL6A1	46247742	0.001000	0.12720	0.998000	0.56505	0.474000	0.32979	1.395000	0.34520	2.234000	0.73211	0.530000	0.56133	TCC	COL6A1	-	NULL		0.682	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	C	NM_001848		47423314	+1	no_errors	ENST00000361866	ensembl	human	known	70_37	missense	SNP	0.743	G
COL6A2	1292	genome.wustl.edu	37	21	47545434	47545434	+	Silent	SNP	G	G	A	rs147566231		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:47545434G>A	ENST00000300527.4	+	25	1976	c.1872G>A	c.(1870-1872)gaG>gaA	p.E624E	COL6A2_ENST00000310645.5_Silent_p.E624E|COL6A2_ENST00000357838.4_Silent_p.E624E|COL6A2_ENST00000397763.1_Silent_p.E624E|COL6A2_ENST00000409416.1_Silent_p.E624E	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	624	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACAGCTCCGAGAGCATTGGGT	0.607																																																	0								G	,,	1,4405	2.1+/-5.4	0,1,2202	87.0	69.0	75.0		1872,1872,1872	4.1	1.0	21	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	624/1020,624/919,624/829	47545434	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1872G>A	21.37:g.47545434G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.E624	ENST00000300527.4	37	c.1872	CCDS13728.1	21																																																																																			COL6A2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.607	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	G			47545434	+1	no_errors	ENST00000300527	ensembl	human	known	70_37	silent	SNP	1.000	A
COL6A3	1293	genome.wustl.edu	37	2	238261167	238261167	+	Silent	SNP	G	G	T	rs116690555	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:238261167G>T	ENST00000295550.4	-	26	7203	c.6751C>A	c.(6751-6753)Cgg>Agg	p.R2251R	COL6A3_ENST00000346358.4_Silent_p.R2051R|COL6A3_ENST00000347401.3_Silent_p.R2050R|COL6A3_ENST00000409809.1_Silent_p.R2045R|COL6A3_ENST00000353578.4_Silent_p.R2045R|COL6A3_ENST00000472056.1_Silent_p.R1644R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2251	Collagen-like 4.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGCTTACCCGAGGTCCAGAA	0.537																																																	0													85.0	69.0	75.0					2																	238261167		2203	4300	6503	SO:0001819	synonymous_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6751C>A	2.37:g.238261167G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R2251	ENST00000295550.4	37	c.6751	CCDS33412.1	2																																																																																			COL6A3	-	NULL		0.537	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	G	NM_004369		238261167	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	silent	SNP	0.986	T
COL7A1	1294	genome.wustl.edu	37	3	48624494	48624494	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:48624494G>C	ENST00000328333.8	-	24	3294	c.3187C>G	c.(3187-3189)Caa>Gaa	p.Q1063E	COL7A1_ENST00000454817.1_Missense_Mutation_p.Q1063E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1063	Nonhelical region (NC1).|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCATTGTCTTGAGTGGCATGT	0.612																																																	0													76.0	64.0	68.0					3																	48624494		2202	4300	6502	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3187C>G	3.37:g.48624494G>C	ENSP00000332371:p.Gln1063Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.Q1063E	ENST00000328333.8	37	c.3187	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	G	5.937	0.356968	0.11239	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.76316	-1.01;-1.01	5.91	3.91	0.45181	von Willebrand factor, type A (1);	0.624529	0.13152	N	0.409781	T	0.64638	0.2616	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.18871	0.023	T	0.54309	-0.8313	10	0.35671	T	0.21	.	14.8075	0.69968	0.0:0.0:0.7269:0.2731	.	1063	Q02388	CO7A1_HUMAN	E	1063	ENSP00000332371:Q1063E;ENSP00000412569:Q1063E	ENSP00000332371:Q1063E	Q	-	1	0	COL7A1	48599498	0.045000	0.20229	0.560000	0.28344	0.489000	0.33432	1.300000	0.33436	1.470000	0.48102	0.655000	0.94253	CAA	COL7A1	-	pfscan_VWF_A		0.612	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	G	NM_000094		48624494	-1	no_errors	ENST00000328333	ensembl	human	known	70_37	missense	SNP	0.030	C
COLQ	8292	genome.wustl.edu	37	3	15516911	15516911	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:15516911C>G	ENST00000383788.5	-	7	654				COLQ_ENST00000383785.2_Intron|COLQ_ENST00000435459.2_Intron|COLQ_ENST00000383787.2_Intron|COLQ_ENST00000603808.1_Intron|COLQ_ENST00000383786.5_Intron|COLQ_ENST00000383781.4_Intron	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase						acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CTGGGAACGTCCATTTGGACC	0.552																																																	0													62.0	41.0	48.0					3																	15516911		2203	4299	6502	SO:0001627	intron_variant	8292			AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.528+20G>C	3.37:g.15516911C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	RNA	SNP	-	NULL	ENST00000383788.5	37	NULL	CCDS33709.1	3																																																																																			COLQ	-	-		0.552	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COLQ	HGNC	protein_coding	OTTHUMT00000343575.1	C	NM_005677		15516911	-1	no_errors	ENST00000495788	ensembl	human	putative	70_37	rna	SNP	0.001	G
COL8A1	1295	genome.wustl.edu	37	3	99514522	99514522	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:99514522G>C	ENST00000261037.3	+	5	2157	c.1777G>C	c.(1777-1779)Gat>Cat	p.D593H	COL8A1_ENST00000273342.4_Missense_Mutation_p.D593H	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	593	Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GCTGGGAATTGATGGCGTGAA	0.607																																																	0													50.0	50.0	50.0					3																	99514522		2203	4300	6503	SO:0001583	missense	1295			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1777G>C	3.37:g.99514522G>C	ENSP00000261037:p.Asp593His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.D593H	ENST00000261037.3	37	c.1777	CCDS2934.1	3	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407663	0.25378	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.91351	-2.83;-2.83	5.58	5.58	0.84498	.	0.443981	0.25714	N	0.028785	D	0.83078	0.5176	N	0.08118	0	0.48185	D	0.999604	B;B	0.26258	0.145;0.145	B;B	0.28638	0.092;0.092	T	0.80897	-0.1177	10	0.59425	D	0.04	.	17.05	0.86516	0.0:0.0:1.0:0.0	.	594;593	E7EPK9;P27658	.;CO8A1_HUMAN	H	593	ENSP00000261037:D593H;ENSP00000273342:D593H	ENSP00000261037:D593H	D	+	1	0	COL8A1	100997212	1.000000	0.71417	0.918000	0.36340	0.974000	0.67602	9.518000	0.98022	2.630000	0.89119	0.563000	0.77884	GAT	COL8A1	-	NULL		0.607	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	G	NM_001850		99514522	+1	no_errors	ENST00000261037	ensembl	human	known	70_37	missense	SNP	0.889	C
COMMD6	170622	genome.wustl.edu	37	13	76104529	76104529	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:76104529C>G	ENST00000377615.3	-	4	219				COMMD6_ENST00000377619.5_Intron|COMMD6_ENST00000406936.3_Intron|COMMD6_ENST00000355801.4_Intron|COMMD6_ENST00000460675.1_Intron			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6						negative regulation of NF-kappaB transcription factor activity (GO:0032088)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		CATAAAGTATCTTCATTTTAA	0.289																																																	0																																										SO:0001627	intron_variant	170622			AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243			24015	protein-coding gene	gene with protein product		612377				15799966	Standard	NM_203497		Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377615.3:c.55-127G>C	13.37:g.76104529C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF28|B7ZLN0|Q5TBK4	RNA	SNP	-	NULL	ENST00000377615.3	37	NULL	CCDS9451.1	13																																																																																			COMMD6	-	-		0.289	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD6	HGNC	protein_coding	OTTHUMT00000045288.4	C	XM_085023		76104529	-1	no_errors	ENST00000486516	ensembl	human	known	70_37	rna	SNP	0.002	G
COPG1	22820	genome.wustl.edu	37	3	128990687	128990687	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:128990687G>A	ENST00000314797.6	+	19	2025	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	641	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										GGCCCTCACCGAGTCAGAGAC	0.592																																																	0													77.0	63.0	67.0					3																	128990687		2203	4300	6503	SO:0001583	missense	22820			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1921G>A	3.37:g.128990687G>A	ENSP00000325002:p.Glu641Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu	p.E641K	ENST00000314797.6	37	c.1921	CCDS33851.1	3	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115514	0.77323	.	.	ENSG00000181789	ENST00000314797	T	0.48836	0.8	5.68	5.68	0.88126	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Coatomer, gamma subunit , appendage (1);Coatomer, gamma subunit, appendage, Ig-like subdomain (1);	0.000000	0.64402	D	0.000002	T	0.58424	0.2121	M	0.92122	3.275	0.80722	D	1	B	0.33883	0.43	B	0.26517	0.07	T	0.67273	-0.5712	10	0.62326	D	0.03	-17.7237	17.2896	0.87152	0.0:0.0:1.0:0.0	.	641	Q9Y678	COPG_HUMAN	K	641	ENSP00000325002:E641K	ENSP00000325002:E641K	E	+	1	0	COPG	130473377	1.000000	0.71417	0.355000	0.25773	0.042000	0.13812	9.652000	0.98499	2.695000	0.91970	0.650000	0.86243	GAG	COPG1	-	pfam_Coatomer_gsu_app,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_Coatomer_gsu		0.592	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG1	HGNC	protein_coding	OTTHUMT00000355456.1	G	NM_016128		128990687	+1	no_errors	ENST00000314797	ensembl	human	known	70_37	missense	SNP	1.000	A
CORO2A	7464	genome.wustl.edu	37	9	100889065	100889065	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:100889065C>T	ENST00000343933.5	-	11	1469	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L	CORO2A_ENST00000375077.4_Silent_p.L404L	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	404					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGTGGGGTCTCAGCAGCTCAG	0.592																																																	0													82.0	86.0	85.0					9																	100889065		2203	4300	6503	SO:0001819	synonymous_variant	7464			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.1212G>A	9.37:g.100889065C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TBR5|Q92829|Q9BWS5	Silent	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L404	ENST00000343933.5	37	c.1212	CCDS6735.1	9																																																																																			CORO2A	-	NULL		0.592	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO2A	HGNC	protein_coding	OTTHUMT00000053357.1	C	NM_003389		100889065	-1	no_errors	ENST00000343933	ensembl	human	known	70_37	silent	SNP	0.003	T
CORO2A	7464	genome.wustl.edu	37	9	100890986	100890986	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:100890986C>G	ENST00000343933.5	-	9	1240	c.983G>C	c.(982-984)aGa>aCa	p.R328T	CORO2A_ENST00000375077.4_Missense_Mutation_p.R328T	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	328					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GTCGAGTCCTCTCTTTGGCAT	0.587																																																	0													91.0	81.0	84.0					9																	100890986		2203	4300	6503	SO:0001583	missense	7464			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.983G>C	9.37:g.100890986C>G	ENSP00000343746:p.Arg328Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R328T	ENST00000343933.5	37	c.983	CCDS6735.1	9	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191087	0.78902	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.31247	1.5;1.5	5.33	4.43	0.53597	Domain of unknown function DUF1900 (1);	0.044297	0.85682	D	0.000000	T	0.58119	0.2100	M	0.83118	2.625	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	T	0.64584	-0.6373	10	0.56958	D	0.05	-16.5396	14.6189	0.68569	0.1472:0.8528:0.0:0.0	.	328	Q92828	COR2A_HUMAN	T	328	ENSP00000343746:R328T;ENSP00000364218:R328T	ENSP00000343746:R328T	R	-	2	0	CORO2A	99930807	0.091000	0.21658	1.000000	0.80357	0.837000	0.47467	1.107000	0.31110	1.364000	0.46038	0.561000	0.74099	AGA	CORO2A	-	pfam_DUF1900		0.587	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO2A	HGNC	protein_coding	OTTHUMT00000053357.1	C	NM_003389		100890986	-1	no_errors	ENST00000343933	ensembl	human	known	70_37	missense	SNP	1.000	G
CORO2A	7464	genome.wustl.edu	37	9	100892173	100892173	+	Splice_Site	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:100892173C>G	ENST00000343933.5	-	8	1128		c.e8-1		CORO2A_ENST00000375077.4_Splice_Site	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A						actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGCCATCTCCCTgaggaggag	0.547																																																	0													94.0	75.0	82.0					9																	100892173		2203	4300	6503	SO:0001630	splice_region_variant	7464			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.871-1G>C	9.37:g.100892173C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TBR5|Q92829|Q9BWS5	Splice_Site	SNP	-	e7-1	ENST00000343933.5	37	c.871-1	CCDS6735.1	9	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438308	0.83885	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.032	0.86463	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CORO2A	99931994	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.228000	0.78079	2.561000	0.86390	0.561000	0.74099	.	CORO2A	-	-		0.547	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO2A	HGNC	protein_coding	OTTHUMT00000053357.1	C	NM_003389	Intron	100892173	-1	no_errors	ENST00000343933	ensembl	human	known	70_37	splice_site	SNP	1.000	G
TRUB2	26995	genome.wustl.edu	37	9	131085386	131085386	+	5'Flank	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:131085386C>T	ENST00000372890.4	-	0	0				TRUB2_ENST00000460320.1_5'Flank|COQ4_ENST00000609948.1_Silent_p.A54A|TRUB2_ENST00000546104.1_5'Flank|COQ4_ENST00000300452.3_Silent_p.A54A|COQ4_ENST00000608951.1_Silent_p.A54A|COQ4_ENST00000372875.3_Silent_p.A54A	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2						pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						TGTTGGCCGCCGGCTCCGCGG	0.721																																																	0																																										SO:0001631	upstream_gene_variant	51117			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741		9.37:g.131085386C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7G5	Silent	SNP	pfam_CoenzQ_biosynthesis_Coq4	p.A54	ENST00000372890.4	37	c.162	CCDS6897.1	9																																																																																			COQ4	-	pfam_CoenzQ_biosynthesis_Coq4		0.721	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ4	HGNC	protein_coding	OTTHUMT00000054419.1	C	NM_015679		131085386	+1	no_errors	ENST00000300452	ensembl	human	known	70_37	silent	SNP	0.097	T
CORO7	79585	genome.wustl.edu	37	16	4409516	4409516	+	Missense_Mutation	SNP	C	C	G	rs142159766		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:4409516C>G	ENST00000251166.4	-	22	2360	c.2215G>C	c.(2215-2217)Gac>Cac	p.D739H	CORO7_ENST00000537233.2_Missense_Mutation_p.D721H|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.D739H|CORO7_ENST00000574025.1_Missense_Mutation_p.D654H|CORO7_ENST00000539968.1_Missense_Mutation_p.D519H	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	739					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GTGTCTGGGTCGTAGCTGGGC	0.677											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													35.0	38.0	37.0					16																	4409516		2197	4298	6495	SO:0001583	missense	100529144			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2215G>C	16.37:g.4409516C>G	ENSP00000251166:p.Asp739His	Somatic	618	WXS	Illumina HiSeq	Phase_IV	B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D739H	ENST00000251166.4	37	c.2215	CCDS10513.1	16	.	.	.	.	.	.	.	.	.	.	C	13.41	2.227547	0.39399	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.57752	0.38;0.38	5.61	4.65	0.58169	WD40/YVTN repeat-like-containing domain (1);Domain of unknown function DUF1900 (1);	0.099699	0.64402	D	0.000002	T	0.81128	0.4758	H	0.95982	3.75	0.80722	D	1	B;B;B;D;B	0.89917	0.051;0.002;0.062;1.0;0.032	B;B;B;D;B	0.91635	0.099;0.01;0.274;0.999;0.081	D	0.87518	0.2444	10	0.72032	D	0.01	-18.3921	15.4988	0.75680	0.1399:0.8601:0.0:0.0	.	654;721;519;739;720	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	H	739;654;519	ENSP00000251166:D739H;ENSP00000446221:D519H	ENSP00000251166:D739H	D	-	1	0	CORO7	4349517	1.000000	0.71417	0.898000	0.35279	0.001000	0.01503	5.284000	0.65627	1.357000	0.45904	-0.181000	0.13052	GAC	CORO7-PAM16	-	pfam_DUF1900		0.677	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	C	NM_024535		4409516	-1	no_errors	ENST00000572467	ensembl	human	known	70_37	missense	SNP	1.000	G
COX4I1	1327	genome.wustl.edu	37	16	85834864	85834864	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:85834864C>G	ENST00000562336.1	+	2	246	c.53C>G	c.(52-54)tCt>tGt	p.S18C	COX4I1_ENST00000568794.1_Missense_Mutation_p.S18C|EMC8_ENST00000435200.2_5'Flank|COX4I1_ENST00000561569.1_Missense_Mutation_p.S18C|COX4I1_ENST00000253452.2_Missense_Mutation_p.S18C|COX4I1_ENST00000570123.1_3'UTR|COX4I1_ENST00000564903.1_Missense_Mutation_p.S18C|EMC8_ENST00000253457.3_5'Flank			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	18					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				ATTTCCACCTCTGTGTGTGTA	0.408																																																	0													211.0	202.0	205.0					16																	85834864		2198	4300	6498	SO:0001583	missense	1327			AF005889	CCDS10955.1	16q24.1	2012-10-02	2001-11-30	2001-12-07	ENSG00000131143	ENSG00000131143	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2265	protein-coding gene	gene with protein product		123864	"""cytochrome c oxidase subunit IV"""	COX4		2444497, 2157630	Standard	NM_001861		Approved	COX4-1	uc002fje.3	P13073	OTTHUMG00000137649	ENST00000562336.1:c.53C>G	16.37:g.85834864C>G	ENSP00000457513:p.Ser18Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4J2|D3DUM7|Q6P666	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4	p.S18C	ENST00000562336.1	37	c.53	CCDS10955.1	16	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042376	0.75732	.	.	ENSG00000131143	ENST00000253452	T	0.52526	0.66	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.77867	-0.2428	10	0.66056	D	0.02	-20.789	19.1187	0.93353	0.0:1.0:0.0:0.0	.	18;18	Q86WV2;P13073	.;COX41_HUMAN	C	18	ENSP00000253452:S18C	ENSP00000253452:S18C	S	+	2	0	COX4I1	84392365	1.000000	0.71417	0.936000	0.37596	0.593000	0.36681	7.183000	0.77697	2.501000	0.84356	0.650000	0.86243	TCT	COX4I1	-	NULL		0.408	COX4I1-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	COX4I1	HGNC	protein_coding	OTTHUMT00000430873.1	C	NM_001861		85834864	+1	no_errors	ENST00000253452	ensembl	human	known	70_37	missense	SNP	1.000	G
COX5A	9377	genome.wustl.edu	37	15	75212768	75212768	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:75212768C>T	ENST00000322347.6	-	0	631				COX5A_ENST00000562233.1_Missense_Mutation_p.G78E|COX5A_ENST00000568783.1_Missense_Mutation_p.D119N|COX5A_ENST00000567270.1_3'UTR|COX5A_ENST00000568517.1_3'UTR	NM_004255.3	NP_004246.2	P20674	COX5A_HUMAN	cytochrome c oxidase subunit Va						cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|pancreas(1)	3						GTCAATAAATCCTTGGGGAAG	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	9377			M22760	CCDS10273.1	15q25	2011-07-04			ENSG00000178741	ENSG00000178741	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2267	protein-coding gene	gene with protein product		603773				10072584, 2853101	Standard	NM_004255		Approved		uc002azi.4	P20674	OTTHUMG00000142825	ENST00000322347.6:c.*25G>A	15.37:g.75212768C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P30045|Q8TB65	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su5A/6,superfamily_Cyt_c_oxidase_su5A/6	p.D119N	ENST00000322347.6	37	c.355	CCDS10273.1	15																																																																																			COX5A	-	NULL		0.338	COX5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX5A	HGNC	protein_coding	OTTHUMT00000286417.1	C	NM_004255		75212768	-1	no_errors	ENST00000568783	ensembl	human	putative	70_37	missense	SNP	0.009	T
COX7B	1349	genome.wustl.edu	37	X	77158374	77158374	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:77158374G>C	ENST00000481445.1	+	2	281				COX7B_ENST00000475465.1_3'UTR	NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb						cellular metabolic process (GO:0044237)|central nervous system development (GO:0007417)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)	2						agggacttgagagattgtgta	0.353																																																	0																																										SO:0001627	intron_variant	1349			Z14244	CCDS14437.1	Xq21.1	2011-07-04			ENSG00000131174	ENSG00000131174		"""Mitochondrial respiratory chain complex / Complex IV"""	2291	protein-coding gene	gene with protein product		300885				8382530	Standard	NM_001866		Approved		uc004ecu.1	P24311	OTTHUMG00000022718	ENST00000481445.1:c.165+110G>C	X.37:g.77158374G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4M3|Q6ICR1	RNA	SNP	-	NULL	ENST00000481445.1	37	NULL	CCDS14437.1	X																																																																																			COX7B	-	-		0.353	COX7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX7B	HGNC	protein_coding	OTTHUMT00000058970.1	G	NM_001866		77158374	+1	no_errors	ENST00000475465	ensembl	human	known	70_37	rna	SNP	0.001	C
CPA5	93979	genome.wustl.edu	37	7	129987668	129987668	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:129987668G>C	ENST00000485477.1	+	3	1307	c.178G>C	c.(178-180)Gag>Cag	p.E60Q	CPA5_ENST00000466363.2_Missense_Mutation_p.E60Q|CPA5_ENST00000461828.1_Missense_Mutation_p.E60Q|CPA5_ENST00000393213.3_Missense_Mutation_p.E60Q|CPA5_ENST00000431780.2_Missense_Mutation_p.E60Q|CPA5_ENST00000474905.1_Missense_Mutation_p.E60Q|CPA5_ENST00000355388.3_Missense_Mutation_p.E60Q			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	60						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CGGGGATCTGGAGGGCCTGAA	0.582																																																	0													62.0	60.0	61.0					7																	129987668		2203	4300	6503	SO:0001583	missense	93979			AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.178G>C	7.37:g.129987668G>C	ENSP00000420237:p.Glu60Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.E60Q	ENST00000485477.1	37	c.178	CCDS5819.1	7	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835470	0.50951	.	.	ENSG00000158525	ENST00000355388;ENST00000463587;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.63	4.74	0.60224	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.220883	0.32055	N	0.006643	T	0.16599	0.0399	L	0.59436	1.845	0.34260	D	0.679751	B;B	0.32409	0.32;0.37	B;B	0.29176	0.06;0.099	T	0.13388	-1.0511	9	.	.	.	.	10.8558	0.46798	0.0882:0.0:0.9118:0.0	.	60;60	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	Q	60	ENSP00000347549:E60Q;ENSP00000420060:E60Q;ENSP00000418183:E60Q;ENSP00000419025:E60Q;ENSP00000420237:E60Q;ENSP00000393045:E60Q;ENSP00000417314:E60Q;ENSP00000376907:E60Q	.	E	+	1	0	CPA5	129774904	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.154000	0.58125	2.652000	0.90054	0.655000	0.94253	GAG	CPA5	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept		0.582	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA5	HGNC	protein_coding	OTTHUMT00000349712.1	G	NM_001127441		129987668	+1	no_errors	ENST00000355388	ensembl	human	known	70_37	missense	SNP	0.997	C
CPLX1	10815	genome.wustl.edu	37	4	786358	786358	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:786358C>G	ENST00000304062.6	-	3	301	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	CPLX1_ENST00000505203.1_Missense_Mutation_p.E24Q	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	24					exocytosis (GO:0006887)|glutamate secretion (GO:0014047)|insulin secretion (GO:0030073)|neurotransmitter secretion (GO:0007269)|regulation of exocytosis (GO:0017157)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)	neurotransmitter transporter activity (GO:0005326)			kidney(1)|lung(2)	3				Colorectal(103;0.187)		TCCTTCTCCTCGTCACCCCCC	0.642																																																	0													66.0	71.0	69.0					4																	786358		2202	4297	6499	SO:0001583	missense	10815			AF022383	CCDS46995.1	4p16.3	2008-08-07			ENSG00000168993	ENSG00000168993			2309	protein-coding gene	gene with protein product		605032				7553862	Standard	NM_006651		Approved	CPX-I	uc003gbi.3	O14810	OTTHUMG00000160005	ENST00000304062.6:c.70G>C	4.37:g.786358C>G	ENSP00000305613:p.Glu24Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NI80|B2R4R5|D3DVN3|F1T0G1	Missense_Mutation	SNP	pfam_Synaphin	p.E24Q	ENST00000304062.6	37	c.70	CCDS46995.1	4	.	.	.	.	.	.	.	.	.	.	c	20.6	4.022828	0.75275	.	.	ENSG00000168993	ENST00000304062;ENST00000505203;ENST00000504062;ENST00000513195	.	.	.	3.57	3.57	0.40892	.	.	.	.	.	T	0.79161	0.4399	M	0.85945	2.785	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.77557	0.99;0.99	T	0.81448	-0.0928	8	0.48119	T	0.1	.	13.0899	0.59162	0.0:1.0:0.0:0.0	.	24;24	D6RI11;O14810	.;CPLX1_HUMAN	Q	24;24;9;107	.	ENSP00000305613:E24Q	E	-	1	0	CPLX1	776358	1.000000	0.71417	0.990000	0.47175	0.758000	0.43043	5.306000	0.65756	2.009000	0.58944	0.537000	0.68136	GAG	CPLX1	-	pfam_Synaphin		0.642	CPLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPLX1	HGNC	protein_coding	OTTHUMT00000358830.1	C			786358	-1	no_errors	ENST00000304062	ensembl	human	known	70_37	missense	SNP	1.000	G
CPNE4	131034	genome.wustl.edu	37	3	131253882	131253883	+	3'UTR	INS	-	-	A	rs397761002|rs5852629	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:131253882_131253883insA	ENST00000512055.1	-	0	3956_3957				CPNE4_ENST00000429747.1_3'UTR|CPNE4_ENST00000511604.1_3'UTR|CPNE4_ENST00000503204.1_5'UTR|CPNE4_ENST00000512332.1_3'UTR|CPNE4_ENST00000502818.1_3'UTR			Q96A23	CPNE4_HUMAN	copine IV							extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GCTACACATGCAAAAAAAATTG	0.307													AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	1293	0.258187	0.0741	0.4294	5008	,	,		17836	0.4544		0.1859	False		,,,				2504	0.2577																0																																										SO:0001624	3_prime_UTR_variant	131034			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.*157->T	3.37:g.131253890_131253890dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNC5|Q8TEX1	RNA	INS	-	NULL	ENST00000512055.1	37	NULL	CCDS3072.1	3																																																																																			CPNE4	-	-		0.307	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	HGNC	protein_coding	OTTHUMT00000356583.4	-	NM_130808		131253883	-1	no_errors	ENST00000503204	ensembl	human	known	70_37	rna	INS	1.000:1.000	A
CPSF1	29894	genome.wustl.edu	37	8	145623321	145623321	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:145623321C>G	ENST00000349769.3	-	20	2015	c.1921G>C	c.(1921-1923)Gac>Cac	p.D641H	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	641					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCGCCCAGGTCCACGGGGATG	0.642																																					NSCLC(133;1088 1848 27708 34777 35269)												0													29.0	29.0	29.0					8																	145623321		2203	4297	6500	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1921G>C	8.37:g.145623321C>G	ENSP00000339353:p.Asp641His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.D641H	ENST00000349769.3	37	c.1921	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688543	0.68271	.	.	ENSG00000071894	ENST00000349769	T	0.34275	1.37	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.59211	0.2177	M	0.71206	2.165	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.61983	-0.6950	10	0.72032	D	0.01	-15.0484	14.7099	0.69222	0.0:1.0:0.0:0.0	.	641	Q10570	CPSF1_HUMAN	H	641	ENSP00000339353:D641H	ENSP00000339353:D641H	D	-	1	0	CPSF1	145594129	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	4.976000	0.63785	2.541000	0.85698	0.491000	0.48974	GAC	CPSF1	-	NULL		0.642	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	C	NM_013291		145623321	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	1.000	G
CPSF1	29894	genome.wustl.edu	37	8	145624235	145624235	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:145624235C>G	ENST00000349769.3	-	17	1666	c.1572G>C	c.(1570-1572)gtG>gtC	p.V524V	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	524					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAAAGGTTGTCACCACCTGGG	0.647																																					NSCLC(133;1088 1848 27708 34777 35269)												0													88.0	95.0	93.0					8																	145624235		2203	4300	6503	SO:0001819	synonymous_variant	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1572G>C	8.37:g.145624235C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AF0	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.V524	ENST00000349769.3	37	c.1572	CCDS34966.1	8																																																																																			CPSF1	-	NULL		0.647	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	C	NM_013291		145624235	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	silent	SNP	1.000	G
CPSF1	29894	genome.wustl.edu	37	8	145624241	145624241	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:145624241C>T	ENST00000349769.3	-	17	1660	c.1566G>A	c.(1564-1566)caG>caA	p.Q522Q	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	522					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TTGTCACCACCTGGGGCCGGA	0.652																																					NSCLC(133;1088 1848 27708 34777 35269)												0													83.0	90.0	87.0					8																	145624241		2203	4300	6503	SO:0001819	synonymous_variant	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1566G>A	8.37:g.145624241C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AF0	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.Q522	ENST00000349769.3	37	c.1566	CCDS34966.1	8																																																																																			CPSF1	-	NULL		0.652	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	C	NM_013291		145624241	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	silent	SNP	1.000	T
CPT1B	1375	genome.wustl.edu	37	22	51009456	51009456	+	Missense_Mutation	SNP	T	T	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:51009456T>C	ENST00000360719.2	-	16	2029	c.1892A>G	c.(1891-1893)gAt>gGt	p.D631G	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.D597G|CPT1B_ENST00000434492.2_Missense_Mutation_p.D426G|CPT1B_ENST00000440709.1_Missense_Mutation_p.D550G|CPT1B_ENST00000312108.7_Missense_Mutation_p.D631G|CPT1B_ENST00000395650.2_Missense_Mutation_p.D631G|CPT1B_ENST00000405237.3_Missense_Mutation_p.D631G	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	631					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CTGGAAGAGATCTCGCAGGTC	0.597																																					Esophageal Squamous(170;988 1933 25577 30295 48163)												0													144.0	150.0	148.0					22																	51009456		2203	4300	6503	SO:0001583	missense	1375			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1892A>G	22.37:g.51009456T>C	ENSP00000353945:p.Asp631Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.D631G	ENST00000360719.2	37	c.1892	CCDS14098.1	22	.	.	.	.	.	.	.	.	.	.	T	7.362	0.625129	0.14257	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	5.74	2.4	0.29515	.	0.342627	0.32687	N	0.005772	T	0.79209	0.4407	L	0.31804	0.96	0.18873	N	0.999982	B;B;B;B	0.19935	0.019;0.0;0.0;0.04	B;B;B;B	0.29440	0.024;0.003;0.005;0.102	T	0.64715	-0.6342	10	0.36615	T	0.2	-3.1821	1.4551	0.02383	0.1414:0.1572:0.1469:0.5544	.	550;597;426;631	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	G	631;631;631;597;550;426;631	ENSP00000385486:D631G;ENSP00000312189:D631G;ENSP00000353945:D631G;ENSP00000409342:D597G;ENSP00000414713:D550G;ENSP00000410966:D426G;ENSP00000379011:D631G	ENSP00000312189:D631G	D	-	2	0	CPT1B	49356322	0.000000	0.05858	0.004000	0.12327	0.663000	0.39108	-1.003000	0.03682	0.087000	0.17167	0.533000	0.62120	GAT	CPT1B	-	pfam_Carn_acyl_trans		0.597	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	T	NM_152246		51009456	-1	no_errors	ENST00000312108	ensembl	human	known	70_37	missense	SNP	0.257	C
CPT2	1376	genome.wustl.edu	37	1	53675983	53675983	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:53675983G>C	ENST00000371486.3	+	4	1152	c.637G>C	c.(637-639)Gat>Cat	p.D213H	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	213			D -> G (in CPT2D). {ECO:0000269|PubMed:15622536}.		carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	GTATCCCCTGGATATGTCCCA	0.502																																																	0													110.0	104.0	106.0					1																	53675983		2203	4300	6503	SO:0001583	missense	1376			BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.637G>C	1.37:g.53675983G>C	ENSP00000360541:p.Asp213His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.D213H	ENST00000371486.3	37	c.637	CCDS575.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410685	0.83340	.	.	ENSG00000157184	ENST00000371486	D	0.90444	-2.67	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.96892	0.8985	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97354	0.9965	10	0.59425	D	0.04	-21.8104	19.4198	0.94716	0.0:0.0:1.0:0.0	.	213	P23786	CPT2_HUMAN	H	213	ENSP00000360541:D213H	ENSP00000360541:D213H	D	+	1	0	CPT2	53448571	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.476000	0.97823	2.576000	0.86940	0.650000	0.86243	GAT	CPT2	-	pfam_Carn_acyl_trans		0.502	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT2	HGNC	protein_coding	OTTHUMT00000024757.1	G	NM_000098		53675983	+1	no_errors	ENST00000371486	ensembl	human	known	70_37	missense	SNP	1.000	C
CPXM1	56265	genome.wustl.edu	37	20	2777278	2777278	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:2777278C>G	ENST00000380605.2	-	8	1004	c.940G>C	c.(940-942)Gag>Cag	p.E314Q		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	314					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGGCATTGCTCTTGTACCTGC	0.547																																																	0													173.0	157.0	163.0					20																	2777278		2203	4300	6503	SO:0001583	missense	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.940G>C	20.37:g.2777278C>G	ENSP00000369979:p.Glu314Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.E314Q	ENST00000380605.2	37	c.940	CCDS13033.1	20	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758414	0.31137	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.10573	2.86	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (1);	0.097074	0.64402	D	0.000001	T	0.12646	0.0307	L	0.33485	1.01	0.48901	D	0.999727	P;B	0.42871	0.792;0.31	B;B	0.43194	0.411;0.108	T	0.01729	-1.1286	10	0.44086	T	0.13	-27.0231	16.7686	0.85531	0.0:1.0:0.0:0.0	.	314;314	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	Q	314;10	ENSP00000369979:E314Q	ENSP00000369979:E314Q	E	-	1	0	CPXM1	2725278	0.978000	0.34361	0.975000	0.42487	0.521000	0.34408	2.537000	0.45702	2.825000	0.97269	0.655000	0.94253	GAG	CPXM1	-	pfam_Peptidase_M14		0.547	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM1	HGNC	protein_coding	OTTHUMT00000077643.2	C	NM_019609		2777278	-1	no_errors	ENST00000380605	ensembl	human	known	70_37	missense	SNP	0.997	G
CRCP	27297	genome.wustl.edu	37	7	65617276	65617276	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:65617276G>C	ENST00000395326.3	+	6	737	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	CRCP_ENST00000431089.2_Missense_Mutation_p.E120Q|CRCP_ENST00000338592.5_Missense_Mutation_p.E94Q|CRCP_ENST00000415001.2_Missense_Mutation_p.E94Q|CRCP_ENST00000398684.2_Missense_Mutation_p.E50Q|CRCP_ENST00000492264.1_3'UTR|RP5-1132H15.1_ENST00000435524.2_RNA	NM_014478.4	NP_055293.1	O75575	RPC9_HUMAN	CGRP receptor component	127					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|neuropeptide signaling pathway (GO:0007218)|transcription from RNA polymerase III promoter (GO:0006383)	acrosomal vesicle (GO:0001669)|DNA polymerase III complex (GO:0009360)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcitonin gene-related polypeptide receptor activity (GO:0001635)|DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)			cervix(1)|kidney(1)|lung(4)	6						TCTGCCTGCAGAGCCAGAGGC	0.527																																																	0													79.0	69.0	72.0					7																	65617276		2203	4300	6503	SO:0001583	missense	27297			AF073792	CCDS5532.1, CCDS47599.1, CCDS47600.1, CCDS55116.1	7q11.1	2009-01-14			ENSG00000241258	ENSG00000241258			17888	protein-coding gene	gene with protein product	"""calcitonin gene-related peptide-receptor component protein"""	606121				8622957, 10067875, 12482973	Standard	NM_014478		Approved	CGRP-RCP, RCP, RCP9	uc011kdw.2	O75575	OTTHUMG00000129519	ENST00000395326.3:c.379G>C	7.37:g.65617276G>C	ENSP00000378736:p.Glu127Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUZ4|A8MW23|B2R4H4|B4E198|Q3KRA3|Q5HYF1|Q8IXL4	Missense_Mutation	SNP	pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core	p.E127Q	ENST00000395326.3	37	c.379	CCDS5532.1	7	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995926	0.35226	.	.	ENSG00000241258	ENST00000395326;ENST00000431089;ENST00000398684;ENST00000338592;ENST00000415001	.	.	.	5.27	5.27	0.74061	HRDC-like (1);RNA polymerase II, Rpb4, core (1);	0.346769	0.32769	N	0.005667	T	0.21590	0.0520	N	0.22421	0.69	0.09310	N	1	P;B;B;B	0.44006	0.824;0.052;0.209;0.079	B;B;B;B	0.32624	0.124;0.028;0.149;0.058	T	0.19811	-1.0294	8	.	.	.	-4.6061	14.2716	0.66155	0.0:0.0:1.0:0.0	.	120;50;94;127	B4E198;A8MUZ4;O75575-2;O75575	.;.;.;RPC9_HUMAN	Q	127;120;50;94;94	.	.	E	+	1	0	CRCP	65254711	1.000000	0.71417	0.116000	0.21606	0.905000	0.53344	4.588000	0.60999	2.752000	0.94435	0.655000	0.94253	GAG	CRCP	-	superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core		0.527	CRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRCP	HGNC	protein_coding	OTTHUMT00000251697.2	G	NM_014478		65617276	+1	no_errors	ENST00000395326	ensembl	human	known	70_37	missense	SNP	0.249	C
CREB5	9586	genome.wustl.edu	37	7	28844035	28844035	+	Nonsense_Mutation	SNP	C	C	T	rs559296613	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:28844035C>T	ENST00000357727.2	+	8	1312	c.922C>T	c.(922-924)Cag>Tag	p.Q308*	CREB5_ENST00000396300.2_Nonsense_Mutation_p.Q301*|CREB5_ENST00000396299.2_Nonsense_Mutation_p.Q275*|CREB5_ENST00000409603.1_Nonsense_Mutation_p.Q275*|CREB5_ENST00000396298.2_Nonsense_Mutation_p.Q169*	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	308					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						accccatcaccagcagaacca	0.617																																																	0													588.0	336.0	421.0					7																	28844035		2203	4300	6503	SO:0001587	stop_gained	9586			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.922C>T	7.37:g.28844035C>T	ENSP00000350359:p.Gln308*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Nonsense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.Q308*	ENST00000357727.2	37	c.922	CCDS5417.1	7	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021702	0.93462	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000426500;ENST00000396298	.	.	.	5.51	5.51	0.81932	.	0.358324	0.32703	N	0.005753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9746	19.0859	0.93202	0.0:1.0:0.0:0.0	.	.	.	.	X	275;308;301;275;134;169	.	ENSP00000350359:Q308X	Q	+	1	0	CREB5	28810560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.698000	0.68302	2.623000	0.88846	0.579000	0.79373	CAG	CREB5	-	pirsf_TF_cAMP-dep		0.617	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4	C	NM_004904		28844035	+1	no_errors	ENST00000357727	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CRCP	27297	genome.wustl.edu	37	7	65617299	65617299	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:65617299G>C	ENST00000395326.3	+	6	760	c.402G>C	c.(400-402)aaG>aaC	p.K134N	CRCP_ENST00000431089.2_Missense_Mutation_p.K127N|CRCP_ENST00000338592.5_Missense_Mutation_p.K101N|CRCP_ENST00000415001.2_Missense_Mutation_p.K101N|CRCP_ENST00000398684.2_Missense_Mutation_p.K57N|CRCP_ENST00000492264.1_3'UTR|RP5-1132H15.1_ENST00000435524.2_RNA	NM_014478.4	NP_055293.1	O75575	RPC9_HUMAN	CGRP receptor component	134					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|neuropeptide signaling pathway (GO:0007218)|transcription from RNA polymerase III promoter (GO:0006383)	acrosomal vesicle (GO:0001669)|DNA polymerase III complex (GO:0009360)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcitonin gene-related polypeptide receptor activity (GO:0001635)|DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)			cervix(1)|kidney(1)|lung(4)	6						AGCAGAAGAAGAATACAAACA	0.547																																																	0													80.0	68.0	72.0					7																	65617299		2203	4300	6503	SO:0001583	missense	27297			AF073792	CCDS5532.1, CCDS47599.1, CCDS47600.1, CCDS55116.1	7q11.1	2009-01-14			ENSG00000241258	ENSG00000241258			17888	protein-coding gene	gene with protein product	"""calcitonin gene-related peptide-receptor component protein"""	606121				8622957, 10067875, 12482973	Standard	NM_014478		Approved	CGRP-RCP, RCP, RCP9	uc011kdw.2	O75575	OTTHUMG00000129519	ENST00000395326.3:c.402G>C	7.37:g.65617299G>C	ENSP00000378736:p.Lys134Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUZ4|A8MW23|B2R4H4|B4E198|Q3KRA3|Q5HYF1|Q8IXL4	Missense_Mutation	SNP	pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core	p.K134N	ENST00000395326.3	37	c.402	CCDS5532.1	7	.	.	.	.	.	.	.	.	.	.	G	8.497	0.863325	0.17250	.	.	ENSG00000241258	ENST00000395326;ENST00000431089;ENST00000398684;ENST00000338592;ENST00000415001	.	.	.	4.4	-8.8	0.00817	.	0.672212	0.15455	N	0.261423	T	0.17874	0.0429	L	0.36672	1.1	0.09310	N	1	P;B;B;B	0.34462	0.454;0.0;0.145;0.004	B;B;B;B	0.27380	0.079;0.0;0.033;0.008	T	0.02617	-1.1133	8	.	.	.	-1.0585	10.238	0.43294	0.1366:0.381:0.4825:0.0	.	127;57;101;134	B4E198;A8MUZ4;O75575-2;O75575	.;.;.;RPC9_HUMAN	N	134;127;57;101;101	.	.	K	+	3	2	CRCP	65254734	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.644000	0.05415	-1.996000	0.00970	-1.078000	0.02229	AAG	CRCP	-	NULL		0.547	CRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRCP	HGNC	protein_coding	OTTHUMT00000251697.2	G	NM_014478		65617299	+1	no_errors	ENST00000395326	ensembl	human	known	70_37	missense	SNP	0.000	C
CREBZF	58487	genome.wustl.edu	37	11	85371510	85371510	+	IGR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:85371510G>C	ENST00000527447.1	-	0	4037				CREBZF_ENST00000534224.1_3'UTR|CREBZF_ENST00000531515.1_5'UTR|CREBZF_ENST00000398294.2_3'UTR	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor						negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TTGGGAACTTGAAAATGGCAT	0.353																																					NSCLC(172;674 2044 9050 18334 41735)												0																																										SO:0001628	intergenic_variant	58487			AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648		11.37:g.85371510G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8Q9|Q0P5U9|Q52LT3	RNA	SNP	-	NULL	ENST00000527447.1	37	NULL	CCDS41697.1	11																																																																																			CREBZF	-	-		0.353	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBZF	HGNC	protein_coding	OTTHUMT00000390191.2	G	NM_001039618		85371510	-1	no_errors	ENST00000531515	ensembl	human	known	70_37	rna	SNP	1.000	C
CREM	1390	genome.wustl.edu	37	10	35500776	35500776	+	3'UTR	SNP	G	G	A	rs371726841		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:35500776G>A	ENST00000395895.2	+	0	1293				CREM_ENST00000468236.1_3'UTR|CREM_ENST00000460270.1_3'UTR|CREM_ENST00000333809.8_3'UTR|CREM_ENST00000463314.1_3'UTR|CREM_ENST00000490511.1_3'UTR|CREM_ENST00000348787.2_3'UTR|CREM_ENST00000361599.4_3'UTR|CREM_ENST00000345491.3_3'UTR|CREM_ENST00000356917.5_3'UTR|CREM_ENST00000354759.3_3'UTR|RP11-324I22.3_ENST00000602435.1_RNA|CREM_ENST00000342105.3_3'UTR|CREM_ENST00000374728.3_3'UTR|CREM_ENST00000488328.1_3'UTR|CREM_ENST00000429130.3_3'UTR|CREM_ENST00000439705.1_3'UTR|CREM_ENST00000374721.3_3'UTR|CREM_ENST00000474362.1_3'UTR|CREM_ENST00000473940.1_3'UTR|CREM_ENST00000344351.5_3'UTR			Q03060	CREM_HUMAN	cAMP responsive element modulator						cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						AGTTGCTTTTGAAGGAATACA	0.323																																																	0								G	,,,,,,,,,,,,,,,,,,,	0,4358		0,0,2179	30.0	34.0	33.0		,,,,,,,,,,,,,,,,,,,	5.0	1.0	10		33	2,8578		0,2,4288	no	utr-3,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3	CREM	NM_181571.1,NM_182717.1,NM_182718.1,NM_182719.1,NM_182720.1,NM_182721.1,NM_182722.1,NM_182723.1,NM_182724.1,NM_182725.1,NM_182769.1,NM_182770.1,NM_182771.1,NM_182772.1,NM_182850.1,NM_182853.1,NM_183011.1,NM_183012.1,NM_183013.1,NM_183060.1	,,,,,,,,,,,,,,,,,,,	0,2,6467	AA,AG,GG		0.0233,0.0,0.0155	,,,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,,,,,,	35500776	2,12936	2179	4290	6469	SO:0001624	3_prime_UTR_variant	1390				CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"""basic leucine zipper proteins"""	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.*45G>A	10.37:g.35500776G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	RNA	SNP	-	NULL	ENST00000395895.2	37	NULL		10																																																																																			CREM	-	-		0.323	CREM-203	KNOWN	basic|appris_principal	protein_coding	CREM	HGNC	protein_coding		G	NM_001881		35500776	+1	no_errors	ENST00000469517	ensembl	human	known	70_37	rna	SNP	0.999	A
CRHR1	1394	genome.wustl.edu	37	17	43713654	43713654	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:43713654C>T	ENST00000293493.7	+	2	396				CRHR1-IT1_ENST00000455565.1_RNA|CRHR1_ENST00000339069.5_Intron|RP11-105N13.4_ENST00000587305.1_RNA	NM_001256299.1	NP_001243228.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1						activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TCAAGGATCTCCCTAATACTA	0.458																																					Ovarian(110;57 1568 10207 38216 49865)												0																																										SO:0001627	intron_variant	147081			L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000293493.7:c.-493+6130C>T	17.37:g.43713654C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIE9|Q13008|Q4QRJ1|Q9UK64	RNA	SNP	-	NULL	ENST00000293493.7	37	NULL	CCDS58556.1	17																																																																																			CRHR1-IT1	-	-		0.458	CRHR1-201	KNOWN	basic|CCDS	protein_coding	CRHR1-IT1	HGNC	protein_coding		C			43713654	+1	no_errors	ENST00000455565	ensembl	human	known	70_37	rna	SNP	0.991	T
CROCC	9696	genome.wustl.edu	37	1	17275495	17275495	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:17275495C>T	ENST00000375541.5	+	19	2905				CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TCTGGGGTCTCACAGAAGTTG	0.612																																																	0																																										SO:0001627	intron_variant	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2836+74C>T	1.37:g.17275495C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000375541.5	37	NULL	CCDS30616.1	1																																																																																			CROCC	-	-		0.612	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	C	NM_014675		17275495	+1	no_errors	ENST00000488646	ensembl	human	known	70_37	rna	SNP	0.000	T
CSDE1	7812	genome.wustl.edu	37	1	115292556	115292556	+	De_novo_Start_InFrame	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:115292556G>C	ENST00000358528.4	-	0	312				CSDE1_ENST00000534699.1_Intron|CSDE1_ENST00000369530.1_De_novo_Start_InFrame|CSDE1_ENST00000339438.6_De_novo_Start_InFrame|CSDE1_ENST00000438362.2_De_novo_Start_InFrame|CSDE1_ENST00000530886.1_De_novo_Start_OutOfFrame|CSDE1_ENST00000261443.5_Intron	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding						male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGAGAAAATGATCTACCAAG	0.383																																																	0																																												7812				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060		1.37:g.115292556G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	RNA	SNP	-	NULL	ENST00000358528.4	37	NULL	CCDS30812.1	1																																																																																			CSDE1	-	-		0.383	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CSDE1	HGNC	protein_coding	OTTHUMT00000033397.1	G	NM_007158		115292556	-1	no_errors	ENST00000524652	ensembl	human	known	70_37	rna	SNP	1.000	C
CSMD3	114788	genome.wustl.edu	37	8	113349922	113349922	+	Silent	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:113349922G>T	ENST00000297405.5	-	43	6935	c.6691C>A	c.(6691-6693)Cga>Aga	p.R2231R	CSMD3_ENST00000455883.2_Silent_p.R2127R|CSMD3_ENST00000352409.3_Silent_p.R2161R|CSMD3_ENST00000343508.3_Silent_p.R2191R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2231	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2231*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAACCATTTCGAAACGGGCGT	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							1	Substitution - Nonsense(1)	large_intestine(1)											92.0	94.0	93.0					8																	113349922		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6691C>A	8.37:g.113349922G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PZ3	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R2231	ENST00000297405.5	37	c.6691	CCDS6315.1	8																																																																																			CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		113349922	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	silent	SNP	1.000	T
CSNK1D	1453	genome.wustl.edu	37	17	80206854	80206854	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:80206854C>G	ENST00000314028.6	-	8	1443	c.1094G>C	c.(1093-1095)aGa>aCa	p.R365T	CSNK1D_ENST00000578904.1_5'Flank|CSNK1D_ENST00000392334.2_Missense_Mutation_p.R365T|CSNK1D_ENST00000398519.5_Missense_Mutation_p.R365T	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	365					circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			TTTCCGCTCTCTCTCCATGCC	0.647																																																	0													39.0	35.0	36.0					17																	80206854		2197	4289	6486	SO:0001583	missense	1453				CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.1094G>C	17.37:g.80206854C>G	ENSP00000324464:p.Arg365Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2I2P2|Q96KZ6|Q9BTN5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R365T	ENST00000314028.6	37	c.1094	CCDS11805.1	17	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426176	0.43020	.	.	ENSG00000141551	ENST00000314028;ENST00000392334;ENST00000398519;ENST00000269361	T;T;T	0.56275	0.47;0.47;0.59	5.8	5.8	0.92144	.	0.058843	0.64402	D	0.000003	T	0.55689	0.1936	M	0.61703	1.905	0.44409	D	0.997324	B;B;B	0.28400	0.06;0.21;0.134	B;B;B	0.29942	0.03;0.109;0.103	T	0.54944	-0.8217	10	0.56958	D	0.05	.	19.1064	0.93296	0.0:1.0:0.0:0.0	.	365;365;308	P48730;P48730-2;B4E0G1	KC1D_HUMAN;.;.	T	365;365;308;257	ENSP00000324464:R365T;ENSP00000376146:R365T;ENSP00000381531:R308T	ENSP00000269361:R257T	R	-	2	0	CSNK1D	77800143	0.219000	0.23619	0.998000	0.56505	0.929000	0.56500	3.492000	0.53259	2.775000	0.95449	0.650000	0.86243	AGA	CSNK1D	-	NULL		0.647	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSNK1D	HGNC	protein_coding	OTTHUMT00000442632.1	C	NM_139062		80206854	-1	no_errors	ENST00000314028	ensembl	human	known	70_37	missense	SNP	0.999	G
CSPG4	1464	genome.wustl.edu	37	15	75982032	75982032	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:75982032C>T	ENST00000308508.5	-	3	1466	c.1374G>A	c.(1372-1374)ctG>ctA	p.L458L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	458	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGCCTCCATCAGGTCCAGCG	0.647																																																	0													57.0	56.0	56.0					15																	75982032		2197	4290	6487	SO:0001819	synonymous_variant	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1374G>A	15.37:g.75982032C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DW77|Q92675	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.L458	ENST00000308508.5	37	c.1374	CCDS10284.1	15																																																																																			CSPG4	-	NULL		0.647	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	C	NM_001897		75982032	-1	no_errors	ENST00000308508	ensembl	human	known	70_37	silent	SNP	0.605	T
CST1	1469	genome.wustl.edu	37	20	23731323	23731323	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:23731323C>G	ENST00000304749.2	-	1	251	c.181G>C	c.(181-183)Gat>Cat	p.D61H	CST1_ENST00000398402.1_Missense_Mutation_p.D61H	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	61					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TAGTAGTCATCTTTGGTGGCC	0.567																																																	0													163.0	133.0	143.0					20																	23731323		2203	4300	6503	SO:0001583	missense	1469			M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.181G>C	20.37:g.23731323C>G	ENSP00000305731:p.Asp61His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96LE6|Q9UCQ6	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.D61H	ENST00000304749.2	37	c.181	CCDS13160.1	20	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688384	0.29962	.	.	ENSG00000170373	ENST00000304749;ENST00000398402	T;T	0.29917	1.55;1.55	1.61	1.61	0.23674	Proteinase inhibitor I25, cystatin (2);	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	M	0.91561	3.22	0.09310	N	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.44498	-0.9324	10	0.87932	D	0	.	6.5692	0.22529	0.0:1.0:0.0:0.0	.	61	P01037	CYTN_HUMAN	H	61	ENSP00000305731:D61H;ENSP00000381439:D61H	ENSP00000305731:D61H	D	-	1	0	CST1	23679323	0.008000	0.16893	0.002000	0.10522	0.018000	0.09664	0.516000	0.22817	0.861000	0.35504	0.184000	0.17185	GAT	CST1	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.567	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST1	HGNC	protein_coding	OTTHUMT00000078351.2	C	NM_001898		23731323	-1	no_errors	ENST00000304749	ensembl	human	known	70_37	missense	SNP	0.005	G
CSTF3	1479	genome.wustl.edu	37	11	33113844	33113844	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:33113844G>C	ENST00000323959.4	-	16	1557	c.1418C>G	c.(1417-1419)tCt>tGt	p.S473C	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	473					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						AAGGCTTCCAGATGTTAAAAC	0.358																																																	0													110.0	114.0	113.0					11																	33113844		2202	4298	6500	SO:0001583	missense	1479			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1418C>G	11.37:g.33113844G>C	ENSP00000315791:p.Ser473Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	pfam_Suf,smart_HAT	p.S473C	ENST00000323959.4	37	c.1418	CCDS7883.1	11	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939606	0.92526	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.36699	1.24	6.07	6.07	0.98685	Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.67496	0.2899	M	0.87758	2.905	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.70219	-0.4932	10	0.66056	D	0.02	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	473	Q12996	CSTF3_HUMAN	C	473;406	ENSP00000315791:S473C	ENSP00000315791:S473C	S	-	2	0	CSTF3	33070420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.858000	0.99539	2.890000	0.99128	0.585000	0.79938	TCT	CSTF3	-	pfam_Suf,smart_HAT		0.358	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF3	HGNC	protein_coding	OTTHUMT00000388801.1	G	NM_001326		33113844	-1	no_errors	ENST00000323959	ensembl	human	known	70_37	missense	SNP	1.000	C
CTAGE1	64693	genome.wustl.edu	37	18	19996018	19996018	+	5'Flank	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:19996018G>C	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Nonsense_Mutation_p.S586*			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGGGAGAGCTGAATCAGGATA	0.478																																																	0													57.0	60.0	59.0					18																	19996018		2189	4291	6480	SO:0001631	upstream_gene_variant	64693			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996018G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YIZ3	Nonsense_Mutation	SNP	NULL	p.S586*	ENST00000525417.1	37	c.1757		18	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670590	0.67814	.	.	ENSG00000212710	ENST00000391403	.	.	.	0.614	0.614	0.17603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	X	586	.	.	S	-	2	0	CTAGE1	18250016	0.993000	0.37304	0.013000	0.15412	0.010000	0.07245	0.820000	0.27323	0.581000	0.29539	0.298000	0.19748	TCA	CTAGE1	-	NULL		0.478	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	CTAGE1	HGNC	protein_coding	OTTHUMT00000386767.1	G	NM_022663, NM_172241		19996018	-1	no_errors	ENST00000391403	ensembl	human	known	70_37	nonsense	SNP	0.012	C
CTBP2	1488	genome.wustl.edu	37	10	126716145	126716145	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:126716145G>C	ENST00000337195.5	-	3	458				CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000309035.6_Missense_Mutation_p.L62V|CTBP2_ENST00000531469.1_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GCCACGGGCAGGGCAGCGTCC	0.622																																																	0													76.0	67.0	70.0					10																	126716145		2203	4300	6503	SO:0001627	intron_variant	1488			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+11420C>G	10.37:g.126716145G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.L62V	ENST00000337195.5	37	c.184	CCDS7643.1	10	.	.	.	.	.	.	.	.	.	.	G	8.525	0.869665	0.17322	.	.	ENSG00000175029	ENST00000309035	D	0.96459	-4.02	3.45	0.0982	0.14497	.	1.243120	0.06451	N	0.727657	D	0.91734	0.7386	.	.	.	0.18873	N	0.999985	B	0.06786	0.001	B	0.08055	0.003	T	0.80779	-0.1230	9	0.72032	D	0.01	.	0.971	0.01416	0.3051:0.192:0.3471:0.1557	.	62	P56545-2	.	V	62	ENSP00000311825:L62V	ENSP00000311825:L62V	L	-	1	2	CTBP2	126706135	0.998000	0.40836	0.003000	0.11579	0.746000	0.42486	0.614000	0.24314	-0.105000	0.12132	0.655000	0.94253	CTG	CTBP2	-	NULL		0.622	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3	G	NM_001083914		126716145	-1	no_errors	ENST00000309035	ensembl	human	known	70_37	missense	SNP	0.170	C
CTCF	10664	genome.wustl.edu	37	16	67663428	67663428	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:67663428C>T	ENST00000264010.4	+	10	2273	c.1829C>T	c.(1828-1830)tCt>tTt	p.S610F	CTCF_ENST00000401394.1_Missense_Mutation_p.S282F	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	610					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAAGATTCCTCTGACAGTGGT	0.453																																					Colon(175;1200 1966 6945 23069 27405)												0													162.0	150.0	154.0					16																	67663428		2198	4300	6498	SO:0001583	missense	10664			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1829C>T	16.37:g.67663428C>T	ENSP00000264010:p.Ser610Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S610F	ENST00000264010.4	37	c.1829	CCDS10841.1	16	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858724	0.51376	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.09163	3.01;3.07	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000006	T	0.11367	0.0277	N	0.19112	0.55	0.47476	D	0.999439	D;P	0.54964	0.969;0.94	B;P	0.44860	0.354;0.462	T	0.03717	-1.1010	10	0.52906	T	0.07	-3.0152	19.0839	0.93194	0.0:1.0:0.0:0.0	.	282;610	B5MC38;P49711	.;CTCF_HUMAN	F	610;282	ENSP00000264010:S610F;ENSP00000384707:S282F	ENSP00000264010:S610F	S	+	2	0	CTCF	66220929	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	5.053000	0.64269	2.625000	0.88918	0.313000	0.20887	TCT	CTCF	-	NULL		0.453	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTCF	HGNC	protein_coding	OTTHUMT00000268870.2	C	NM_006565		67663428	+1	no_errors	ENST00000264010	ensembl	human	known	70_37	missense	SNP	1.000	T
CTNNBIP1	56998	genome.wustl.edu	37	1	9931320	9931320	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:9931320C>G	ENST00000377263.1	-	5	423	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	CTNNBIP1_ENST00000377256.1_Missense_Mutation_p.E38Q|CTNNBIP1_ENST00000400904.3_Missense_Mutation_p.E38Q|CTNNBIP1_ENST00000377258.1_Missense_Mutation_p.E38Q|CTNNBIP1_ENST00000537447.1_Missense_Mutation_p.E38Q	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	38					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of DNA binding (GO:0043392)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)			cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AGGAACTCCTCCTCGCTGGCT	0.657																																																	0													65.0	50.0	55.0					1																	9931320		2200	4292	6492	SO:0001583	missense	56998			AB021262	CCDS106.1	1p36.22	2013-09-19	2001-11-29		ENSG00000178585	ENSG00000178585			16913	protein-coding gene	gene with protein product	"""beta-catenin-interacting protein ICAT"", ""inhibitor of beta-catenin and Tcf-4"""	607758	"""catenin, beta-interacting protein 1"""			10898789	Standard	XM_006710779		Approved	ICAT, MGC15093	uc001aql.1	Q9NSA3	OTTHUMG00000001796	ENST00000377263.1:c.112G>C	1.37:g.9931320C>G	ENSP00000366474:p.Glu38Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T4V2	Missense_Mutation	SNP	pfam_ICAT,superfamily_ICAT	p.E38Q	ENST00000377263.1	37	c.112	CCDS106.1	1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484872	0.63962	.	.	ENSG00000178585	ENST00000377263;ENST00000537447;ENST00000400904;ENST00000377258;ENST00000377256	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	U	0.000000	T	0.78811	0.4342	.	.	.	0.80722	D	1	D	0.56287	0.975	D	0.74023	0.982	T	0.79492	-0.1781	7	.	.	.	-20.1915	17.1645	0.86811	0.0:1.0:0.0:0.0	.	38	Q9NSA3	CNBP1_HUMAN	Q	38	.	.	E	-	1	0	CTNNBIP1	9853907	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.137000	0.77295	2.344000	0.79699	0.313000	0.20887	GAG	CTNNBIP1	-	pfam_ICAT,superfamily_ICAT		0.657	CTNNBIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNBIP1	HGNC	protein_coding	OTTHUMT00000005012.1	C	NM_020248		9931320	-1	no_errors	ENST00000377256	ensembl	human	known	70_37	missense	SNP	1.000	G
CTNNBL1	56259	genome.wustl.edu	37	20	36500431	36500431	+	3'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:36500431G>A	ENST00000361383.6	+	0	1825				CTNNBL1_ENST00000405275.2_3'UTR|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373469.1_3'UTR|CTNNBL1_ENST00000373473.1_3'UTR	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1						apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CCTTGGCCCTGCGCATCATGG	0.557																																					Ovarian(184;582 2038 3273 4106 42608)												0													46.0	43.0	44.0					20																	36500431		2203	4300	6503	SO:0001624	3_prime_UTR_variant	56259			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.*16G>A	20.37:g.36500431G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	RNA	SNP	-	NULL	ENST00000361383.6	37	NULL	CCDS13298.1	20																																																																																			CTNNBL1	-	-		0.557	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CTNNBL1	HGNC	protein_coding	OTTHUMT00000079125.1	G	NM_030877		36500431	+1	no_errors	ENST00000473857	ensembl	human	known	70_37	rna	SNP	0.001	A
CTNND1	1500	genome.wustl.edu	37	11	57564334	57564334	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:57564334C>T	ENST00000399050.4	+	6	1362	c.826C>T	c.(826-828)Cat>Tat	p.H276Y	CTNND1_ENST00000524630.1_Missense_Mutation_p.H276Y|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000529526.1_Missense_Mutation_p.H222Y|CTNND1_ENST00000399039.4_Missense_Mutation_p.H276Y|CTNND1_ENST00000532787.1_Missense_Mutation_p.H175Y|CTNND1_ENST00000532649.1_Missense_Mutation_p.H222Y|CTNND1_ENST00000529919.1_Missense_Mutation_p.H276Y|CTNND1_ENST00000361391.6_Missense_Mutation_p.H276Y|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000532245.1_Missense_Mutation_p.H175Y|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000361796.4_Missense_Mutation_p.H276Y|CTNND1_ENST00000360682.6_Missense_Mutation_p.H276Y|CTNND1_ENST00000526357.1_Missense_Mutation_p.H222Y|CTNND1_ENST00000532844.1_Missense_Mutation_p.H222Y|CTNND1_ENST00000528621.1_Missense_Mutation_p.H222Y|CTNND1_ENST00000361332.4_Missense_Mutation_p.H276Y|CTNND1_ENST00000415361.2_Missense_Mutation_p.H175Y|CTNND1_ENST00000529986.1_Missense_Mutation_p.H175Y|CTNND1_ENST00000426142.2_Missense_Mutation_p.H175Y|CTNND1_ENST00000530094.1_Missense_Mutation_p.H175Y|CTNND1_ENST00000428599.2_Missense_Mutation_p.H276Y|CTNND1_ENST00000532463.1_Missense_Mutation_p.H175Y|CTNND1_ENST00000529873.1_Missense_Mutation_p.H222Y|CTNND1_ENST00000526938.1_Missense_Mutation_p.H276Y|CTNND1_ENST00000528232.1_Missense_Mutation_p.H175Y|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000534579.1_Missense_Mutation_p.H222Y|CTNND1_ENST00000530748.1_Missense_Mutation_p.H222Y|CTNND1_ENST00000358694.6_Missense_Mutation_p.H276Y	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	276					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GCATCGCTTTCATCCAGAGCC	0.562																																																	0													129.0	138.0	135.0					11																	57564334		2130	4255	6385	SO:0001583	missense	1500			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.826C>T	11.37:g.57564334C>T	ENSP00000382004:p.His276Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.H276Y	ENST00000399050.4	37	c.826	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980166	0.53827	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000528232;ENST00000529873;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938;ENST00000534647	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71222	-0.18;-0.18;-0.18;-0.55;-0.18;-0.18;-0.1;-0.19;-0.55;-0.19;-0.1;-0.1;-0.18;-0.44;-0.18;-0.18;-0.18;-0.18;-0.1;-0.54;-0.19;-0.19;-0.19;-0.19;-0.1;-0.18;-0.55;2.29	5.92	5.92	0.95590	Armadillo-like helical (1);	0.235104	0.45126	D	0.000386	T	0.68522	0.3010	L	0.40543	1.245	0.38121	D	0.937842	D;D;P;D;D;D;D;P	0.53745	0.962;0.962;0.936;0.962;0.962;0.959;0.962;0.936	B;B;B;B;B;P;B;B	0.49999	0.373;0.373;0.206;0.373;0.373;0.628;0.373;0.206	T	0.64390	-0.6419	10	0.02654	T	1	-0.5411	19.9276	0.97108	0.0:1.0:0.0:0.0	.	276;276;276;222;222;276;276;276	O60716-3;O60716-2;O60716;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.	Y	276;276;276;276;276;222;175;276;276;276;175;175;276;175;222;222;222;276;175;222;222;222;175;175;175;222;276;198	ENSP00000436543:H276Y;ENSP00000434808:H276Y;ENSP00000381996:H276Y;ENSP00000353902:H276Y;ENSP00000354907:H276Y;ENSP00000436323:H222Y;ENSP00000409930:H175Y;ENSP00000382004:H276Y;ENSP00000354785:H276Y;ENSP00000354823:H276Y;ENSP00000432075:H175Y;ENSP00000437156:H175Y;ENSP00000351527:H276Y;ENSP00000434949:H175Y;ENSP00000435379:H222Y;ENSP00000432243:H222Y;ENSP00000436744:H222Y;ENSP00000413586:H276Y;ENSP00000435266:H175Y;ENSP00000435494:H222Y;ENSP00000433276:H222Y;ENSP00000433334:H222Y;ENSP00000437327:H175Y;ENSP00000403518:H175Y;ENSP00000434017:H175Y;ENSP00000435789:H222Y;ENSP00000432041:H276Y;ENSP00000434202:H198Y	ENSP00000351527:H276Y	H	+	1	0	CTNND1	57320910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.403000	0.59729	2.805000	0.96524	0.655000	0.94253	CAT	CTNND1	-	NULL		0.562	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	C	NM_001331		57564334	+1	no_errors	ENST00000399050	ensembl	human	known	70_37	missense	SNP	1.000	T
CTNND2	1501	genome.wustl.edu	37	5	10972668	10972668	+	3'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:10972668C>G	ENST00000304623.8	-	0	4764				CTNND2_ENST00000359640.2_3'UTR|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2						cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AATTTATTTTCTTTTAACACT	0.279																																																	0																																										SO:0001624	3_prime_UTR_variant	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.*897G>C	5.37:g.10972668C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	RNA	SNP	-	NULL	ENST00000304623.8	37	NULL	CCDS3881.1	5																																																																																			CTNND2	-	-		0.279	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	C	NM_001332		10972668	-1	no_errors	ENST00000495388	ensembl	human	known	70_37	rna	SNP	1.000	G
CUL1	8454	genome.wustl.edu	37	7	148484149	148484149	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:148484149G>A	ENST00000325222.4	+	13	1695	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K	CUL1_ENST00000602748.1_Silent_p.K472K|CUL1_ENST00000409469.1_Silent_p.K472K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	472					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGCTCGCCAAGAGGCTCGTCC	0.463																																																	0													100.0	94.0	96.0					7																	148484149		2203	4300	6503	SO:0001819	synonymous_variant	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1416G>A	7.37:g.148484149G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWG3|O60719|Q08AL6|Q8IYW1	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.K472	ENST00000325222.4	37	c.1416	CCDS34772.1	7																																																																																			CUL1	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology		0.463	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	G	NM_003592		148484149	+1	no_errors	ENST00000325222	ensembl	human	known	70_37	silent	SNP	0.998	A
CUL7	9820	genome.wustl.edu	37	6	43017742	43017742	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:43017742G>C	ENST00000265348.3	-	6	1613	c.1528C>G	c.(1528-1530)Cag>Gag	p.Q510E	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Missense_Mutation_p.Q594E			Q14999	CUL7_HUMAN	cullin 7	510					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGAACCTCCTGATGGTCAGGT	0.562																																																	0													117.0	108.0	111.0					6																	43017742		2203	4300	6503	SO:0001583	missense	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1528C>G	6.37:g.43017742G>C	ENSP00000265348:p.Gln510Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.Q594E	ENST00000265348.3	37	c.1780	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893553	0.33442	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.63255	-0.03;-0.03	5.12	4.19	0.49359	.	0.299406	0.33834	N	0.004511	T	0.35038	0.0918	L	0.38838	1.175	0.80722	D	1	B;B	0.18013	0.018;0.025	B;B	0.20384	0.029;0.012	T	0.23940	-1.0174	10	0.30078	T	0.28	-8.8866	11.1716	0.48575	0.0:0.2311:0.6423:0.1266	.	594;510	F5H0L1;Q14999	.;CUL7_HUMAN	E	510;594	ENSP00000265348:Q510E;ENSP00000438788:Q594E	ENSP00000265348:Q510E	Q	-	1	0	CUL7	43125720	0.994000	0.37717	0.160000	0.22671	0.829000	0.46940	2.091000	0.41691	2.395000	0.81488	0.655000	0.94253	CAG	CUL7	-	NULL		0.562	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	G	NM_014780		43017742	-1	no_errors	ENST00000535468	ensembl	human	known	70_37	missense	SNP	0.986	C
CUL7	9820	genome.wustl.edu	37	6	43017776	43017776	+	Silent	SNP	G	G	C	rs200634785		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:43017776G>C	ENST00000265348.3	-	6	1579	c.1494C>G	c.(1492-1494)ctC>ctG	p.L498L	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Silent_p.L582L			Q14999	CUL7_HUMAN	cullin 7	498					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGATGAAGAAGAGGAGTTCCC	0.552																																																	0													117.0	107.0	110.0					6																	43017776		2203	4300	6503	SO:0001819	synonymous_variant	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1494C>G	6.37:g.43017776G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYZ0|F5H0L1|Q5T654	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.L582	ENST00000265348.3	37	c.1746	CCDS4881.1	6																																																																																			CUL7	-	NULL		0.552	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	G	NM_014780		43017776	-1	no_errors	ENST00000535468	ensembl	human	known	70_37	silent	SNP	0.988	C
CUL7	9820	genome.wustl.edu	37	6	43018878	43018878	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:43018878G>T	ENST00000265348.3	-	4	1146	c.1061C>A	c.(1060-1062)tCa>tAa	p.S354*	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Nonsense_Mutation_p.S438*			Q14999	CUL7_HUMAN	cullin 7	354					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AAAACGTCTTGACCTCCTGAA	0.612																																																	0													88.0	85.0	86.0					6																	43018878		2203	4300	6503	SO:0001587	stop_gained	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1061C>A	6.37:g.43018878G>T	ENSP00000265348:p.Ser354*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYZ0|F5H0L1|Q5T654	Nonsense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.S438*	ENST00000265348.3	37	c.1313	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.866021	0.97043	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	.	.	.	5.39	4.46	0.54185	.	0.834336	0.10513	N	0.665920	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4096	12.2196	0.54428	0.0:0.0:0.7177:0.2823	.	.	.	.	X	354;438	.	ENSP00000265348:S354X	S	-	2	0	CUL7	43126856	0.618000	0.27051	0.997000	0.53966	0.955000	0.61496	1.779000	0.38624	2.533000	0.85409	0.563000	0.77884	TCA	CUL7	-	NULL		0.612	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	G	NM_014780		43018878	-1	no_errors	ENST00000535468	ensembl	human	known	70_37	nonsense	SNP	0.981	T
CUL9	23113	genome.wustl.edu	37	6	43153911	43153911	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:43153911C>T	ENST00000252050.4	+	4	1053	c.969C>T	c.(967-969)ctC>ctT	p.L323L	CUL9_ENST00000372647.2_Silent_p.L323L|CUL9_ENST00000354495.3_Silent_p.L323L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	323					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCCGGAACCTCAGCGAACAGG	0.607																																																	0													103.0	97.0	99.0					6																	43153911		2203	4300	6503	SO:0001819	synonymous_variant	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.969C>T	6.37:g.43153911C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.L323	ENST00000252050.4	37	c.969	CCDS4890.1	6																																																																																			CUL9	-	NULL		0.607	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	C	NM_015089		43153911	+1	no_errors	ENST00000252050	ensembl	human	known	70_37	silent	SNP	0.959	T
CUL9	23113	genome.wustl.edu	37	6	43164388	43164388	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:43164388C>T	ENST00000252050.4	+	11	2675	c.2591C>T	c.(2590-2592)tCt>tTt	p.S864F	CUL9_ENST00000372647.2_Missense_Mutation_p.S864F|CUL9_ENST00000354495.3_Missense_Mutation_p.S754F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	864					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCCAGGTGCTCTTCTGCAGCG	0.522																																																	0													167.0	161.0	163.0					6																	43164388		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2591C>T	6.37:g.43164388C>T	ENSP00000252050:p.Ser864Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.S864F	ENST00000252050.4	37	c.2591	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171907	0.57584	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73789	-0.78;-0.78;-0.68	5.61	4.73	0.59995	Armadillo-type fold (1);	0.390400	0.28047	N	0.016808	T	0.72859	0.3513	L	0.40543	1.245	0.33000	D	0.526088	D;D;D	0.71674	0.996;0.998;0.998	D;D;D	0.71184	0.931;0.972;0.972	T	0.77153	-0.2692	10	0.87932	D	0	-16.0557	12.4175	0.55502	0.0:0.8309:0.1691:0.0	.	754;864;864	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	F	864;754;864	ENSP00000252050:S864F;ENSP00000346490:S754F;ENSP00000361730:S864F	ENSP00000252050:S864F	S	+	2	0	CUL9	43272366	0.997000	0.39634	0.998000	0.56505	0.754000	0.42855	1.280000	0.33202	1.349000	0.45751	0.655000	0.94253	TCT	CUL9	-	superfamily_ARM-type_fold		0.522	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	C	NM_015089		43164388	+1	no_errors	ENST00000252050	ensembl	human	known	70_37	missense	SNP	0.996	T
CX3CL1	6376	genome.wustl.edu	37	16	57416043	57416043	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:57416043G>A	ENST00000006053.6	+	3	404	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	CX3CL1_ENST00000563383.1_Missense_Mutation_p.R104Q|CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000565912.1_Missense_Mutation_p.R60Q	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	98	Chemokine.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCCTAACTCGAAATGGCGGC	0.637																																																	0													56.0	56.0	56.0					16																	57416043		2198	4300	6498	SO:0001583	missense	6376			U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.293G>A	16.37:g.57416043G>A	ENSP00000006053:p.Arg98Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O00672	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1	p.R98Q	ENST00000006053.6	37	c.293	CCDS10779.1	16	.	.	.	.	.	.	.	.	.	.	G	9.736	1.163482	0.21538	.	.	ENSG00000006210	ENST00000006053	T	0.03831	3.79	5.58	-11.2	0.00127	Chemokine interleukin-8-like domain (1);	7.943350	0.00397	N	0.000042	T	0.01661	0.0053	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.46898	-0.9158	10	0.87932	D	0	-15.1588	3.6357	0.08148	0.2267:0.3305:0.3438:0.0989	.	98	P78423	X3CL1_HUMAN	Q	98	ENSP00000006053:R98Q	ENSP00000006053:R98Q	R	+	2	0	CX3CL1	55973544	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-4.093000	0.00296	-2.688000	0.00405	-1.225000	0.01585	CGA	CX3CL1	-	superfamily_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1		0.637	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CL1	HGNC	protein_coding	OTTHUMT00000257345.3	G	NM_002996		57416043	+1	no_errors	ENST00000006053	ensembl	human	known	70_37	missense	SNP	0.000	A
CXCL2	2920	genome.wustl.edu	37	4	74964651	74964651	+	Intron	SNP	G	G	C	rs200911424	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:74964651G>C	ENST00000508487.2	-	2	273				CXCL2_ENST00000296031.4_5'UTR	NM_002089.3	NP_002080.1	P19875	CXCL2_HUMAN	chemokine (C-X-C motif) ligand 2						cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|response to molecule of bacterial origin (GO:0002237)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			lung(1)	1	Breast(15;0.00612)		all cancers(17;0.00317)|Lung(101;0.196)			TAGGGAAGAAGAGACTCGCTG	0.687																																																	0													57.0	66.0	63.0					4																	74964651		2203	4300	6503	SO:0001627	intron_variant	2920			M36820	CCDS34008.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000081041		"""Endogenous ligands"""	4603	protein-coding gene	gene with protein product		139110	"""GRO2 oncogene"""	GRO2		2217207	Standard	NM_002089		Approved	SCYB2, GROb, MIP-2a, MGSA-b, CINC-2a	uc003hhm.4	P19875		ENST00000508487.2:c.101-12C>G	4.37:g.74964651G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FGD6|Q9UPB8	RNA	SNP	-	NULL	ENST00000508487.2	37	NULL	CCDS34008.1	4																																																																																			CXCL2	-	-		0.687	CXCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL2	HGNC	protein_coding	OTTHUMT00000362731.2	G	NM_002089		74964651	-1	no_errors	ENST00000296031	ensembl	human	putative	70_37	rna	SNP	0.000	C
ACKR3	57007	genome.wustl.edu	37	2	237489360	237489360	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:237489360G>C	ENST00000272928.3	+	2	562	c.252G>C	c.(250-252)ttG>ttC	p.L84F		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	84					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										GCTACATCTTGAACCTGGCCA	0.562																																																	0													163.0	139.0	147.0					2																	237489360		2203	4300	6503	SO:0001583	missense	57007			BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.252G>C	2.37:g.237489360G>C	ENSP00000272928:p.Leu84Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RDC1_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,prints_Frt_met_rcpt	p.L84F	ENST00000272928.3	37	c.252	CCDS2516.1	2	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258483	0.23051	.	.	ENSG00000144476	ENST00000447924;ENST00000272928	T;T	0.74315	-0.83;-0.83	5.57	-4.19	0.03835	GPCR, rhodopsin-like superfamily (1);	0.376127	0.25490	N	0.030310	T	0.56615	0.1997	N	0.25031	0.7	0.38759	D	0.954278	B	0.15719	0.014	B	0.17722	0.019	T	0.34428	-0.9829	10	0.40728	T	0.16	.	14.3216	0.66489	0.1499:0.6261:0.2239:0.0	.	84	P25106	CXCR7_HUMAN	F	84	ENSP00000405945:L84F;ENSP00000272928:L84F	ENSP00000272928:L84F	L	+	3	2	CXCR7	237154099	0.258000	0.24033	0.612000	0.29024	0.945000	0.59286	-0.373000	0.07494	-0.450000	0.07107	-0.257000	0.10917	TTG	CXCR7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.562	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR7	HGNC	protein_coding	OTTHUMT00000257079.2	G	NM_020311		237489360	+1	no_errors	ENST00000272928	ensembl	human	known	70_37	missense	SNP	0.751	C
CXXC1	30827	genome.wustl.edu	37	18	47812538	47812538	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:47812538C>T	ENST00000285106.6	-	4	1027	c.313G>A	c.(313-315)Gag>Aag	p.E105K	CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.E105K|CXXC1_ENST00000412036.2_Missense_Mutation_p.E105K	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	105					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCTCCACCCTCATCCCGGGGC	0.647																																																	0													98.0	106.0	103.0					18																	47812538		2203	4300	6503	SO:0001583	missense	30827			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.313G>A	18.37:g.47812538C>T	ENSP00000285106:p.Glu105Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.E105K	ENST00000285106.6	37	c.313	CCDS11945.1	18	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172577	0.38315	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.21361	2.01;2.01	4.1	4.1	0.47936	.	0.509628	0.17336	N	0.177928	T	0.11750	0.0286	N	0.19112	0.55	0.39052	D	0.960359	B;B;B;B	0.31548	0.085;0.022;0.328;0.052	B;B;B;B	0.19148	0.01;0.002;0.024;0.008	T	0.18209	-1.0344	10	0.20519	T	0.43	-24.9128	12.2138	0.54394	0.0:1.0:0.0:0.0	.	105;105;105;105	B4DGL1;B2RC03;Q9P0U4-2;Q9P0U4	.;.;.;CXXC1_HUMAN	K	105	ENSP00000285106:E105K;ENSP00000390475:E105K	ENSP00000285106:E105K	E	-	1	0	CXXC1	46066536	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	2.156000	0.42310	2.033000	0.60031	0.442000	0.29010	GAG	CXXC1	-	NULL		0.647	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXXC1	HGNC	protein_coding	OTTHUMT00000255927.2	C	NM_014593		47812538	-1	no_errors	ENST00000412036	ensembl	human	known	70_37	missense	SNP	1.000	T
CXorf31	724087	genome.wustl.edu	37	X	46749730	46749730	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:46749730C>G	ENST00000377879.3	-	3	242	c.135G>C	c.(133-135)aaG>aaC	p.K45N						chromosome X open reading frame 31																		CCACTTACCTCTTTAGTCTTC	0.502																																																	0																																										SO:0001583	missense	724087			BC038573		Xp11.3	2013-01-16			ENSG00000204904	ENSG00000204904			17986	other	unknown							Standard	NR_046101		Approved	OTTHUMG00000021429	uc031tji.1	Q5VT33	OTTHUMG00000021429	ENST00000377879.3:c.135G>C	X.37:g.46749730C>G	ENSP00000367111:p.Lys45Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.K45N	ENST00000377879.3	37	c.135		X	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520925	0.27211	.	.	ENSG00000204904	ENST00000377879	.	.	.	2.17	-1.53	0.08611	.	.	.	.	.	T	0.35219	0.0924	.	.	.	.	.	.	.	.	.	.	.	.	T	0.44267	-0.9339	4	0.87932	D	0	.	2.5248	0.04689	0.0:0.3104:0.2681:0.4216	.	.	.	.	N	45	.	ENSP00000367111:K45N	K	-	3	2	CXorf31	46634674	0.127000	0.22367	0.000000	0.03702	0.673000	0.39480	0.761000	0.26489	-0.481000	0.06792	0.466000	0.42574	AAG	CXorf31	-	NULL		0.502	CXorf31-001	KNOWN	basic|appris_principal	protein_coding	CXorf31	HGNC	protein_coding	OTTHUMT00000056374.1	C	NR_046101		46749730	-1	no_errors	ENST00000377879	ensembl	human	known	70_37	missense	SNP	0.000	G
CXorf57	55086	genome.wustl.edu	37	X	105855822	105855822	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:105855822G>T	ENST00000372548.4	+	1	621	c.512G>T	c.(511-513)aGa>aTa	p.R171I	CXorf57_ENST00000372544.2_Missense_Mutation_p.R171I	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	171							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTCAGAAATAGAGCGCACCAG	0.468																																																	0													90.0	98.0	95.0					X																	105855822		2203	4300	6503	SO:0001583	missense	55086			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.512G>T	X.37:g.105855822G>T	ENSP00000361628:p.Arg171Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.R171I	ENST00000372548.4	37	c.512	CCDS14519.1	X	.	.	.	.	.	.	.	.	.	.	G	9.983	1.228713	0.22542	.	.	ENSG00000147231	ENST00000372544;ENST00000372548	T;T	0.79554	-1.28;-1.28	3.5	2.63	0.31362	Nucleic acid-binding, OB-fold-like (1);	0.431284	0.23454	N	0.048018	T	0.68577	0.3016	L	0.44542	1.39	0.24709	N	0.993217	B;B;B	0.32467	0.189;0.372;0.255	B;B;B	0.32533	0.147;0.147;0.048	T	0.58171	-0.7683	10	0.38643	T	0.18	-0.8318	4.211	0.10512	0.1359:0.236:0.6281:0.0	.	171;171;171	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	I	171	ENSP00000361623:R171I;ENSP00000361628:R171I	ENSP00000361623:R171I	R	+	2	0	CXorf57	105742478	0.009000	0.17119	0.484000	0.27391	0.810000	0.45777	1.336000	0.33850	0.840000	0.34995	0.594000	0.82650	AGA	CXorf57	-	superfamily_NA-bd_OB-fold-like		0.468	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf57	HGNC	protein_coding	OTTHUMT00000057800.2	G	NM_018015		105855822	+1	no_errors	ENST00000372548	ensembl	human	known	70_37	missense	SNP	0.197	T
CXorf40A	91966	genome.wustl.edu	37	X	148627246	148627246	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:148627246G>A	ENST00000441248.1	+	3	1657	c.70G>A	c.(70-72)Gag>Aag	p.E24K	RP5-937E21.8_ENST00000431993.1_RNA|CXorf40A_ENST00000393985.3_Missense_Mutation_p.E24K|CXorf40A_ENST00000450602.2_Missense_Mutation_p.E24K|CXorf40A_ENST00000428236.1_Intron|CXorf40A_ENST00000423421.1_Missense_Mutation_p.E24K|CXorf40A_ENST00000423540.2_Missense_Mutation_p.E24K|CXorf40A_ENST00000514208.1_Missense_Mutation_p.E24K|CXorf40A_ENST00000359293.5_Missense_Mutation_p.E24K|CXorf40A_ENST00000422892.2_Missense_Mutation_p.E24K|CXorf40A_ENST00000434353.2_Missense_Mutation_p.E24K			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	24										breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAAGACTGTGGAGACGCGCTG	0.612																																																	0													50.0	38.0	42.0					X																	148627246		2202	4298	6500	SO:0001583	missense	91966			AF011889	CCDS14687.1, CCDS55522.1	Xq28	2010-03-16	2005-09-13	2005-09-13	ENSG00000197620	ENSG00000197620			28089	protein-coding gene	gene with protein product	"""endothelial-overexpressed lipopolysaccharide-associated factor 1"""		"""chromosome X open reading frame 40"""	CXorf40		8717057, 9147653, 16383041	Standard	XM_005278212		Approved	EOLA1	uc004fdg.3	Q8TE69	OTTHUMG00000022622	ENST00000441248.1:c.70G>A	X.37:g.148627246G>A	ENSP00000423099:p.Glu24Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K784|B7Z6H6|B7ZL96|D6RA72|E7ENU3|Q2M3E9	Missense_Mutation	SNP	superfamily_PUA-like_domain	p.E24K	ENST00000441248.1	37	c.70	CCDS14687.1	X	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993446	0.74703	.	.	ENSG00000197620	ENST00000431132;ENST00000450602;ENST00000441248;ENST00000393985;ENST00000423421;ENST00000423540;ENST00000434353;ENST00000514208;ENST00000422892;ENST00000359293	D;D;D;D;D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	3.39	3.39	0.38822	PUA-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95762	0.8621	M	0.83953	2.67	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.999;0.996	D;D;D	0.87578	0.998;0.996;0.99	D	0.96273	0.9200	10	0.87932	D	0	.	13.5531	0.61745	0.0:0.0:1.0:0.0	.	24;24;24	Q8TE69;E7ENU3;D6RA72	CX04A_HUMAN;.;.	K	24	ENSP00000427540:E24K;ENSP00000423099:E24K;ENSP00000421745:E24K;ENSP00000422512:E24K;ENSP00000425520:E24K;ENSP00000423160:E24K;ENSP00000423708:E24K;ENSP00000422312:E24K;ENSP00000420882:E24K	ENSP00000420882:E24K	E	+	1	0	CXorf40A	148435151	1.000000	0.71417	0.180000	0.23079	0.574000	0.36063	7.299000	0.78831	1.698000	0.51180	0.455000	0.32223	GAG	CXorf40A	-	superfamily_PUA-like_domain		0.612	CXorf40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf40A	HGNC	protein_coding	OTTHUMT00000058699.3	G	NM_178124		148627246	+1	no_errors	ENST00000359293	ensembl	human	known	70_37	missense	SNP	1.000	A
CYB5B	80777	genome.wustl.edu	37	16	69458597	69458597	+	5'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:69458597C>G	ENST00000512062.1	+	0	170				CYB5B_ENST00000307892.8_Nonsense_Mutation_p.S4*|CYB5B_ENST00000561792.1_5'UTR|CYB5B_ENST00000515314.1_5'UTR			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)						oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				ATGTCCGGTTCAATGGCGACT	0.592																																																	0													72.0	77.0	75.0					16																	69458597		2034	4196	6230	SO:0001623	5_prime_UTR_variant	80777				CCDS10880.2	16q22.1	2006-02-02			ENSG00000103018	ENSG00000103018			24374	protein-coding gene	gene with protein product		611964				11867265, 14733950	Standard	NM_030579		Approved	CYB5-M	uc002exg.1	O43169	OTTHUMG00000133020	ENST00000512062.1:c.-2C>G	16.37:g.69458597C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6B1|Q96CC3|Q9BT35	Nonsense_Mutation	SNP	pfam_Cyt_B5,superfamily_Cyt_B5,superfamily_Aquaporin-like,pfscan_Cyt_B5,prints_Cyt_B5	p.S4*	ENST00000512062.1	37	c.11		16	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802889	0.90623	.	.	ENSG00000103018	ENST00000307892	.	.	.	5.87	1.4	0.22301	.	1.182760	0.06926	U	0.810241	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	6.3853	4.8966	0.13753	0.0:0.4914:0.1442:0.3644	.	.	.	.	X	4	.	ENSP00000308430:S4X	S	+	2	0	CYB5B	68016098	0.000000	0.05858	0.004000	0.12327	0.055000	0.15305	-0.033000	0.12246	0.087000	0.17167	-0.136000	0.14681	TCA	CYB5B	-	NULL		0.592	CYB5B-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	CYB5B	HGNC	protein_coding	OTTHUMT00000256606.2	C	NM_030579		69458597	+1	no_errors	ENST00000307892	ensembl	human	known	70_37	nonsense	SNP	0.001	G
CYB5B	80777	genome.wustl.edu	37	16	69458700	69458700	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:69458700G>A	ENST00000512062.1	+	1	273	c.102G>A	c.(100-102)ttG>ttA	p.L34L	CYB5B_ENST00000307892.8_Silent_p.L38L|CYB5B_ENST00000561792.1_Silent_p.L34L|CYB5B_ENST00000515314.1_Silent_p.L34L			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	34	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				GCAACTCCTTGAAGGAACTGT	0.607																																																	0													72.0	76.0	75.0					16																	69458700		2085	4221	6306	SO:0001819	synonymous_variant	80777				CCDS10880.2	16q22.1	2006-02-02			ENSG00000103018	ENSG00000103018			24374	protein-coding gene	gene with protein product		611964				11867265, 14733950	Standard	NM_030579		Approved	CYB5-M	uc002exg.1	O43169	OTTHUMG00000133020	ENST00000512062.1:c.102G>A	16.37:g.69458700G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6B1|Q96CC3|Q9BT35	Silent	SNP	pfam_Cyt_B5,superfamily_Cyt_B5,superfamily_Aquaporin-like,pfscan_Cyt_B5,prints_Cyt_B5	p.L38	ENST00000512062.1	37	c.114		16																																																																																			CYB5B	-	pfam_Cyt_B5,superfamily_Cyt_B5,pfscan_Cyt_B5		0.607	CYB5B-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	CYB5B	HGNC	protein_coding	OTTHUMT00000256606.2	G	NM_030579		69458700	+1	no_errors	ENST00000307892	ensembl	human	known	70_37	silent	SNP	0.254	A
CYFIP1	23191	genome.wustl.edu	37	15	22928439	22928439	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:22928439G>C	ENST00000313077.7	+	5	441	c.316G>C	c.(316-318)Gaa>Caa	p.E106Q	CYFIP1_ENST00000560848.1_Missense_Mutation_p.E106Q	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TAACAGAGTGGAAATCTACGA	0.473																																																	0													140.0	154.0	149.0					15																	22928439		2203	4300	6503	SO:0001583	missense	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.316G>C	15.37:g.22928439G>C	ENSP00000324549:p.Glu106Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.E106Q	ENST00000313077.7	37	c.316	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055682	0.55325	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.48201	0.82	4.84	4.84	0.62591	.	0.146334	0.46758	N	0.000280	T	0.66733	0.2819	M	0.69358	2.11	0.80722	D	1	D;B	0.63880	0.993;0.018	D;B	0.70227	0.968;0.063	T	0.65606	-0.6127	10	0.39692	T	0.17	-18.022	18.1393	0.89634	0.0:0.0:1.0:0.0	.	134;106	E7EQ04;Q7L576	.;CYFP1_HUMAN	Q	106;134	ENSP00000324549:E106Q	ENSP00000324549:E106Q	E	+	1	0	CYFIP1	20479880	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.403000	0.97302	2.520000	0.84964	0.561000	0.74099	GAA	CYFIP1	-	pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int		0.473	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	G	NM_014608		22928439	+1	no_errors	ENST00000313077	ensembl	human	known	70_37	missense	SNP	1.000	C
CYFIP1	23191	genome.wustl.edu	37	15	22997803	22997803	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:22997803G>A	ENST00000313077.7	+	27	3174	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	CYFIP1_ENST00000435939.2_Missense_Mutation_p.E586K|CYFIP1_ENST00000560848.1_Missense_Mutation_p.E1017K	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CTAGTCTTTAGAAGAAGTGTG	0.522																																																	0													195.0	191.0	192.0					15																	22997803		2203	4300	6503	SO:0001583	missense	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.3049G>A	15.37:g.22997803G>A	ENSP00000324549:p.Glu1017Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.E1017K	ENST00000313077.7	37	c.3049	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234082	0.79688	.	.	ENSG00000068793	ENST00000313077;ENST00000435939	T;T	0.23950	1.88;1.88	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000001	T	0.56587	0.1995	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.68943	0.961;0.876	T	0.55088	-0.8195	10	0.27082	T	0.32	.	19.7152	0.96115	0.0:0.0:1.0:0.0	.	586;1017	Q7L576-2;Q7L576	.;CYFP1_HUMAN	K	1017;586	ENSP00000324549:E1017K;ENSP00000405956:E586K	ENSP00000324549:E1017K	E	+	1	0	CYFIP1	20549244	1.000000	0.71417	0.983000	0.44433	0.036000	0.12997	9.509000	0.98002	2.733000	0.93635	0.591000	0.81541	GAA	CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub		0.522	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	G	NM_014608		22997803	+1	no_errors	ENST00000313077	ensembl	human	known	70_37	missense	SNP	1.000	A
CYLD	1540	genome.wustl.edu	37	16	50783889	50783889	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:50783889G>C	ENST00000427738.3	+	2	485	c.280G>C	c.(280-282)Gaa>Caa	p.E94Q	CYLD_ENST00000566206.1_Missense_Mutation_p.E94Q|CYLD_ENST00000568704.2_Missense_Mutation_p.E94Q|CYLD_ENST00000398568.2_Missense_Mutation_p.E94Q|CYLD_ENST00000540145.1_Missense_Mutation_p.E94Q|CYLD_ENST00000311559.9_Missense_Mutation_p.E94Q|CYLD_ENST00000569418.1_Missense_Mutation_p.E94Q|CYLD_ENST00000564326.1_Missense_Mutation_p.E94Q			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	94					cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AGAGATAAATGAAAAGTTCAC	0.363			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0													90.0	87.0	88.0					16																	50783889		1827	4076	5903	SO:0001583	missense	1540	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.280G>C	16.37:g.50783889G>C	ENSP00000392025:p.Glu94Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Peptidase_C19,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19	p.E94Q	ENST00000427738.3	37	c.280	CCDS45482.1	16	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977245	0.92982	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	6.17	6.17	0.99709	Cytoskeleton-associated protein, Gly-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.95629	0.8579	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.71674	0.997;0.998;0.998;0.997	D;D;D;D	0.80764	0.986;0.994;0.994;0.986	D	0.95758	0.8798	10	0.72032	D	0.01	-34.8433	19.8676	0.96824	0.0:0.0:1.0:0.0	.	94;94;94;94	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	Q	94	ENSP00000445447:E94Q;ENSP00000308928:E94Q;ENSP00000392025:E94Q;ENSP00000381574:E94Q	ENSP00000308928:E94Q	E	+	1	0	CYLD	49341390	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.390000	0.97246	2.941000	0.99782	0.655000	0.94253	GAA	CYLD	-	superfamily_CAP-Gly_domain		0.363	CYLD-010	KNOWN	basic|CCDS	protein_coding	CYLD	HGNC	protein_coding	OTTHUMT00000422998.2	G			50783889	+1	no_errors	ENST00000311559	ensembl	human	known	70_37	missense	SNP	1.000	C
CYP26A1	1592	genome.wustl.edu	37	10	94836399	94836399	+	Silent	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:94836399G>T	ENST00000224356.4	+	6	1143	c.1098G>T	c.(1096-1098)ctG>ctT	p.L366L	CYP26A1_ENST00000371531.1_Silent_p.L297L|CYP26A1_ENST00000394139.1_Silent_p.L297L	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	366					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	CCCTTCGACTGAATCCCCCAG	0.383																																																	0													96.0	98.0	97.0					10																	94836399		2203	4300	6503	SO:0001819	synonymous_variant	1592			AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.1098G>T	10.37:g.94836399G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNI4|Q5VXH9|Q5VXI0	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B	p.L366	ENST00000224356.4	37	c.1098	CCDS7426.1	10																																																																																			CYP26A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B		0.383	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP26A1	HGNC	protein_coding	OTTHUMT00000049408.3	G			94836399	+1	no_errors	ENST00000224356	ensembl	human	known	70_37	silent	SNP	1.000	T
CYP27A1	1593	genome.wustl.edu	37	2	219679158	219679158	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:219679158G>C	ENST00000258415.4	+	7	1667	c.1240G>C	c.(1240-1242)Gat>Cat	p.D414H		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	414					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	AATTGAAGTTGATGGCTTCCT	0.537																																																	0													103.0	108.0	107.0					2																	219679158		2203	4300	6503	SO:0001583	missense	1593			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1240G>C	2.37:g.219679158G>C	ENSP00000258415:p.Asp414His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.D414H	ENST00000258415.4	37	c.1240	CCDS2423.1	2	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602980	0.66445	.	.	ENSG00000135929	ENST00000258415	T	0.70399	-0.48	5.75	2.96	0.34315	.	0.324087	0.36815	N	0.002385	T	0.69949	0.3168	L	0.38649	1.16	0.09310	N	1	P	0.52463	0.953	P	0.56788	0.806	T	0.61108	-0.7129	10	0.62326	D	0.03	-0.7014	8.3123	0.32080	0.246:0.0:0.754:0.0	.	414	Q02318	CP27A_HUMAN	H	414	ENSP00000258415:D414H	ENSP00000258415:D414H	D	+	1	0	CYP27A1	219387402	1.000000	0.71417	0.048000	0.18961	0.815000	0.46073	3.965000	0.56788	0.332000	0.23536	0.561000	0.74099	GAT	CYP27A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.537	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27A1	HGNC	protein_coding	OTTHUMT00000109734.4	G			219679158	+1	no_errors	ENST00000258415	ensembl	human	known	70_37	missense	SNP	0.044	C
CYP2A7	1549	genome.wustl.edu	37	19	41388019	41388019	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:41388019G>C	ENST00000301146.4	-	1	638	c.97C>G	c.(97-99)Ctg>Gtg	p.L33V	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.L33V	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	33						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCGGAGGCAGCTTCCCCCTG	0.582																																																	0													92.0	76.0	81.0					19																	41388019		2203	4300	6503	SO:0001583	missense	1549			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.97C>G	19.37:g.41388019G>C	ENSP00000301146:p.Leu33Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13121	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like	p.L33V	ENST00000301146.4	37	c.97	CCDS12569.1	19	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354947	0.41700	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.14766	4.85;2.48	2.33	-1.79	0.07932	.	0.110508	0.39210	U	0.001423	T	0.23370	0.0565	M	0.73217	2.22	0.23132	N	0.99825	D;P	0.54047	0.964;0.479	P;B	0.60789	0.879;0.308	T	0.08371	-1.0725	10	0.87932	D	0	.	3.7918	0.08724	0.2433:0.0:0.5682:0.1885	.	33;33	F8W816;P20853	.;CP2A7_HUMAN	V	33	ENSP00000301146:L33V;ENSP00000291764:L33V	ENSP00000291764:L33V	L	-	1	2	CYP2A7	46079859	0.199000	0.23386	0.120000	0.21714	0.169000	0.22640	0.330000	0.19715	-0.471000	0.06891	0.184000	0.17185	CTG	CYP2A7	-	superfamily_Cyt_P450		0.582	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A7	HGNC	protein_coding	OTTHUMT00000463269.2	G	NM_030589		41388019	-1	no_errors	ENST00000301146	ensembl	human	known	70_37	missense	SNP	0.718	C
CYP2C19	1557	genome.wustl.edu	37	10	96522580	96522580	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:96522580G>C	ENST00000371321.3	+	1	200	c.118G>C	c.(118-120)Gga>Cga	p.G40R	CYP2C19_ENST00000464755.1_Intron	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	40					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	CCCAGTGATTGGAAATATCCT	0.443																																																	0													112.0	113.0	112.0					10																	96522580		2203	4300	6503	SO:0001583	missense	1557			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.118G>C	10.37:g.96522580G>C	ENSP00000360372:p.Gly40Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.G40R	ENST00000371321.3	37	c.118	CCDS7436.1	10	.	.	.	.	.	.	.	.	.	.	G	14.01	2.406610	0.42715	.	.	ENSG00000165841	ENST00000371321	T	0.24151	1.87	4.15	4.15	0.48705	.	0.000000	0.64402	U	0.000002	T	0.61110	0.2321	H	0.95365	3.66	0.33239	D	0.556915	D	0.89917	1.0	D	0.97110	1.0	T	0.78929	-0.2010	10	0.87932	D	0	.	11.9638	0.53023	0.0:0.0:1.0:0.0	.	40	P33261	CP2CJ_HUMAN	R	40	ENSP00000360372:G40R	ENSP00000360372:G40R	G	+	1	0	CYP2C19	96512570	1.000000	0.71417	0.922000	0.36590	0.218000	0.24690	4.036000	0.57304	1.851000	0.53745	0.391000	0.25812	GGA	CYP2C19	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.443	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C19	HGNC	protein_coding	OTTHUMT00000049490.1	G	NM_000769		96522580	+1	no_errors	ENST00000371321	ensembl	human	known	70_37	missense	SNP	0.994	C
CYP2E1	1571	genome.wustl.edu	37	10	135345141	135345141	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:135345141G>C	ENST00000463117.2	+	5	662	c.390G>C	c.(388-390)ctG>ctC	p.L130L	AL161645.2_ENST00000599428.1_5'Flank|CYP2E1_ENST00000480558.1_3'UTR|SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Silent_p.L130L			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	130					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.L130L(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GGTTTTCCCTGACCACCCTCC	0.532									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								1	Substitution - coding silent(1)	lung(1)											104.0	103.0	103.0					10																	135345141		2203	4300	6503	SO:0001819	synonymous_variant	1571	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.390G>C	10.37:g.135345141G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VZD5|Q6NWT9|Q9UK47	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.L130	ENST00000463117.2	37	c.390	CCDS7686.1	10																																																																																			CYP2E1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.532	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	HGNC	protein_coding	OTTHUMT00000051161.2	G	NM_000773		135345141	+1	no_errors	ENST00000252945	ensembl	human	known	70_37	silent	SNP	0.958	C
CYP3A5	1577	genome.wustl.edu	37	7	99262807	99262807	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:99262807G>C	ENST00000222982.4	-	7	751	c.652C>G	c.(652-654)Cca>Gca	p.P218A	CYP3A5_ENST00000480723.1_5'Flank|CYP3A5_ENST00000343703.5_Missense_Mutation_p.P208A|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	218					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	AGAAATAATGGATCTAAGAAA	0.343																																																	0													91.0	89.0	90.0					7																	99262807		2203	4300	6503	SO:0001583	missense	1577			L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.652C>G	7.37:g.99262807G>C	ENSP00000222982:p.Pro218Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.P218A	ENST00000222982.4	37	c.652	CCDS5672.1	7	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510542	0.64522	.	.	ENSG00000106258	ENST00000222982;ENST00000343703	T;T	0.67698	-0.28;-0.28	3.84	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.71056	0.3295	L	0.45470	1.425	0.80722	D	1	D;D	0.60575	0.988;0.972	P;P	0.56514	0.8;0.798	T	0.75218	-0.3395	10	0.72032	D	0.01	.	13.6162	0.62110	0.0:0.0:1.0:0.0	.	208;218	F5H4S0;P20815	.;CP3A5_HUMAN	A	218;208	ENSP00000222982:P218A;ENSP00000342969:P208A	ENSP00000222982:P218A	P	-	1	0	CYP3A5	99100743	1.000000	0.71417	0.010000	0.14722	0.003000	0.03518	8.861000	0.92277	1.854000	0.53819	0.655000	0.94253	CCA	CYP3A5	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A		0.343	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A5	HGNC	protein_coding	OTTHUMT00000345469.1	G			99262807	-1	no_errors	ENST00000222982	ensembl	human	known	70_37	missense	SNP	0.951	C
CYP4A22	284541	genome.wustl.edu	37	1	47606478	47606478	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:47606478G>C	ENST00000371891.3	+	2	253	c.222G>C	c.(220-222)cgG>cgC	p.R74R	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Silent_p.R74R|CYP4A22_ENST00000294337.3_Silent_p.R74R	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	74						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCTACAACGGATTCAGGAAC	0.483																																					Pancreas(88;1240 1470 2099 14214 37557)												0													172.0	150.0	158.0					1																	47606478		2203	4300	6503	SO:0001819	synonymous_variant	284541				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.222G>C	1.37:g.47606478G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.R74	ENST00000371891.3	37	c.222	CCDS30707.1	1																																																																																			CYP4A22	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.483	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4A22	HGNC	protein_coding	OTTHUMT00000021635.1	G	XM_208213		47606478	+1	no_errors	ENST00000371891	ensembl	human	known	70_37	silent	SNP	0.000	C
CYP4F3	4051	genome.wustl.edu	37	19	15769098	15769098	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:15769098C>T	ENST00000221307.8	+	10	1187	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	CYP4F3_ENST00000591058.1_Silent_p.F380F|CYP4F3_ENST00000585846.1_Silent_p.F380F|CYP4F3_ENST00000586182.2_Silent_p.F380F	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	380					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AGCTGCCCTTCCTGACCATGT	0.582																																																	0													91.0	93.0	92.0					19																	15769098		2203	4300	6503	SO:0001819	synonymous_variant	4051			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1140C>T	19.37:g.15769098C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z8Z3|O60634|Q5U740	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.F380	ENST00000221307.8	37	c.1140	CCDS12332.1	19																																																																																			CYP4F3	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV		0.582	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP4F3	HGNC	protein_coding	OTTHUMT00000460819.3	C	NM_000896		15769098	+1	no_errors	ENST00000221307	ensembl	human	known	70_37	silent	SNP	1.000	T
CYSLTR2	57105	genome.wustl.edu	37	13	49281162	49281162	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:49281162C>T	ENST00000282018.3	+	1	212	c.209C>T	c.(208-210)tCc>tTc	p.S70F		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	70					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TATAAGAAGTCCACATCTGTG	0.398																																																	0													94.0	93.0	93.0					13																	49281162		2203	4300	6503	SO:0001583	missense	57105			AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.209C>T	13.37:g.49281162C>T	ENSP00000282018:p.Ser70Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HCQ2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_CLT2_recept,prints_Cyst_leuk_rcpt,prints_P2_purnocptor,prints_Protea_act_rcpt	p.S70F	ENST00000282018.3	37	c.209	CCDS9412.1	13	.	.	.	.	.	.	.	.	.	.	C	3.106	-0.183702	0.06340	.	.	ENSG00000152207	ENST00000282018	T	0.37584	1.19	6.08	3.21	0.36854	GPCR, rhodopsin-like superfamily (1);	0.905676	0.09333	N	0.816649	T	0.37100	0.0991	M	0.77313	2.365	0.09310	N	1	B	0.19331	0.035	B	0.20384	0.029	T	0.33727	-0.9857	10	0.35671	T	0.21	.	4.2947	0.10895	0.1996:0.4828:0.242:0.0756	.	70	Q9NS75	CLTR2_HUMAN	F	70	ENSP00000282018:S70F	ENSP00000282018:S70F	S	+	2	0	CYSLTR2	48179163	0.066000	0.20996	0.969000	0.41365	0.037000	0.13140	0.203000	0.17315	1.575000	0.49775	0.655000	0.94253	TCC	CYSLTR2	-	pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Cyst_leuk_rcpt		0.398	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR2	HGNC	protein_coding	OTTHUMT00000044894.1	C			49281162	+1	no_errors	ENST00000282018	ensembl	human	known	70_37	missense	SNP	0.000	T
CYYR1	116159	genome.wustl.edu	37	21	27852628	27852628	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:27852628G>C	ENST00000299340.4	-	3	640	c.297C>G	c.(295-297)ctC>ctG	p.L99L	AP001597.1_ENST00000414486.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000400043.3_Silent_p.L99L	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	99						integral component of membrane (GO:0016021)				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GAGTCGTCCTGAGGATGCCCA	0.498																																																	0													141.0	128.0	132.0					21																	27852628		2203	4300	6503	SO:0001819	synonymous_variant	116159			AY061853	CCDS13578.1	21q21.2	2014-07-04	2005-07-24		ENSG00000166265	ENSG00000166265			16274	protein-coding gene	gene with protein product			"""cysteine and tyrosine-rich 1"""	C21orf95		12036297, 12062809, 24981926	Standard	NM_052954		Approved		uc002ymd.3	Q96J86	OTTHUMG00000078689	ENST00000299340.4:c.297C>G	21.37:g.27852628G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A0A059TD09|A8MTU9|B2R845|Q53ER3|Q5JPD0|Q96NV7|R9QAJ4|W8CQB3	Silent	SNP	pfam_CYYR1	p.L99	ENST00000299340.4	37	c.297	CCDS13578.1	21																																																																																			CYYR1	-	pfam_CYYR1		0.498	CYYR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYYR1	HGNC	protein_coding	OTTHUMT00000171654.2	G	NM_052954		27852628	-1	no_errors	ENST00000299340	ensembl	human	known	70_37	silent	SNP	1.000	C
D2HGDH	728294	genome.wustl.edu	37	2	242695372	242695372	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:242695372G>A	ENST00000321264.4	+	9	1458	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.D283N|AC114730.7_ENST00000417267.1_RNA	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	417					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CATCGTGACTGACCTGCGCGC	0.692																																																	0													96.0	79.0	85.0					2																	242695372		2203	4296	6499	SO:0001583	missense	728294			AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1249G>A	2.37:g.242695372G>A	ENSP00000315351:p.Asp417Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C	p.D417N	ENST00000321264.4	37	c.1249	CCDS33426.1	2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105034	0.77096	.	.	ENSG00000180902	ENST00000321264;ENST00000403782;ENST00000542211	D;D	0.84298	-1.83;-1.83	5.31	5.31	0.75309	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.140827	0.51477	D	0.000082	D	0.89504	0.6734	M	0.83953	2.67	0.80722	D	1	B	0.28636	0.218	B	0.40009	0.316	D	0.87329	0.2323	10	0.33940	T	0.23	2.0E-4	18.9757	0.92735	0.0:0.0:1.0:0.0	.	417	Q8N465	D2HDH_HUMAN	N	417;283;37	ENSP00000315351:D417N;ENSP00000384723:D283N	ENSP00000315351:D417N	D	+	1	0	D2HGDH	242344045	1.000000	0.71417	0.906000	0.35671	0.072000	0.16883	6.819000	0.75262	2.485000	0.83878	0.467000	0.42956	GAC	D2HGDH	-	pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C		0.692	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	D2HGDH	HGNC	protein_coding	OTTHUMT00000322794.2	G	NM_152783		242695372	+1	no_errors	ENST00000321264	ensembl	human	known	70_37	missense	SNP	1.000	A
DAAM1	23002	genome.wustl.edu	37	14	59806896	59806896	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:59806896G>C	ENST00000395125.1	+	16	2126	c.2103G>C	c.(2101-2103)tcG>tcC	p.S701S	DAAM1_ENST00000351081.1_Silent_p.S701S|DAAM1_ENST00000360909.3_Silent_p.S691S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	701	Actin-binding.|FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TCCTTCTATCGAGGTATTGTT	0.383																																																	0													113.0	106.0	109.0					14																	59806896		2203	4300	6503	SO:0001819	synonymous_variant	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2103G>C	14.37:g.59806896G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.S701	ENST00000395125.1	37	c.2103	CCDS9737.1	14																																																																																			DAAM1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.383	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	G	NM_014992		59806896	+1	no_errors	ENST00000351081	ensembl	human	known	70_37	silent	SNP	0.062	C
DAAM2	23500	genome.wustl.edu	37	6	39835530	39835530	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:39835530G>A	ENST00000398904.2	+	6	855	c.673G>A	c.(673-675)Gct>Act	p.A225T	DAAM2_ENST00000274867.4_Missense_Mutation_p.A225T|DAAM2_ENST00000538976.1_Missense_Mutation_p.A225T			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	225	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GATCCTGGGTGCTGTGTGCCT	0.607																																																	0													29.0	31.0	30.0					6																	39835530		2197	4295	6492	SO:0001583	missense	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.673G>A	6.37:g.39835530G>A	ENSP00000381876:p.Ala225Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.A225T	ENST00000398904.2	37	c.673	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.623415	0.96660	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.90504	-2.68;-2.68;-2.68	5.52	5.52	0.82312	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.96147	0.8744	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96558	0.9413	10	0.87932	D	0	.	19.0465	0.93022	0.0:0.0:1.0:0.0	.	225;225	G5EA45;Q86T65	.;DAAM2_HUMAN	T	225	ENSP00000274867:A225T;ENSP00000381876:A225T;ENSP00000437808:A225T	ENSP00000274867:A225T	A	+	1	0	DAAM2	39943508	1.000000	0.71417	0.393000	0.26258	0.987000	0.75469	9.869000	0.99810	2.587000	0.87381	0.561000	0.74099	GCT	DAAM2	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold		0.607	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	G			39835530	+1	no_errors	ENST00000274867	ensembl	human	known	70_37	missense	SNP	1.000	A
DAB2	1601	genome.wustl.edu	37	5	39394478	39394478	+	5'UTR	SNP	G	G	A	rs560501826		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:39394478G>A	ENST00000320816.6	-	0	412				DAB2_ENST00000509337.1_5'UTR|DAB2_ENST00000339788.6_5'UTR|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000545653.1_5'UTR	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)						activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GACACCAGGCGATCCCGATGG	0.493																																																	0													120.0	98.0	105.0					5																	39394478		692	1591	2283	SO:0001623	5_prime_UTR_variant	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.-56C>T	5.37:g.39394478G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NES5|Q13598|Q9BTY0|Q9UK04	RNA	SNP	-	NULL	ENST00000320816.6	37	NULL	CCDS34149.1	5																																																																																			DAB2	-	-		0.493	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAB2	HGNC	protein_coding	OTTHUMT00000367014.1	G	NM_001343		39394478	-1	no_errors	ENST00000513052	ensembl	human	known	70_37	rna	SNP	0.016	A
DACT1	51339	genome.wustl.edu	37	14	59113114	59113114	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:59113114C>G	ENST00000335867.4	+	4	1797	c.1773C>G	c.(1771-1773)ctC>ctG	p.L591L	DACT1_ENST00000395153.3_Silent_p.L554L|DACT1_ENST00000541264.2_Silent_p.L310L|DACT1_ENST00000556859.1_Silent_p.L310L			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	591					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCCCAGCCCTCCAGGGGCTGG	0.612																																																	0													14.0	18.0	17.0					14																	59113114		2199	4297	6496	SO:0001819	synonymous_variant	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1773C>G	14.37:g.59113114C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYJ2|Q86TY0	Silent	SNP	NULL	p.L591	ENST00000335867.4	37	c.1773	CCDS9736.1	14																																																																																			DACT1	-	NULL		0.612	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	HGNC	protein_coding	OTTHUMT00000325515.1	C	NM_016651		59113114	+1	no_errors	ENST00000335867	ensembl	human	known	70_37	silent	SNP	0.000	G
DAO	1610	genome.wustl.edu	37	12	109270566	109270566	+	3'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:109270566G>C	ENST00000548052.1	+	0	225				DAO_ENST00000551281.1_Intron			P14920	OXDA_HUMAN	D-amino-acid oxidase						cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	agctttgattgaacaagagac	0.423																																																	0																																										SO:0001624	3_prime_UTR_variant	1610			D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000548052.1:c.*222G>C	12.37:g.109270566G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7I5|Q16758|Q8N6R2	RNA	SNP	-	NULL	ENST00000548052.1	37	NULL		12																																																																																			DAO	-	-		0.423	DAO-007	KNOWN	basic	processed_transcript	DAO	HGNC	protein_coding	OTTHUMT00000403679.1	G			109270566	+1	no_errors	ENST00000548052	ensembl	human	known	70_37	rna	SNP	0.089	C
DAP3	7818	genome.wustl.edu	37	1	155707959	155707959	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155707959G>C	ENST00000368336.5	+	13	1247	c.1123G>C	c.(1123-1125)Gaa>Caa	p.E375Q	DAP3_ENST00000535183.1_Missense_Mutation_p.E334Q|DAP3_ENST00000343043.3_Missense_Mutation_p.E375Q|DAP3_ENST00000421487.2_Missense_Mutation_p.E341Q|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000471642.2_Missense_Mutation_p.E334Q|MSTO1_ENST00000452804.2_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	375					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TCCTACAGAAGAAGGGAAAAA	0.502																																																	0													114.0	92.0	99.0					1																	155707959		2203	4300	6503	SO:0001583	missense	7818			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.1123G>C	1.37:g.155707959G>C	ENSP00000357320:p.Glu375Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	pfam_Ribosomal_S23/S29_mit,prints_Ribosomal_S29_mit	p.E375Q	ENST00000368336.5	37	c.1123	CCDS1120.1	1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063675	0.55432	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.51325	0.89;0.89;0.71;0.89	4.87	4.87	0.63330	.	0.327128	0.35646	N	0.003069	T	0.60996	0.2312	M	0.80183	2.485	0.54753	D	0.999989	P;P;P;D	0.53745	0.848;0.934;0.848;0.962	P;P;P;P	0.59012	0.791;0.791;0.791;0.85	T	0.63928	-0.6526	10	0.52906	T	0.07	-3.717	17.1	0.86645	0.0:0.0:1.0:0.0	.	334;341;341;375	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	Q	375;375;341;334	ENSP00000357320:E375Q;ENSP00000341692:E375Q;ENSP00000412605:E341Q;ENSP00000445003:E334Q	ENSP00000341692:E375Q	E	+	1	0	DAP3	153974583	1.000000	0.71417	0.459000	0.27081	0.024000	0.10985	6.904000	0.75708	2.665000	0.90641	0.655000	0.94253	GAA	DAP3	-	pfam_Ribosomal_S23/S29_mit		0.502	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1	G	NM_004632		155707959	+1	no_errors	ENST00000343043	ensembl	human	known	70_37	missense	SNP	1.000	C
DAPK3	1613	genome.wustl.edu	37	19	3964264	3964264	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:3964264G>C	ENST00000545797.2	-	4	774	c.531C>G	c.(529-531)atC>atG	p.I177M	DAPK3_ENST00000301264.3_Missense_Mutation_p.I177M|MIR637_ENST00000385000.1_RNA			O43293	DAPK3_HUMAN	death-associated protein kinase 3	177	Activation segment. {ECO:0000250|UniProtKB:O96017}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTGCCGAAGATGTTCTTGA	0.632																																																	0													153.0	106.0	122.0					19																	3964264		2203	4300	6503	SO:0001583	missense	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.531C>G	19.37:g.3964264G>C	ENSP00000442973:p.Ile177Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I177M	ENST00000545797.2	37	c.531	CCDS12116.1	19	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602994	0.46423	.	.	ENSG00000167657	ENST00000301264;ENST00000545797;ENST00000442766	T;T	0.40225	1.04;1.04	5.48	2.16	0.27623	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	N	0.21142	0.635	0.45378	D	0.998365	B	0.30741	0.293	B	0.42319	0.383	T	0.10405	-1.0631	10	0.40728	T	0.16	.	6.8132	0.23817	0.2105:0.0:0.6669:0.1226	.	177	O43293	DAPK3_HUMAN	M	177;177;32	ENSP00000301264:I177M;ENSP00000442973:I177M	ENSP00000301264:I177M	I	-	3	3	DAPK3	3915264	1.000000	0.71417	0.998000	0.56505	0.662000	0.39071	0.779000	0.26746	0.692000	0.31613	0.555000	0.69702	ATC	DAPK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.632	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK3	HGNC	protein_coding	OTTHUMT00000457817.2	G	NM_001348		3964264	-1	no_errors	ENST00000301264	ensembl	human	known	70_37	missense	SNP	1.000	C
DAPK3	1613	genome.wustl.edu	37	19	3964695	3964695	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:3964695G>A	ENST00000545797.2	-	3	600	c.357C>T	c.(355-357)ttC>ttT	p.F119F	DAPK3_ENST00000301264.3_Silent_p.F119F			O43293	DAPK3_HUMAN	death-associated protein kinase 3	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCTTGAGGAACTGGGTGG	0.627																																																	0													123.0	121.0	122.0					19																	3964695		2203	4300	6503	SO:0001819	synonymous_variant	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.357C>T	19.37:g.3964695G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVN4|B3KQE2|Q05JY4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F119	ENST00000545797.2	37	c.357	CCDS12116.1	19																																																																																			DAPK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.627	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK3	HGNC	protein_coding	OTTHUMT00000457817.2	G	NM_001348		3964695	-1	no_errors	ENST00000301264	ensembl	human	known	70_37	silent	SNP	1.000	A
DAPK3	1613	genome.wustl.edu	37	19	3964824	3964824	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:3964824G>A	ENST00000545797.2	-	3	471	c.228C>T	c.(226-228)atC>atT	p.I76I	DAPK3_ENST00000301264.3_Silent_p.I76I			O43293	DAPK3_HUMAN	death-associated protein kinase 3	76	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGGTGATGATGTTGGGGT	0.617																																																	0													122.0	122.0	122.0					19																	3964824		2203	4300	6503	SO:0001819	synonymous_variant	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.228C>T	19.37:g.3964824G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVN4|B3KQE2|Q05JY4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I76	ENST00000545797.2	37	c.228	CCDS12116.1	19																																																																																			DAPK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.617	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK3	HGNC	protein_coding	OTTHUMT00000457817.2	G	NM_001348		3964824	-1	no_errors	ENST00000301264	ensembl	human	known	70_37	silent	SNP	1.000	A
DAPL1	92196	genome.wustl.edu	37	2	159682992	159682992	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:159682992G>C	ENST00000409042.1	+	4	348	c.292G>C	c.(292-294)Gac>Cac	p.D98H				A0PJW8	DAPL1_HUMAN	death associated protein-like 1	0					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)					prostate(1)	1						AAGTGGATTTGACACAAGGTG	0.423																																																	0																																										SO:0001583	missense	92196				CCDS33307.1	2q24	2007-06-26			ENSG00000163331	ENSG00000163331			21490	protein-coding gene	gene with protein product							Standard	NM_001017920		Approved		uc002uaf.3	A0PJW8	OTTHUMG00000153970	ENST00000409042.1:c.292G>C	2.37:g.159682992G>C	ENSP00000386422:p.Asp98His	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJW9|B9EIK6	Missense_Mutation	SNP	NULL	p.D98H	ENST00000409042.1	37	c.292		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.621|0.621	-0.821300|-0.821300	0.02755|0.02755	.|.	.|.	ENSG00000163331|ENSG00000163331	ENST00000409042|ENST00000343761	T|.	0.32272|.	1.46|.	2.37|2.37	0.431|0.431	0.16523|0.16523	.|.	.|.	.|.	.|.	.|.	T|.	0.21674|.	0.0522|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22800|.	-1.0206|.	6|.	0.87932|.	D|.	0|.	.|.	2.8169|2.8169	0.05458|0.05458	0.1642:0.0:0.5366:0.2992|0.1642:0.0:0.5366:0.2992	.|.	.|.	.|.	.|.	H|S	98|73	ENSP00000386422:D98H|.	ENSP00000386422:D98H|.	D|X	+|+	1|2	0|2	DAPL1|DAPL1	159391238|159391238	0.019000|0.019000	0.18553|0.18553	0.029000|0.029000	0.17559|0.17559	0.015000|0.015000	0.08874|0.08874	-0.107000|-0.107000	0.10873|0.10873	0.091000|0.091000	0.17302|0.17302	-0.391000|-0.391000	0.06502|0.06502	GAC|TGA	DAPL1	-	NULL		0.423	DAPL1-002	PUTATIVE	basic	protein_coding	DAPL1	HGNC	protein_coding	OTTHUMT00000333266.1	G	NM_001017920		159682992	+1	no_errors	ENST00000409042	ensembl	human	putative	70_37	missense	SNP	0.046	C
DAXX	1616	genome.wustl.edu	37	6	33286832	33286832	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:33286832G>A	ENST00000374542.5	-	7	2309	c.2105C>T	c.(2104-2106)tCt>tTt	p.S702F	ZBTB22_ENST00000418724.1_5'Flank|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000266000.6_Missense_Mutation_p.S702F|DAXX_ENST00000414083.2_Missense_Mutation_p.S627F|DAXX_ENST00000477162.1_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	702	Interaction with SPOP.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CCGGGCTGGAGAAGGGATGCA	0.602			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																			Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0													71.0	79.0	76.0					6																	33286832		2203	4300	6503	SO:0001583	missense	1616			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.2105C>T	6.37:g.33286832G>A	ENSP00000363668:p.Ser702Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	pfam_Daxx	p.S702F	ENST00000374542.5	37	c.2105	CCDS4776.1	6	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684130	0.29872	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	5.26	-0.0403	0.13872	.	0.758230	0.11580	N	0.549879	T	0.12050	0.0293	L	0.44542	1.39	0.18873	N	0.999982	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.28554	-1.0040	9	0.62326	D	0.03	1.581	1.2756	0.02030	0.2593:0.1495:0.438:0.1532	.	714;702	B4E1C1;Q9UER7	.;DAXX_HUMAN	F	702;702;627	.	ENSP00000266000:S702F	S	-	2	0	DAXX	33394810	0.314000	0.24563	0.489000	0.27452	0.784000	0.44337	-0.261000	0.08694	0.061000	0.16311	0.643000	0.83706	TCT	DAXX	-	pfam_Daxx		0.602	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAXX	HGNC	protein_coding	OTTHUMT00000076403.1	G			33286832	-1	no_errors	ENST00000266000	ensembl	human	known	70_37	missense	SNP	0.196	A
DAXX	1616	genome.wustl.edu	37	6	33289038	33289038	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:33289038C>T	ENST00000374542.5	-	3	718	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	DAXX_ENST00000266000.6_Missense_Mutation_p.E172K|DAXX_ENST00000414083.2_Missense_Mutation_p.E97K|DAXX_ENST00000477162.1_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	172					activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCAGTGTTTTCAGCATTTGTG	0.597			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																			Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0													70.0	71.0	71.0					6																	33289038		2203	4300	6503	SO:0001583	missense	1616			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.514G>A	6.37:g.33289038C>T	ENSP00000363668:p.Glu172Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	pfam_Daxx	p.E172K	ENST00000374542.5	37	c.514	CCDS4776.1	6	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470848	0.43942	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083;ENST00000446403	.	.	.	5.1	3.27	0.37495	.	0.219803	0.46145	D	0.000316	T	0.27098	0.0664	M	0.79926	2.475	0.09310	N	1	B;B;B	0.30634	0.288;0.163;0.163	B;B;B	0.30105	0.111;0.111;0.111	T	0.11494	-1.0585	9	0.26408	T	0.33	-5.314	7.8173	0.29267	0.0:0.8064:0.0:0.1936	.	184;172;172	B4E1C1;B2R7M0;Q9UER7	.;.;DAXX_HUMAN	K	172;172;97;172	.	ENSP00000266000:E172K	E	-	1	0	DAXX	33397016	0.002000	0.14202	0.004000	0.12327	0.994000	0.84299	0.710000	0.25748	1.376000	0.46267	0.643000	0.83706	GAA	DAXX	-	pfam_Daxx		0.597	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAXX	HGNC	protein_coding	OTTHUMT00000076403.1	C			33289038	-1	no_errors	ENST00000266000	ensembl	human	known	70_37	missense	SNP	0.002	T
DAZL	1618	genome.wustl.edu	37	3	16633616	16633616	+	Missense_Mutation	SNP	G	G	C	rs560183588		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:16633616G>C	ENST00000399444.2	-	10	1068	c.775C>G	c.(775-777)Ctg>Gtg	p.L259V	DAZL_ENST00000250863.8_Missense_Mutation_p.L279V	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	259					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						GGATTAAACAGACAAGATACC	0.378																																																	0													240.0	242.0	241.0					3																	16633616		2203	4300	6503	SO:0001583	missense	1618			BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"""RNA binding motif (RRM) containing"""	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.775C>G	3.37:g.16633616G>C	ENSP00000382373:p.Leu259Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O15396|Q5HYB4|Q92909	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L259V	ENST00000399444.2	37	c.775	CCDS43059.1	3	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967907	0.53507	.	.	ENSG00000092345	ENST00000250863;ENST00000399444	T;T	0.28895	1.59;1.61	5.19	3.11	0.35812	.	0.450726	0.22159	N	0.063802	T	0.41926	0.1180	M	0.76574	2.34	0.32802	D	0.50021	D;D	0.59767	0.986;0.986	P;P	0.56042	0.682;0.79	T	0.51545	-0.8692	10	0.15499	T	0.54	-2.7868	8.772	0.34737	0.2393:0.0:0.7607:0.0	.	259;279	Q92904;Q5HYB4	DAZL_HUMAN;.	V	279;259	ENSP00000250863:L279V;ENSP00000382373:L259V	ENSP00000250863:L279V	L	-	1	2	DAZL	16608620	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	2.543000	0.45752	1.174000	0.42811	0.561000	0.74099	CTG	DAZL	-	NULL		0.378	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZL	HGNC	protein_coding	OTTHUMT00000347261.2	G	NM_001351		16633616	-1	no_errors	ENST00000399444	ensembl	human	known	70_37	missense	SNP	0.998	C
DBF4	10926	genome.wustl.edu	37	7	87537145	87537145	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:87537145G>C	ENST00000265728.1	+	12	2196	c.1692G>C	c.(1690-1692)aaG>aaC	p.K564N		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	564					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GTGACTTCAAGAATATGGATA	0.363																																																	0													73.0	77.0	76.0					7																	87537145		2201	4290	6491	SO:0001583	missense	10926			AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1692G>C	7.37:g.87537145G>C	ENSP00000265728:p.Lys564Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF	p.K564N	ENST00000265728.1	37	c.1692	CCDS5611.1	7	.	.	.	.	.	.	.	.	.	.	G	4.119	0.020275	0.08006	.	.	ENSG00000006634	ENST00000265728	T	0.29655	1.56	4.9	0.0232	0.14136	.	0.904429	0.09518	N	0.791280	T	0.19208	0.0461	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.34304	-0.9834	10	0.13853	T	0.58	-0.0862	6.8743	0.24139	0.2204:0.5432:0.2364:0.0	.	340;564	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	N	564	ENSP00000265728:K564N	ENSP00000265728:K564N	K	+	3	2	DBF4	87375081	0.004000	0.15560	0.001000	0.08648	0.973000	0.67179	0.525000	0.22956	0.087000	0.17167	0.650000	0.86243	AAG	DBF4	-	NULL		0.363	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBF4	HGNC	protein_coding	OTTHUMT00000253678.1	G	NM_006716		87537145	+1	no_errors	ENST00000265728	ensembl	human	known	70_37	missense	SNP	0.000	C
DBF4B	80174	genome.wustl.edu	37	17	42786153	42786153	+	5'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:42786153G>A	ENST00000315005.3	+	0	103				DBF4B_ENST00000398338.3_5'UTR|DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000393547.2_5'UTR	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B						cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				GGCCTCTGAGGAAGGAGTACG	0.562																																																	0													27.0	24.0	25.0					17																	42786153		2069	3997	6066	SO:0001623	5_prime_UTR_variant	80174			AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.-36G>A	17.37:g.42786153G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DX56|Q8TEX0|Q96B19|Q9H912	RNA	SNP	-	NULL	ENST00000315005.3	37	NULL	CCDS11485.1	17																																																																																			DBF4B	-	-		0.562	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DBF4B	HGNC	protein_coding	OTTHUMT00000385930.1	G	NM_025104		42786153	+1	no_errors	ENST00000526915	ensembl	human	known	70_37	rna	SNP	0.503	A
DBI	1622	genome.wustl.edu	37	2	120124915	120124915	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:120124915G>A	ENST00000355857.3	+	1	140				DBI_ENST00000535757.1_Intron|C2orf76_ENST00000409877.1_5'Flank|C2orf76_ENST00000409466.2_5'Flank|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000409094.1_Intron|C2orf76_ENST00000334816.7_5'Flank|C2orf76_ENST00000498049.1_5'Flank|C2orf76_ENST00000409523.1_5'Flank|DBI_ENST00000542275.1_Start_Codon_SNP_p.M1I|DBI_ENST00000393103.2_5'Flank|DBI_ENST00000535617.1_Intron|DBI_ENST00000311521.4_Intron	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)						hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						GGTGCTTGATGGAGAGATGGG	0.627																																																	0																																										SO:0001627	intron_variant	1622			L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"""endozepine"""	125950	"""diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"""			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.9+279G>A	2.37:g.120124915G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.M1I	ENST00000355857.3	37	c.3	CCDS42740.1	2	.	.	.	.	.	.	.	.	.	.	G	7.753	0.703706	0.15172	.	.	ENSG00000155368	ENST00000542275	T	0.18657	2.2	3.84	-2.57	0.06248	.	.	.	.	.	T	0.23210	0.0561	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.37686	-0.9695	6	0.87932	D	0	.	9.2287	0.37423	0.4175:0.0:0.5825:0.0	.	.	.	.	I	1	ENSP00000440698:M1I	ENSP00000440698:M1I	M	+	3	0	DBI	119841385	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.266000	0.18534	-0.519000	0.06444	-0.469000	0.05056	ATG	DBI	-	NULL		0.627	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBI	HGNC	protein_coding	OTTHUMT00000330590.1	G	NM_020548		120124915	+1	no_errors	ENST00000542275	ensembl	human	known	70_37	missense	SNP	0.000	A
DCAF4L1	285429	genome.wustl.edu	37	4	41984210	41984210	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:41984210C>T	ENST00000333141.5	+	1	498	c.401C>T	c.(400-402)tCg>tTg	p.S134L		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	134										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TGCTGGGCCTCGCTGAACCAG	0.557																																																	0													106.0	100.0	102.0					4																	41984210		2203	4300	6503	SO:0001583	missense	285429			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.401C>T	4.37:g.41984210C>T	ENSP00000327796:p.Ser134Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S134L	ENST00000333141.5	37	c.401	CCDS33978.1	4	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169313	0.57584	.	.	ENSG00000182308	ENST00000333141	T	0.72167	-0.63	0.688	0.688	0.18027	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76456	0.3990	M	0.71581	2.175	0.41596	D	0.988826	D	0.61697	0.99	P	0.56474	0.799	T	0.79237	-0.1886	9	0.87932	D	0	.	.	.	.	.	134	Q3SXM0	DC4L1_HUMAN	L	134	ENSP00000327796:S134L	ENSP00000327796:S134L	S	+	2	0	DCAF4L1	41678967	1.000000	0.71417	0.921000	0.36526	0.545000	0.35147	4.398000	0.59697	0.635000	0.30488	0.313000	0.20887	TCG	DCAF4L1	-	superfamily_WD40_repeat_dom		0.557	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L1	HGNC	protein_coding	OTTHUMT00000360958.1	C	NM_001029955		41984210	+1	no_errors	ENST00000333141	ensembl	human	known	70_37	missense	SNP	1.000	T
DCAF5	8816	genome.wustl.edu	37	14	69521200	69521200	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:69521200C>G	ENST00000341516.5	-	9	2350	c.2203G>C	c.(2203-2205)Gaa>Caa	p.E735Q	DCAF5_ENST00000557386.1_Missense_Mutation_p.E734Q|DCAF5_ENST00000556847.1_Missense_Mutation_p.E653Q|DCAF5_ENST00000554215.1_Missense_Mutation_p.E653Q|DCAF5_ENST00000553293.1_5'Flank	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	735					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GGAGTCTCTTCTTTAAAAGTG	0.557																																																	0													85.0	90.0	88.0					14																	69521200		2203	4300	6503	SO:0001583	missense	8816			AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2203G>C	14.37:g.69521200C>G	ENSP00000341351:p.Glu735Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E735Q	ENST00000341516.5	37	c.2203	CCDS32106.1	14	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520808	0.27211	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.72051	-0.62;-0.45;-0.45;0.01	4.89	4.89	0.63831	.	0.164886	0.42420	D	0.000709	T	0.71484	0.3345	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.77993	-0.2378	10	0.54805	T	0.06	-15.9222	18.2291	0.89928	0.0:1.0:0.0:0.0	.	734;735	G3V4J7;Q96JK2	.;DCAF5_HUMAN	Q	735;653;653;734	ENSP00000341351:E735Q;ENSP00000451551:E653Q;ENSP00000452052:E653Q;ENSP00000451845:E734Q	ENSP00000341351:E735Q	E	-	1	0	DCAF5	68590953	1.000000	0.71417	0.993000	0.49108	0.319000	0.28217	3.635000	0.54309	2.533000	0.85409	0.561000	0.74099	GAA	DCAF5	-	NULL		0.557	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF5	HGNC	protein_coding	OTTHUMT00000414806.2	C	NM_003861		69521200	-1	no_errors	ENST00000341516	ensembl	human	known	70_37	missense	SNP	1.000	G
DCAF8	50717	genome.wustl.edu	37	1	160188831	160188831	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:160188831G>A	ENST00000368073.3	-	12	1875				DCAF8_ENST00000556710.1_Intron|DCAF8_ENST00000326837.2_Intron|DCAF8_ENST00000368074.1_Intron|DCAF8_ENST00000608310.1_Intron			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TACTCACCTTGAGCCAAATAA	0.542																																																	0																																										SO:0001627	intron_variant	50717			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.1441-73C>T	1.37:g.160188831G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	RNA	SNP	-	NULL	ENST00000368073.3	37	NULL	CCDS1200.1	1																																																																																			DCAF8	-	-		0.542	DCAF8-001	KNOWN	basic|CCDS	protein_coding	DCAF8	HGNC	protein_coding	OTTHUMT00000077402.2	G	NM_015726		160188831	-1	no_errors	ENST00000476033	ensembl	human	known	70_37	rna	SNP	0.005	A
DCAF8	50717	genome.wustl.edu	37	1	160208574	160208574	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:160208574G>C	ENST00000368073.3	-	5	1158				DCAF8_ENST00000556710.1_Intron|DCAF8_ENST00000326837.2_Intron|DCAF8_ENST00000368074.1_Intron|DCAF8_ENST00000608310.1_Intron			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						ACACACAAAAGAAATGAGAGA	0.423																																																	0													28.0	30.0	29.0					1																	160208574		2202	4300	6502	SO:0001627	intron_variant	50717			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.724-37C>G	1.37:g.160208574G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	RNA	SNP	-	NULL	ENST00000368073.3	37	NULL	CCDS1200.1	1																																																																																			DCAF8	-	-		0.423	DCAF8-001	KNOWN	basic|CCDS	protein_coding	DCAF8	HGNC	protein_coding	OTTHUMT00000077402.2	G	NM_015726		160208574	-1	no_errors	ENST00000466253	ensembl	human	known	70_37	rna	SNP	1.000	C
DCAF8L1	139425	genome.wustl.edu	37	X	27997787	27997787	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:27997787C>G	ENST00000441525.1	-	1	1779	c.1665G>C	c.(1663-1665)ctG>ctC	p.L555L		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	555										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTCTCTGTAACAGGTGACGCA	0.488																																																	0													164.0	130.0	141.0					X																	27997787		2202	4300	6502	SO:0001819	synonymous_variant	139425				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1665G>C	X.37:g.27997787C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXX1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L555	ENST00000441525.1	37	c.1665	CCDS35222.1	X																																																																																			DCAF8L1	-	NULL		0.488	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L1	HGNC	protein_coding	OTTHUMT00000056150.2	C	XM_066690		27997787	-1	no_errors	ENST00000441525	ensembl	human	known	70_37	silent	SNP	0.070	G
DCHS1	8642	genome.wustl.edu	37	11	6643167	6643167	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:6643167G>A	ENST00000299441.3	-	21	10151	c.9740C>T	c.(9739-9741)tCa>tTa	p.S3247L	TPP1_ENST00000299427.6_5'Flank|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000528657.1_5'Flank|TPP1_ENST00000534644.1_5'Flank|TPP1_ENST00000533371.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3247					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S3247L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGCAGCTGAGGACAGGGA	0.632																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											61.0	56.0	58.0					11																	6643167		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9740C>T	11.37:g.6643167G>A	ENSP00000299441:p.Ser3247Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S3247L	ENST00000299441.3	37	c.9740	CCDS7771.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.077860|4.077860	0.76528|0.76528	.|.	.|.	ENSG00000166341|ENSG00000166341	ENST00000442153|ENST00000299441	.|T	.|0.59772	.|0.24	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.35805	.|N	.|0.002976	.|T	.|0.75759	.|0.3893	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.63488	.|0.915	.|T	.|0.78831	.|-0.2049	.|10	0.87932|0.59425	D|D	0|0.04	.|.	17.0523|17.0523	0.86523|0.86523	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3247	.|Q96JQ0	.|PCD16_HUMAN	X|L	7|3247	.|ENSP00000299441:S3247L	ENSP00000390601:Q7X|ENSP00000299441:S3247L	Q|S	-|-	1|2	0|0	DCHS1|DCHS1	6599743|6599743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.559000|9.559000	0.98135|0.98135	2.595000|2.595000	0.87683|0.87683	0.462000|0.462000	0.41574|0.41574	CAG|TCA	DCHS1	-	NULL		0.632	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	G	NM_003737		6643167	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	missense	SNP	1.000	A
DCT	1638	genome.wustl.edu	37	13	95095789	95095789	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:95095789G>A	ENST00000377028.5	-	7	1695	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	DCT_ENST00000446125.1_Missense_Mutation_p.R461W	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	428					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TTGTACATCCGATTGTGACCA	0.463																																																	0													107.0	99.0	102.0					13																	95095789		2203	4300	6503	SO:0001583	missense	1638			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1282C>T	13.37:g.95095789G>A	ENSP00000366227:p.Arg428Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q09GT4	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.R461W	ENST00000377028.5	37	c.1381	CCDS9470.1	13	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954040	0.53293	.	.	ENSG00000080166	ENST00000377021;ENST00000377028;ENST00000446125	D;D	0.99382	-5.21;-5.8	5.86	4.11	0.48088	Uncharacterised domain, di-copper centre (2);	0.054407	0.64402	D	0.000001	D	0.99453	0.9806	M	0.88640	2.97	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;P	0.83275	0.996;0.908	D	0.98550	1.0636	10	0.87932	D	0	-16.7575	15.2849	0.73819	0.0:0.0:0.6362:0.3638	.	461;428	Q09GT4;P40126	.;TYRP2_HUMAN	W	35;428;461	ENSP00000366227:R428W;ENSP00000392762:R461W	ENSP00000366220:R35W	R	-	1	2	DCT	93893790	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	1.680000	0.37607	0.786000	0.33708	-0.188000	0.12872	CGG	DCT	-	superfamily_Unchr_di-copper_centre		0.463	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	HGNC	protein_coding	OTTHUMT00000045461.3	G			95095789	-1	no_errors	ENST00000446125	ensembl	human	known	70_37	missense	SNP	1.000	A
DDIT4	54541	genome.wustl.edu	37	10	74033756	74033756	+	5'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:74033756C>T	ENST00000307365.3	+	0	79				RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4						brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GGCACGGGTTCGCACACCCAT	0.662																																																	0																																										SO:0001623	5_prime_UTR_variant	54541			AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"""HIF-1 responsive RTP801"""	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.-123C>T	10.37:g.74033756C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H0S3	RNA	SNP	-	NULL	ENST00000307365.3	37	NULL	CCDS7315.1	10																																																																																			DDIT4	-	-		0.662	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDIT4	HGNC	protein_coding	OTTHUMT00000048577.1	C	NM_019058		74033756	+1	no_errors	ENST00000473155	ensembl	human	known	70_37	rna	SNP	0.666	T
DDR1	780	genome.wustl.edu	37	6	30866975	30866975	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:30866975G>A	ENST00000324771.8	+	20	3192	c.2644G>A	c.(2644-2646)Gag>Aag	p.E882K	DDR1_ENST00000454612.2_Missense_Mutation_p.E845K|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000418800.2_Missense_Mutation_p.E845K|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000513240.1_Missense_Mutation_p.E888K|DDR1_ENST00000452441.1_Missense_Mutation_p.E882K|DDR1_ENST00000508312.1_Missense_Mutation_p.E863K|DDR1_ENST00000376575.3_Missense_Mutation_p.E888K|DDR1_ENST00000376568.3_Missense_Mutation_p.E882K|DDR1_ENST00000376567.2_Missense_Mutation_p.E845K|DDR1_ENST00000376570.4_Missense_Mutation_p.E845K|DDR1_ENST00000376569.3_Missense_Mutation_p.E845K			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	882	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGGCCTATATGAGCTGATGCT	0.567																																																	0													108.0	103.0	104.0					6																	30866975		2203	4300	6503	SO:0001583	missense	780			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2644G>A	6.37:g.30866975G>A	ENSP00000318217:p.Glu882Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E888K	ENST00000324771.8	37	c.2662	CCDS34385.1	6	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551931	0.27739	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240	D;D;D;D;D;D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	5.14	4.28	0.50868	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84097	0.5397	N	0.21508	0.67	0.80722	D	1	D;B;D	0.76494	0.999;0.069;0.999	D;B;D	0.83275	0.995;0.155;0.996	T	0.81876	-0.0731	10	0.17369	T	0.5	.	11.4067	0.49902	0.0883:0.0:0.9117:0.0	.	863;888;882	B7Z2K0;Q08345-5;Q08345	.;.;DDR1_HUMAN	K	882;845;845;845;888;845;882;882;863;845;888	ENSP00000318217:E882K;ENSP00000407699:E845K;ENSP00000406091:E845K;ENSP00000365753:E845K;ENSP00000365759:E888K;ENSP00000365754:E845K;ENSP00000365752:E882K;ENSP00000405039:E882K;ENSP00000422442:E863K;ENSP00000365751:E845K;ENSP00000427552:E888K	ENSP00000318217:E882K	E	+	1	0	DDR1	30974954	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.611000	0.61162	1.174000	0.42811	0.460000	0.39030	GAG	DDR1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.567	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DDR1	HGNC	protein_coding	OTTHUMT00000076494.3	G	NM_013994		30866975	+1	no_errors	ENST00000376575	ensembl	human	known	70_37	missense	SNP	1.000	A
DDX20	11218	genome.wustl.edu	37	1	112303677	112303677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:112303677C>T	ENST00000369702.4	+	6	1512	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	DDX20_ENST00000475700.1_5'UTR|DDX20_ENST00000536167.1_3'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	298					ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAAAAGACTCAGCATTTACA	0.348																																																	0													139.0	143.0	141.0					1																	112303677		2203	4299	6502	SO:0001587	stop_gained	11218			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.892C>T	1.37:g.112303677C>T	ENSP00000358716:p.Gln298*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Q298*	ENST00000369702.4	37	c.892	CCDS842.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.213104	0.99360	.	.	ENSG00000064703	ENST00000369702	.	.	.	5.62	4.65	0.58169	.	0.181706	0.49305	D	0.000157	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-6.1045	10.4205	0.44348	0.1322:0.6364:0.2314:0.0	.	.	.	.	X	298	.	ENSP00000358716:Q298X	Q	+	1	0	DDX20	112105200	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.524000	0.53495	2.663000	0.90544	0.561000	0.74099	CAG	DDX20	-	NULL		0.348	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX20	HGNC	protein_coding	OTTHUMT00000033063.2	C	NM_007204		112303677	+1	no_errors	ENST00000369702	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DDX46	9879	genome.wustl.edu	37	5	134116909	134116909	+	Silent	SNP	G	G	A	rs199916851		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:134116909G>A	ENST00000354283.4	+	7	987	c.852G>A	c.(850-852)ctG>ctA	p.L284L	DDX46_ENST00000452510.2_Silent_p.L284L			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	284					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGGTGAGCTGATGGAGAATG	0.378																																					Colon(13;391 453 4901 21675 24897)												0													100.0	104.0	103.0					5																	134116909		2203	4300	6503	SO:0001819	synonymous_variant	9879				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.852G>A	5.37:g.134116909G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O94894|Q96EI0|Q9Y658	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L284	ENST00000354283.4	37	c.852	CCDS34240.1	5																																																																																			DDX46	-	NULL		0.378	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX46	HGNC	protein_coding	OTTHUMT00000371584.1	G	NM_014829		134116909	+1	no_errors	ENST00000452510	ensembl	human	known	70_37	silent	SNP	1.000	A
DDX5	1655	genome.wustl.edu	37	17	62496313	62496313	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:62496313C>G	ENST00000225792.5	-	13	1974	c.1573G>C	c.(1573-1575)Gat>Cat	p.D525H	DDX5_ENST00000450599.2_Missense_Mutation_p.D446H|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000580026.1_5'UTR|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000578804.1_Missense_Mutation_p.D525H	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	525	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GCCCCAAAATCTCTTTTAAGC	0.428			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)			Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													131.0	137.0	135.0					17																	62496313		2203	4300	6503	SO:0001583	missense	1655			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1573G>C	17.37:g.62496313C>G	ENSP00000225792:p.Asp525His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D525H	ENST00000225792.5	37	c.1573	CCDS11659.1	17	.	.	.	.	.	.	.	.	.	.	C	6.794	0.515474	0.12944	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.45	5.45	0.79879	.	0.886082	0.10244	N	0.697972	T	0.49864	0.1582	N	0.14661	0.345	0.53688	D	0.999978	D;D;D	0.55800	0.973;0.958;0.958	P;P;P	0.49561	0.615;0.477;0.477	T	0.52200	-0.8607	9	0.34782	T	0.22	-19.8945	19.6512	0.95812	0.0:1.0:0.0:0.0	.	446;525;525	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	H	525;455;514	.	ENSP00000225792:D514H	D	-	1	0	DDX5	59926775	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.418000	0.66429	2.712000	0.92718	0.591000	0.81541	GAT	DDX5	-	pfam_P68HR		0.428	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX5	HGNC	protein_coding	OTTHUMT00000444030.1	C	NM_004396		62496313	-1	no_errors	ENST00000225792	ensembl	human	known	70_37	missense	SNP	1.000	G
DDX59	83479	genome.wustl.edu	37	1	200635689	200635689	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:200635689G>A	ENST00000331314.6	-	2	393	c.180C>T	c.(178-180)tgC>tgT	p.C60C	DDX59_ENST00000367348.3_Silent_p.C60C|RP11-92G12.3_ENST00000568695.1_lincRNA|DDX59_ENST00000447706.2_Silent_p.C60C	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	60						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TGGGGAAAGGGCATGATTCGC	0.532																																																	0													153.0	135.0	141.0					1																	200635689		2203	4300	6503	SO:0001819	synonymous_variant	83479			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.180C>T	1.37:g.200635689G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PJL2|Q8IVW3|Q9H0W3	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.C60	ENST00000331314.6	37	c.180	CCDS30964.1	1																																																																																			DDX59	-	NULL		0.532	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX59	HGNC	protein_coding	OTTHUMT00000086883.2	G	NM_001031725.4		200635689	-1	no_errors	ENST00000331314	ensembl	human	known	70_37	silent	SNP	0.003	A
DEFB123	245936	genome.wustl.edu	37	20	30028540	30028540	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:30028540C>G	ENST00000376309.3	+	1	219	c.39C>G	c.(37-39)ctC>ctG	p.L13L		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	13					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGCTGCTGCTCTTATCCCAGC	0.537																																																	0													351.0	313.0	326.0					20																	30028540		2203	4300	6503	SO:0001819	synonymous_variant	245936			AA933749	CCDS13180.1	20q11.1	2008-07-17			ENSG00000180424	ENSG00000180424		"""Defensins, beta"""	18103	protein-coding gene	gene with protein product	"""beta defensin 23"""					11854508	Standard	NM_153324		Approved	DEFB-23	uc002wvy.3	Q8N688	OTTHUMG00000032170	ENST00000376309.3:c.39C>G	20.37:g.30028540C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L13	ENST00000376309.3	37	c.39	CCDS13180.1	20																																																																																			DEFB123	-	NULL		0.537	DEFB123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB123	HGNC	protein_coding	OTTHUMT00000078510.2	C	NM_153324		30028540	+1	no_errors	ENST00000376309	ensembl	human	known	70_37	silent	SNP	0.998	G
DENND3	22898	genome.wustl.edu	37	8	142200469	142200469	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:142200469G>A	ENST00000262585.2	+	20	3370	c.3092G>A	c.(3091-3093)cGa>cAa	p.R1031Q	DENND3_ENST00000424248.1_Missense_Mutation_p.R979Q|DENND3_ENST00000523308.1_Missense_Mutation_p.R81Q|DENND3_ENST00000519811.1_Missense_Mutation_p.R1111Q	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1031					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCTGCCGCGAGGTGGCCTG	0.642																																																	0													51.0	47.0	48.0					8																	142200469		2203	4300	6503	SO:0001583	missense	22898			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.3092G>A	8.37:g.142200469G>A	ENSP00000262585:p.Arg1031Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom	p.R1031Q	ENST00000262585.2	37	c.3092	CCDS34947.1	8	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581554	0.28180	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811;ENST00000523308	T;T;T;T	0.35605	1.61;1.61;1.61;1.3	5.31	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.631472	0.19019	N	0.124864	T	0.18383	0.0441	N	0.08118	0	0.09310	N	1	B;P;B	0.44690	0.014;0.841;0.014	B;B;B	0.36186	0.001;0.219;0.0	T	0.04115	-1.0976	10	0.35671	T	0.21	-27.0546	13.0421	0.58906	0.0791:0.0:0.9209:0.0	.	1111;81;1031	E9PF32;A2RUS2-3;A2RUS2	.;.;DEND3_HUMAN	Q	1031;979;1111;81	ENSP00000262585:R1031Q;ENSP00000410594:R979Q;ENSP00000428714:R1111Q;ENSP00000430912:R81Q	ENSP00000262585:R1031Q	R	+	2	0	DENND3	142269651	0.921000	0.31238	0.002000	0.10522	0.002000	0.02628	5.431000	0.66507	1.203000	0.43233	0.313000	0.20887	CGA	DENND3	-	superfamily_WD40_repeat_dom		0.642	DENND3-201	KNOWN	basic|CCDS	protein_coding	DENND3	HGNC	protein_coding		G	NM_014957		142200469	+1	no_errors	ENST00000262585	ensembl	human	known	70_37	missense	SNP	0.153	A
DENND4A	10260	genome.wustl.edu	37	15	65994801	65994801	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:65994801G>C	ENST00000431932.2	-	17	2480	c.2272C>G	c.(2272-2274)Cag>Gag	p.Q758E	DENND4A_ENST00000443035.3_Missense_Mutation_p.Q758E	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	758					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GACCACATCTGAGGGATGGAA	0.383																																																	0													78.0	70.0	72.0					15																	65994801		1844	4099	5943	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.2272C>G	15.37:g.65994801G>C	ENSP00000396830:p.Gln758Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.Q758E	ENST00000431932.2	37	c.2272	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597091	0.28445	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.04654	3.59;3.58	5.78	5.78	0.91487	.	0.265301	0.45606	D	0.000357	T	0.08492	0.0211	N	0.11651	0.15	0.80722	D	1	D;D	0.71674	0.998;0.986	D;D	0.75484	0.986;0.965	T	0.31194	-0.9952	10	0.02654	T	1	.	19.9918	0.97368	0.0:0.0:1.0:0.0	.	758;758	E7EPL3;Q7Z401	.;MYCPP_HUMAN	E	758	ENSP00000391167:Q758E;ENSP00000396830:Q758E	ENSP00000396830:Q758E	Q	-	1	0	DENND4A	63781855	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.863000	0.87023	2.728000	0.93425	0.585000	0.79938	CAG	DENND4A	-	NULL		0.383	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1	G	NM_005848		65994801	-1	no_errors	ENST00000443035	ensembl	human	known	70_37	missense	SNP	1.000	C
DEPDC4	120863	genome.wustl.edu	37	12	100657593	100657593	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:100657593C>G	ENST00000416321.1	-	2	238	c.236G>C	c.(235-237)aGa>aCa	p.R79T		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	79	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						ATGCCTCCTTCTTTTTATTTC	0.398																																																	0													139.0	130.0	133.0					12																	100657593		2203	4300	6503	SO:0001583	missense	120863			AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.236G>C	12.37:g.100657593C>G	ENSP00000396234:p.Arg79Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q496C8|Q96BW0	Missense_Mutation	SNP	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.R79T	ENST00000416321.1	37	c.236	CCDS9075.1	12	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137419	0.56936	.	.	ENSG00000166153	ENST00000422147;ENST00000416321;ENST00000550587;ENST00000551642	T;T;T	0.12984	2.63;2.63;2.63	4.65	2.82	0.32997	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	.	.	.	.	T	0.24928	0.0605	M	0.67397	2.05	0.24340	N	0.994966	P;P	0.49307	0.922;0.922	P;P	0.52386	0.697;0.533	T	0.05178	-1.0901	9	0.51188	T	0.08	.	9.7138	0.40263	0.0:0.8272:0.0:0.1728	.	79;79	E9PGM3;Q8N2C3	.;DEPD4_HUMAN	T	79;79;79;72	ENSP00000396234:R79T;ENSP00000448385:R79T;ENSP00000449590:R72T	ENSP00000367490:R79T	R	-	2	0	DEPDC4	99181724	0.524000	0.26282	0.491000	0.27477	0.754000	0.42855	0.675000	0.25232	0.408000	0.25621	-0.259000	0.10710	AGA	DEPDC4	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom		0.398	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC4	HGNC	protein_coding	OTTHUMT00000408482.1	C	NM_152317		100657593	-1	no_errors	ENST00000378244	ensembl	human	known	70_37	missense	SNP	0.998	G
DERL3	91319	genome.wustl.edu	37	22	24180756	24180756	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:24180756G>C	ENST00000318109.7	-	3	244	c.228C>G	c.(226-228)ctC>ctG	p.L76L	DERL3_ENST00000476077.1_Silent_p.L76L|DERL3_ENST00000404056.1_Missense_Mutation_p.L81V|DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000406855.3_Silent_p.L76L			Q96Q80	DERL3_HUMAN	derlin 3	76					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						GATACACGAAGAGCATGTTGA	0.682																																																	0													23.0	26.0	25.0					22																	24180756		2195	4291	6486	SO:0001819	synonymous_variant	91319			AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"""chromosome 22 open reading frame 14"", ""Der1-like domain family, member 3"""	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.228C>G	22.37:g.24180756G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Missense_Mutation	SNP	pfam_DER1	p.L81V	ENST00000318109.7	37	c.241	CCDS33615.1	22	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108740	0.37242	.	.	ENSG00000099958	ENST00000404056	.	.	.	5.23	0.576	0.17380	.	0.150059	0.40144	N	0.001175	T	0.22551	0.0544	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20940	-1.0260	6	0.02654	T	1	-50.0935	4.5608	0.12160	0.2012:0.0:0.4037:0.3951	.	.	.	.	V	81	.	ENSP00000384473:L81V	L	-	1	0	DERL3	22510756	0.991000	0.36638	1.000000	0.80357	0.989000	0.77384	0.152000	0.16302	0.296000	0.22592	0.555000	0.69702	CTT	DERL3	-	NULL		0.682	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL3	HGNC	protein_coding	OTTHUMT00000319905.1	G	NM_198440		24180756	-1	no_errors	ENST00000404056	ensembl	human	novel	70_37	missense	SNP	0.995	C
DFNB59	494513	genome.wustl.edu	37	2	179325119	179325119	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179325119G>A	ENST00000409117.3	+	6	1068	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	DFNB59_ENST00000375129.4_Missense_Mutation_p.E238K	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	238					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TGAAAGGGAAGAAACGGCAAC	0.308																																																	0													108.0	102.0	104.0					2																	179325119		1846	4090	5936	SO:0001583	missense	494513			BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.712G>A	2.37:g.179325119G>A	ENSP00000386647:p.Glu238Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PK14|B9EJE2	Missense_Mutation	SNP	pfam_Gasdermin	p.E238K	ENST00000409117.3	37	c.712	CCDS42787.1	2	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414664	0.42817	.	.	ENSG00000204311	ENST00000409117;ENST00000375129;ENST00000442710	T;T	0.21543	2.0;2.0	5.62	5.62	0.85841	.	0.196102	0.31051	U	0.008352	T	0.07007	0.0178	N	0.02539	-0.55	0.29729	N	0.83807	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	10	0.06891	T	0.86	-7.4948	8.5538	0.33469	0.0788:0.2771:0.6441:0.0	.	238	Q0ZLH3	PJVK_HUMAN	K	238;238;146	ENSP00000386647:E238K;ENSP00000364271:E238K	ENSP00000364271:E238K	E	+	1	0	DFNB59	179033365	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.193000	0.58385	2.647000	0.89833	0.462000	0.41574	GAA	DFNB59	-	pfam_Gasdermin		0.308	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB59	HGNC	protein_coding	OTTHUMT00000335160.1	G			179325119	+1	no_errors	ENST00000375129	ensembl	human	known	70_37	missense	SNP	1.000	A
DGAT1	8694	genome.wustl.edu	37	8	145540570	145540570	+	Silent	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:145540570C>A	ENST00000332324.4	-	16	1530	c.1257G>T	c.(1255-1257)gtG>gtT	p.V419V	DGAT1_ENST00000527438.1_5'UTR|GS1-393G12.12_ENST00000525023.1_RNA	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	419					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GAGGGACGCTCACCAGGTACT	0.647																																																	0													49.0	43.0	45.0					8																	145540570		2198	4293	6491	SO:0001819	synonymous_variant	8694			AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.1257G>T	8.37:g.145540570C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RWQ2|D3DWL6|Q96BB8	Nonsense_Mutation	SNP	superfamily_PEP-util_enz_mobile_dom	p.E254*	ENST00000332324.4	37	c.760	CCDS6420.1	8	.	.	.	.	.	.	.	.	.	.	C	38	7.240073	0.98157	.	.	ENSG00000185000	ENST00000526479	.	.	.	4.55	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-7.5367	12.1634	0.54117	0.0:0.8259:0.1741:0.0	.	.	.	.	X	254	.	ENSP00000435883:E254X	E	-	1	0	DGAT1	145511378	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.050000	0.30404	1.100000	0.41517	0.561000	0.74099	GAG	DGAT1	-	NULL		0.647	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT1	HGNC	protein_coding	OTTHUMT00000382059.3	C	NM_012079		145540570	-1	no_errors	ENST00000526479	ensembl	human	novel	70_37	nonsense	SNP	1.000	A
DGKG	1608	genome.wustl.edu	37	3	185906061	185906061	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:185906061C>G	ENST00000265022.3	-	22	2564	c.2025G>C	c.(2023-2025)aaG>aaC	p.K675N	DGKG_ENST00000544847.1_Missense_Mutation_p.K616N|DGKG_ENST00000344484.4_Missense_Mutation_p.K650N|DGKG_ENST00000382164.4_Missense_Mutation_p.K636N	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	675					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CAGCCCGGTTCTTCTTGTTTT	0.502																																																	0													148.0	134.0	139.0					3																	185906061		2203	4300	6503	SO:0001583	missense	1608			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.2025G>C	3.37:g.185906061C>G	ENSP00000265022:p.Lys675Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.K675N	ENST00000265022.3	37	c.2025	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761427	0.31228	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	4.44	3.47	0.39725	Diacylglycerol kinase, accessory domain (2);	0.116792	0.56097	D	0.000028	T	0.40719	0.1128	L	0.53617	1.68	0.43494	D	0.995731	B;B;B;P	0.51933	0.166;0.179;0.165;0.949	B;B;B;P	0.57960	0.083;0.17;0.051;0.83	T	0.25433	-1.0132	10	0.72032	D	0.01	.	7.6304	0.28236	0.0:0.7974:0.0:0.2026	.	616;650;636;675	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	N	675;650;636;616	ENSP00000265022:K675N;ENSP00000339777:K650N;ENSP00000371599:K636N;ENSP00000440507:K616N	ENSP00000265022:K675N	K	-	3	2	DGKG	187388755	0.999000	0.42202	1.000000	0.80357	0.902000	0.53008	0.659000	0.24994	2.307000	0.77673	0.313000	0.20887	AAG	DGKG	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory		0.502	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	HGNC	protein_coding	OTTHUMT00000344800.3	C			185906061	-1	no_errors	ENST00000265022	ensembl	human	known	70_37	missense	SNP	1.000	G
DGKK	139189	genome.wustl.edu	37	X	50213446	50213446	+	RNA	SNP	A	A	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:50213446A>G	ENST00000376025.2	-	0	291							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ggTTCTGTGTACAGTTCTGTG	0.647																																																	0													72.0	84.0	80.0					X																	50213446		1913	4108	6021			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213446A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-		0.647	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	A	NM_001013742		50213446	-1	no_errors	ENST00000376025	ensembl	human	known	70_37	rna	SNP	0.001	G
DGKZ	8525	genome.wustl.edu	37	11	46388884	46388884	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:46388884C>T	ENST00000454345.1	+	3	897	c.772C>T	c.(772-774)Ccg>Tcg	p.P258S	DGKZ_ENST00000532868.2_Missense_Mutation_p.P74S|DGKZ_ENST00000421244.2_Missense_Mutation_p.P69S|DGKZ_ENST00000456247.2_Missense_Mutation_p.P69S|DGKZ_ENST00000527911.1_Missense_Mutation_p.P69S|DGKZ_ENST00000395574.3_Missense_Mutation_p.P35S|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000343674.6_Missense_Mutation_p.P86S|DGKZ_ENST00000318201.8_Missense_Mutation_p.P69S	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	258	Poly-Pro.				blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GGCCCCCCCTCCGCCCACCCC	0.657																																																	0													26.0	31.0	29.0					11																	46388884		2197	4299	6496	SO:0001583	missense	8525			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.772C>T	11.37:g.46388884C>T	ENSP00000412178:p.Pro258Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P258S	ENST00000454345.1	37	c.772	CCDS41640.1	11	.	.	.	.	.	.	.	.	.	.	C	4.644	0.119660	0.08881	.	.	ENSG00000149091	ENST00000343674;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T	0.21543	2.57;2.75;2.8;3.74;2.57;2.63;2.72;2.0	4.64	2.59	0.31030	.	0.275106	0.41938	D	0.000792	T	0.12603	0.0306	L	0.37630	1.12	0.09310	N	0.999999	B;B;B;B;B;B;B;B;B;B	0.32753	0.048;0.048;0.103;0.048;0.014;0.081;0.081;0.048;0.383;0.005	B;B;B;B;B;B;B;B;B;B	0.34418	0.041;0.028;0.067;0.041;0.007;0.09;0.09;0.041;0.182;0.016	T	0.11743	-1.0575	10	0.19147	T	0.46	.	2.9442	0.05840	0.238:0.393:0.2802:0.0888	.	69;35;35;69;258;69;69;35;35;86	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZWA5;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.;.	S	86;35;35;69;69;69;69;258	ENSP00000343065:P86S;ENSP00000378941:P35S;ENSP00000436273:P35S;ENSP00000436291:P69S;ENSP00000395684:P69S;ENSP00000391021:P69S;ENSP00000320340:P69S;ENSP00000412178:P258S	ENSP00000320340:P69S	P	+	1	0	DGKZ	46345460	0.134000	0.22483	0.610000	0.28997	0.471000	0.32888	0.869000	0.27996	1.286000	0.44565	0.555000	0.69702	CCG	DGKZ	-	NULL		0.657	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKZ	HGNC	protein_coding	OTTHUMT00000389772.1	C	NM_001105540		46388884	+1	no_errors	ENST00000454345	ensembl	human	known	70_37	missense	SNP	0.005	T
DGKZ	8525	genome.wustl.edu	37	11	46389291	46389291	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:46389291G>C	ENST00000454345.1	+	4	1052	c.927G>C	c.(925-927)agG>agC	p.R309S	DGKZ_ENST00000532868.2_Missense_Mutation_p.R124S|DGKZ_ENST00000421244.2_Missense_Mutation_p.R120S|DGKZ_ENST00000456247.2_Missense_Mutation_p.R120S|DGKZ_ENST00000527911.1_Missense_Mutation_p.R120S|DGKZ_ENST00000395574.3_Missense_Mutation_p.R86S|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000343674.6_Missense_Mutation_p.R137S|DGKZ_ENST00000318201.8_Missense_Mutation_p.R120S	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	309					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GTGTAGCCAGGATGCTGGTGA	0.647											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													107.0	89.0	95.0					11																	46389291		2202	4299	6501	SO:0001583	missense	8525			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.927G>C	11.37:g.46389291G>C	ENSP00000412178:p.Arg309Ser	Somatic	938	WXS	Illumina HiSeq	Phase_IV	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R309S	ENST00000454345.1	37	c.927	CCDS41640.1	11	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250038	0.59212	.	.	ENSG00000149091	ENST00000343674;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345;ENST00000524448	D;T;T;T;D;T;T;T;T	0.83755	-1.76;2.67;2.73;3.67;-1.76;2.56;2.66;1.97;3.0	5.16	4.24	0.50183	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.192570	0.56097	D	0.000031	T	0.70064	0.3181	N	0.24115	0.695	0.24938	N	0.991876	B;B;B;B;B;B;B;B;B;B	0.32467	0.311;0.311;0.157;0.009;0.02;0.053;0.053;0.077;0.372;0.151	B;B;B;B;B;B;B;B;B;B	0.30316	0.066;0.066;0.066;0.033;0.04;0.096;0.096;0.066;0.114;0.066	T	0.64711	-0.6343	10	0.62326	D	0.03	.	8.6562	0.34064	0.2316:0.0:0.7684:0.0	.	120;85;86;120;309;120;120;86;86;137	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZWA5;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.;.	S	137;86;85;120;120;120;120;309;30	ENSP00000343065:R137S;ENSP00000378941:R86S;ENSP00000436273:R85S;ENSP00000436291:R120S;ENSP00000395684:R120S;ENSP00000391021:R120S;ENSP00000320340:R120S;ENSP00000412178:R309S;ENSP00000435763:R30S	ENSP00000320340:R120S	R	+	3	2	DGKZ	46345867	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.916000	0.28651	1.319000	0.45190	0.555000	0.69702	AGG	DGKZ	-	smart_Prot_Kinase_C-like_PE/DAG-bd		0.647	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKZ	HGNC	protein_coding	OTTHUMT00000389772.1	G	NM_001105540		46389291	+1	no_errors	ENST00000454345	ensembl	human	known	70_37	missense	SNP	1.000	C
DHODH	1723	genome.wustl.edu	37	16	72051002	72051002	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:72051002G>A	ENST00000219240.4	+	4	535	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	DHODH_ENST00000573922.1_3'UTR|DHODH_ENST00000572887.1_Missense_Mutation_p.E172K	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	172					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	CAAGCTCACAGAAGGTAAAGT	0.483																																																	0													123.0	136.0	132.0					16																	72051002		1927	4150	6077	SO:0001583	missense	1723				CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"""dihydroorotate dehydrogenase"""			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.514G>A	16.37:g.72051002G>A	ENSP00000219240:p.Glu172Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8C8|Q6P176	Missense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2	p.E172K	ENST00000219240.4	37	c.514	CCDS42192.1	16	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563677	0.27915	.	.	ENSG00000102967	ENST00000219240	D	0.93906	-3.31	5.82	3.77	0.43336	Aldolase-type TIM barrel (1);	0.363826	0.34531	N	0.003898	T	0.73885	0.3644	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.64407	-0.6415	10	0.07175	T	0.84	-6.7377	9.4006	0.38431	0.1367:0.1196:0.7436:0.0	.	172	Q02127	PYRD_HUMAN	K	172	ENSP00000219240:E172K	ENSP00000219240:E172K	E	+	1	0	DHODH	70608503	0.370000	0.25047	0.979000	0.43373	0.532000	0.34746	1.145000	0.31577	1.438000	0.47492	0.561000	0.74099	GAA	DHODH	-	pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2		0.483	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHODH	HGNC	protein_coding		G	NM_001361		72051002	+1	no_errors	ENST00000219240	ensembl	human	known	70_37	missense	SNP	0.064	A
DHTKD1	55526	genome.wustl.edu	37	10	12142234	12142234	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:12142234C>G	ENST00000263035.4	+	9	1791	c.1729C>G	c.(1729-1731)Ctt>Gtt	p.L577V		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	577					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CGCGGAAGCTCTTGCCTTGGG	0.423																																																	0													138.0	152.0	147.0					10																	12142234		2203	4300	6503	SO:0001583	missense	55526			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1729C>G	10.37:g.12142234C>G	ENSP00000263035:p.Leu577Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.L577V	ENST00000263035.4	37	c.1729	CCDS7087.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.43|14.43	2.533355|2.533355	0.45073|0.45073	.|.	.|.	ENSG00000181192|ENSG00000181192	ENST00000263035|ENST00000448829	D|.	0.92099|.	-2.97|.	5.39|5.39	3.44|3.44	0.39384|0.39384	Transketolase-like, pyrimidine-binding domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76506|0.76506	0.3997|0.3997	M|M	0.92784|0.92784	3.345|3.345	0.54753|0.54753	D|D	0.999983|0.999983	D|.	0.65815|.	0.995|.	D|.	0.72075|.	0.976|.	T|T	0.79090|0.79090	-0.1946|-0.1946	10|5	0.87932|.	D|.	0|.	-10.9028|-10.9028	3.4898|3.4898	0.07633|0.07633	0.0:0.5289:0.2333:0.2378|0.0:0.5289:0.2333:0.2378	.|.	577|.	Q96HY7|.	DHTK1_HUMAN|.	V|C	577|128	ENSP00000263035:L577V|.	ENSP00000263035:L577V|.	L|S	+|+	1|2	0|0	DHTKD1|DHTKD1	12182240|12182240	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.351000|0.351000	0.29236|0.29236	1.310000|1.310000	0.33551|0.33551	2.531000|2.531000	0.85337|0.85337	0.484000|0.484000	0.47621|0.47621	CTT|TCT	DHTKD1	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.423	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	HGNC	protein_coding	OTTHUMT00000046777.1	C	NM_018706		12142234	+1	no_errors	ENST00000263035	ensembl	human	known	70_37	missense	SNP	1.000	G
DHX15	1665	genome.wustl.edu	37	4	24578195	24578195	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:24578195C>G	ENST00000336812.4	-	2	334	c.178G>C	c.(178-180)Gag>Cag	p.E60Q		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	60					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GCTCGCAActccttctccttt	0.483																																																	0													250.0	219.0	229.0					4																	24578195		2203	4300	6503	SO:0001583	missense	1665			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.178G>C	4.37:g.24578195C>G	ENSP00000336741:p.Glu60Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NQT7	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E60Q	ENST00000336812.4	37	c.178	CCDS33966.1	4	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720668	0.30503	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.50548	0.74	5.63	5.63	0.86233	.	0.404011	0.27379	N	0.019629	T	0.29061	0.0722	N	0.08118	0	0.45515	D	0.998475	B	0.19583	0.037	B	0.20955	0.032	T	0.19386	-1.0307	10	0.06236	T	0.91	-20.461	19.7096	0.96089	0.0:1.0:0.0:0.0	.	60	O43143	DHX15_HUMAN	Q	60;49	ENSP00000336741:E60Q	ENSP00000336741:E60Q	E	-	1	0	DHX15	24187293	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.322000	0.59215	2.652000	0.90054	0.655000	0.94253	GAG	DHX15	-	NULL		0.483	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX15	HGNC	protein_coding	OTTHUMT00000360143.1	C	NM_001358		24578195	-1	no_errors	ENST00000336812	ensembl	human	known	70_37	missense	SNP	1.000	G
DHX29	54505	genome.wustl.edu	37	5	54567958	54567958	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:54567958C>T	ENST00000251636.5	-	18	2969	c.2821G>A	c.(2821-2823)Gat>Aat	p.D941N	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	941	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AATACAACATCAGGAATAGTG	0.303																																																	0													49.0	52.0	51.0					5																	54567958		2201	4294	6495	SO:0001583	missense	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2821G>A	5.37:g.54567958C>T	ENSP00000251636:p.Asp941Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D941N	ENST00000251636.5	37	c.2821	CCDS34158.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.118841	0.94385	.	.	ENSG00000067248	ENST00000251636	T	0.02606	4.23	5.13	5.13	0.70059	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.11239	0.0274	L	0.48935	1.535	0.58432	D	0.999998	D	0.65815	0.995	D	0.65010	0.931	T	0.00945	-1.1505	10	0.87932	D	0	.	18.9492	0.92635	0.0:1.0:0.0:0.0	.	941	Q7Z478	DHX29_HUMAN	N	941	ENSP00000251636:D941N	ENSP00000251636:D941N	D	-	1	0	DHX29	54603715	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.386000	0.79775	2.551000	0.86045	0.655000	0.94253	GAT	DHX29	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.303	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX29	HGNC	protein_coding	OTTHUMT00000368532.1	C	NM_019030		54567958	-1	no_errors	ENST00000251636	ensembl	human	known	70_37	missense	SNP	1.000	T
DHX35	60625	genome.wustl.edu	37	20	37653956	37653956	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:37653956G>A	ENST00000252011.3	+	18	1788	c.1755G>A	c.(1753-1755)ttG>ttA	p.L585L	DHX35_ENST00000373323.4_Silent_p.L554L|DHX35_ENST00000373325.2_Silent_p.L585L	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	585					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GAGAACAATTGAAAAAGCTTC	0.448																																																	0													192.0	200.0	197.0					20																	37653956		2203	4300	6503	SO:0001819	synonymous_variant	60625			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1755G>A	20.37:g.37653956G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L585	ENST00000252011.3	37	c.1755	CCDS13310.1	20																																																																																			DHX35	-	pfam_DUF1605		0.448	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX35	HGNC	protein_coding	OTTHUMT00000079212.2	G	NM_021931		37653956	+1	no_errors	ENST00000252011	ensembl	human	known	70_37	silent	SNP	1.000	A
DHX36	170506	genome.wustl.edu	37	3	154024010	154024010	+	Silent	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:154024010G>T	ENST00000496811.1	-	6	968	c.888C>A	c.(886-888)ctC>ctA	p.L296L	DHX36_ENST00000329463.5_Silent_p.L296L|DHX36_ENST00000544526.1_Silent_p.L296L|DHX36_ENST00000308361.6_Silent_p.L296L	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	296	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTTACCTCTGGAGACGAATTT	0.358																																																	0													90.0	93.0	92.0					3																	154024010		2203	4300	6503	SO:0001819	synonymous_variant	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.888C>A	3.37:g.154024010G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB00|Q70JU3|Q8IYE5|Q9P240	Silent	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L296	ENST00000496811.1	37	c.888	CCDS3171.1	3																																																																																			DHX36	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.358	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX36	HGNC	protein_coding	OTTHUMT00000353349.1	G	NM_020865		154024010	-1	no_errors	ENST00000496811	ensembl	human	known	70_37	silent	SNP	0.772	T
DIEXF	27042	genome.wustl.edu	37	1	210010194	210010194	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:210010194G>A	ENST00000491415.2	+	6	757	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	234					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						TCAGAAGTTGGAAACATTTAA	0.413																																																	0													93.0	104.0	100.0					1																	210010194		2203	4300	6503	SO:0001583	missense	27042			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.700G>A	1.37:g.210010194G>A	ENSP00000419005:p.Glu234Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	pfam_Digest_organ_expansion_fac-prd	p.E234K	ENST00000491415.2	37	c.700	CCDS1493.1	1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.101974	0.37048	.	.	ENSG00000117597	ENST00000491415	T	0.43294	0.95	5.91	5.91	0.95273	.	0.322090	0.38381	N	0.001715	T	0.25827	0.0629	N	0.26042	0.785	0.39221	D	0.963501	B	0.13145	0.007	B	0.12156	0.007	T	0.13818	-1.0495	10	0.07325	T	0.83	-22.0019	9.5404	0.39248	0.0789:0.1448:0.7763:0.0	.	234	Q68CQ4	DIEXF_HUMAN	K	234	ENSP00000419005:E234K	ENSP00000419005:E234K	E	+	1	0	DIEXF	208076817	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.530000	0.53539	2.793000	0.96121	0.655000	0.94253	GAA	DIEXF	-	NULL		0.413	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	HGNC	protein_coding	OTTHUMT00000089127.2	G	NM_014388		210010194	+1	no_errors	ENST00000491415	ensembl	human	known	70_37	missense	SNP	1.000	A
DIP2B	57609	genome.wustl.edu	37	12	51064986	51064986	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:51064986G>A	ENST00000301180.5	+	5	479	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	149	Ser-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTCGGCCTCTGAGGATGAGGG	0.473																																																	0													96.0	85.0	89.0					12																	51064986		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.445G>A	12.37:g.51064986G>A	ENSP00000301180:p.Glu149Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.E149K	ENST00000301180.5	37	c.445	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973444	0.74246	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.25749	1.78	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	M	0.69358	2.11	0.80722	D	1	P;D	0.53885	0.761;0.963	B;P	0.50082	0.317;0.63	T	0.05099	-1.0906	10	0.22109	T	0.4	-19.7893	19.3554	0.94410	0.0:0.0:1.0:0.0	.	149;159	Q9P265;E9PHD6	DIP2B_HUMAN;.	K	159;149	ENSP00000301180:E149K	ENSP00000301180:E149K	E	+	1	0	DIP2B	49351253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.809000	0.96659	0.655000	0.94253	GAG	DIP2B	-	NULL		0.473	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	G	NM_173602		51064986	+1	no_errors	ENST00000301180	ensembl	human	known	70_37	missense	SNP	1.000	A
DIP2B	57609	genome.wustl.edu	37	12	51065063	51065063	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:51065063G>C	ENST00000301180.5	+	5	556	c.522G>C	c.(520-522)tgG>tgC	p.W174C		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	174	Ser-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTGAGTCCTGGATCAACCGTT	0.532																																																	0													134.0	115.0	122.0					12																	51065063		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.522G>C	12.37:g.51065063G>C	ENSP00000301180:p.Trp174Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.W174C	ENST00000301180.5	37	c.522	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193971	0.78902	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.24538	1.85	5.26	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.46331	-0.9199	10	0.38643	T	0.18	-9.1017	13.898	0.63785	0.0729:0.0:0.9271:0.0	.	174;184	Q9P265;E9PHD6	DIP2B_HUMAN;.	C	184;174	ENSP00000301180:W174C	ENSP00000301180:W174C	W	+	3	0	DIP2B	49351330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.653000	0.98506	1.469000	0.48083	0.586000	0.80456	TGG	DIP2B	-	NULL		0.532	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	G	NM_173602		51065063	+1	no_errors	ENST00000301180	ensembl	human	known	70_37	missense	SNP	1.000	C
DLEC1	9940	genome.wustl.edu	37	3	38101276	38101276	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:38101276G>A	ENST00000308059.6	+	3	627	c.606G>A	c.(604-606)cgG>cgA	p.R202R	DLEC1_ENST00000346219.3_Silent_p.R202R|DLEC1_ENST00000452631.2_Silent_p.R202R					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGTTGCTACGGAAACATCATT	0.468																																																	0													210.0	203.0	205.0					3																	38101276		1933	4148	6081	SO:0001819	synonymous_variant	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.606G>A	3.37:g.38101276G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	superfamily_PapD-like	p.R202	ENST00000308059.6	37	c.606	CCDS2672.2	3																																																																																			DLEC1	-	NULL		0.468	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	G	NM_007337		38101276	+1	no_errors	ENST00000346219	ensembl	human	known	70_37	silent	SNP	0.047	A
DLG5	9231	genome.wustl.edu	37	10	79593787	79593787	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:79593787C>G	ENST00000372391.2	-	9	1638	c.1633G>C	c.(1633-1635)Gac>Cac	p.D545H	DLG5_ENST00000372388.2_Missense_Mutation_p.D545H	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	545					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTCAGGTTGTCACACAGTGTC	0.632																																																	0													37.0	32.0	34.0					10																	79593787		2202	4300	6502	SO:0001583	missense	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1633G>C	10.37:g.79593787C>G	ENSP00000361467:p.Asp545His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.D545H	ENST00000372391.2	37	c.1633	CCDS7353.2	10	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933794	0.92458	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.06933	3.24;3.34	5.67	5.67	0.87782	.	0.000000	0.41294	D	0.000910	T	0.30572	0.0769	M	0.69358	2.11	0.51767	D	0.999934	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.00589	-1.1656	10	0.87932	D	0	.	19.7629	0.96329	0.0:1.0:0.0:0.0	.	435;545;545	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	H	545	ENSP00000361467:D545H;ENSP00000361464:D545H	ENSP00000361464:D545H	D	-	1	0	DLG5	79263793	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.487000	0.81328	2.666000	0.90696	0.561000	0.74099	GAC	DLG5	-	NULL		0.632	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	C			79593787	-1	no_errors	ENST00000372391	ensembl	human	known	70_37	missense	SNP	1.000	G
DLK1	8788	genome.wustl.edu	37	14	101200864	101200864	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:101200864C>G	ENST00000341267.4	+	5	1025	c.783C>G	c.(781-783)ggC>ggG	p.G261G	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	261					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TGCCCAGCGGCTATGGGCTGG	0.637																																																	0													34.0	40.0	38.0					14																	101200864		2203	4298	6501	SO:0001819	synonymous_variant	8788			U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.783C>G	14.37:g.101200864C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	P15803|Q96DW5	Silent	SNP	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.G261	ENST00000341267.4	37	c.783	CCDS9963.1	14																																																																																			DLK1	-	NULL		0.637	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLK1	HGNC	protein_coding	OTTHUMT00000414389.1	C			101200864	+1	no_errors	ENST00000341267	ensembl	human	known	70_37	silent	SNP	0.000	G
DLL1	28514	genome.wustl.edu	37	6	170593005	170593005	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:170593005G>A	ENST00000366756.3	-	9	1695	c.1362C>T	c.(1360-1362)aaC>aaT	p.N454N		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	454	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AGGTGCCCCCGTTGGCGCACG	0.692																																																	0													15.0	15.0	15.0					6																	170593005		2194	4293	6487	SO:0001819	synonymous_variant	28514			AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1362C>T	6.37:g.170593005G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_DSL,pfscan_EG-like_dom	p.N454	ENST00000366756.3	37	c.1362	CCDS5313.1	6																																																																																			DLL1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.692	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLL1	HGNC	protein_coding	OTTHUMT00000043254.1	G			170593005	-1	no_errors	ENST00000366756	ensembl	human	known	70_37	silent	SNP	0.821	A
DLL4	54567	genome.wustl.edu	37	15	41222245	41222245	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:41222245C>T	ENST00000249749.5	+	2	543	c.267C>T	c.(265-267)ttC>ttT	p.F89F		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	89					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCAACTCCTTCGCTGTCCGGG	0.657											OREG0023070	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													19.0	23.0	22.0					15																	41222245		1960	4126	6086	SO:0001819	synonymous_variant	54567			AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"""delta-like 4 homolog (Drosophila)"""			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.267C>T	15.37:g.41222245C>T		Somatic	899	WXS	Illumina HiSeq	Phase_IV	Q3KP23|Q9NQT9	Silent	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,superfamily_Growth_fac_rcpt,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_DSL,pfscan_EG-like_dom	p.F89	ENST00000249749.5	37	c.267	CCDS45232.1	15																																																																																			DLL4	-	pfam_Notch_ligand_N,superfamily_Growth_fac_rcpt		0.657	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLL4	HGNC	protein_coding	OTTHUMT00000418859.1	C			41222245	+1	no_errors	ENST00000249749	ensembl	human	known	70_37	silent	SNP	1.000	T
DLX2	1746	genome.wustl.edu	37	2	172965437	172965437	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:172965437G>C	ENST00000234198.4	-	3	1182	c.821C>G	c.(820-822)tCg>tGg	p.S274W	DLX2_ENST00000466293.2_3'UTR|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	274					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CAGAAAAGCCGAGGCCGCGCT	0.731																																					GBM(188;775 2993 11256 23072)												0													11.0	13.0	13.0					2																	172965437		2158	4239	6397	SO:0001583	missense	1746			U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"""Homeoboxes / ANTP class : NKL subclass"""	2915	protein-coding gene	gene with protein product		126255	"""distal-less homeo box 2"""			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.821C>G	2.37:g.172965437G>C	ENSP00000234198:p.Ser274Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DMK4|B7ZA14	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Distal-less_N,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.S274W	ENST00000234198.4	37	c.821	CCDS2248.1	2	.	.	.	.	.	.	.	.	.	.	g	24.0	4.476777	0.84640	.	.	ENSG00000115844	ENST00000234198	D	0.90900	-2.75	4.44	4.44	0.53790	.	0.266108	0.31734	N	0.007157	D	0.90504	0.7025	L	0.47190	1.495	0.80722	D	1	D	0.64830	0.994	P	0.51615	0.675	D	0.91676	0.5354	10	0.87932	D	0	-8.8788	13.9779	0.64284	0.0:0.0:1.0:0.0	.	274	Q07687	DLX2_HUMAN	W	274	ENSP00000234198:S274W	ENSP00000234198:S274W	S	-	2	0	DLX2	172673683	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	3.361000	0.52306	2.001000	0.58596	0.457000	0.33378	TCG	DLX2	-	NULL		0.731	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX2	HGNC	protein_coding	OTTHUMT00000255368.3	G			172965437	-1	no_errors	ENST00000234198	ensembl	human	known	70_37	missense	SNP	0.999	C
DMD	1756	genome.wustl.edu	37	X	31893427	31893427	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:31893427G>A	ENST00000357033.4	-	48	7182	c.6976C>T	c.(6976-6978)Ctt>Ttt	p.L2326F	DMD_ENST00000378677.2_Missense_Mutation_p.L2322F|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2326			Missing (in DMD).		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTTTTTCAAGCTGCCCAAGG	0.353																																																	0													72.0	59.0	63.0					X																	31893427		2201	4300	6501	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6976C>T	X.37:g.31893427G>A	ENSP00000354923:p.Leu2326Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.L2326F	ENST00000357033.4	37	c.6976	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.280|4.280	0.051085|0.051085	0.08243|0.08243	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.|T;T;T	.|0.36520	.|1.25;2.02;2.02	5.34|5.34	0.786|0.786	0.18590|0.18590	.|.	.|.	.|.	.|.	.|.	T|T	0.14527|0.14527	0.0351|0.0351	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.06405	.|0.002;0.001;0.001;0.0;0.0	T|T	0.31392|0.31392	-0.9945|-0.9945	5|9	.|0.02654	.|T	.|1	.|.	5.0583|5.0583	0.14544|0.14544	0.3807:0.0:0.4787:0.1407|0.3807:0.0:0.4787:0.1407	.|.	.|2318;2326;2322;985;982	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.|.;DMD_HUMAN;.;.;.	V|F	54|2318;985;982;22;2322;2326;2326;2203	.|ENSP00000350765:L22F;ENSP00000367948:L2322F;ENSP00000354923:L2326F	.|ENSP00000354923:L2326F	A|L	-|-	2|1	0|0	DMD|DMD	31803348|31803348	0.874000|0.874000	0.30092|0.30092	0.966000|0.966000	0.40874|0.40874	0.843000|0.843000	0.47879|0.47879	0.133000|0.133000	0.15912|0.15912	-0.156000|-0.156000	0.11079|0.11079	0.600000|0.600000	0.82982|0.82982	GCT|CTT	DMD	-	pirsf_Dystrophin/utrophin		0.353	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	G	NM_004006		31893427	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	0.926	A
DNAAF2	55172	genome.wustl.edu	37	14	50100096	50100096	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:50100096G>A	ENST00000298292.8	-	1	1852	c.1772C>T	c.(1771-1773)tCa>tTa	p.S591L	DNAAF2_ENST00000406043.3_Missense_Mutation_p.S591L	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	591					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						TGCATTGTTTGAAGAAATGCT	0.388																																																	0													97.0	94.0	95.0					14																	50100096		2203	4300	6503	SO:0001583	missense	55172			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1772C>T	14.37:g.50100096G>A	ENSP00000298292:p.Ser591Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	pfam_PIH	p.S591L	ENST00000298292.8	37	c.1772	CCDS9691.2	14	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153076	0.38021	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.14893	2.47;2.47	5.09	4.18	0.49190	.	0.583623	0.14877	N	0.293167	T	0.09642	0.0237	N	0.05383	-0.06	0.09310	N	1	B;B	0.16802	0.019;0.011	B;B	0.16289	0.015;0.006	T	0.25745	-1.0123	10	0.37606	T	0.19	.	11.2978	0.49288	0.0866:0.0:0.9134:0.0	.	591;591	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	L	591	ENSP00000298292:S591L;ENSP00000384862:S591L	ENSP00000298292:S591L	S	-	2	0	DNAAF2	49169846	0.352000	0.24895	0.863000	0.33907	0.986000	0.74619	1.771000	0.38542	1.247000	0.43917	0.555000	0.69702	TCA	DNAAF2	-	NULL		0.388	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAAF2	HGNC	protein_coding	OTTHUMT00000276813.1	G			50100096	-1	no_errors	ENST00000298292	ensembl	human	known	70_37	missense	SNP	0.246	A
DNAAF3	352909	genome.wustl.edu	37	19	55672075	55672075	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:55672075C>G	ENST00000524407.2	-	9	1014	c.981G>C	c.(979-981)gcG>gcC	p.A327A	DNAAF3_ENST00000587789.2_5'Flank|CTD-2587H24.4_ENST00000587871.1_5'Flank|TNNI3_ENST00000344887.5_5'Flank|DNAAF3_ENST00000527223.2_Silent_p.A395A|CTD-2587H24.5_ENST00000591665.1_RNA|TNNI3_ENST00000590463.1_5'Flank|DNAAF3_ENST00000455045.1_Silent_p.A273A|DNAAF3_ENST00000391720.4_Silent_p.A374A			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	327					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											CGGTGGCTCTCGCGCGCCCCC	0.682											OREG0025678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													56.0	59.0	58.0					19																	55672075		1910	4113	6023	SO:0001819	synonymous_variant	352909			AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.981G>C	19.37:g.55672075C>G		Somatic	1009	WXS	Illumina HiSeq	Phase_IV	A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Silent	SNP	NULL	p.A395	ENST00000524407.2	37	c.1185	CCDS59422.1	19																																																																																			DNAAF3	-	NULL		0.682	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DNAAF3	HGNC	protein_coding	OTTHUMT00000250388.5	C	NM_178837		55672075	-1	no_errors	ENST00000527223	ensembl	human	known	70_37	silent	SNP	0.015	G
DNAH1	25981	genome.wustl.edu	37	3	52387228	52387228	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52387228C>G	ENST00000420323.2	+	19	3398	c.3137C>G	c.(3136-3138)tCt>tGt	p.S1046C		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1046	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACCCCCTCTCTGCCATCGAT	0.562																																																	0													49.0	54.0	52.0					3																	52387228		2132	4246	6378	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3137C>G	3.37:g.52387228C>G	ENSP00000401514:p.Ser1046Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.S1046C	ENST00000420323.2	37	c.3137	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860486	0.51482	.	.	ENSG00000114841	ENST00000420323	T	0.62364	0.03	5.78	5.78	0.91487	.	0.507330	0.16640	N	0.205683	T	0.78181	0.4243	M	0.84219	2.685	0.36198	D	0.850516	D;D	0.63880	0.973;0.993	P;P	0.61328	0.886;0.887	T	0.82159	-0.0595	10	0.46703	T	0.11	.	13.6662	0.62396	0.0:0.9204:0.0:0.0796	.	1046;1046	C9JXH6;Q9P2D7-3	.;.	C	1046	ENSP00000401514:S1046C	ENSP00000401514:S1046C	S	+	2	0	DNAH1	52362268	0.230000	0.23740	0.971000	0.41717	0.161000	0.22273	2.806000	0.47947	2.742000	0.94016	0.650000	0.86243	TCT	DNAH1	-	pfam_Dynein_heavy_dom-2		0.562	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	C	NM_015512		52387228	+1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	0.911	G
DNAH1	25981	genome.wustl.edu	37	3	52396472	52396472	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52396472G>C	ENST00000420323.2	+	31	5310	c.5049G>C	c.(5047-5049)atG>atC	p.M1683I	DNAH1_ENST00000466628.1_3'UTR	NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1683	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTATCACCATGAACCCGGGCT	0.602																																																	0													55.0	62.0	59.0					3																	52396472		2163	4282	6445	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5049G>C	3.37:g.52396472G>C	ENSP00000401514:p.Met1683Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.M1683I	ENST00000420323.2	37	c.5049	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.501831	0.96371	.	.	ENSG00000114841	ENST00000420323	T	0.42131	0.98	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000005	T	0.73257	0.3564	M	0.93939	3.475	0.80722	D	1	D	0.52996	0.957	P	0.61658	0.892	T	0.80178	-0.1490	10	0.87932	D	0	.	19.8554	0.96756	0.0:0.0:1.0:0.0	.	1683	C9JXH6	.	I	1683	ENSP00000401514:M1683I	ENSP00000401514:M1683I	M	+	3	0	DNAH1	52371512	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.869000	0.99810	2.702000	0.92279	0.655000	0.94253	ATG	DNAH1	-	NULL		0.602	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52396472	+1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAH1	25981	genome.wustl.edu	37	3	52396480	52396480	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52396480G>C	ENST00000420323.2	+	31	5318	c.5057G>C	c.(5056-5058)gGc>gCc	p.G1686A	DNAH1_ENST00000466628.1_3'UTR	NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1686	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGAACCCGGGCTACGCTGGC	0.587																																																	0													48.0	54.0	52.0					3																	52396480		2154	4284	6438	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5057G>C	3.37:g.52396480G>C	ENSP00000401514:p.Gly1686Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.G1686A	ENST00000420323.2	37	c.5057	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755319	0.89843	.	.	ENSG00000114841	ENST00000420323	T	0.16457	2.34	5.72	5.72	0.89469	.	0.000000	0.51477	D	0.000100	T	0.61689	0.2367	H	0.98178	4.165	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.76892	-0.2791	10	0.87932	D	0	.	19.8554	0.96756	0.0:0.0:1.0:0.0	.	1686	C9JXH6	.	A	1686	ENSP00000401514:G1686A	ENSP00000401514:G1686A	G	+	2	0	DNAH1	52371520	1.000000	0.71417	0.174000	0.22961	0.570000	0.35934	9.869000	0.99810	2.702000	0.92279	0.655000	0.94253	GGC	DNAH1	-	NULL		0.587	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52396480	+1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAH1	25981	genome.wustl.edu	37	3	52398683	52398683	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52398683G>A	ENST00000420323.2	+	33	5535	c.5274G>A	c.(5272-5274)gtG>gtA	p.V1758V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1758	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGAGAGCCGTGAAAACTGTGA	0.572																																																	0													91.0	93.0	93.0					3																	52398683		2051	4199	6250	SO:0001819	synonymous_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5274G>A	3.37:g.52398683G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.V1758	ENST00000420323.2	37	c.5274	CCDS46842.1	3																																																																																			DNAH1	-	NULL		0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52398683	+1	no_errors	ENST00000420323	ensembl	human	known	70_37	silent	SNP	1.000	A
DNAH11	8701	genome.wustl.edu	37	7	21726796	21726796	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:21726796G>C	ENST00000409508.3	+	33	5732	c.5701G>C	c.(5701-5703)Gag>Cag	p.E1901Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.E1908Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1908	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGGGAAAACAGAGACCACCAA	0.428									Kartagener syndrome																																								0													91.0	93.0	92.0					7																	21726796		1879	4127	6006	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5701G>C	7.37:g.21726796G>C	ENSP00000475939:p.Glu1901Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E1908Q	ENST00000409508.3	37	c.5722		7	.	.	.	.	.	.	.	.	.	.	G	18.58	3.653725	0.67472	.	.	ENSG00000105877	ENST00000328843	T	0.14144	2.53	5.84	5.84	0.93424	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.24368	-1.0162	9	0.87932	D	0	.	19.7538	0.96281	0.0:0.0:1.0:0.0	.	1908	Q96DT5	DYH11_HUMAN	Q	1908	ENSP00000330671:E1908Q	ENSP00000330671:E1908Q	E	+	1	0	DNAH11	21693321	1.000000	0.71417	0.997000	0.53966	0.081000	0.17604	9.756000	0.98918	2.769000	0.95229	0.563000	0.77884	GAG	DNAH11	-	smart_AAA+_ATPase		0.428	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21726796	+1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAH2	146754	genome.wustl.edu	37	17	7643227	7643227	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:7643227G>C	ENST00000572933.1	+	9	2807	c.1347G>C	c.(1345-1347)aaG>aaC	p.K449N	DNAH2_ENST00000570791.1_Missense_Mutation_p.K531N|DNAH2_ENST00000082259.3_Missense_Mutation_p.K531N|DNAH2_ENST00000389173.2_Missense_Mutation_p.K449N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	449	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGATGTCAAGAACACCTGTT	0.542																																																	0													72.0	64.0	67.0					17																	7643227		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1347G>C	17.37:g.7643227G>C	ENSP00000458355:p.Lys449Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.K449N	ENST00000572933.1	37	c.1347	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216454	0.58452	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.56444	0.46;0.46	4.85	3.88	0.44766	Dynein heavy chain, domain-1 (1);	0.120660	0.52532	D	0.000068	T	0.72811	0.3507	M	0.85373	2.75	0.25549	N	0.987107	D;D	0.89917	0.979;1.0	D;D	0.80764	0.965;0.994	T	0.66244	-0.5972	10	0.56958	D	0.05	.	12.1064	0.53816	0.0846:0.0:0.9154:0.0	.	449;531	Q9P225;Q9P225-3	DYH2_HUMAN;.	N	449;449;531	ENSP00000373825:K449N;ENSP00000082259:K531N	ENSP00000082259:K531N	K	+	3	2	DNAH2	7583952	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	4.095000	0.57728	1.277000	0.44412	-0.142000	0.14014	AAG	DNAH2	-	pfam_Dynein_heavy_dom-1		0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7643227	+1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAH17	8632	genome.wustl.edu	37	17	76570852	76570852	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:76570852G>C	ENST00000585328.1	-	2	412	c.288C>G	c.(286-288)ctC>ctG	p.L96L	DNAH17_ENST00000389840.5_Silent_p.L96L	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	96	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGCCGTAAAGGAGCCGGGCCC	0.607																																																	0													141.0	150.0	147.0					17																	76570852		2067	4203	6270	SO:0001819	synonymous_variant	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.288C>G	17.37:g.76570852G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.L96	ENST00000585328.1	37	c.288		17																																																																																			DNAH17	-	NULL		0.607	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	G	NM_173628		76570852	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	silent	SNP	0.000	C
DNAH3	55567	genome.wustl.edu	37	16	20975884	20975884	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:20975884C>T	ENST00000261383.3	-	53	9321	c.9322G>A	c.(9322-9324)Gat>Aat	p.D3108N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3108	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAGTTGCTATCAGAGAACTTG	0.468																																																	0													160.0	152.0	154.0					16																	20975884		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9322G>A	16.37:g.20975884C>T	ENSP00000261383:p.Asp3108Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.D3108N	ENST00000261383.3	37	c.9322	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114119	0.56398	.	.	ENSG00000158486	ENST00000261383	T	0.21932	1.98	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.53514	0.1801	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52268	-0.8598	10	0.52906	T	0.07	.	20.3955	0.98984	0.0:1.0:0.0:0.0	.	3108	Q8TD57	DYH3_HUMAN	N	3108	ENSP00000261383:D3108N	ENSP00000261383:D3108N	D	-	1	0	DNAH3	20883385	1.000000	0.71417	0.134000	0.22075	0.005000	0.04900	5.997000	0.70646	2.830000	0.97506	0.655000	0.94253	GAT	DNAH3	-	NULL		0.468	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	C	NM_017539		20975884	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH3	55567	genome.wustl.edu	37	16	21053505	21053505	+	Silent	SNP	G	G	A	rs147257748		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:21053505G>A	ENST00000261383.3	-	32	4481	c.4482C>T	c.(4480-4482)gtC>gtT	p.V1494V	DNAH3_ENST00000415178.1_Silent_p.V1494V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1494	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTGCTGAGCGACCACAGACA	0.522													G|||	1	0.000199681	0.0	0.0014	5008	,	,		12877	0.0		0.0	False		,,,				2504	0.0																0								G		0,4402		0,0,2201	153.0	128.0	137.0		4482	-9.2	0.7	16	dbSNP_134	137	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	DNAH3	NM_017539.1		0,3,6498	AA,AG,GG		0.0349,0.0,0.0231		1494/4117	21053505	3,12999	2201	4300	6501	SO:0001819	synonymous_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4482C>T	16.37:g.21053505G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.V1494	ENST00000261383.3	37	c.4482	CCDS10594.1	16																																																																																			DNAH3	-	smart_AAA+_ATPase		0.522	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		21053505	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	silent	SNP	0.588	A
DNAH5	1767	genome.wustl.edu	37	5	13841827	13841827	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:13841827C>T	ENST00000265104.4	-	33	5562	c.5458G>A	c.(5458-5460)Gaa>Aaa	p.E1820K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1820	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAAAGAAATTCAGTTAGTTGG	0.368									Kartagener syndrome																																								0													91.0	90.0	90.0					5																	13841827		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5458G>A	5.37:g.13841827C>T	ENSP00000265104:p.Glu1820Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E1820K	ENST00000265104.4	37	c.5458	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692186	0.68271	.	.	ENSG00000039139	ENST00000265104	T	0.23950	1.88	6.03	6.03	0.97812	.	0.099077	0.64402	D	0.000002	T	0.30572	0.0769	L	0.55213	1.73	0.58432	D	0.999996	B	0.16802	0.019	B	0.25140	0.058	T	0.07849	-1.0751	10	0.18710	T	0.47	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1820	Q8TE73	DYH5_HUMAN	K	1820	ENSP00000265104:E1820K	ENSP00000265104:E1820K	E	-	1	0	DNAH5	13894827	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.036000	0.70948	2.861000	0.98227	0.655000	0.94253	GAA	DNAH5	-	NULL		0.368	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	C	NM_001369		13841827	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH6	1768	genome.wustl.edu	37	2	84848475	84848475	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:84848475C>G	ENST00000237449.6	+	24	3961	c.3953C>G	c.(3952-3954)tCt>tGt	p.S1318C	DNAH6_ENST00000398278.2_Missense_Mutation_p.S1318C|DNAH6_ENST00000389394.3_Missense_Mutation_p.S1318C			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1318	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GGCCACCCTTCTCAAGTAACT	0.453																																																	0													67.0	60.0	62.0					2																	84848475		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.3953C>G	2.37:g.84848475C>G	ENSP00000237449:p.Ser1318Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S1318C	ENST00000237449.6	37	c.3953	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133969	0.77662	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.60424	0.19;0.19;0.19	5.02	5.02	0.67125	.	.	.	.	.	T	0.72011	0.3408	M	0.64567	1.98	0.45690	D	0.998602	D	0.71674	0.998	D	0.63192	0.912	T	0.75516	-0.3290	9	0.72032	D	0.01	.	17.109	0.86670	0.0:1.0:0.0:0.0	.	1318	Q9C0G6	DYH6_HUMAN	C	1318	ENSP00000374045:S1318C;ENSP00000381326:S1318C;ENSP00000237449:S1318C	ENSP00000237449:S1318C	S	+	2	0	DNAH6	84701986	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.485000	0.73625	2.326000	0.78906	0.563000	0.77884	TCT	DNAH6	-	NULL		0.453	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	C	NM_001370		84848475	+1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAH7	56171	genome.wustl.edu	37	2	196729379	196729379	+	Missense_Mutation	SNP	G	G	C	rs187261509	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:196729379G>C	ENST00000312428.6	-	41	7100	c.7000C>G	c.(7000-7002)Cgc>Ggc	p.R2334G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2334	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCATGGCTGCGAGGCTGCTTC	0.453																																																	0													96.0	96.0	96.0					2																	196729379		1957	4174	6131	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7000C>G	2.37:g.196729379G>C	ENSP00000311273:p.Arg2334Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.R2334G	ENST00000312428.6	37	c.7000	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	0.513	-0.865726	0.02590	.	.	ENSG00000118997	ENST00000312428	T	0.57107	0.42	4.7	4.7	0.59300	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.66015	0.2747	L	0.52206	1.635	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.61392	-0.7072	10	0.26408	T	0.33	.	17.4131	0.87492	0.0:0.0:1.0:0.0	.	2334	Q8WXX0	DYH7_HUMAN	G	2334	ENSP00000311273:R2334G	ENSP00000311273:R2334G	R	-	1	0	DNAH7	196437624	0.904000	0.30761	0.960000	0.40013	0.180000	0.23129	1.901000	0.39838	2.452000	0.82932	0.460000	0.39030	CGC	DNAH7	-	NULL		0.453	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	G	NM_018897		196729379	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	missense	SNP	0.860	C
DNAH8	1769	genome.wustl.edu	37	6	38790648	38790648	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:38790648G>A	ENST00000359357.3	+	25	3161	c.2907G>A	c.(2905-2907)ctG>ctA	p.L969L	DNAH8_ENST00000449981.2_Silent_p.L1186L|DNAH8_ENST00000441566.1_Silent_p.L969L|SNORA8_ENST00000391284.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	969					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGAGGAAGCTGAAGAATTTTT	0.373																																																	0													46.0	47.0	47.0					6																	38790648		2203	4300	6503	SO:0001819	synonymous_variant	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2907G>A	6.37:g.38790648G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L969	ENST00000359357.3	37	c.2907		6																																																																																			DNAH8	-	NULL		0.373	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	G	NM_001206927		38790648	+1	no_errors	ENST00000359357	ensembl	human	known	70_37	silent	SNP	1.000	A
FUBP1	8880	genome.wustl.edu	37	1	78444880	78444880	+	5'Flank	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:78444880G>C	ENST00000370768.2	-	0	0				FUBP1_ENST00000436586.2_5'Flank|DNAJB4_ENST00000487931.1_3'UTR|FUBP1_ENST00000370767.1_5'Flank	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGTTAGGGCTGAGAAAGAACG	0.527			"""F, N"""		oligodendroglioma																																			Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0																																										SO:0001631	upstream_gene_variant	11080			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799		1.37:g.78444880G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q12828	RNA	SNP	-	NULL	ENST00000370768.2	37	NULL	CCDS683.1	1																																																																																			DNAJB4	-	-		0.527	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB4	HGNC	protein_coding	OTTHUMT00000098030.3	G	NM_003902		78444880	+1	no_errors	ENST00000487931	ensembl	human	known	70_37	rna	SNP	0.000	C
DNAJC10	54431	genome.wustl.edu	37	2	183616895	183616895	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:183616895C>T	ENST00000264065.7	+	16	1946	c.1531C>T	c.(1531-1533)Cat>Tat	p.H511Y		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	511	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGTACAGTTCATGAGGGACT	0.333																																					Pancreas(56;860 1183 25669 35822 48585)												0													128.0	113.0	118.0					2																	183616895		2203	4300	6503	SO:0001583	missense	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1531C>T	2.37:g.183616895C>T	ENSP00000264065:p.His511Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_DnaJ_N,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_N,smart_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_N,prints_Hsp_DnaJ,prints_Thioredoxin	p.H511Y	ENST00000264065.7	37	c.1531	CCDS33345.1	2	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274077	0.59649	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.38401	1.14	6.03	5.16	0.70880	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.28333	0.0700	N	0.20401	0.57	0.80722	D	1	P;P	0.38827	0.598;0.649	B;B	0.41374	0.355;0.336	T	0.04333	-1.0959	10	0.25106	T	0.35	.	15.0618	0.71961	0.0:0.9326:0.0:0.0674	.	465;511	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	Y	511;465	ENSP00000264065:H511Y	ENSP00000264065:H511Y	H	+	1	0	DNAJC10	183325140	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.756000	0.85195	1.556000	0.49512	0.655000	0.94253	CAT	DNAJC10	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C		0.333	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC10	HGNC	protein_coding	OTTHUMT00000334418.2	C	NM_018981		183616895	+1	no_errors	ENST00000264065	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAJC13	23317	genome.wustl.edu	37	3	132172997	132172997	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:132172997G>C	ENST00000260818.6	+	9	1176	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	310					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTCTTCAACAGAGAGGTATTT	0.318																																																	0													61.0	73.0	69.0					3																	132172997		2197	4278	6475	SO:0001583	missense	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.928G>C	3.37:g.132172997G>C	ENSP00000260818:p.Glu310Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.E310Q	ENST00000260818.6	37	c.928	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	G	18.95	3.730888	0.69074	.	.	ENSG00000138246	ENST00000260818	T	0.46819	0.86	5.58	5.58	0.84498	.	0.055787	0.64402	D	0.000001	T	0.50684	0.1630	M	0.65498	2.005	0.58432	D	0.999999	B;B	0.23806	0.091;0.008	B;B	0.24006	0.05;0.007	T	0.49173	-0.8967	10	0.52906	T	0.07	.	17.7574	0.88453	0.0:0.0:1.0:0.0	.	310;310	A7E2Y5;O75165	.;DJC13_HUMAN	Q	310	ENSP00000260818:E310Q	ENSP00000260818:E310Q	E	+	1	0	DNAJC13	133655687	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.862000	0.92283	2.622000	0.88805	0.650000	0.86243	GAG	DNAJC13	-	NULL		0.318	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	G	NM_015268		132172997	+1	no_errors	ENST00000260818	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAJC17	55192	genome.wustl.edu	37	15	41071455	41071455	+	Missense_Mutation	SNP	C	C	A	rs571440654		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:41071455C>A	ENST00000220496.4	-	4	291	c.261G>T	c.(259-261)caG>caT	p.Q87H		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	87					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CATCAAGTTTCTGGGTCCTCT	0.507																																																	0													271.0	212.0	232.0					15																	41071455		2203	4300	6503	SO:0001583	missense	55192			AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"""Heat shock proteins / DNAJ (HSP40)"", ""RNA binding motif (RRM) containing"""	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.261G>T	15.37:g.41071455C>A	ENSP00000220496:p.Gln87His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DnaJ_N,pfam_RRM_dom,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.Q87H	ENST00000220496.4	37	c.261	CCDS10065.1	15	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395707	0.42512	.	.	ENSG00000104129	ENST00000220496	T	0.18657	2.2	5.63	3.77	0.43336	Heat shock protein DnaJ, N-terminal (1);	0.049341	0.85682	D	0.000000	T	0.21267	0.0512	L	0.57536	1.79	0.46849	D	0.99922	B	0.15141	0.012	B	0.17979	0.02	T	0.03231	-1.1058	10	0.51188	T	0.08	.	9.1148	0.36750	0.0:0.7685:0.0:0.2315	.	87	Q9NVM6	DJC17_HUMAN	H	87	ENSP00000220496:Q87H	ENSP00000220496:Q87H	Q	-	3	2	DNAJC17	38858747	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	0.725000	0.25970	0.753000	0.32945	-0.142000	0.14014	CAG	DNAJC17	-	NULL		0.507	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC17	HGNC	protein_coding	OTTHUMT00000252356.2	C	NM_018163		41071455	-1	no_errors	ENST00000220496	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAJC17	55192	genome.wustl.edu	37	15	41071466	41071466	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:41071466C>G	ENST00000220496.4	-	4	280	c.250G>C	c.(250-252)Gag>Cag	p.E84Q		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	84					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGGGTCCTCTCTGCTGCTTGC	0.517																																																	0													255.0	201.0	219.0					15																	41071466		2203	4300	6503	SO:0001583	missense	55192			AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"""Heat shock proteins / DNAJ (HSP40)"", ""RNA binding motif (RRM) containing"""	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.250G>C	15.37:g.41071466C>G	ENSP00000220496:p.Glu84Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DnaJ_N,pfam_RRM_dom,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E84Q	ENST00000220496.4	37	c.250	CCDS10065.1	15	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288463	0.59976	.	.	ENSG00000104129	ENST00000220496	T	0.19105	2.17	5.52	5.52	0.82312	Heat shock protein DnaJ, N-terminal (2);	0.090781	0.85682	D	0.000000	T	0.24624	0.0597	L	0.61387	1.9	0.54753	D	0.999983	B	0.06786	0.001	B	0.14023	0.01	T	0.06144	-1.0843	10	0.16420	T	0.52	.	17.2117	0.86932	0.0:1.0:0.0:0.0	.	84	Q9NVM6	DJC17_HUMAN	Q	84	ENSP00000220496:E84Q	ENSP00000220496:E84Q	E	-	1	0	DNAJC17	38858758	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.805000	0.69143	2.603000	0.88011	0.650000	0.86243	GAG	DNAJC17	-	superfamily_DnaJ_N		0.517	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC17	HGNC	protein_coding	OTTHUMT00000252356.2	C	NM_018163		41071466	-1	no_errors	ENST00000220496	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAJC21	134218	genome.wustl.edu	37	5	34937497	34937497	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:34937497G>A	ENST00000342382.4	+	5	732	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	DNAJC21_ENST00000303525.7_Missense_Mutation_p.E169K|DNAJC21_ENST00000382021.2_Missense_Mutation_p.E169K			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	169					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ATGGAAGGAAGAATATGATAC	0.408																																																	0													66.0	67.0	67.0					5																	34937497		2203	4300	6503	SO:0001583	missense	134218				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.505G>A	5.37:g.34937497G>A	ENSP00000343728:p.Glu169Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E169K	ENST00000342382.4	37	c.505	CCDS34144.1	5	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289827	0.40494	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.48836	0.81;0.8;0.8	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.43678	0.1258	L	0.28054	0.825	0.80722	D	1	B;B;D	0.53745	0.024;0.112;0.962	B;B;P	0.47044	0.026;0.023;0.535	T	0.15607	-1.0431	10	0.22706	T	0.39	-31.3838	19.51	0.95137	0.0:0.0:1.0:0.0	.	169;169;169	Q5F1R6-3;Q5F1R6;Q5F1R6-2	.;DJC21_HUMAN;.	K	169	ENSP00000343728:E169K;ENSP00000371451:E169K;ENSP00000306289:E169K	ENSP00000306289:E169K	E	+	1	0	DNAJC21	34973254	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.566000	0.82347	2.672000	0.90937	0.650000	0.86243	GAA	DNAJC21	-	NULL		0.408	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC21	HGNC	protein_coding	OTTHUMT00000157337.1	G	NM_194283		34937497	+1	no_errors	ENST00000382021	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAJC18	202052	genome.wustl.edu	37	5	138755781	138755781	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:138755781C>G	ENST00000302060.5	-	7	993	c.913G>C	c.(913-915)Gat>Cat	p.D305H		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	305						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGATATAATCAATGTAATCC	0.448																																																	0													154.0	145.0	148.0					5																	138755781		2203	4300	6503	SO:0001583	missense	202052			AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"""Heat shock proteins / DNAJ (HSP40)"""	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.913G>C	5.37:g.138755781C>G	ENSP00000302843:p.Asp305His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.D305H	ENST00000302060.5	37	c.913	CCDS4214.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.86|14.86	2.661322|2.661322	0.47572|0.47572	.|.	.|.	ENSG00000170464|ENSG00000170464	ENST00000302060;ENST00000508445|ENST00000514052	T;T|.	0.42513|.	0.97;0.97|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Domain of unknown function DUF1977, DnaJ-like (1);|.	0.050735|.	0.85682|.	D|.	0.000000|.	T|T	0.71151|0.71151	0.3306|0.3306	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.68353|.	0.957|.	T|T	0.67597|0.67597	-0.5630|-0.5630	10|5	0.41790|.	T|.	0.15|.	-8.2106|-8.2106	18.1041|18.1041	0.89515|0.89515	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	305|.	Q9H819|.	DJC18_HUMAN|.	H|F	305;138|96	ENSP00000302843:D305H;ENSP00000426338:D138H|.	ENSP00000302843:D305H|.	D|L	-|-	1|3	0|2	DNAJC18|DNAJC18	138783680|138783680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.008000|0.008000	0.06430|0.06430	4.536000|4.536000	0.60636|0.60636	2.623000|2.623000	0.88846|0.88846	0.561000|0.561000	0.74099|0.74099	GAT|TTG	DNAJC18	-	pfam_DUF1977_DnaJ-like		0.448	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC18	HGNC	protein_coding	OTTHUMT00000374191.1	C	NM_152686		138755781	-1	no_errors	ENST00000302060	ensembl	human	known	70_37	missense	SNP	1.000	G
DNHD1	144132	genome.wustl.edu	37	11	6580204	6580204	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:6580204C>T	ENST00000527990.2	+	25	9284	c.9284C>T	c.(9283-9285)tCg>tTg	p.S3095L	DNHD1_ENST00000254579.6_Missense_Mutation_p.S3095L			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3095					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATCCACCTTTCGGCCACCCAC	0.567																																																	0													124.0	117.0	119.0					11																	6580204		692	1591	2283	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.9284C>T	11.37:g.6580204C>T	ENSP00000436180:p.Ser3095Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE	p.S3095L	ENST00000527990.2	37	c.9284	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359394	0.24598	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000524401;ENST00000526486;ENST00000526027	T;T	0.36157	1.27;1.27	6.03	5.12	0.69794	.	.	.	.	.	T	0.25865	0.0630	N	0.14661	0.345	0.32573	N	0.529539	D;P	0.55605	0.972;0.696	B;B	0.42087	0.375;0.075	T	0.35943	-0.9768	9	0.72032	D	0.01	.	14.277	0.66187	0.0:0.9279:0.0:0.0721	.	7;3095	E9PNB2;Q96M86	.;DNHD1_HUMAN	L	3095;3095;160;7;7	ENSP00000254579:S3095L;ENSP00000436180:S3095L	ENSP00000254579:S3095L	S	+	2	0	DNHD1	6536780	1.000000	0.71417	1.000000	0.80357	0.234000	0.25298	2.668000	0.46816	1.563000	0.49615	-0.140000	0.14226	TCG	DNHD1	-	NULL		0.567	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	C	NM_144666		6580204	+1	no_errors	ENST00000254579	ensembl	human	known	70_37	missense	SNP	1.000	T
DNTTIP2	30836	genome.wustl.edu	37	1	94342116	94342116	+	Missense_Mutation	SNP	C	C	G	rs371870982		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:94342116C>G	ENST00000436063.2	-	2	1432	c.1375G>C	c.(1375-1377)Gaa>Caa	p.E459Q	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		GTATCCTCTTCATTCTCACTG	0.398																																																	0													129.0	124.0	125.0					1																	94342116		1949	4158	6107	SO:0001583	missense	30836			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1375G>C	1.37:g.94342116C>G	ENSP00000411010:p.Glu459Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	pfam_Fcf2	p.E459Q	ENST00000436063.2	37	c.1375	CCDS44174.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149269	0.78001	.	.	ENSG00000067334	ENST00000436063	T	0.17370	2.28	5.04	5.04	0.67666	.	0.200178	0.35495	N	0.003174	T	0.34513	0.0900	M	0.72894	2.215	0.39969	D	0.974762	D	0.89917	1.0	D	0.71414	0.973	T	0.10382	-1.0632	10	0.62326	D	0.03	.	18.5707	0.91135	0.0:1.0:0.0:0.0	.	459	Q5QJE6	TDIF2_HUMAN	Q	459	ENSP00000411010:E459Q	ENSP00000352137:E459Q	E	-	1	0	DNTTIP2	94114704	0.978000	0.34361	0.995000	0.50966	0.803000	0.45373	4.197000	0.58413	2.609000	0.88269	0.655000	0.94253	GAA	DNTTIP2	-	NULL		0.398	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP2	HGNC	protein_coding	OTTHUMT00000028317.2	C	NM_014597		94342116	-1	no_errors	ENST00000436063	ensembl	human	known	70_37	missense	SNP	1.000	G
DNTTIP2	30836	genome.wustl.edu	37	1	94342815	94342815	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:94342815C>G	ENST00000436063.2	-	2	733	c.676G>C	c.(676-678)Gag>Cag	p.E226Q	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		ATCTGTTTCTCATTTCCTGGT	0.378																																																	0													157.0	156.0	156.0					1																	94342815		1867	4094	5961	SO:0001583	missense	30836			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.676G>C	1.37:g.94342815C>G	ENSP00000411010:p.Glu226Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	pfam_Fcf2	p.E226Q	ENST00000436063.2	37	c.676	CCDS44174.1	1	.	.	.	.	.	.	.	.	.	.	C	3.222	-0.159244	0.06544	.	.	ENSG00000067334	ENST00000436063	T	0.16324	2.35	4.61	1.61	0.23674	.	0.909770	0.09309	N	0.819830	T	0.06050	0.0157	L	0.57536	1.79	0.09310	N	0.999998	B	0.21905	0.062	B	0.20577	0.03	T	0.39800	-0.9596	10	0.38643	T	0.18	.	5.7344	0.18059	0.0:0.66:0.1595:0.1804	.	226	Q5QJE6	TDIF2_HUMAN	Q	226	ENSP00000411010:E226Q	ENSP00000352137:E226Q	E	-	1	0	DNTTIP2	94115403	0.991000	0.36638	0.126000	0.21872	0.127000	0.20565	1.127000	0.31357	0.160000	0.19432	-0.291000	0.09656	GAG	DNTTIP2	-	NULL		0.378	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP2	HGNC	protein_coding	OTTHUMT00000028317.2	C	NM_014597		94342815	-1	no_errors	ENST00000436063	ensembl	human	known	70_37	missense	SNP	0.412	G
DOCK11	139818	genome.wustl.edu	37	X	117731498	117731498	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:117731498G>A	ENST00000276202.7	+	21	2431	c.2368G>A	c.(2368-2370)Gat>Aat	p.D790N	DOCK11_ENST00000276204.6_Missense_Mutation_p.D790N	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	790	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GAATCTGAATGATGCAGAATC	0.403																																																	0													94.0	84.0	87.0					X																	117731498		2203	4300	6503	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2368G>A	X.37:g.117731498G>A	ENSP00000276202:p.Asp790Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D790N	ENST00000276202.7	37	c.2368	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555706	0.65425	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.14144	2.53;2.53	5.47	5.47	0.80525	.	0.263915	0.43260	D	0.000589	T	0.13628	0.0330	L	0.35341	1.055	0.51767	D	0.999939	B;B	0.12630	0.006;0.003	B;B	0.18263	0.021;0.021	T	0.05178	-1.0901	10	0.34782	T	0.22	-5.7909	17.4493	0.87587	0.0:0.0:1.0:0.0	.	790;790	A6NIW2;Q5JSL3	.;DOC11_HUMAN	N	790	ENSP00000276204:D790N;ENSP00000276202:D790N	ENSP00000276202:D790N	D	+	1	0	DOCK11	117615526	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.307000	0.51888	2.422000	0.82143	0.600000	0.82982	GAT	DOCK11	-	NULL		0.403	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	G	NM_144658		117731498	+1	no_errors	ENST00000276202	ensembl	human	known	70_37	missense	SNP	1.000	A
DOCK2	1794	genome.wustl.edu	37	5	169125422	169125422	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:169125422G>A	ENST00000256935.8	+	11	1104	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	342					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGAGTGATGAAGAAAAGCA	0.413																																																	0													215.0	197.0	203.0					5																	169125422		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1024G>A	5.37:g.169125422G>A	ENSP00000256935:p.Glu342Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain	p.E342K	ENST00000256935.8	37	c.1024	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	37	5.988614	0.97179	.	.	ENSG00000134516	ENST00000256935	T	0.18960	2.18	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	M	0.71581	2.175	0.80722	D	1	D	0.60575	0.988	P	0.54544	0.755	T	0.02933	-1.1092	10	0.23302	T	0.38	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	342	Q92608	DOCK2_HUMAN	K	342	ENSP00000256935:E342K	ENSP00000256935:E342K	E	+	1	0	DOCK2	169058000	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.336000	0.96533	2.824000	0.97209	0.655000	0.94253	GAA	DOCK2	-	NULL		0.413	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	G	NM_004946		169125422	+1	no_errors	ENST00000256935	ensembl	human	known	70_37	missense	SNP	1.000	A
DOCK2	1794	genome.wustl.edu	37	5	169506072	169506072	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:169506072G>C	ENST00000256935.8	+	49	5168	c.5088G>C	c.(5086-5088)cgG>cgC	p.R1696R	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.R1188R|DOCK2_ENST00000540750.1_Silent_p.R757R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1696					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAAGCTGCGGAGGTCCAAGA	0.572																																																	0													88.0	88.0	88.0					5																	169506072		2203	4300	6503	SO:0001819	synonymous_variant	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5088G>C	5.37:g.169506072G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3I0|Q96AK7	Silent	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain	p.R1696	ENST00000256935.8	37	c.5088	CCDS4371.1	5																																																																																			DOCK2	-	NULL		0.572	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	G	NM_004946		169506072	+1	no_errors	ENST00000256935	ensembl	human	known	70_37	silent	SNP	0.744	C
DOCK3	1795	genome.wustl.edu	37	3	51393850	51393850	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:51393850G>C	ENST00000266037.9	+	43	4452	c.4429G>C	c.(4429-4431)Gaa>Caa	p.E1477Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1477	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCTGTGGATTGAACGTACCAC	0.542																																																	0													130.0	125.0	127.0					3																	51393850		2066	4218	6284	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4429G>C	3.37:g.51393850G>C	ENSP00000266037:p.Glu1477Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.E1477Q	ENST00000266037.9	37	c.4429	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.112415	0.94339	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.18657	2.2	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.52240	0.1722	M	0.86953	2.85	0.80722	D	1	D	0.57571	0.98	P	0.62184	0.899	T	0.57860	-0.7738	10	0.62326	D	0.03	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	1477	Q8IZD9	DOCK3_HUMAN	Q	1477;273	ENSP00000266037:E1477Q	ENSP00000266037:E1477Q	E	+	1	0	DOCK3	51368890	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.813000	0.99286	2.733000	0.93635	0.655000	0.94253	GAA	DOCK3	-	pfam_DOCK_C		0.542	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	G	NM_004947		51393850	+1	no_errors	ENST00000266037	ensembl	human	known	70_37	missense	SNP	1.000	C
DOCK3	1795	genome.wustl.edu	37	3	51393915	51393915	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:51393915G>C	ENST00000266037.9	+	43	4517	c.4494G>C	c.(4492-4494)agG>agC	p.R1498S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1498	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAGTGGAGAGGAGGGAACTGG	0.542																																																	0													115.0	111.0	113.0					3																	51393915		2023	4185	6208	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4494G>C	3.37:g.51393915G>C	ENSP00000266037:p.Arg1498Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R1498S	ENST00000266037.9	37	c.4494	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	8.664	0.901249	0.17760	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.16324	2.35	5.49	2.63	0.31362	.	0.095239	0.64402	D	0.000001	T	0.06050	0.0157	N	0.03154	-0.405	0.40118	D	0.976564	P	0.41188	0.741	B	0.39935	0.314	T	0.30966	-0.9960	10	0.05959	T	0.93	.	9.1426	0.36912	0.4115:0.0:0.5885:0.0	.	1498	Q8IZD9	DOCK3_HUMAN	S	1498;294	ENSP00000266037:R1498S	ENSP00000266037:R1498S	R	+	3	2	DOCK3	51368955	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	1.721000	0.38032	0.365000	0.24400	-0.797000	0.03246	AGG	DOCK3	-	pfam_DOCK_C		0.542	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	G	NM_004947		51393915	+1	no_errors	ENST00000266037	ensembl	human	known	70_37	missense	SNP	1.000	C
DOCK3	1795	genome.wustl.edu	37	3	51418883	51418883	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:51418883G>C	ENST00000266037.9	+	53	6009	c.5986G>C	c.(5986-5988)Gag>Cag	p.E1996Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1996					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCTGCGTGAAGAGACTGAGAG	0.706																																																	0													14.0	17.0	16.0					3																	51418883		2060	4184	6244	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5986G>C	3.37:g.51418883G>C	ENSP00000266037:p.Glu1996Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.E1996Q	ENST00000266037.9	37	c.5986	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712545	0.48517	.	.	ENSG00000088538	ENST00000266037	T	0.04654	3.58	6.17	6.17	0.99709	.	0.182364	0.40554	N	0.001074	T	0.04092	0.0114	N	0.14661	0.345	0.31169	N	0.703442	B	0.27498	0.18	B	0.21546	0.035	T	0.25984	-1.0116	10	0.35671	T	0.21	.	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	1996	Q8IZD9	DOCK3_HUMAN	Q	1996	ENSP00000266037:E1996Q	ENSP00000266037:E1996Q	E	+	1	0	DOCK3	51393923	1.000000	0.71417	0.889000	0.34880	0.913000	0.54294	5.984000	0.70548	2.941000	0.99782	0.655000	0.94253	GAG	DOCK3	-	NULL		0.706	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	G	NM_004947		51418883	+1	no_errors	ENST00000266037	ensembl	human	known	70_37	missense	SNP	1.000	C
DOCK3	1795	genome.wustl.edu	37	3	51418899	51418899	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:51418899G>C	ENST00000266037.9	+	53	6025	c.6002G>C	c.(6001-6003)cGa>cCa	p.R2001P		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	2001					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GAGAGGCCTCGAGGCCTGCAC	0.706																																																	0													11.0	14.0	13.0					3																	51418899		2048	4186	6234	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.6002G>C	3.37:g.51418899G>C	ENSP00000266037:p.Arg2001Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R2001P	ENST00000266037.9	37	c.6002	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905375	0.52333	.	.	ENSG00000088538	ENST00000266037	T	0.10763	2.84	6.17	6.17	0.99709	.	0.133861	0.47455	D	0.000235	T	0.11153	0.0272	L	0.27053	0.805	0.47994	D	0.999567	P	0.42757	0.789	B	0.39503	0.301	T	0.08289	-1.0729	10	0.31617	T	0.26	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2001	Q8IZD9	DOCK3_HUMAN	P	2001	ENSP00000266037:R2001P	ENSP00000266037:R2001P	R	+	2	0	DOCK3	51393939	1.000000	0.71417	0.862000	0.33874	0.982000	0.71751	7.034000	0.76511	2.941000	0.99782	0.655000	0.94253	CGA	DOCK3	-	NULL		0.706	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	G	NM_004947		51418899	+1	no_errors	ENST00000266037	ensembl	human	known	70_37	missense	SNP	0.994	C
DOCK4	9732	genome.wustl.edu	37	7	111629071	111629071	+	Splice_Site	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:111629071C>G	ENST00000437633.1	-	6	719	c.463G>C	c.(463-465)Gaa>Caa	p.E155Q	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Splice_Site_p.E155Q	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	155					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.E155Q(1)|p.E143Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AATACTCACTCATTGCCCCAG	0.567																																																	2	Substitution - Missense(2)	lung(2)											53.0	55.0	54.0					7																	111629071		2052	4191	6243	SO:0001630	splice_region_variant	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.464+1G>C	7.37:g.111629071C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain	p.E155Q	ENST00000437633.1	37	c.463	CCDS47688.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.465087|4.465087	0.84425|0.84425	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000445943	T;T|.	0.02837|.	4.14;4.14|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.100558|.	0.64402|.	D|.	0.000002|.	T|T	0.69214|0.69214	0.3086|0.3086	L|L	0.48174|0.48174	1.505|1.505	0.80722|0.80722	D|D	1|1	B;P;P;P|.	0.41420|.	0.193;0.57;0.749;0.749|.	B;B;B;B|.	0.40741|.	0.091;0.269;0.339;0.258|.	T|T	0.64786|0.64786	-0.6325|-0.6325	10|5	0.41790|.	T|.	0.15|.	.|.	18.6737|18.6737	0.91521|0.91521	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	155;155;155;155|.	A4D0S8;Q149N6;Q149N5;Q8N1I0|.	.;.;.;DOCK4_HUMAN|.	Q|I	143;155;155;143;154|142	ENSP00000410746:E155Q;ENSP00000404179:E155Q|.	ENSP00000345432:E143Q|.	E|M	-|-	1|3	0|0	DOCK4|DOCK4	111416307|111416307	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	7.768000|7.768000	0.85345|0.85345	2.637000|2.637000	0.89404|0.89404	0.561000|0.561000	0.74099|0.74099	GAA|ATG	DOCK4	-	NULL		0.567	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	C	NM_014705	Missense_Mutation	111629071	-1	no_errors	ENST00000428084	ensembl	human	known	70_37	missense	SNP	1.000	G
DOCK6	57572	genome.wustl.edu	37	19	11362920	11362920	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:11362920G>C	ENST00000294618.7	-	5	393	c.382C>G	c.(382-384)Cag>Gag	p.Q128E		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	128					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CTCAGGTACTGATACCTAGCA	0.617																																																	0													29.0	32.0	31.0					19																	11362920		2009	4170	6179	SO:0001583	missense	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.382C>G	19.37:g.11362920G>C	ENSP00000294618:p.Gln128Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N	p.Q128E	ENST00000294618.7	37	c.382	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850482	0.32699	.	.	ENSG00000130158	ENST00000294618	T	0.43294	0.95	4.16	4.16	0.48862	.	0.146684	0.46145	D	0.000303	T	0.44138	0.1279	L	0.46157	1.445	0.80722	D	1	P	0.36183	0.542	B	0.42462	0.388	T	0.46775	-0.9167	10	0.48119	T	0.1	-28.4001	15.626	0.76859	0.0:0.0:1.0:0.0	.	128	Q96HP0	DOCK6_HUMAN	E	128	ENSP00000294618:Q128E	ENSP00000294618:Q128E	Q	-	1	0	DOCK6	11223920	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	6.276000	0.72601	2.034000	0.60081	0.561000	0.74099	CAG	DOCK6	-	pfam_DOCK_C/D_N		0.617	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	G	NM_020812		11362920	-1	no_errors	ENST00000294618	ensembl	human	known	70_37	missense	SNP	1.000	C
DOCK7	85440	genome.wustl.edu	37	1	62976295	62976295	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:62976295C>G	ENST00000340370.5	-	33	4256	c.4239G>C	c.(4237-4239)tgG>tgC	p.W1413C	DOCK7_ENST00000251157.5_Missense_Mutation_p.W1435C	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1444					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TATCTTTCCTCCACCTCAAAT	0.358																																																	0													110.0	106.0	107.0					1																	62976295		2203	4300	6503	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4239G>C	1.37:g.62976295C>G	ENSP00000340742:p.Trp1413Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.W1435C	ENST00000340370.5	37	c.4305	CCDS30734.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.210678|4.210678	0.79240|0.79240	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.48201	.|0.82;0.82	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|0.136399	.|0.53938	.|D	.|0.000055	T|T	0.69611|0.69611	0.3130|0.3130	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	.|P;D;P;P;P;D	.|0.60575	.|0.836;0.984;0.816;0.816;0.819;0.988	.|P;P;P;P;P;D	.|0.64042	.|0.548;0.878;0.58;0.58;0.794;0.921	T|T	0.75645|0.75645	-0.3246|-0.3246	5|10	.|0.87932	.|D	.|0	.|.	18.1644|18.1644	0.89721|0.89721	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1444;1435;1413;1404;1404;1435	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	Q|C	607|1444;1435;1413;174	.|ENSP00000251157:W1435C;ENSP00000340742:W1413C	.|ENSP00000251157:W1435C	E|W	-|-	1|3	0|0	DOCK7|DOCK7	62748883|62748883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	7.780000|7.780000	0.85658|0.85658	2.343000|2.343000	0.79666|0.79666	0.650000|0.650000	0.86243|0.86243	GAG|TGG	DOCK7	-	NULL		0.358	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	C	NM_033407		62976295	-1	no_errors	ENST00000251157	ensembl	human	known	70_37	missense	SNP	1.000	G
DOCK8	81704	genome.wustl.edu	37	9	334240	334240	+	Missense_Mutation	SNP	G	G	C	rs368637845		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:334240G>C	ENST00000453981.1	+	11	1253	c.1141G>C	c.(1141-1143)Gaa>Caa	p.E381Q	DOCK8_ENST00000469391.1_Missense_Mutation_p.E313Q|DOCK8_ENST00000432829.2_Missense_Mutation_p.E313Q			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	381					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGAAAAGATTGAAAAACTAAA	0.443																																																	0								G	GLN/GLU,GLN/GLU,GLN/GLU	1,4405	2.1+/-5.4	0,1,2202	61.0	62.0	61.0		937,937,1141	5.9	1.0	9		61	0,8600		0,0,4300	no	missense,missense,missense	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	29,29,29	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	313/2000,313/2032,381/2100	334240	1,13005	2203	4300	6503	SO:0001583	missense	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.1141G>C	9.37:g.334240G>C	ENSP00000408464:p.Glu381Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.E381Q	ENST00000453981.1	37	c.1141	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876119	0.91664	2.27E-4	0.0	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391	T;T;T	0.38077	1.16;1.16;1.16	5.87	5.87	0.94306	.	0.102371	0.64402	D	0.000002	T	0.53029	0.1771	L	0.49256	1.55	0.80722	D	1	D;D	0.69078	0.997;0.992	D;D	0.68483	0.958;0.934	T	0.24584	-1.0156	10	0.10636	T	0.68	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	313;381	E9PH09;Q8NF50	.;DOCK8_HUMAN	Q	381;381;313;313	ENSP00000408464:E381Q;ENSP00000394888:E313Q;ENSP00000419438:E313Q	ENSP00000287364:E381Q	E	+	1	0	DOCK8	324240	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.642000	0.98461	2.941000	0.99782	0.655000	0.94253	GAA	DOCK8	-	NULL		0.443	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	G	XM_036307		334240	+1	no_errors	ENST00000453981	ensembl	human	known	70_37	missense	SNP	1.000	C
DOCK8	81704	genome.wustl.edu	37	9	421049	421049	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:421049G>C	ENST00000453981.1	+	32	4236	c.4124G>C	c.(4123-4125)aGa>aCa	p.R1375T	DOCK8_ENST00000469391.1_Missense_Mutation_p.R1275T|DOCK8_ENST00000432829.2_Missense_Mutation_p.R1307T|DOCK8_ENST00000382329.1_Missense_Mutation_p.R842T|DOCK8_ENST00000493666.2_3'UTR			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1375					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAAGGGGCCAGAGGGGAGATG	0.577																																																	0													72.0	77.0	75.0					9																	421049		2203	4300	6503	SO:0001583	missense	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4124G>C	9.37:g.421049G>C	ENSP00000408464:p.Arg1375Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.R1375T	ENST00000453981.1	37	c.4124	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	G	33	5.223564	0.95139	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.02140	4.43;4.43;4.43;4.43	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.15046	0.0363	M	0.84846	2.72	0.80722	D	1	D;D;D	0.67145	0.991;0.996;0.992	D;D;D	0.65684	0.937;0.937;0.933	T	0.00297	-1.1838	10	0.41790	T	0.15	.	19.9813	0.97326	0.0:0.0:1.0:0.0	.	1275;842;1375	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	T	1375;1343;1307;1275;842	ENSP00000408464:R1375T;ENSP00000394888:R1307T;ENSP00000419438:R1275T;ENSP00000371766:R842T	ENSP00000287364:R1343T	R	+	2	0	DOCK8	411049	1.000000	0.71417	0.941000	0.38009	0.946000	0.59487	9.616000	0.98359	2.726000	0.93360	0.655000	0.94253	AGA	DOCK8	-	NULL		0.577	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	G	XM_036307		421049	+1	no_errors	ENST00000453981	ensembl	human	known	70_37	missense	SNP	1.000	C
DOCK8	81704	genome.wustl.edu	37	9	463533	463533	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:463533G>C	ENST00000453981.1	+	47	6197	c.6085G>C	c.(6085-6087)Gag>Cag	p.E2029Q	DOCK8_ENST00000469391.1_Missense_Mutation_p.E1929Q|RP11-165F24.3_ENST00000591577.1_RNA|RP11-165F24.3_ENST00000608617.1_RNA|RP11-165F24.3_ENST00000590518.1_RNA|RP11-165F24.3_ENST00000586805.1_RNA|DOCK8_ENST00000432829.2_Missense_Mutation_p.E1961Q|DOCK8_ENST00000382329.1_Missense_Mutation_p.E1496Q|RP11-165F24.3_ENST00000589287.1_RNA|RP11-165F24.3_ENST00000585819.1_RNA|RP11-165F24.3_ENST00000592805.1_RNA|RP11-165F24.3_ENST00000415004.2_RNA|RP11-165F24.3_ENST00000588474.1_RNA|RP11-165F24.3_ENST00000588989.1_RNA|RP11-165F24.3_ENST00000589387.1_RNA|RP11-165F24.3_ENST00000593137.1_RNA			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	2029	DHR-2.			E -> K (in Ref. 8; AAG42221). {ECO:0000305}.	blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGAAGCTGTAGAGAAAAACAA	0.383																																																	0													65.0	65.0	65.0					9																	463533		2203	4300	6503	SO:0001583	missense	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.6085G>C	9.37:g.463533G>C	ENSP00000408464:p.Glu2029Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.E2029Q	ENST00000453981.1	37	c.6085	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631219	0.46944	.	.	ENSG00000107099	ENST00000453981;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.04	5.04	0.67666	.	0.099482	0.64402	D	0.000002	T	0.20007	0.0481	L	0.31926	0.97	0.58432	D	0.999997	B;B;B	0.24721	0.062;0.062;0.11	B;B;B	0.32980	0.11;0.156;0.156	T	0.04140	-1.0974	10	0.40728	T	0.16	.	13.1582	0.59531	0.0798:0.0:0.9202:0.0	.	1929;1496;2029	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	Q	2029;1961;1929;1496	ENSP00000408464:E2029Q;ENSP00000394888:E1961Q;ENSP00000419438:E1929Q;ENSP00000371766:E1496Q	ENSP00000371766:E1496Q	E	+	1	0	DOCK8	453533	1.000000	0.71417	0.950000	0.38849	0.799000	0.45148	5.147000	0.64851	2.510000	0.84645	0.563000	0.77884	GAG	DOCK8	-	pfam_DOCK_C		0.383	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	G	XM_036307		463533	+1	no_errors	ENST00000453981	ensembl	human	known	70_37	missense	SNP	0.998	C
DOK6	220164	genome.wustl.edu	37	18	67344975	67344975	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:67344975G>C	ENST00000382713.5	+	4	485	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	99	PH.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TTCAGAGCTGGAGGCCGAGGA	0.527																																																	0													124.0	117.0	120.0					18																	67344975		2203	4300	6503	SO:0001583	missense	220164			AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.295G>C	18.37:g.67344975G>C	ENSP00000372160:p.Glu99Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.E99Q	ENST00000382713.5	37	c.295	CCDS32841.1	18	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858537	0.51376	.	.	ENSG00000206052	ENST00000382713	T	0.78246	-1.16	5.34	5.34	0.76211	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.052507	0.85682	D	0.000000	D	0.82508	0.5052	L	0.52573	1.65	0.58432	D	0.99999	P	0.40834	0.73	P	0.53518	0.728	T	0.80670	-0.1279	10	0.44086	T	0.13	-9.718	16.9217	0.86166	0.0:0.0:1.0:0.0	.	99	Q6PKX4	DOK6_HUMAN	Q	99	ENSP00000372160:E99Q	ENSP00000372160:E99Q	E	+	1	0	DOK6	65495955	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.221000	0.95188	2.937000	0.99478	0.650000	0.86243	GAG	DOK6	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology		0.527	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK6	HGNC	protein_coding	OTTHUMT00000442969.1	G	NM_152721		67344975	+1	no_errors	ENST00000382713	ensembl	human	known	70_37	missense	SNP	1.000	C
DOPEY1	23033	genome.wustl.edu	37	6	83848232	83848232	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:83848232G>C	ENST00000349129.2	+	21	4731	c.4471G>C	c.(4471-4473)Gaa>Caa	p.E1491Q	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E1472Q|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E1482Q	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1491					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GATGAGCATAGAAATTCTGAC	0.378																																																	0													81.0	87.0	85.0					6																	83848232		2203	4300	6503	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4471G>C	6.37:g.83848232G>C	ENSP00000195654:p.Glu1491Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.E1491Q	ENST00000349129.2	37	c.4471	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494033	0.44352	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.41065	1.01;1.01	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	M	0.62088	1.915	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.77557	0.99;0.986;0.986	T	0.56637	-0.7946	10	0.56958	D	0.05	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	1382;1482;1491	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	Q	1491;1472;1472	ENSP00000195654:E1491Q;ENSP00000237163:E1472Q	ENSP00000237163:E1472Q	E	+	1	0	DOPEY1	83904951	1.000000	0.71417	1.000000	0.80357	0.212000	0.24457	9.476000	0.97823	2.813000	0.96785	0.655000	0.94253	GAA	DOPEY1	-	superfamily_ARM-type_fold		0.378	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	G	NM_015018		83848232	+1	no_errors	ENST00000349129	ensembl	human	known	70_37	missense	SNP	1.000	C
DOT1L	84444	genome.wustl.edu	37	19	2226517	2226517	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:2226517G>A	ENST00000398665.3	+	27	4033	c.3997G>A	c.(3997-3999)Gat>Aat	p.D1333N		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1333					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTTCAGTGATGGTGCTTC	0.706																																																	0													17.0	22.0	20.0					19																	2226517		1904	4044	5948	SO:0001583	missense	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3997G>A	19.37:g.2226517G>A	ENSP00000381657:p.Asp1333Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.D1333N	ENST00000398665.3	37	c.3997	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154499	0.78114	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.45276	1.32;0.9	4.4	4.4	0.53042	.	0.000000	0.49916	D	0.000136	T	0.61776	0.2374	M	0.62723	1.935	0.31447	N	0.671186	D;D	0.76494	0.999;0.996	P;D	0.79784	0.886;0.993	T	0.69146	-0.5222	10	0.87932	D	0	-18.058	15.9698	0.80004	0.0:0.0:1.0:0.0	.	1333;1333	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	N	1333;1333;213	ENSP00000381657:D1333N;ENSP00000407411:D213N	ENSP00000221482:D1333N	D	+	1	0	DOT1L	2177517	1.000000	0.71417	0.959000	0.39883	0.520000	0.34377	5.378000	0.66190	2.005000	0.58758	0.462000	0.41574	GAT	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met		0.706	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	G	NM_032482		2226517	+1	no_errors	ENST00000398665	ensembl	human	known	70_37	missense	SNP	0.955	A
DPCR1	135656	genome.wustl.edu	37	6	30917485	30917485	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:30917485C>G	ENST00000462446.1	+	2	1272	c.1244C>G	c.(1243-1245)tCa>tGa	p.S415*	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	320	Thr-rich.					integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AAAACCACATCATCCTCAGCA	0.498																																																	0													151.0	146.0	148.0					6																	30917485		692	1591	2283	SO:0001587	stop_gained	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1244C>G	6.37:g.30917485C>G	ENSP00000417182:p.Ser415*	Somatic		WXS	Illumina HiSeq	Phase_IV	C9IZC0|Q658M7|Q8WYN2	Nonsense_Mutation	SNP	NULL	p.S415*	ENST00000462446.1	37	c.1244	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	-	16.84	3.234678	0.58886	.	.	ENSG00000168631	ENST00000462446	.	.	.	2.36	0.416	0.16416	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	4.4588	0.11656	0.0:0.3052:0.4715:0.2232	.	.	.	.	X	415	.	ENSP00000417182:S415X	S	+	2	0	DPCR1	31025464	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.435000	0.02423	0.115000	0.18071	0.525000	0.51046	TCA	DPCR1	-	NULL		0.498	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	C	NM_080870		30917485	+1	no_errors	ENST00000462446	ensembl	human	novel	70_37	nonsense	SNP	0.000	G
DPEP3	64180	genome.wustl.edu	37	16	68009858	68009858	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:68009858G>A	ENST00000268793.4	-	10	1725	c.1352C>T	c.(1351-1353)cCa>cTa	p.P451L	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	426					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)	p.P451fs*>64(1)		breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TTGCCCATATGGAAACTCAGC	0.612																																																	1	Insertion - Frameshift(1)	ovary(1)											70.0	78.0	75.0					16																	68009858		2198	4300	6498	SO:0001583	missense	64180			AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1352C>T	16.37:g.68009858G>A	ENSP00000268793:p.Pro451Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	pfam_Peptidase_M19	p.P451L	ENST00000268793.4	37	c.1352	CCDS10856.1	16	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467200	0.26335	.	.	ENSG00000141096	ENST00000268793	T	0.23147	1.92	4.73	2.78	0.32641	.	0.192237	0.45867	N	0.000335	T	0.27798	0.0684	M	0.77103	2.36	0.58432	D	0.999992	B	0.29085	0.232	B	0.29598	0.104	T	0.19877	-1.0292	10	0.87932	D	0	-3.1361	6.6343	0.22874	0.2087:0.0:0.7913:0.0	.	426	Q9H4B8	DPEP3_HUMAN	L	451	ENSP00000268793:P451L	ENSP00000268793:P451L	P	-	2	0	DPEP3	66567359	0.999000	0.42202	0.996000	0.52242	0.019000	0.09904	2.517000	0.45529	1.360000	0.45960	0.655000	0.94253	CCA	DPEP3	-	NULL		0.612	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPEP3	HGNC	protein_coding	OTTHUMT00000268875.3	G	NM_022357		68009858	-1	no_errors	ENST00000268793	ensembl	human	known	70_37	missense	SNP	0.952	A
DPH3	285381	genome.wustl.edu	37	3	16306188	16306188	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:16306188G>A	ENST00000488423.1	-	1	204				OXNAD1_ENST00000606098.1_5'Flank|OXNAD1_ENST00000605932.1_5'Flank|OXNAD1_ENST00000285083.5_5'Flank|DPH3_ENST00000285082.4_5'UTR|OXNAD1_ENST00000435829.2_5'Flank|DPH3_ENST00000383775.4_Intron	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN	diphthamide biosynthesis 3						negative regulation of protein secretion (GO:0050709)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of binding (GO:0051099)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(2)	2						GTGACACAGCGCAGCAAAGGC	0.607																																																	0																																										SO:0001627	intron_variant	285381			BC010181	CCDS2629.1, CCDS43058.1	3p25.1	2013-06-19	2013-06-19	2006-10-25	ENSG00000154813	ENSG00000154813			27717	protein-coding gene	gene with protein product	"""DPH3A, KTI11 homolog A (S. cerevisiae)"""	608959	"""zinc finger, CSL-type containing 2"", ""DPH3 homolog (KTI11, S. cerevisiae)"", ""DPH3, KTI11 homolog (S. cerevisiae)"""	ZCSL2		14527407, 14980502, 15485916, 16648478	Standard	NM_001047434		Approved	DESR1, DELGIP1, MGC20197, KTI11, DELGIP, DPH3A	uc003cau.3	Q96FX2	OTTHUMG00000129866	ENST00000488423.1:c.108+87C>T	3.37:g.16306188G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000488423.1	37	NULL	CCDS2629.1	3																																																																																			DPH3	-	-		0.607	DPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH3	HGNC	protein_coding	OTTHUMT00000252108.2	G	NM_206831		16306188	-1	no_errors	ENST00000285082	ensembl	human	known	70_37	rna	SNP	0.004	A
DPM3	54344	genome.wustl.edu	37	1	155112441	155112441	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155112441G>A	ENST00000341298.3	-	2	411	c.276C>T	c.(274-276)ttC>ttT	p.F92F	DPM3_ENST00000368400.4_Silent_p.F92F|DPM3_ENST00000368399.1_Silent_p.F122F			Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3	92					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan (GO:0018406)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mannosyltransferase complex (GO:0031501)|membrane (GO:0016020)				endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TAGGCTGTCAGAAGCGCAGCC	0.547																																																	0													63.0	69.0	67.0					1																	155112441		2203	4300	6503	SO:0001819	synonymous_variant	54344			AB028128	CCDS1094.1, CCDS1095.1	1q22	2013-02-26			ENSG00000179085	ENSG00000179085			3007	protein-coding gene	gene with protein product	"""DPM synthase complex subunit"""	605951				10835346	Standard	NM_018973		Approved	MGC34275, MGC125904, MGC125905	uc001fhm.3	Q9P2X0	OTTHUMG00000035335	ENST00000341298.3:c.276C>T	1.37:g.155112441G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SR62|Q5SR63|Q9BXN4|Q9BXN5	Silent	SNP	pfam_DPM3	p.F122	ENST00000341298.3	37	c.366	CCDS1095.1	1																																																																																			DPM3	-	NULL		0.547	DPM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPM3	HGNC	protein_coding	OTTHUMT00000085519.1	G	NM_153741		155112441	-1	no_errors	ENST00000368399	ensembl	human	known	70_37	silent	SNP	1.000	A
DPP8	54878	genome.wustl.edu	37	15	65743356	65743356	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:65743356C>G	ENST00000341861.5	-	19	4135	c.2555G>C	c.(2554-2556)gGa>gCa	p.G852A	DPP8_ENST00000560048.2_5'UTR|DPP8_ENST00000300141.6_Missense_Mutation_p.G836A|DPP8_ENST00000358939.4_Missense_Mutation_p.G736A|DPP8_ENST00000321118.7_Missense_Mutation_p.G803A|DPP8_ENST00000559233.1_Missense_Mutation_p.G852A|DPP8_ENST00000339244.5_Missense_Mutation_p.G679A|DPP8_ENST00000321147.6_Missense_Mutation_p.G801A	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	852					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATATGGCTTTCCAGCCCTCAC	0.368																																																	0													114.0	122.0	119.0					15																	65743356		2201	4299	6500	SO:0001583	missense	54878			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.2555G>C	15.37:g.65743356C>G	ENSP00000339208:p.Gly852Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.G852A	ENST00000341861.5	37	c.2555	CCDS10207.1	15	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719002	0.68844	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	5.31	5.31	0.75309	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.71978	0.3404	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.76494	0.985;0.985;0.999;0.985;0.988	D;D;D;P;D	0.87578	0.918;0.918;0.998;0.891;0.951	T	0.70788	-0.4777	10	0.38643	T	0.18	-19.9074	18.0007	0.89197	0.0:1.0:0.0:0.0	.	803;836;736;801;852	Q6V1X1-5;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	A	852;736;836;801;803;679	ENSP00000339208:G852A;ENSP00000351817:G736A;ENSP00000300141:G836A;ENSP00000318111:G801A;ENSP00000316373:G803A;ENSP00000341230:G679A	ENSP00000300141:G836A	G	-	2	0	DPP8	63530409	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.812000	0.86109	2.481000	0.83766	0.650000	0.86243	GGA	DPP8	-	pfam_Peptidase_S9		0.368	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPP8	HGNC	protein_coding	OTTHUMT00000256847.1	C	NM_017743		65743356	-1	no_errors	ENST00000341861	ensembl	human	known	70_37	missense	SNP	1.000	G
DPPA4	55211	genome.wustl.edu	37	3	109056348	109056348	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:109056348G>C	ENST00000335658.6	-	1	71	c.17C>G	c.(16-18)gCt>gGt	p.A6G	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	6					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGTAGAAGAAGCGGAGCCTCG	0.498																																																	0													144.0	117.0	127.0					3																	109056348		2203	4300	6503	SO:0001583	missense	55211			AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.17C>G	3.37:g.109056348G>C	ENSP00000335306:p.Ala6Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	NULL	p.A6G	ENST00000335658.6	37	c.17	CCDS33814.1	3	.	.	.	.	.	.	.	.	.	.	G	6.080	0.383088	0.11524	.	.	ENSG00000121570	ENST00000335658	T	0.25912	1.77	3.21	-4.26	0.03755	.	4.743100	0.00447	N	0.000081	T	0.15609	0.0376	L	0.36672	1.1	0.09310	N	1	B;B	0.30326	0.187;0.276	B;B	0.24701	0.055;0.042	T	0.06058	-1.0848	9	.	.	.	8.5277	0.8159	0.01102	0.3241:0.3179:0.1977:0.1603	.	6;6	B7Z595;Q7L190	.;DPPA4_HUMAN	G	6	ENSP00000335306:A6G	.	A	-	2	0	DPPA4	110539038	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.004000	0.03678	-1.009000	0.03400	0.563000	0.77884	GCT	DPPA4	-	NULL		0.498	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA4	HGNC	protein_coding	OTTHUMT00000353897.1	G	NM_018189		109056348	-1	no_errors	ENST00000335658	ensembl	human	known	70_37	missense	SNP	0.000	C
DPRX	503834	genome.wustl.edu	37	19	54140205	54140205	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:54140205C>G	ENST00000376650.1	+	3	590	c.539C>G	c.(538-540)tCt>tGt	p.S180C		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CATTCTGGCTCTCCTGCCTGT	0.438																																																	0													112.0	109.0	110.0					19																	54140205		2203	4300	6503	SO:0001583	missense	503834				CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.539C>G	19.37:g.54140205C>G	ENSP00000365838:p.Ser180Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S180C	ENST00000376650.1	37	c.539	CCDS33103.1	19	.	.	.	.	.	.	.	.	.	.	c	3.923	-0.017717	0.07681	.	.	ENSG00000204595	ENST00000376650	D	0.94862	-3.54	1.45	0.196	0.15159	.	.	.	.	.	D	0.83571	0.5283	N	0.19112	0.55	0.09310	N	1	P	0.40180	0.705	B	0.22601	0.04	T	0.76637	-0.2886	9	0.62326	D	0.03	.	3.4936	0.07646	0.0:0.6762:0.0:0.3238	.	180	A6NFQ7	DPRX_HUMAN	C	180	ENSP00000365838:S180C	ENSP00000365838:S180C	S	+	2	0	DPRX	58832017	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.277000	0.18734	0.090000	0.17273	-0.367000	0.07326	TCT	DPRX	-	NULL		0.438	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPRX	HGNC	protein_coding	OTTHUMT00000409880.1	C	NM_001012728		54140205	+1	no_errors	ENST00000376650	ensembl	human	known	70_37	missense	SNP	0.000	G
DPYSL3	1809	genome.wustl.edu	37	5	146792219	146792219	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:146792219C>T	ENST00000398514.3	-	6	944	c.573G>A	c.(571-573)ctG>ctA	p.L191L	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000343218.5_Silent_p.L305L	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	191					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGGCCCCCAGCTCTCCCA	0.502																																																	0													59.0	60.0	60.0					5																	146792219		1930	4117	6047	SO:0001819	synonymous_variant	1809			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.573G>A	5.37:g.146792219C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3SXQ8|Q93012	Silent	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.L191	ENST00000398514.3	37	c.573	CCDS43381.1	5																																																																																			DPYSL3	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.502	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL3	HGNC	protein_coding	OTTHUMT00000373421.2	C	NM_001387		146792219	-1	no_errors	ENST00000398514	ensembl	human	known	70_37	silent	SNP	1.000	T
DPYSL5	56896	genome.wustl.edu	37	2	27150209	27150209	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:27150209G>A	ENST00000288699.6	+	4	667	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	DPYSL5_ENST00000401478.1_Missense_Mutation_p.R170Q	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	170					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACATGCTTCGAGACAGTGAG	0.532																																																	0													130.0	95.0	107.0					2																	27150209		2203	4300	6503	SO:0001583	missense	56896			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.509G>A	2.37:g.27150209G>A	ENSP00000288699:p.Arg170Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.R170Q	ENST00000288699.6	37	c.509	CCDS1730.1	2	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717885	0.68844	.	.	ENSG00000157851	ENST00000288699;ENST00000401478;ENST00000431402;ENST00000434719	D;D;T;T	0.90004	-2.6;-2.6;-1.03;-1.02	5.63	5.63	0.86233	Amidohydrolase 1 (1);	0.109437	0.64402	D	0.000020	D	0.82829	0.5122	L	0.28400	0.85	0.40901	D	0.984153	P	0.43607	0.812	B	0.36534	0.227	T	0.82404	-0.0474	9	.	.	.	-11.5226	18.8276	0.92124	0.0:0.0:1.0:0.0	.	170	Q9BPU6	DPYL5_HUMAN	Q	170	ENSP00000288699:R170Q;ENSP00000385549:R170Q;ENSP00000399581:R170Q;ENSP00000413075:R170Q	.	R	+	2	0	DPYSL5	27003713	0.999000	0.42202	0.995000	0.50966	0.998000	0.95712	3.661000	0.54503	2.826000	0.97356	0.655000	0.94253	CGA	DPYSL5	-	pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase		0.532	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	HGNC	protein_coding	OTTHUMT00000214187.2	G	NM_020134		27150209	+1	no_errors	ENST00000288699	ensembl	human	known	70_37	missense	SNP	1.000	A
DPYSL5	56896	genome.wustl.edu	37	2	27169819	27169819	+	Missense_Mutation	SNP	C	C	T	rs373724609		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:27169819C>T	ENST00000288699.6	+	13	1809	c.1651C>T	c.(1651-1653)Cgg>Tgg	p.R551W	DPYSL5_ENST00000401478.1_Missense_Mutation_p.R551W	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	551					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTTCAGCTCGGATCCTCGC	0.607																																																	0													94.0	74.0	80.0					2																	27169819		2203	4300	6503	SO:0001583	missense	56896			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1651C>T	2.37:g.27169819C>T	ENSP00000288699:p.Arg551Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.R551W	ENST00000288699.6	37	c.1651	CCDS1730.1	2	.	.	.	.	.	.	.	.	.	.	c	19.76	3.887408	0.72410	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.89552	-2.53;-2.53	5.66	3.76	0.43208	.	0.000000	0.85682	D	0.000000	D	0.94716	0.8295	M	0.88979	2.995	0.45502	D	0.998466	D	0.89917	1.0	D	0.87578	0.998	D	0.95312	0.8413	10	0.87932	D	0	-18.7553	12.8545	0.57878	0.4207:0.5793:0.0:0.0	.	551	Q9BPU6	DPYL5_HUMAN	W	551	ENSP00000288699:R551W;ENSP00000385549:R551W	ENSP00000288699:R551W	R	+	1	2	DPYSL5	27023323	0.424000	0.25490	0.998000	0.56505	0.996000	0.88848	0.689000	0.25437	1.360000	0.45960	0.542000	0.68232	CGG	DPYSL5	-	NULL		0.607	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	HGNC	protein_coding	OTTHUMT00000214187.2	C	NM_020134		27169819	+1	no_errors	ENST00000288699	ensembl	human	known	70_37	missense	SNP	0.999	T
DRD3	1814	genome.wustl.edu	37	3	113850143	113850143	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:113850143C>G	ENST00000460779.1	-	7	1117	c.828G>C	c.(826-828)ttG>ttC	p.L276F	DRD3_ENST00000383673.2_Missense_Mutation_p.L276F|DRD3_ENST00000295881.7_Missense_Mutation_p.L276F|DRD3_ENST00000467632.1_Missense_Mutation_p.L276F	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	276					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCTCTCTTTTCAACTCTCCTC	0.517																																																	0													182.0	186.0	185.0					3																	113850143		2203	4300	6503	SO:0001583	missense	1814				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.828G>C	3.37:g.113850143C>G	ENSP00000419402:p.Leu276Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4V5|Q4VBM8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.L276F	ENST00000460779.1	37	c.828	CCDS2978.1	3	.	.	.	.	.	.	.	.	.	.	C	0.050	-1.252916	0.01457	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.73469	-0.73;-0.73;-0.73;-0.75	5.52	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	1.350910	0.04620	N	0.401860	T	0.72078	0.3416	L	0.60012	1.86	0.09310	N	1	B;B;B;B	0.27013	0.166;0.166;0.166;0.03	B;B;B;B	0.35073	0.195;0.126;0.126;0.012	T	0.53570	-0.8420	10	0.20046	T	0.44	.	4.4871	0.11796	0.2143:0.5991:0.0:0.1866	.	276;276;276;276	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	F	276	ENSP00000419402:L276F;ENSP00000420662:L276F;ENSP00000373169:L276F;ENSP00000295881:L276F	ENSP00000281274:L276F	L	-	3	2	DRD3	115332833	0.981000	0.34729	0.025000	0.17156	0.027000	0.11550	1.512000	0.35812	0.823000	0.34589	-0.157000	0.13467	TTG	DRD3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.517	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD3	HGNC	protein_coding	OTTHUMT00000354699.1	C	NM_000796.3		113850143	-1	no_errors	ENST00000383673	ensembl	human	known	70_37	missense	SNP	0.014	G
DROSHA	29102	genome.wustl.edu	37	5	31409384	31409384	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:31409384C>G	ENST00000511367.2	-	31	3967	c.3723G>C	c.(3721-3723)atG>atC	p.M1241I	DROSHA_ENST00000513349.1_Missense_Mutation_p.M1204I|DROSHA_ENST00000344624.3_Missense_Mutation_p.M1241I|DROSHA_ENST00000442743.1_Missense_Mutation_p.M1204I	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1241	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGCAGACATTCATGAAAGTAT	0.338																																																	0													56.0	49.0	51.0					5																	31409384		1833	4097	5930	SO:0001583	missense	29102			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3723G>C	5.37:g.31409384C>G	ENSP00000425979:p.Met1241Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.M1241I	ENST00000511367.2	37	c.3723	CCDS47195.1	5	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385927	0.42308	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.34	5.34	0.76211	Ribonuclease III (3);	0.080239	0.85682	D	0.000000	T	0.15739	0.0379	N	0.00859	-1.14	0.80722	D	1	B;B	0.17852	0.024;0.012	B;B	0.19148	0.024;0.01	T	0.15665	-1.0429	10	0.27082	T	0.32	-18.9812	19.0541	0.93056	0.0:1.0:0.0:0.0	.	1204;1241	E7EMP9;Q9NRR4	.;RNC_HUMAN	I	1241;1241;1204;1204;1166	ENSP00000425979:M1241I;ENSP00000339845:M1241I;ENSP00000409335:M1204I;ENSP00000424161:M1204I	ENSP00000265075:M1166I	M	-	3	0	DROSHA	31445141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.037000	0.76531	2.508000	0.84585	0.655000	0.94253	ATG	DROSHA	-	superfamily_RNase_III_dom,smart_RNase_III_dom		0.338	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	C	NM_013235		31409384	-1	no_errors	ENST00000344624	ensembl	human	known	70_37	missense	SNP	1.000	G
DST	667	genome.wustl.edu	37	6	56465020	56465020	+	Splice_Site	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:56465020C>G	ENST00000361203.3	-	41	10916		c.e41-1		DST_ENST00000446842.2_Splice_Site|DST_ENST00000312431.6_Splice_Site|DST_ENST00000421834.2_Splice_Site|DST_ENST00000370788.2_Splice_Site|DST_ENST00000370754.5_Splice_Site|DST_ENST00000244364.6_Splice_Site|DST_ENST00000370769.4_Splice_Site			Q03001	DYST_HUMAN	dystonin						axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGCTACAATCTAAAGTGAAG	0.378																																																	0													126.0	119.0	121.0					6																	56465020		1841	4085	5926	SO:0001630	splice_region_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.10909-1G>C	6.37:g.56465020C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Splice_Site	SNP	-	e45-1	ENST00000361203.3	37	c.11449-1		6	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792616	0.70452	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DST	56572979	1.000000	0.71417	0.399000	0.26333	0.756000	0.42949	7.093000	0.76937	2.878000	0.98634	0.650000	0.86243	.	DST	-	-		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723	Intron	56465020	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	splice_site	SNP	1.000	G
DST	667	genome.wustl.edu	37	6	56469029	56469029	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:56469029C>G	ENST00000361203.3	-	36	9771	c.9764G>C	c.(9763-9765)aGa>aCa	p.R3255T	DST_ENST00000446842.2_Missense_Mutation_p.R2929T|DST_ENST00000312431.6_Missense_Mutation_p.R3255T|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.R3433T|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.R3255T			Q03001	DYST_HUMAN	dystonin	3255					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTTAATTCTCTCATCAATTC	0.343																																																	0													38.0	35.0	36.0					6																	56469029		1825	4081	5906	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.9764G>C	6.37:g.56469029C>G	ENSP00000354508:p.Arg3255Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.R3433T	ENST00000361203.3	37	c.10298		6	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189908	0.38707	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.80824	0.03;0.03;0.99;-1.42;0.03;-0.19	5.66	1.2	0.21068	.	0.516425	0.17397	N	0.175711	T	0.58694	0.2140	.	.	.	0.24248	N	0.995334	P	0.38504	0.634	B	0.36845	0.234	T	0.51348	-0.8717	8	0.56958	D	0.05	.	9.4066	0.38466	0.0:0.6452:0.0:0.3548	.	2929	Q03001-9	.	T	3433;3255;2929;3255;3255;2929	ENSP00000359790:R3433T;ENSP00000359805:R3255T;ENSP00000393645:R2929T;ENSP00000307959:R3255T;ENSP00000354508:R3255T;ENSP00000404924:R2929T	ENSP00000307959:R3255T	R	-	2	0	DST	56576988	0.952000	0.32445	0.964000	0.40570	0.740000	0.42216	0.702000	0.25631	0.196000	0.20367	0.655000	0.94253	AGA	DST	-	superfamily_ABC_transptrTM_dom_typ1		0.343	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56469029	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	0.981	G
DST	667	genome.wustl.edu	37	6	56504497	56504497	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:56504497G>C	ENST00000361203.3	-	16	2068	c.2061C>G	c.(2059-2061)ctC>ctG	p.L687L	DST_ENST00000446842.2_Silent_p.L361L|DST_ENST00000312431.6_Silent_p.L687L|DST_ENST00000421834.2_Silent_p.L687L|DST_ENST00000370788.2_Silent_p.L687L|DST_ENST00000370754.5_Silent_p.L865L|DST_ENST00000244364.6_Silent_p.L361L|DST_ENST00000370765.6_Silent_p.L361L|DST_ENST00000518935.1_Silent_p.L361L|DST_ENST00000370769.4_Silent_p.L687L			Q03001	DYST_HUMAN	dystonin	687					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACTTACCAAGAGTTTTGCAT	0.313																																																	0													117.0	133.0	127.0					6																	56504497		2202	4297	6499	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2061C>G	6.37:g.56504497G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.L865	ENST00000361203.3	37	c.2595		6																																																																																			DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.313	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56504497	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	silent	SNP	0.907	C
DST	667	genome.wustl.edu	37	6	56707877	56707877	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:56707877C>G	ENST00000361203.3	-	1	74	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	DST_ENST00000312431.6_Missense_Mutation_p.E23Q|DST_ENST00000421834.2_Missense_Mutation_p.E23Q|DST_ENST00000370788.2_Missense_Mutation_p.E23Q|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Missense_Mutation_p.E23Q|RP11-472M19.2_ENST00000426453.1_RNA			Q03001	DYST_HUMAN	dystonin	23					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGACATCCTCGTAGGCCTGG	0.552																																																	0													54.0	64.0	61.0					6																	56707877		2020	4179	6199	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.67G>C	6.37:g.56707877C>G	ENSP00000354508:p.Glu23Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E23Q	ENST00000361203.3	37	c.67		6	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390035	0.82902	.	.	ENSG00000151914	ENST00000370769;ENST00000421834;ENST00000312431;ENST00000370788;ENST00000361203	D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72	5.59	5.59	0.84812	Calponin homology domain (1);	.	.	.	.	D	0.97642	0.9227	.	.	.	0.26270	N	0.978444	D	0.76494	0.999	D	0.81914	0.995	D	0.98249	1.0492	7	0.87932	D	0	.	17.3772	0.87396	0.0:1.0:0.0:0.0	.	23	Q03001	DYST_HUMAN	Q	23	ENSP00000359805:E23Q;ENSP00000400883:E23Q;ENSP00000307959:E23Q;ENSP00000359824:E23Q;ENSP00000354508:E23Q	ENSP00000307959:E23Q	E	-	1	0	DST	56815836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.850000	0.75420	2.620000	0.88729	0.561000	0.74099	GAG	DST	-	superfamily_CH-domain		0.552	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56707877	-1	no_errors	ENST00000370769	ensembl	human	known	70_37	missense	SNP	1.000	G
DSE	29940	genome.wustl.edu	37	6	116756828	116756828	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:116756828C>T	ENST00000331677.3	+	7	1641	c.1197C>T	c.(1195-1197)gtC>gtT	p.V399V	DSE_ENST00000537543.1_Silent_p.V418V|DSE_ENST00000452085.3_Silent_p.V399V|DSE_ENST00000359564.2_Silent_p.V399V			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	399					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ACTGGGGTGTCGTGACTTATG	0.423																																																	0													85.0	83.0	83.0					6																	116756828		2203	4300	6503	SO:0001819	synonymous_variant	29940			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1197C>T	6.37:g.116756828C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5R3K6	Silent	SNP	superfamily_Chondroitin_lyas	p.V418	ENST00000331677.3	37	c.1254	CCDS5107.1	6																																																																																			DSE	-	NULL		0.423	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	C	NM_013352		116756828	+1	no_errors	ENST00000537543	ensembl	human	known	70_37	silent	SNP	0.855	T
DTNA	1837	genome.wustl.edu	37	18	32398254	32398254	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:32398254C>G	ENST00000399113.3	+	7	836	c.836C>G	c.(835-837)tCt>tGt	p.S279C	DTNA_ENST00000348997.5_Missense_Mutation_p.S279C|DTNA_ENST00000554864.3_Missense_Mutation_p.S279C|DTNA_ENST00000598142.1_Missense_Mutation_p.S279C|DTNA_ENST00000269191.6_Missense_Mutation_p.S279C|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000597599.1_Missense_Mutation_p.S279C|DTNA_ENST00000591182.1_5'Flank|DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000283365.9_Missense_Mutation_p.S279C|DTNA_ENST00000597674.1_5'Flank|DTNA_ENST00000598334.1_Missense_Mutation_p.S279C|DTNA_ENST00000556414.3_5'Flank|DTNA_ENST00000399121.5_Missense_Mutation_p.S279C|DTNA_ENST00000444659.1_Missense_Mutation_p.S279C|DTNA_ENST00000269190.7_Missense_Mutation_p.S279C|DTNA_ENST00000595022.1_Missense_Mutation_p.S279C|DTNA_ENST00000598774.1_Missense_Mutation_p.S279C|DTNA_ENST00000315456.6_Missense_Mutation_p.S279C|DTNA_ENST00000599844.1_5'Flank|DTNA_ENST00000596745.1_Intron|AC068506.1_ENST00000408482.1_RNA|DTNA_ENST00000269192.7_5'Flank			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	279	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GCCGGTGGTTCTCATAGCAAC	0.502																																																	0													118.0	95.0	103.0					18																	32398254		2203	4300	6503	SO:0001583	missense	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.836C>G	18.37:g.32398254C>G	ENSP00000382064:p.Ser279Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.S279C	ENST00000399113.3	37	c.836	CCDS59311.1	18	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424085	0.83667	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	D;D;D;D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89	5.87	5.87	0.94306	Zinc finger, ZZ-type (3);	0.242422	0.44097	D	0.000492	D	0.95182	0.8438	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;P;D	0.89917	1.0;0.999;0.999;0.991;0.998;0.996;0.997;0.999;0.996;0.998;0.924;0.995	D;D;D;P;D;D;D;D;P;P;B;P	0.85130	0.997;0.971;0.946;0.895;0.917;0.927;0.926;0.971;0.895;0.879;0.391;0.879	D	0.94962	0.8109	10	0.66056	D	0.02	-15.7404	20.2084	0.98285	0.0:1.0:0.0:0.0	.	29;279;279;279;279;279;279;290;279;279;279;279	B7Z3X3;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	C	279	ENSP00000283365:S279C;ENSP00000322519:S279C;ENSP00000269190:S279C;ENSP00000336682:S279C;ENSP00000382072:S279C;ENSP00000405819:S279C;ENSP00000269191:S279C;ENSP00000382064:S279C	ENSP00000269190:S279C	S	+	2	0	DTNA	30652252	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.006000	0.70724	2.774000	0.95407	0.650000	0.86243	TCT	DTNA	-	pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ		0.502	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	DTNA	HGNC	protein_coding	OTTHUMT00000255422.2	C	NM_001390		32398254	+1	no_errors	ENST00000269190	ensembl	human	known	70_37	missense	SNP	1.000	G
DUOX2	50506	genome.wustl.edu	37	15	45404065	45404065	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:45404065G>A	ENST00000603300.1	-	5	616	c.414C>T	c.(412-414)ccC>ccT	p.P138P	DUOX2_ENST00000389039.6_Silent_p.P138P|DUOXA2_ENST00000323030.5_5'Flank	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	138	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.		P -> L (in dbSNP:rs2001616). {ECO:0000269|PubMed:11514595}.		adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGTCGAACACGGGGTCTCCAG	0.687																																																	0																																										SO:0001819	synonymous_variant	50506			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.414C>T	15.37:g.45404065G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.P138	ENST00000603300.1	37	c.414	CCDS10117.1	15																																																																																			DUOX2	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.687	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		G	NM_014080		45404065	-1	no_errors	ENST00000389039	ensembl	human	known	70_37	silent	SNP	0.003	A
DUSP26	78986	genome.wustl.edu	37	8	33454935	33454935	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:33454935C>T	ENST00000256261.4	-	2	616	c.99G>A	c.(97-99)gaG>gaA	p.E33E	DUSP26_ENST00000523956.1_Silent_p.E33E	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	33					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TTGGCATCTCCTCCAGGGTCC	0.552																																																	0													102.0	84.0	90.0					8																	33454935		2203	4300	6503	SO:0001819	synonymous_variant	78986			AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.99G>A	8.37:g.33454935C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSV8|Q9BTW0	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP	p.E33	ENST00000256261.4	37	c.99	CCDS6092.1	8																																																																																			DUSP26	-	NULL		0.552	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP26	HGNC	protein_coding	OTTHUMT00000376564.1	C	NM_024025		33454935	-1	no_errors	ENST00000256261	ensembl	human	known	70_37	silent	SNP	0.994	T
DUSP27	92235	genome.wustl.edu	37	1	167097351	167097351	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:167097351G>C	ENST00000361200.2	+	6	3149	c.2983G>C	c.(2983-2985)Gag>Cag	p.E995Q	DUSP27_ENST00000443333.1_Missense_Mutation_p.E995Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.E995Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	995	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CTCCTACCACGAGGCAAATGG	0.517																																																	0													84.0	79.0	81.0					1																	167097351		2203	4300	6503	SO:0001583	missense	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2983G>C	1.37:g.167097351G>C	ENSP00000354483:p.Glu995Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUM4|Q9C074	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.E995Q	ENST00000361200.2	37	c.2983	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	G	1.512	-0.549116	0.04024	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03386	3.95;3.95;3.95	5.42	3.38	0.38709	.	0.265830	0.26915	N	0.021851	T	0.01661	0.0053	L	0.38838	1.175	0.09310	N	1	B	0.21753	0.06	B	0.13407	0.009	T	0.41233	-0.9520	10	0.44086	T	0.13	-25.4021	17.7927	0.88561	0.0:0.3227:0.6773:0.0	.	995	Q5VZP5	DUS27_HUMAN	Q	995	ENSP00000354483:E995Q;ENSP00000271385:E995Q;ENSP00000404874:E995Q	ENSP00000271385:E995Q	E	+	1	0	DUSP27	165363975	0.985000	0.35326	0.220000	0.23810	0.251000	0.25915	2.201000	0.42734	1.243000	0.43853	0.643000	0.83706	GAG	DUSP27	-	NULL		0.517	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	G	NM_001080426		167097351	+1	no_errors	ENST00000271385	ensembl	human	known	70_37	missense	SNP	0.005	C
DUSP7	1849	genome.wustl.edu	37	3	52087974	52087974	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52087974C>G	ENST00000495880.1	-	2	1117	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	DUSP7_ENST00000296483.6_Missense_Mutation_p.E261Q			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	312	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGATGGCCTCAGGGAAGAAC	0.617																																																	0													117.0	118.0	117.0					3																	52087974		2203	4300	6503	SO:0001583	missense	1849			X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.934G>C	3.37:g.52087974C>G	ENSP00000417183:p.Glu312Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.E261Q	ENST00000495880.1	37	c.781	CCDS33766.2	3	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928740	0.92389	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	D;D;D	0.85773	-2.03;-2.03;-2.03	5.54	5.54	0.83059	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.90045	0.6891	L	0.58925	1.835	0.80722	D	1	P;D	0.61080	0.923;0.989	P;P	0.60949	0.567;0.881	D	0.88296	0.2946	10	0.37606	T	0.19	.	19.4497	0.94862	0.0:1.0:0.0:0.0	.	261;312	Q16829-2;Q16829	.;DUS7_HUMAN	Q	312;261;245	ENSP00000417183:E312Q;ENSP00000296483:E261Q;ENSP00000418566:E245Q	ENSP00000296483:E261Q	E	-	1	0	DUSP7	52063014	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.753000	0.85153	2.757000	0.94681	0.643000	0.83706	GAG	DUSP7	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP		0.617	DUSP7-001	NOVEL	basic|CCDS	protein_coding	DUSP7	HGNC	protein_coding	OTTHUMT00000349697.1	C	NM_001947		52087974	-1	no_errors	ENST00000296483	ensembl	human	known	70_37	missense	SNP	1.000	G
DVL1	1855	genome.wustl.edu	37	1	1273930	1273930	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:1273930G>C	ENST00000378888.5	-	12	1595	c.1311C>G	c.(1309-1311)ctC>ctG	p.L437L	DVL1_ENST00000378891.5_Silent_p.L412L			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	437	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)	p.L412L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGGTGATCTTGAGCCACATGC	0.672																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											57.0	55.0	56.0					1																	1273930		2202	4296	6498	SO:0001819	synonymous_variant	1855			AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1311C>G	1.37:g.1273930G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TA33|Q5TA35	Silent	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam	p.L437	ENST00000378888.5	37	c.1311		1																																																																																			DVL1	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom		0.672	DVL1-004	KNOWN	basic|appris_principal	protein_coding	DVL1	HGNC	protein_coding	OTTHUMT00000008490.1	G	NM_004421		1273930	-1	no_errors	ENST00000378888	ensembl	human	known	70_37	silent	SNP	1.000	C
DYNC1H1	1778	genome.wustl.edu	37	14	102510323	102510323	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:102510323G>A	ENST00000360184.4	+	70	12789	c.12625G>A	c.(12625-12627)Gag>Aag	p.E4209K	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4209	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGAATTTGGAGAGTCTGACCT	0.562																																																	0													89.0	77.0	81.0					14																	102510323		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12625G>A	14.37:g.102510323G>A	ENSP00000348965:p.Glu4209Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.E4209K	ENST00000360184.4	37	c.12625	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	33	5.240241	0.95240	.	.	ENSG00000197102	ENST00000360184	T	0.09538	2.97	5.83	5.83	0.93111	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	M	0.89601	3.045	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	T	0.43686	-0.9376	10	0.52906	T	0.07	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	4209	Q14204	DYHC1_HUMAN	K	4209	ENSP00000348965:E4209K	ENSP00000348965:E4209K	E	+	1	0	DYNC1H1	101580076	1.000000	0.71417	0.997000	0.53966	0.398000	0.30690	8.005000	0.88553	2.769000	0.95229	0.655000	0.94253	GAG	DYNC1H1	-	pfam_Dynein_heavy_dom,superfamily_Glutathione-S-Trfase_C-like		0.562	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	G	NM_001376		102510323	+1	no_errors	ENST00000360184	ensembl	human	known	70_37	missense	SNP	1.000	A
DYNC2H1	79659	genome.wustl.edu	37	11	103043833	103043833	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:103043833G>A	ENST00000375735.2	+	35	5501	c.5357G>A	c.(5356-5358)gGa>gAa	p.G1786E	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G1786E	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1786	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCTAATTCTGGAATTTTTATC	0.269																																																	0													16.0	15.0	15.0					11																	103043833		1734	3951	5685	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5357G>A	11.37:g.103043833G>A	ENSP00000364887:p.Gly1786Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.G1786E	ENST00000375735.2	37	c.5357	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790827	0.90367	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.17213	2.29;2.29	5.65	5.65	0.86999	ATPase, AAA+ type, core (1);	.	.	.	.	T	0.62011	0.2393	H	0.98048	4.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76591	-0.2903	9	0.87932	D	0	.	20.0752	0.97739	0.0:0.0:1.0:0.0	.	1786;1786	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	E	1786	ENSP00000364887:G1786E;ENSP00000381167:G1786E	ENSP00000364887:G1786E	G	+	2	0	DYNC2H1	102549043	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.952000	0.87827	2.826000	0.97356	0.491000	0.48974	GGA	DYNC2H1	-	smart_AAA+_ATPase		0.269	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	G	XM_370652		103043833	+1	no_errors	ENST00000398093	ensembl	human	known	70_37	missense	SNP	1.000	A
DYRK1A	1859	genome.wustl.edu	37	21	38862731	38862731	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:38862731G>A	ENST00000398960.2	+	6	994	c.919G>A	c.(919-921)Gac>Aac	p.D307N	DYRK1A_ENST00000398956.2_Missense_Mutation_p.D307N|DYRK1A_ENST00000451934.1_Missense_Mutation_p.D307N|DYRK1A_ENST00000455387.2_Missense_Mutation_p.D79N|DYRK1A_ENST00000339659.4_Missense_Mutation_p.D298N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.D307N|DYRK1A_ENST00000338785.3_Missense_Mutation_p.D307N	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	307	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAAGATAGTTGACTTTGGCAG	0.378																																					Melanoma(114;464 1602 31203 43785 45765)												0													79.0	78.0	79.0					21																	38862731		2203	4299	6502	SO:0001583	missense	1859			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.919G>A	21.37:g.38862731G>A	ENSP00000381932:p.Asp307Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D307N	ENST00000398960.2	37	c.919	CCDS42925.1	21	.	.	.	.	.	.	.	.	.	.	G	36	5.600927	0.96614	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	H	0.97186	3.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;0.999	D	0.98338	1.0537	10	0.87932	D	0	.	20.2989	0.98608	0.0:0.0:1.0:0.0	.	307;307;307;298;307	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	N	307;298;307;307;307;307;79	ENSP00000342690:D307N;ENSP00000340373:D298N;ENSP00000319032:D307N;ENSP00000416089:D307N;ENSP00000381932:D307N;ENSP00000381929:D307N;ENSP00000407854:D79N	ENSP00000319032:D307N	D	+	1	0	DYRK1A	37784601	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.767000	0.98960	2.794000	0.96219	0.573000	0.79308	GAC	DYRK1A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.378	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1	G	NM_001396		38862731	+1	no_errors	ENST00000398960	ensembl	human	known	70_37	missense	SNP	1.000	A
DYRK1B	9149	genome.wustl.edu	37	19	40319105	40319105	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:40319105C>G	ENST00000593685.1	-	6	1107	c.639G>C	c.(637-639)ctG>ctC	p.L213L	DYRK1B_ENST00000430012.2_Silent_p.L213L|DYRK1B_ENST00000597639.1_Silent_p.L213L|DYRK1B_ENST00000323039.5_Silent_p.L213L|DYRK1B_ENST00000348817.3_Silent_p.L213L			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCTTCCGGGTCAGGTTCAGCG	0.592																																																	0													68.0	64.0	66.0					19																	40319105		2203	4300	6503	SO:0001819	synonymous_variant	9149			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.639G>C	19.37:g.40319105C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O75258|O75788|O75789	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L213	ENST00000593685.1	37	c.639	CCDS12543.1	19																																																																																			DYRK1B	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.592	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DYRK1B	HGNC	protein_coding	OTTHUMT00000462874.2	C	NM_004714		40319105	-1	no_errors	ENST00000323039	ensembl	human	known	70_37	silent	SNP	1.000	G
DZIP1	22873	genome.wustl.edu	37	13	96239958	96239958	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:96239958C>T	ENST00000376829.2	-	20	2904	c.2053G>A	c.(2053-2055)Gag>Aag	p.E685K	DZIP1_ENST00000347108.3_Missense_Mutation_p.E685K|DZIP1_ENST00000361156.3_Missense_Mutation_p.E666K|DZIP1_ENST00000361396.2_Missense_Mutation_p.E666K	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	685					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCCTCCTGCTCCTCCTCTGAA	0.517																																																	0													78.0	67.0	71.0					13																	96239958		2203	4300	6503	SO:0001583	missense	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2053G>A	13.37:g.96239958C>T	ENSP00000366025:p.Glu685Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E685K	ENST00000376829.2	37	c.2053	CCDS9478.1	13	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071250	0.76301	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.15952	2.38;2.46;2.46;2.38	5.35	5.35	0.76521	.	0.381500	0.29572	N	0.011761	T	0.33673	0.0871	M	0.70275	2.135	0.41927	D	0.990548	D;D	0.56746	0.977;0.962	P;P	0.52309	0.695;0.498	T	0.08066	-1.0740	10	0.54805	T	0.06	-11.2337	17.2684	0.87093	0.0:1.0:0.0:0.0	.	666;685	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	K	685;666;666;685	ENSP00000257312:E685K;ENSP00000355018:E666K;ENSP00000355175:E666K;ENSP00000366025:E685K	ENSP00000257312:E685K	E	-	1	0	DZIP1	95037959	0.999000	0.42202	0.776000	0.31678	0.346000	0.29079	4.415000	0.59809	2.493000	0.84123	0.655000	0.94253	GAG	DZIP1	-	NULL		0.517	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DZIP1	HGNC	protein_coding	OTTHUMT00000045496.3	C	NM_014934		96239958	-1	no_errors	ENST00000347108	ensembl	human	known	70_37	missense	SNP	0.861	T
DZIP3	9666	genome.wustl.edu	37	3	108392964	108392964	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:108392964C>A	ENST00000361582.3	+	24	2859	c.2629C>A	c.(2629-2631)Cat>Aat	p.H877N	DZIP3_ENST00000463306.1_Missense_Mutation_p.H877N	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	877					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TGGTTTGCTTCATCTAGAGCA	0.408																																																	0													171.0	168.0	169.0					3																	108392964		2203	4299	6502	SO:0001583	missense	9666			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2629C>A	3.37:g.108392964C>A	ENSP00000355028:p.His877Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.H877N	ENST00000361582.3	37	c.2629	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304908	0.60305	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	D;D	0.83992	-1.79;-1.79	4.56	4.56	0.56223	.	0.142946	0.32518	N	0.005985	T	0.75781	0.3896	L	0.47716	1.5	0.35000	D	0.755917	P;P	0.48230	0.779;0.907	B;B	0.37989	0.262;0.258	D	0.83865	0.0270	10	0.51188	T	0.08	-14.1509	12.692	0.56980	0.0:1.0:0.0:0.0	.	495;877	D3DN61;Q86Y13	.;DZIP3_HUMAN	N	877	ENSP00000355028:H877N;ENSP00000419981:H877N	ENSP00000355028:H877N	H	+	1	0	DZIP3	109875654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.347000	0.52200	2.376000	0.81061	0.563000	0.77884	CAT	DZIP3	-	NULL		0.408	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	C	NM_014648		108392964	+1	no_errors	ENST00000361582	ensembl	human	known	70_37	missense	SNP	1.000	A
E2F3	1871	genome.wustl.edu	37	6	20480168	20480168	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:20480168G>A	ENST00000346618.3	+	2	551	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	E2F3_ENST00000535432.1_Missense_Mutation_p.R37Q	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	162					mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GCTGCACTACGAAGTCCAGAT	0.453																																																	0													57.0	53.0	54.0					6																	20480168		2203	4300	6503	SO:0001583	missense	1871			Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.485G>A	6.37:g.20480168G>A	ENSP00000262904:p.Arg162Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	pfam_E2F_TDP	p.R162Q	ENST00000346618.3	37	c.485	CCDS4545.1	6	.	.	.	.	.	.	.	.	.	.	G	19.26	3.792826	0.70452	.	.	ENSG00000112242	ENST00000378646;ENST00000346618;ENST00000535432	T;T	0.06933	3.24;3.26	6.16	6.16	0.99307	.	0.128702	0.56097	D	0.000026	T	0.01695	0.0054	N	0.19112	0.55	0.36715	D	0.880888	D;B	0.54047	0.964;0.397	B;B	0.30716	0.119;0.022	T	0.57087	-0.7871	10	0.15066	T	0.55	.	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	162;37	O00716;Q68DT0	E2F3_HUMAN;.	Q	47;162;37	ENSP00000262904:R162Q;ENSP00000443418:R37Q	ENSP00000262904:R162Q	R	+	2	0	E2F3	20588147	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	4.603000	0.61105	2.937000	0.99478	0.650000	0.86243	CGA	E2F3	-	NULL		0.453	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	E2F3	HGNC	protein_coding	OTTHUMT00000043828.1	G			20480168	+1	no_errors	ENST00000346618	ensembl	human	known	70_37	missense	SNP	0.993	A
E2F5	1875	genome.wustl.edu	37	8	86089801	86089801	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:86089801G>A	ENST00000416274.2	+	1	180	c.146G>A	c.(145-147)aGc>aAc	p.S49N	RP11-219B4.3_ENST00000520129.1_RNA|E2F5_ENST00000418930.2_Missense_Mutation_p.S49N|RP11-219B4.7_ENST00000562577.1_RNA|RP11-219B4.7_ENST00000566000.1_RNA|E2F5_ENST00000256117.5_Missense_Mutation_p.S49N	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	49					gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GGCGGCAGCAGCAGGCACGAG	0.746																																																	0													7.0	8.0	8.0					8																	86089801		2139	4254	6393	SO:0001583	missense	1875			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.146G>A	8.37:g.86089801G>A	ENSP00000398124:p.Ser49Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	pfam_E2F_TDP	p.S49N	ENST00000416274.2	37	c.146	CCDS47885.1	8	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895241	0.52121	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274	T;T;T	0.06933	3.24;3.26;3.25	3.55	3.55	0.40652	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.07638	0.0192	N	0.08118	0	0.80722	D	1	P;P	0.44139	0.827;0.734	P;B	0.49192	0.602;0.398	T	0.42498	-0.9448	10	0.52906	T	0.07	-8.1793	12.671	0.56866	0.0:0.0:1.0:0.0	.	49;49	Q15329-2;Q15329	.;E2F5_HUMAN	N	49	ENSP00000414312:S49N;ENSP00000256117:S49N;ENSP00000398124:S49N	ENSP00000256117:S49N	S	+	2	0	E2F5	86277053	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	6.055000	0.71103	1.801000	0.52704	0.462000	0.41574	AGC	E2F5	-	NULL		0.746	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	E2F5	HGNC	protein_coding	OTTHUMT00000380274.1	G	NM_001951		86089801	+1	no_errors	ENST00000256117	ensembl	human	known	70_37	missense	SNP	1.000	A
E2F7	144455	genome.wustl.edu	37	12	77421816	77421816	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:77421816C>G	ENST00000322886.7	-	11	2222	c.1987G>C	c.(1987-1989)Gaa>Caa	p.E663Q	E2F7_ENST00000416496.2_Missense_Mutation_p.E663Q	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	663					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GAAATCTCTTCTGCAGCAGGG	0.443																																																	0													119.0	112.0	115.0					12																	77421816		2203	4300	6503	SO:0001583	missense	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1987G>C	12.37:g.77421816C>G	ENSP00000323246:p.Glu663Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	pfam_E2F_TDP	p.E663Q	ENST00000322886.7	37	c.1987	CCDS9016.1	12	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523877	0.27299	.	.	ENSG00000165891	ENST00000322886;ENST00000339887;ENST00000416496;ENST00000550669	T;T;T	0.49432	0.78;0.78;0.78	5.85	-1.48	0.08745	.	1.531430	0.03682	N	0.245693	T	0.38799	0.1054	L	0.47716	1.5	0.09310	N	1	P;B	0.38504	0.634;0.112	B;B	0.33521	0.165;0.024	T	0.33752	-0.9856	10	0.28530	T	0.3	-0.7859	9.291	0.37786	0.0:0.5641:0.2916:0.1443	.	663;663	Q96AV8-2;Q96AV8	.;E2F7_HUMAN	Q	663;150;663;663	ENSP00000323246:E663Q;ENSP00000393639:E663Q;ENSP00000448245:E663Q	ENSP00000323246:E663Q	E	-	1	0	E2F7	75945947	0.000000	0.05858	0.015000	0.15790	0.001000	0.01503	-0.316000	0.08071	-0.162000	0.10964	-0.910000	0.02820	GAA	E2F7	-	NULL		0.443	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F7	HGNC	protein_coding	OTTHUMT00000406716.1	C	XM_084871		77421816	-1	no_errors	ENST00000322886	ensembl	human	known	70_37	missense	SNP	0.006	G
EBF3	253738	genome.wustl.edu	37	10	131760527	131760527	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:131760527G>C	ENST00000355311.5	-	4	428				EBF3_ENST00000368648.3_Intron			Q9H4W6	COE3_HUMAN	early B-cell factor 3						multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ATCAGGATTTGAGTGCTGCAC	0.483																																																	0													64.0	61.0	62.0					10																	131760527		2203	4300	6503	SO:0001627	intron_variant	253738				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.356-37C>G	10.37:g.131760527G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUY1|Q5T6H9|Q9H4W5	RNA	SNP	-	NULL	ENST00000355311.5	37	NULL		10																																																																																			EBF3	-	-		0.483	EBF3-001	KNOWN	basic|appris_principal	protein_coding	EBF3	HGNC	protein_coding	OTTHUMT00000051015.2	G	NM_001005463		131760527	-1	no_errors	ENST00000471715	ensembl	human	known	70_37	rna	SNP	0.000	C
EBF4	57593	genome.wustl.edu	37	20	2686251	2686251	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:2686251G>C	ENST00000609451.1	+	2	238	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	EBF4_ENST00000380648.4_Missense_Mutation_p.E52Q			Q9BQW3	COE4_HUMAN	early B-cell factor 4	56					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGCACATTTTGAGAAGCAGCC	0.612																																																	0													100.0	92.0	94.0					20																	2686251		692	1591	2283	SO:0001583	missense	57593			BC019106	CCDS46573.1	20p13	2008-10-23			ENSG00000088881	ENSG00000088881			29278	protein-coding gene	gene with protein product		609935				10718198	Standard	NM_001110514		Approved	KIAA1442, COE4, RP5-860F19.3, O/E-4	uc002wgt.4	Q9BQW3	OTTHUMG00000031709	ENST00000609451.1:c.166G>C	20.37:g.2686251G>C	ENSP00000477023:p.Glu56Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q1MTP7|Q5JY53|Q9NUB6|Q9P2A6	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.E156Q	ENST00000609451.1	37	c.466		20	.	.	.	.	.	.	.	.	.	.	G	32	5.176525	0.94846	.	.	ENSG00000088881	ENST00000380648;ENST00000342725	T;T	0.65178	-0.14;-0.14	4.86	4.86	0.63082	.	0.271431	0.26227	N	0.025584	T	0.74619	0.3740	M	0.73962	2.25	0.52501	D	0.999951	D	0.65815	0.995	P	0.56278	0.795	T	0.78996	-0.1983	10	0.87932	D	0	-16.4863	15.8423	0.78857	0.0:0.0:1.0:0.0	.	52	E9PEI2	.	Q	52;56	ENSP00000370022:E52Q;ENSP00000345030:E56Q	ENSP00000345030:E56Q	E	+	1	0	EBF4	2634251	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.408000	0.81797	0.491000	0.48974	GAG	EBF4	-	NULL		0.612	EBF4-011	PUTATIVE	basic|appris_candidate_longest	protein_coding	EBF4	HGNC	protein_coding	OTTHUMT00000471930.1	G	XM_938882		2686251	+1	no_errors	ENST00000449079	ensembl	human	known	70_37	missense	SNP	1.000	C
ECE2	9718	genome.wustl.edu	37	3	184001666	184001666	+	Missense_Mutation	SNP	G	G	A	rs201320198		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:184001666G>A	ENST00000402825.3	+	8	1264	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.E275K|ECE2_ENST00000357474.5_Missense_Mutation_p.E350K|ECE2_ENST00000404464.3_Missense_Mutation_p.E304K	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	422	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGGTGCTGGAGTTGGAGAT	0.597																																																	0													76.0	66.0	69.0					3																	184001666		2203	4300	6503	SO:0001583	missense	9718			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1264G>A	3.37:g.184001666G>A	ENSP00000384223:p.Glu422Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.E422K	ENST00000402825.3	37	c.1264	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878785	0.91740	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	4.3	4.3	0.51218	Peptidase M13 (1);	0.177457	0.49305	D	0.000150	T	0.75503	0.3858	L	0.38531	1.155	0.53688	D	0.999977	P;P;P;B;P;P;P	0.50156	0.661;0.866;0.932;0.018;0.917;0.855;0.866	P;P;P;B;P;P;P	0.54544	0.515;0.755;0.755;0.026;0.64;0.547;0.752	T	0.75602	-0.3261	10	0.39692	T	0.17	-24.9029	15.4844	0.75555	0.0:0.0:1.0:0.0	.	24;275;293;304;350;275;422	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	K	422;275;304;350;296	ENSP00000384223:E422K;ENSP00000352052:E275K;ENSP00000385846:E304K;ENSP00000350066:E350K;ENSP00000398444:E296K	ENSP00000350066:E350K	E	+	1	0	ECE2	185484360	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.326000	0.79133	2.222000	0.72286	0.650000	0.86243	GAG	ECE2	-	pfam_Peptidase_M13_N		0.597	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	G	NM_014693		184001666	+1	no_errors	ENST00000402825	ensembl	human	known	70_37	missense	SNP	1.000	A
ECI1	1632	genome.wustl.edu	37	16	2293398	2293398	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2293398C>T	ENST00000301729.4	-	5	531	c.484G>A	c.(484-486)Gac>Aac	p.D162N	ECI1_ENST00000562238.1_Missense_Mutation_p.D162N|RP11-304L19.11_ENST00000565709.1_RNA|ECI1_ENST00000570258.1_Missense_Mutation_p.D103N	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	162					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)			endometrium(1)|large_intestine(2)|lung(6)	9						ATGCGGTAGTCACAGGTCAGG	0.642																																																	0													83.0	76.0	78.0					16																	2293398		2198	4300	6498	SO:0001583	missense	1632				CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"""3,2 trans-enoyl-CoA isomerase"""	600305	"""dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)"", ""dodecenoyl-CoA isomerase"""	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.484G>A	16.37:g.2293398C>T	ENSP00000301729:p.Asp162Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Missense_Mutation	SNP	pfam_Crotonase_core	p.D162N	ENST00000301729.4	37	c.484	CCDS10464.1	16	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765654	0.69878	.	.	ENSG00000167969	ENST00000301729	D	0.91577	-2.87	4.52	4.52	0.55395	Enoyl-CoA hydratase/isomerase, conserved site (1);Crotonase, core (1);	0.000000	0.85682	D	0.000000	D	0.96056	0.8715	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96858	0.9630	10	0.87932	D	0	-47.8341	14.8019	0.69922	0.0:1.0:0.0:0.0	.	162;162	P42126-2;P42126	.;ECI1_HUMAN	N	162	ENSP00000301729:D162N	ENSP00000301729:D162N	D	-	1	0	ECI1	2233399	1.000000	0.71417	0.625000	0.29200	0.004000	0.04260	4.780000	0.62382	2.350000	0.79820	0.591000	0.81541	GAC	ECI1	-	pfam_Crotonase_core		0.642	ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECI1	HGNC	protein_coding	OTTHUMT00000250768.1	C			2293398	-1	no_errors	ENST00000301729	ensembl	human	known	70_37	missense	SNP	0.999	T
EEF1A2	1917	genome.wustl.edu	37	20	62126344	62126344	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:62126344C>T	ENST00000298049.7	-	3	505	c.435G>A	c.(433-435)gtG>gtA	p.V145V	EEF1A2_ENST00000217182.3_Silent_p.V145V			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	145	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGAGCTGCTTCACACCCAGCG	0.622																																																	0													102.0	89.0	93.0					20																	62126344		2203	4299	6502	SO:0001819	synonymous_variant	1917			AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.435G>A	20.37:g.62126344C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.V145	ENST00000298049.7	37	c.435	CCDS13522.1	20																																																																																			EEF1A2	-	pfam_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc		0.622	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A2	HGNC	protein_coding	OTTHUMT00000080495.1	C	NM_001958		62126344	-1	no_errors	ENST00000217182	ensembl	human	known	70_37	silent	SNP	1.000	T
EEF1DP3	196549	genome.wustl.edu	37	13	32526817	32526817	+	RNA	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:32526817C>G	ENST00000428783.1	+	0	517							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										GGGCCTGTGGCCGGCGCCTCC	0.542																																																	0													33.0	32.0	32.0					13																	32526817		692	1591	2283			196549					13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32526817C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AR3	RNA	SNP	-	NULL	ENST00000428783.1	37	NULL		13																																																																																			EEF1DP3	-	-		0.542	EEF1DP3-001	KNOWN	basic	processed_transcript	EEF1DP3	HGNC	pseudogene	OTTHUMT00000044400.2	C	NR_027062		32526817	+1	no_errors	ENST00000428783	ensembl	human	known	70_37	rna	SNP	0.766	G
EEF2	1938	genome.wustl.edu	37	19	3984204	3984204	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:3984204G>A	ENST00000309311.6	-	2	236	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	EEF2_ENST00000600720.1_5'UTR|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	50	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCGGCCCGGGCCGAGGCG	0.627																																					Colon(165;1804 1908 4071 6587 18799)												0													119.0	113.0	115.0					19																	3984204		2203	4300	6503	SO:0001583	missense	1938			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.148C>T	19.37:g.3984204G>A	ENSP00000307940:p.Arg50Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.R50W	ENST00000309311.6	37	c.148	CCDS12117.1	19	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261473	0.80358	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.76709	-1.04	5.34	4.29	0.51040	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.81645	0.4866	L	0.48642	1.525	0.80722	D	1	D	0.69078	0.997	P	0.60609	0.877	T	0.83111	-0.0123	10	0.87932	D	0	-43.7742	12.3725	0.55261	0.0:0.0:0.6934:0.3065	.	50	P13639	EF2_HUMAN	W	50	ENSP00000307940:R50W	ENSP00000307940:R50W	R	-	1	2	EEF2	3935204	1.000000	0.71417	0.544000	0.28141	0.429000	0.31625	3.769000	0.55303	1.229000	0.43630	0.655000	0.94253	CGG	EEF2	-	pfam_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom		0.627	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	G	NM_001961		3984204	-1	no_errors	ENST00000309311	ensembl	human	known	70_37	missense	SNP	1.000	A
EFNA5	1946	genome.wustl.edu	37	5	106716965	106716965	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:106716965C>T	ENST00000333274.6	-	5	959	c.678G>A	c.(676-678)ttG>ttA	p.L226L	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Silent_p.L199L	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	226					axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GCTATAATGTCAAAAGCATCG	0.522																																																	0													173.0	159.0	164.0					5																	106716965		2202	4300	6502	SO:0001819	synonymous_variant	1946			U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"""Ephrins"""	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.678G>A	5.37:g.106716965C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.L226	ENST00000333274.6	37	c.678	CCDS4097.1	5																																																																																			EFNA5	-	NULL		0.522	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNA5	HGNC	protein_coding	OTTHUMT00000250652.1	C	NM_001962		106716965	-1	no_errors	ENST00000333274	ensembl	human	known	70_37	silent	SNP	1.000	T
EFCAB9	285588	genome.wustl.edu	37	5	171630308	171630308	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:171630308G>C	ENST00000398186.4	+	4	554	c.553G>C	c.(553-555)Gag>Cag	p.E185Q		NM_001171183.1	NP_001164654.1	A8MZ26	EFCB9_HUMAN	EF-hand calcium binding domain 9	185							calcium ion binding (GO:0005509)			breast(2)	2						AGAAAAAGGAGAGAGAAAGAG	0.353																																																	0													45.0	38.0	40.0					5																	171630308		692	1582	2274	SO:0001583	missense	285588				CCDS54946.1	5q35.1	2013-01-10			ENSG00000214360	ENSG00000214360		"""EF-hand domain containing"""	34530	protein-coding gene	gene with protein product							Standard	NM_001171183		Approved		uc021yhr.1	A8MZ26	OTTHUMG00000163271	ENST00000398186.4:c.553G>C	5.37:g.171630308G>C	ENSP00000381247:p.Glu185Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfscan_EF_HAND_2	p.E185Q	ENST00000398186.4	37	c.553	CCDS54946.1	5	.	.	.	.	.	.	.	.	.	.	G	12.80	2.048024	0.36085	.	.	ENSG00000214360	ENST00000398186	.	.	.	5.03	-2.11	0.07187	.	3.225010	0.01587	U	0.021372	T	0.34221	0.0890	L	0.47716	1.5	0.09310	N	1	.	.	.	.	.	.	T	0.08289	-1.0729	7	0.12430	T	0.62	-3.9338	5.2437	0.15485	0.5209:0.1485:0.3306:0.0	.	.	.	.	Q	185	.	ENSP00000381247:E185Q	E	+	1	0	EFCAB9	171562913	0.015000	0.18098	0.000000	0.03702	0.007000	0.05969	0.301000	0.19174	-0.248000	0.09583	-0.373000	0.07131	GAG	EFCAB9	-	NULL		0.353	EFCAB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB9	HGNC	protein_coding	OTTHUMT00000372421.1	G	NM_001171183		171630308	+1	no_errors	ENST00000398186	ensembl	human	known	70_37	missense	SNP	0.000	C
EFR3B	22979	genome.wustl.edu	37	2	25315919	25315919	+	Silent	SNP	C	C	G	rs55917417		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:25315919C>G	ENST00000403714.3	+	3	315	c.132C>G	c.(130-132)ctC>ctG	p.L44L	EFR3B_ENST00000402191.1_Silent_p.L9L|EFR3B_ENST00000401432.3_Silent_p.L44L	NM_014971.1	NP_055786.1	Q9Y2G0	EFR3B_HUMAN	EFR3 homolog B (S. cerevisiae)	44										endometrium(1)	1						TCTATGCCCTCTCAGCTCCAG	0.507																																																	0													86.0	72.0	76.0					2																	25315919		692	1591	2283	SO:0001819	synonymous_variant	22979			AB023170	CCDS46231.1	2p24.1	2008-02-05	2007-11-14	2007-11-14	ENSG00000084710	ENSG00000084710			29155	protein-coding gene	gene with protein product			"""KIAA0953"""	KIAA0953		10231032	Standard	NM_014971		Approved	FLJ37871	uc010eyh.3	Q9Y2G0	OTTHUMG00000151988	ENST00000403714.3:c.132C>G	2.37:g.25315919C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7WPL8|Q86XU6	Silent	SNP	superfamily_ARM-type_fold	p.L44	ENST00000403714.3	37	c.132	CCDS46231.1	2																																																																																			EFR3B	-	superfamily_ARM-type_fold		0.507	EFR3B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFR3B	HGNC	protein_coding	OTTHUMT00000324808.1	C	NM_014971		25315919	+1	no_errors	ENST00000403714	ensembl	human	known	70_37	silent	SNP	0.998	G
EFTUD1	79631	genome.wustl.edu	37	15	82551473	82551473	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:82551473G>A	ENST00000268206.7	-	3	283	c.115C>T	c.(115-117)Ctt>Ttt	p.L39F	EFTUD1_ENST00000359445.3_Intron	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	39	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTAGATATAAGACAGTCAGCC	0.323																																																	0													138.0	132.0	134.0					15																	82551473		1821	4079	5900	SO:0001583	missense	79631			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.115C>T	15.37:g.82551473G>A	ENSP00000268206:p.Leu39Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.L39F	ENST00000268206.7	37	c.115	CCDS42071.1	15	.	.	.	.	.	.	.	.	.	.	G	17.99	3.524159	0.64747	.	.	ENSG00000140598	ENST00000268206	D	0.84800	-1.9	3.62	3.62	0.41486	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.40469	U	0.001093	D	0.93239	0.7846	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94822	0.7988	10	0.87932	D	0	-8.2708	15.0647	0.71983	0.0:0.0:1.0:0.0	.	39	Q7Z2Z2	ETUD1_HUMAN	F	39	ENSP00000268206:L39F	ENSP00000268206:L39F	L	-	1	0	EFTUD1	80338528	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.643000	0.54374	1.878000	0.54408	0.436000	0.28706	CTT	EFTUD1	-	pfam_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom		0.323	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD1	HGNC	protein_coding	OTTHUMT00000419252.1	G	NM_024580		82551473	-1	no_errors	ENST00000268206	ensembl	human	known	70_37	missense	SNP	1.000	A
EFTUD1P1	648809	genome.wustl.edu	37	15	84748921	84748921	+	RNA	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:84748921G>C	ENST00000558187.1	+	0	2									elongation factor Tu GTP binding domain containing 1 pseudogene 1																		CAAGGCAACAGAGGGATGCCC	0.657																																																	0																																												648809					15q25.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000259404	ENSG00000259404			31739	pseudogene	pseudogene	"""similar to hypothetical protein FLJ13119"""		"""family with sequence similarity 42, member B"""	FAM42B			Standard	NR_036652		Approved	HsT19321	uc021stg.1		OTTHUMG00000172493		15.37:g.84748921G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000558187.1	37	NULL		15																																																																																			EFTUD1P1	-	-		0.657	EFTUD1P1-001	KNOWN	basic	processed_transcript	EFTUD1P1	HGNC	pseudogene	OTTHUMT00000418794.1	G	NR_036652		84748921	+1	no_errors	ENST00000558187	ensembl	human	known	70_37	rna	SNP	0.173	C
EHMT1	79813	genome.wustl.edu	37	9	140729282	140729282	+	Silent	SNP	C	C	T	rs371136319		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:140729282C>T	ENST00000460843.1	+	27	3801	c.3774C>T	c.(3772-3774)tgC>tgT	p.C1258C		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1258					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCTGCCGCTGCGGCTCCCCCA	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		10529	0.001		0.0	False		,,,				2504	0.0																0								C		0,4406		0,0,2203	32.0	30.0	30.0		3774	-4.7	0.9	9		30	1,8593		0,1,4296	no	coding-synonymous	EHMT1	NM_024757.4		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		1258/1299	140729282	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3774C>T	9.37:g.140729282C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.C1258	ENST00000460843.1	37	c.3774	CCDS7050.2	9																																																																																			EHMT1	-	NULL		0.672	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	C	NM_024757		140729282	+1	no_errors	ENST00000460843	ensembl	human	known	70_37	silent	SNP	0.978	T
EIF2AK1	27102	genome.wustl.edu	37	7	6066550	6066550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:6066550G>A	ENST00000199389.6	-	14	1719	c.1573C>T	c.(1573-1575)Cag>Tag	p.Q525*	EIF2AK1_ENST00000536084.1_Nonsense_Mutation_p.Q401*	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	525	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CCAAACGGCTGAAAGAGCTCT	0.448																																																	0													103.0	101.0	101.0					7																	6066550		2203	4300	6503	SO:0001587	stop_gained	27102			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1573C>T	7.37:g.6066550G>A	ENSP00000199389:p.Gln525*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q525*	ENST00000199389.6	37	c.1573	CCDS5345.1	7	.	.	.	.	.	.	.	.	.	.	G	42	9.398194	0.99159	.	.	ENSG00000086232	ENST00000199389;ENST00000536084	.	.	.	5.72	5.72	0.89469	.	0.056465	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-23.9578	19.8946	0.96949	0.0:0.0:1.0:0.0	.	.	.	.	X	525;401	.	ENSP00000199389:Q525X	Q	-	1	0	EIF2AK1	6033076	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.476000	0.97823	2.711000	0.92665	0.655000	0.94253	CAG	EIF2AK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.448	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	HGNC	protein_coding	OTTHUMT00000207373.2	G	NM_014413		6066550	-1	no_errors	ENST00000199389	ensembl	human	known	70_37	nonsense	SNP	1.000	A
EIF3C	8663	genome.wustl.edu	37	16	28734509	28734509	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:28734509G>C	ENST00000331666.6	+	9	987	c.801G>C	c.(799-801)aaG>aaC	p.K267N	EIF3C_ENST00000566501.1_Missense_Mutation_p.K267N|EIF3C_ENST00000564243.1_Missense_Mutation_p.K257N|EIF3C_ENST00000566866.1_Missense_Mutation_p.K267N|EIF3C_ENST00000395587.1_Missense_Mutation_p.K267N|EIF3C_ENST00000565099.1_3'UTR					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						ATGAGGACAAGAAGGCAGCCG	0.557																																																	0													117.0	128.0	124.0					16																	28734509		2194	4281	6475	SO:0001583	missense	8663			U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"""eukaryotic translation initiation factor 3, subunit 8, 110kDa"""	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.801G>C	16.37:g.28734509G>C	ENSP00000332604:p.Lys267Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_eIF3c_N,pfam_PCI_dom,smart_PCI_dom	p.K267N	ENST00000331666.6	37	c.801	CCDS10638.1	16	.	.	.	.	.	.	.	.	.	.	.	10.80	1.453730	0.26161	.	.	ENSG00000184110	ENST00000395587;ENST00000331666;ENST00000537985	.	.	.	4.1	1.58	0.23477	Eukaryotic translation initiation factor 3 subunit 8, N-terminal (1);	0.407969	0.22784	N	0.055684	T	0.43853	0.1266	L	0.39898	1.24	0.36426	D	0.86462	P;B;P	0.36010	0.532;0.379;0.532	B;B;B	0.42827	0.399;0.061;0.399	T	0.44112	-0.9349	9	0.32370	T	0.25	.	6.8925	0.24236	0.3003:0.0:0.6997:0.0	.	257;53;267	B4E1D5;B3KNZ4;Q99613	.;.;EIF3C_HUMAN	N	267;267;252	.	ENSP00000332604:K267N	K	+	3	2	EIF3C	28642010	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	0.461000	0.21940	0.736000	0.32559	0.447000	0.29281	AAG	EIF3C	-	pfam_eIF3c_N		0.557	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3C	HGNC	protein_coding	OTTHUMT00000216908.3	G	NM_003752		28734509	+1	no_errors	ENST00000331666	ensembl	human	known	70_37	missense	SNP	1.000	C
EIF3I	8668	genome.wustl.edu	37	1	32694789	32694789	+	Missense_Mutation	SNP	G	G	T	rs545905686		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:32694789G>T	ENST00000373586.1	+	9	855	c.783G>T	c.(781-783)agG>agT	p.R261S	MTMR9LP_ENST00000441044.1_RNA	NM_003757.2	NP_003748.1			eukaryotic translation initiation factor 3, subunit I											breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CCTCCACCAGGATTGGCAAGT	0.453																																					Colon(102;1138 2140 2180 17876)												0													91.0	94.0	93.0					1																	32694789		2203	4300	6503	SO:0001583	missense	8668			U39067	CCDS357.1	1p34.1	2013-01-10	2007-07-27	2007-07-27	ENSG00000084623	ENSG00000084623		"""WD repeat domain containing"""	3272	protein-coding gene	gene with protein product		603911	"""eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa"""	EIF3S2		7566156, 8995409	Standard	NM_003757		Approved	TRIP-1, eIF3-beta, eIF3-p36, eIF3i	uc009vuc.3	Q13347	OTTHUMG00000007364	ENST00000373586.1:c.783G>T	1.37:g.32694789G>T	ENSP00000362688:p.Arg261Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R261S	ENST00000373586.1	37	c.783	CCDS357.1	1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907138	0.52333	.	.	ENSG00000084623	ENST00000373586	T	0.46819	0.86	4.38	3.45	0.39498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	M	0.70108	2.13	0.80722	D	1	B	0.26512	0.151	B	0.26202	0.067	T	0.48525	-0.9028	10	0.46703	T	0.11	-22.7415	8.6062	0.33775	0.1755:0.0:0.8245:0.0	.	261	Q13347	EIF3I_HUMAN	S	261	ENSP00000362688:R261S	ENSP00000362688:R261S	R	+	3	2	EIF3I	32467376	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.661000	0.54503	2.162000	0.67917	0.313000	0.20887	AGG	EIF3I	-	superfamily_WD40_repeat_dom		0.453	EIF3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3I	HGNC	protein_coding	OTTHUMT00000019282.2	G	NM_003757		32694789	+1	no_errors	ENST00000373586	ensembl	human	known	70_37	missense	SNP	1.000	T
EIF4A1	1973	genome.wustl.edu	37	17	7478464	7478464	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:7478464C>A	ENST00000293831.8	+	4	249	c.233C>A	c.(232-234)tCt>tAt	p.S78Y	EIF4A1_ENST00000582746.1_Missense_Mutation_p.S78Y|SENP3-EIF4A1_ENST00000579777.1_RNA|SNORA67_ENST00000384423.1_RNA|EIF4A1_ENST00000577269.1_Missense_Mutation_p.S78Y|EIF4A1_ENST00000380512.5_Missense_Mutation_p.S62Y|SNORA48_ENST00000386847.1_RNA|SNORD10_ENST00000459579.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	78	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CAAGCCCAATCTGGGACTGGG	0.433																																					Melanoma(120;278 1668 15796 27423 46368)												0													116.0	112.0	113.0					17																	7478464		2203	4300	6503	SO:0001583	missense	1973			D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.233C>A	17.37:g.7478464C>A	ENSP00000293831:p.Ser78Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.S78Y	ENST00000293831.8	37	c.233	CCDS11113.1	17	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964928	0.53507	.	.	ENSG00000161960	ENST00000293831;ENST00000380512	T;T	0.15487	2.42;2.42	5.53	5.53	0.82687	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.051826	0.85682	D	0.000000	T	0.54078	0.1836	M	0.93594	3.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	T	0.66097	-0.6008	10	0.87932	D	0	-17.497	16.9642	0.86281	0.0:1.0:0.0:0.0	.	78;78;78	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	Y	78;62	ENSP00000293831:S78Y;ENSP00000369881:S62Y	ENSP00000293831:S78Y	S	+	2	0	EIF4A1	7419188	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.628000	0.89032	0.561000	0.74099	TCT	EIF4A1	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.433	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A1	HGNC	protein_coding	OTTHUMT00000226952.6	C	NM_001416		7478464	+1	no_errors	ENST00000293831	ensembl	human	known	70_37	missense	SNP	1.000	A
EIF4E3	317649	genome.wustl.edu	37	3	71777666	71777666	+	5'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:71777666G>C	ENST00000448225.1	-	0	275				EIF4E3_ENST00000295612.3_5'UTR|EIF4E3_ENST00000421769.2_5'UTR|EIF4E3_ENST00000468147.1_5'UTR|EIF4E3_ENST00000389826.3_5'UTR	NM_001134649.1|NM_001282886.1	NP_001128121.1|NP_001269815.1	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E family member 3						cytokine-mediated signaling pathway (GO:0019221)|regulation of translation (GO:0006417)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			large_intestine(1)|lung(3)	4		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		ggcgggactagaacgtgggta	0.547																																																	0																																										SO:0001623	5_prime_UTR_variant	317649			AK126999	CCDS33786.1, CCDS46867.1	3p14	2008-02-05	2006-11-13		ENSG00000163412	ENSG00000163412			31837	protein-coding gene	gene with protein product		609896	"""eukaryotic translation initiation factor 4E member 3"""			15153109	Standard	NM_173359		Approved	MGC39820	uc003dov.4	Q8N5X7	OTTHUMG00000158797	ENST00000448225.1:c.-182C>G	3.37:g.71777666G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R963|Q6NUT1	RNA	SNP	-	NULL	ENST00000448225.1	37	NULL	CCDS33786.1	3																																																																																			EIF4E3	-	-		0.547	EIF4E3-202	KNOWN	basic|CCDS	protein_coding	EIF4E3	HGNC	protein_coding	OTTHUMT00000352243.2	G	NM_173359		71777666	-1	no_errors	ENST00000468147	ensembl	human	known	70_37	rna	SNP	0.411	C
EIF5B	9669	genome.wustl.edu	37	2	100013320	100013320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:100013320C>T	ENST00000289371.6	+	22	3554	c.3352C>T	c.(3352-3354)Cag>Tag	p.Q1118*		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1118					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAAGCAGGTCAGGTGAAACA	0.443																																					Colon(162;2388 2567 2705 3444)												0													99.0	101.0	101.0					2																	100013320		1898	4115	6013	SO:0001587	stop_gained	9669			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.3352C>T	2.37:g.100013320C>T	ENSP00000289371:p.Gln1118*	Somatic		WXS	Illumina HiSeq	Phase_IV	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Nonsense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.Q1118*	ENST00000289371.6	37	c.3352	CCDS42721.1	2	.	.	.	.	.	.	.	.	.	.	C	43	10.472253	0.99411	.	.	ENSG00000158417	ENST00000289371	.	.	.	5.91	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.4355	15.1485	0.72677	0.0:0.9325:0.0:0.0675	.	.	.	.	X	1118	.	.	Q	+	1	0	EIF5B	99379752	1.000000	0.71417	0.946000	0.38457	0.989000	0.77384	4.012000	0.57131	1.525000	0.49052	0.655000	0.94253	CAG	EIF5B	-	superfamily_Transl_elong_init/rib_B-barrel		0.443	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	C	NM_015904		100013320	+1	no_errors	ENST00000289371	ensembl	human	known	70_37	nonsense	SNP	0.994	T
ELAVL2	1993	genome.wustl.edu	37	9	23701541	23701541	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:23701541G>C	ENST00000397312.2	-	5	823	c.549C>G	c.(547-549)atC>atG	p.I183M	ELAVL2_ENST00000380117.1_Missense_Mutation_p.I183M|ELAVL2_ENST00000223951.6_Missense_Mutation_p.I183M|ELAVL2_ENST00000380110.4_Missense_Mutation_p.I212M|ELAVL2_ENST00000544538.1_Missense_Mutation_p.I183M	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	183	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TTAGGCCTTTGATAGCTTCTT	0.448																																																	0													216.0	220.0	219.0					9																	23701541		2203	4300	6503	SO:0001583	missense	1993			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.549C>G	9.37:g.23701541G>C	ENSP00000380479:p.Ile183Met	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.I211M	ENST00000397312.2	37	c.633	CCDS6515.1	9	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525819	0.85600	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281;ENST00000440102	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	5.92	5.92	0.95590	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.46054	0.1373	L	0.58669	1.825	0.80722	D	1	D;P	0.58268	0.982;0.456	D;B	0.68943	0.961;0.311	T	0.24048	-1.0171	10	0.87932	D	0	.	20.3241	0.98686	0.0:0.0:1.0:0.0	.	183;183	Q12926;Q12926-2	ELAV2_HUMAN;.	M	183;183;183;183;183;211;48;183	ENSP00000223951:I183M;ENSP00000380479:I183M;ENSP00000440998:I183M;ENSP00000369460:I183M;ENSP00000391757:I48M;ENSP00000412602:I183M	ENSP00000223951:I183M	I	-	3	3	ELAVL2	23691541	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.995000	0.49441	2.812000	0.96745	0.563000	0.77884	ATC	ELAVL2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF		0.448	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	ELAVL2	HGNC	protein_coding	OTTHUMT00000051943.2	G	NM_004432		23701541	-1	no_errors	ENST00000359598	ensembl	human	known	70_37	missense	SNP	1.000	C
ELAVL2	1993	genome.wustl.edu	37	9	23762104	23762104	+	Silent	SNP	G	G	A	rs141278970		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:23762104G>A	ENST00000397312.2	-	2	403	c.129C>T	c.(127-129)gtC>gtT	p.V43V	ELAVL2_ENST00000380117.1_Silent_p.V43V|ELAVL2_ENST00000223951.6_Silent_p.V43V|ELAVL2_ENST00000380110.4_Silent_p.V72V|ELAVL2_ENST00000544538.1_Silent_p.V43V|ELAVL2_ENST00000462649.1_5'Flank	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	43	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GAAGGTAGTTGACTATTAAGT	0.428																																																	0								G	,,	0,4406		0,0,2203	311.0	281.0	291.0		129,129,129	5.0	1.0	9	dbSNP_134	291	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ELAVL2	NM_001171195.1,NM_001171197.1,NM_004432.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	43/347,43/347,43/360	23762104	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1993			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.129C>T	9.37:g.23762104G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.V71	ENST00000397312.2	37	c.213	CCDS6515.1	9																																																																																			ELAVL2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF		0.428	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	ELAVL2	HGNC	protein_coding	OTTHUMT00000051943.2	G	NM_004432		23762104	-1	no_errors	ENST00000359598	ensembl	human	known	70_37	silent	SNP	1.000	A
ELF3	1999	genome.wustl.edu	37	1	201983060	201983060	+	Silent	SNP	C	C	T	rs202089261		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:201983060C>T	ENST00000359651.3	+	7	4101	c.909C>T	c.(907-909)ttC>ttT	p.F303F	ELF3_ENST00000367283.3_Silent_p.F303F|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Silent_p.F303F					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AAGGCGTCTTCAAGTTCCTGC	0.582																																																	0								C	,	0,4406		0,0,2203	95.0	77.0	83.0		909,909	4.2	1.0	1		83	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	ELF3	NM_001114309.1,NM_004433.4	,	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	,	303/372,303/372	201983060	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.909C>T	1.37:g.201983060C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets	p.F303	ENST00000359651.3	37	c.909	CCDS1419.1	1																																																																																			ELF3	-	pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets		0.582	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	C	NM_004433		201983060	+1	no_errors	ENST00000359651	ensembl	human	known	70_37	silent	SNP	1.000	T
ELMSAN1	91748	genome.wustl.edu	37	14	74196685	74196685	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:74196685C>G	ENST00000286523.5	-	4	2535	c.1753G>C	c.(1753-1755)Gag>Cag	p.E585Q	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.E585Q	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	585					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E585Q(1)									TTCATGTCCTCTGCCTGGAGA	0.567																																																	1	Substitution - Missense(1)	urinary_tract(1)											31.0	30.0	30.0					14																	74196685		2202	4299	6501	SO:0001583	missense	91748			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1753G>C	14.37:g.74196685C>G	ENSP00000286523:p.Glu585Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.E585Q	ENST00000286523.5	37	c.1753	CCDS9819.1	14	.	.	.	.	.	.	.	.	.	.	C	9.097	1.003070	0.19121	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.15487	2.43;2.43;2.43;2.42	5.25	5.25	0.73442	.	0.263074	0.32301	N	0.006297	T	0.10121	0.0248	L	0.27053	0.805	0.20196	N	0.999922	P;B	0.35272	0.493;0.18	B;B	0.26202	0.067;0.064	T	0.27434	-1.0074	10	0.19147	T	0.46	-15.8418	11.47	0.50264	0.1796:0.8204:0.0:0.0	.	585;585	A0PJD3;Q6PJG2	.;CN043_HUMAN	Q	585	ENSP00000377634:E585Q;ENSP00000286523:E585Q;ENSP00000407767:E585Q;ENSP00000402380:E585Q	ENSP00000286523:E585Q	E	-	1	0	C14orf43	73266438	0.995000	0.38212	0.932000	0.37286	0.026000	0.11368	4.958000	0.63660	2.434000	0.82447	0.579000	0.79373	GAG	ELMSAN1	-	NULL		0.567	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMSAN1	HGNC	protein_coding	OTTHUMT00000317793.1	C	NM_194278		74196685	-1	no_errors	ENST00000286523	ensembl	human	known	70_37	missense	SNP	0.555	G
ELOVL1	64834	genome.wustl.edu	37	1	43829599	43829599	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:43829599G>A	ENST00000372458.3	-	8	945	c.828C>T	c.(826-828)gtC>gtT	p.V276V	ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Silent_p.V249V	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	276					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGTTGGCCTTGACCTTGGCAA	0.552																																																	0													86.0	82.0	84.0					1																	43829599		2203	4300	6503	SO:0001819	synonymous_variant	64834			AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"""				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.828C>T	1.37:g.43829599G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Silent	SNP	pfam_GNS1_SUR4	p.V276	ENST00000372458.3	37	c.828	CCDS485.1	1																																																																																			ELOVL1	-	NULL		0.552	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL1	HGNC	protein_coding	OTTHUMT00000019496.1	G	NM_022821		43829599	-1	no_errors	ENST00000372458	ensembl	human	known	70_37	silent	SNP	1.000	A
ELP2	55250	genome.wustl.edu	37	18	33740957	33740957	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:33740957C>T	ENST00000358232.6	+	17	1814	c.1751C>T	c.(1750-1752)tCa>tTa	p.S584L	ELP2_ENST00000423854.2_Missense_Mutation_p.S514L|ELP2_ENST00000442325.2_Missense_Mutation_p.S649L|ELP2_ENST00000351393.6_Missense_Mutation_p.S558L|ELP2_ENST00000542824.1_Missense_Mutation_p.S514L|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000350494.6_Missense_Mutation_p.S579L	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	584					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CTGCTTGCCTCAGCTTGTAAG	0.363																																																	0													148.0	143.0	144.0					18																	33740957		2203	4300	6503	SO:0001583	missense	55250			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1751C>T	18.37:g.33740957C>T	ENSP00000350967:p.Ser584Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S584L	ENST00000358232.6	37	c.1751	CCDS11918.1	18	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741631	0.89573	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.68624	-0.34;1.85;0.01;1.85;-0.19;-0.34	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81465	0.4828	M	0.88979	2.995	0.80722	D	1	P;P;P;P;D;P	0.54047	0.557;0.557;0.68;0.915;0.964;0.83	P;P;B;B;P;P	0.54210	0.496;0.496;0.41;0.397;0.745;0.532	D	0.84662	0.0707	10	0.72032	D	0.01	-12.4516	17.6284	0.88099	0.0:1.0:0.0:0.0	.	579;649;514;514;558;584	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	L	584;558;649;514;579;514	ENSP00000350967:S584L;ENSP00000257191:S558L;ENSP00000414851:S649L;ENSP00000391202:S514L;ENSP00000316051:S579L;ENSP00000443800:S514L	ENSP00000316051:S579L	S	+	2	0	ELP2	31994955	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.677000	0.61634	2.765000	0.95021	0.655000	0.94253	TCA	ELP2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.363	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	C	NM_018255		33740957	+1	no_errors	ENST00000358232	ensembl	human	known	70_37	missense	SNP	1.000	T
EMC4	51234	genome.wustl.edu	37	15	34521913	34521913	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:34521913C>G	ENST00000267750.4	+	5	632				EMC4_ENST00000559421.1_Intron|EMC4_ENST00000249209.4_Intron	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4						apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TTTTAACACTCATTTGCCACT	0.403																																																	0													101.0	100.0	100.0					15																	34521913		2201	4298	6499	SO:0001627	intron_variant	51234			BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"""transmembrane protein 85"""	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.517-41C>G	15.37:g.34521913C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	RNA	SNP	-	NULL	ENST00000267750.4	37	NULL	CCDS10035.1	15																																																																																			EMC4	-	-		0.403	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC4	HGNC	protein_coding	OTTHUMT00000251568.1	C	NM_016454		34521913	+1	no_errors	ENST00000561246	ensembl	human	known	70_37	rna	SNP	0.000	G
EMC4	51234	genome.wustl.edu	37	15	34521944	34521944	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:34521944C>G	ENST00000267750.4	+	5	632				EMC4_ENST00000559421.1_Intron|EMC4_ENST00000249209.4_Intron	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4						apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TTCTTTCTTTCTTCTTTCAGA	0.373																																																	0													126.0	123.0	124.0					15																	34521944		2201	4298	6499	SO:0001627	intron_variant	51234			BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"""transmembrane protein 85"""	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.517-10C>G	15.37:g.34521944C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	RNA	SNP	-	NULL	ENST00000267750.4	37	NULL	CCDS10035.1	15																																																																																			EMC4	-	-		0.373	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC4	HGNC	protein_coding	OTTHUMT00000251568.1	C	NM_016454		34521944	+1	no_errors	ENST00000561246	ensembl	human	known	70_37	rna	SNP	0.821	G
EMC4	51234	genome.wustl.edu	37	15	34522116	34522116	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:34522116C>T	ENST00000267750.4	+	0	795				EMC4_ENST00000559421.1_3'UTR|EMC4_ENST00000249209.4_3'UTR	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4						apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											AGACTCTTTTCTCCATGGTGG	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	51234			BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"""transmembrane protein 85"""	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.*127C>T	15.37:g.34522116C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	Silent	SNP	NULL	p.F83	ENST00000267750.4	37	c.249	CCDS10035.1	15																																																																																			EMC4	-	NULL		0.373	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC4	HGNC	protein_coding	OTTHUMT00000251568.1	C	NM_016454		34522116	+1	no_errors	ENST00000560000	ensembl	human	putative	70_37	silent	SNP	0.000	T
EML1	2009	genome.wustl.edu	37	14	100402637	100402637	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:100402637C>T	ENST00000262233.6	+	19	2200	c.2061C>T	c.(2059-2061)ctC>ctT	p.L687L	EML1_ENST00000327921.9_Silent_p.L675L|EML1_ENST00000334192.4_Silent_p.L706L	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	687	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CACAGTTCCTCGTGTCAAATT	0.493																																																	0													110.0	90.0	97.0					14																	100402637		2203	4300	6503	SO:0001819	synonymous_variant	2009			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2061C>T	14.37:g.100402637C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L706	ENST00000262233.6	37	c.2118	CCDS32155.1	14																																																																																			EML1	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.493	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EML1	HGNC	protein_coding	OTTHUMT00000413943.1	C	NM_001008707		100402637	+1	no_errors	ENST00000334192	ensembl	human	known	70_37	silent	SNP	0.931	T
EML1	2009	genome.wustl.edu	37	14	100402642	100402642	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:100402642C>G	ENST00000262233.6	+	19	2205	c.2066C>G	c.(2065-2067)tCa>tGa	p.S689*	EML1_ENST00000327921.9_Nonsense_Mutation_p.S677*|EML1_ENST00000334192.4_Nonsense_Mutation_p.S708*	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	689	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTCCTCGTGTCAAATTCCGGA	0.493																																																	0													105.0	86.0	93.0					14																	100402642		2203	4300	6503	SO:0001587	stop_gained	2009			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2066C>G	14.37:g.100402642C>G	ENSP00000262233:p.Ser689*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Nonsense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S708*	ENST00000262233.6	37	c.2123	CCDS32155.1	14	.	.	.	.	.	.	.	.	.	.	C	42	9.782770	0.99263	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.9979	17.709	0.88316	0.0:1.0:0.0:0.0	.	.	.	.	X	677;689;708;708	.	ENSP00000262233:S689X	S	+	2	0	EML1	99472395	1.000000	0.71417	0.944000	0.38274	0.978000	0.69477	7.624000	0.83124	2.429000	0.82318	0.561000	0.74099	TCA	EML1	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.493	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EML1	HGNC	protein_coding	OTTHUMT00000413943.1	C	NM_001008707		100402642	+1	no_errors	ENST00000334192	ensembl	human	known	70_37	nonsense	SNP	1.000	G
EMR3	84658	genome.wustl.edu	37	19	14779548	14779548	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:14779548G>C	ENST00000253673.5	-	2	177				EMR3_ENST00000595472.1_Missense_Mutation_p.L48V|EMR3_ENST00000599900.1_Intron|EMR3_ENST00000344373.4_Intron|EMR3_ENST00000443157.2_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GCCCACTGGAGACCATGAGTG	0.458																																																	0													65.0	60.0	61.0					19																	14779548		692	1591	2283	SO:0001627	intron_variant	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.76+65C>G	19.37:g.14779548G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.L48V	ENST00000253673.5	37	c.142	CCDS12315.1	19																																																																																			EMR3	-	NULL		0.458	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR3	HGNC	protein_coding	OTTHUMT00000466488.1	G	NM_032571		14779548	-1	no_errors	ENST00000595472	ensembl	human	putative	70_37	missense	SNP	0.000	C
EMR3	84658	genome.wustl.edu	37	19	14779642	14779642	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:14779642G>C	ENST00000253673.5	-	2	148	c.48C>G	c.(46-48)ctC>ctG	p.L16L	EMR3_ENST00000595472.1_Silent_p.L16L|EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Silent_p.L16L|EMR3_ENST00000443157.2_Silent_p.L16L	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	16					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CAGCTCCAAAGAGGCTCAGCA	0.502																																																	0													80.0	70.0	73.0					19																	14779642		2203	4300	6503	SO:0001819	synonymous_variant	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.48C>G	19.37:g.14779642G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97	p.L16	ENST00000253673.5	37	c.48	CCDS12315.1	19																																																																																			EMR3	-	NULL		0.502	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR3	HGNC	protein_coding	OTTHUMT00000466488.1	G	NM_032571		14779642	-1	no_errors	ENST00000253673	ensembl	human	known	70_37	silent	SNP	0.002	C
EML2	24139	genome.wustl.edu	37	19	46144973	46144973	+	5'Flank	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:46144973G>C	ENST00000245925.3	-	0	0				AC006132.1_ENST00000591087.1_3'UTR|EML2_ENST00000536630.1_Silent_p.L129L|MIR330_ENST00000362196.1_RNA|EML2_ENST00000587152.1_Silent_p.L183L|EML2_ENST00000589876.1_5'Flank|AC006132.1_ENST00000593161.1_5'UTR	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2						negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GCACCGAGGCGAGGCGCTCTG	0.647																																																	0																																										SO:0001631	upstream_gene_variant	24139			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834			19.37:g.46144973G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Silent	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L183	ENST00000245925.3	37	c.549	CCDS12670.1	19																																																																																			EML2	-	NULL		0.647	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	EML2	HGNC	protein_coding	OTTHUMT00000459608.1	G	NM_012155		46144973	-1	no_errors	ENST00000587152	ensembl	human	known	70_37	silent	SNP	0.612	C
ENKD1	84080	genome.wustl.edu	37	16	67700140	67700140	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:67700140C>T	ENST00000243878.4	-	2	435	c.114G>A	c.(112-114)ctG>ctA	p.L38L	C16orf86_ENST00000403458.4_5'Flank|ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000602644.1_Silent_p.L38L	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	38						cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											AGTCCAGCTTCAGCGCGTTTC	0.726																																																	0													19.0	24.0	22.0					16																	67700140		2185	4284	6469	SO:0001819	synonymous_variant	84080			BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 48"""	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.114G>A	16.37:g.67700140C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWD7	Silent	SNP	NULL	p.L38	ENST00000243878.4	37	c.114	CCDS10844.1	16																																																																																			ENKD1	-	NULL		0.726	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENKD1	HGNC	protein_coding	OTTHUMT00000268884.1	C	NM_032140		67700140	-1	no_errors	ENST00000243878	ensembl	human	known	70_37	silent	SNP	1.000	T
ENO3	2027	genome.wustl.edu	37	17	4859940	4859940	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:4859940C>T	ENST00000323997.6	+	10	1272	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	ENO3_ENST00000518175.1_Silent_p.F380F|ENO3_ENST00000519584.1_Silent_p.F337F	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	380					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						AGGACACATTCATTGCTGACC	0.562											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													112.0	110.0	111.0					17																	4859940		2203	4300	6503	SO:0001819	synonymous_variant	2027			X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.1140C>T	17.37:g.4859940C>T		Somatic	622	WXS	Illumina HiSeq	Phase_IV	B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Silent	SNP	pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.F380	ENST00000323997.6	37	c.1140	CCDS11062.1	17																																																																																			ENO3	-	pfam_Enolase_C,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase		0.562	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO3	HGNC	protein_coding	OTTHUMT00000216851.2	C			4859940	+1	no_errors	ENST00000323997	ensembl	human	known	70_37	silent	SNP	1.000	T
ENPP2	5168	genome.wustl.edu	37	8	120596225	120596225	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:120596225C>G	ENST00000075322.6	-	16	1490	c.1432G>C	c.(1432-1434)Gat>Cat	p.D478H	ENPP2_ENST00000522826.1_Missense_Mutation_p.D478H|ENPP2_ENST00000427067.2_Missense_Mutation_p.D474H|ENPP2_ENST00000522167.1_Missense_Mutation_p.D117H|ENPP2_ENST00000259486.6_Missense_Mutation_p.D530H	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	478					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACCTTGTTATCAAATCCGTGG	0.363																																					Melanoma(20;305 879 2501 4818 31020)												0													234.0	230.0	231.0					8																	120596225		2203	4300	6503	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1432G>C	8.37:g.120596225C>G	ENSP00000075322:p.Asp478His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.D530H	ENST00000075322.6	37	c.1588	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985767	0.93044	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.74	5.74	0.90152	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.89822	0.6826	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91365	0.5115	10	0.87932	D	0	.	19.9248	0.97099	0.0:1.0:0.0:0.0	.	478;478;530;117	E9PHP7;Q13822;Q13822-2;E5RIA2	.;ENPP2_HUMAN;.;.	H	530;474;117;478;478	ENSP00000259486:D530H;ENSP00000403315:D474H;ENSP00000429476:D117H;ENSP00000428291:D478H;ENSP00000075322:D478H	ENSP00000075322:D478H	D	-	1	0	ENPP2	120665406	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.814000	0.86154	2.683000	0.91414	0.655000	0.94253	GAT	ENPP2	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.363	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	C			120596225	-1	no_errors	ENST00000259486	ensembl	human	known	70_37	missense	SNP	1.000	G
ENPP2	5168	genome.wustl.edu	37	8	120628552	120628552	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:120628552G>A	ENST00000075322.6	-	8	788	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	ENPP2_ENST00000522826.1_Silent_p.L244L|ENPP2_ENST00000427067.2_Silent_p.L240L|ENPP2_ENST00000259486.6_Silent_p.L244L	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	244	Substrate binding. {ECO:0000250}.				cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CGCCCTCGCAGATGAAAAGTG	0.368																																					Melanoma(20;305 879 2501 4818 31020)												0													124.0	111.0	115.0					8																	120628552		2203	4300	6503	SO:0001819	synonymous_variant	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.730C>T	8.37:g.120628552G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.L244	ENST00000075322.6	37	c.730	CCDS34936.1	8																																																																																			ENPP2	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.368	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	G			120628552	-1	no_errors	ENST00000259486	ensembl	human	known	70_37	silent	SNP	1.000	A
ENPP4	22875	genome.wustl.edu	37	6	46111060	46111060	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:46111060C>G	ENST00000321037.4	+	4	1275	c.1045C>G	c.(1045-1047)Cta>Gta	p.L349V		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	349					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GCATCCATTTCTAGCTGCCCA	0.383																																																	0													151.0	142.0	145.0					6																	46111060		2203	4299	6502	SO:0001583	missense	22875			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.1045C>G	6.37:g.46111060C>G	ENSP00000318066:p.Leu349Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5G1|Q7L2N1	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.L349V	ENST00000321037.4	37	c.1045	CCDS34468.1	6	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590997	0.66219	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.79749	-1.3	5.9	5.0	0.66597	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.121890	0.64402	D	0.000019	T	0.81517	0.4839	M	0.76574	2.34	0.51767	D	0.999939	D	0.59767	0.986	P	0.53450	0.726	D	0.84681	0.0717	10	0.87932	D	0	-12.7652	13.0024	0.58683	0.0:0.919:0.0:0.081	.	349	Q9Y6X5	ENPP4_HUMAN	V	349	ENSP00000318066:L349V	ENSP00000318066:L349V	L	+	1	2	ENPP4	46219019	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	1.169000	0.31871	1.407000	0.46875	0.650000	0.86243	CTA	ENPP4	-	superfamily_Alkaline_phosphatase_core		0.383	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP4	HGNC	protein_coding	OTTHUMT00000040777.2	C			46111060	+1	no_errors	ENST00000321037	ensembl	human	known	70_37	missense	SNP	1.000	G
ENPP7	339221	genome.wustl.edu	37	17	77708977	77708977	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:77708977G>A	ENST00000328313.5	+	3	756	c.535G>A	c.(535-537)Gtg>Atg	p.V179M		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CATCGACACAGTGATGGCGTG	0.602																																																	0													90.0	69.0	76.0					17																	77708977		2203	4300	6503	SO:0001583	missense	339221			AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.535G>A	17.37:g.77708977G>A	ENSP00000332656:p.Val179Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core	p.V179M	ENST00000328313.5	37	c.535	CCDS11763.1	17	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066712	0.55539	.	.	ENSG00000182156	ENST00000328313	T	0.74002	-0.8	4.84	4.84	0.62591	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.068386	0.56097	D	0.000021	D	0.86502	0.5948	M	0.79614	2.46	0.58432	D	0.999991	D	0.89917	1.0	D	0.81914	0.995	D	0.88632	0.3170	10	0.87932	D	0	-47.4141	17.9514	0.89055	0.0:0.0:1.0:0.0	.	179	Q6UWV6	ENPP7_HUMAN	M	179	ENSP00000332656:V179M	ENSP00000332656:V179M	V	+	1	0	ENPP7	75323572	1.000000	0.71417	0.988000	0.46212	0.047000	0.14425	6.637000	0.74304	2.237000	0.73441	0.591000	0.81541	GTG	ENPP7	-	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core		0.602	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ENPP7	HGNC	protein_coding	OTTHUMT00000437038.1	G	NM_178543		77708977	+1	no_errors	ENST00000328313	ensembl	human	known	70_37	missense	SNP	1.000	A
LOC113230	113230	genome.wustl.edu	37	19	14184042	14184042	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:14184042C>G	ENST00000269720.2	+	2	347	c.347C>G	c.(346-348)tCc>tGc	p.S116C	hsa-mir-1199_ENST00000587086.1_5'UTR|hsa-mir-1199_ENST00000591982.1_3'UTR																							ACCTCCTCCTCCAGGTCAGGC	0.701																																																	0																																										SO:0001583	missense	0																														ENST00000269720.2:c.347C>G	19.37:g.14184042C>G	ENSP00000269720:p.Ser116Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S116C	ENST00000269720.2	37	c.347		19	.	.	.	.	.	.	.	.	.	.	c	12.43	1.935904	0.34189	.	.	ENSG00000141854	ENST00000269720	T	0.53857	0.6	2.83	0.449	0.16619	.	2.846230	0.02607	U	0.101677	T	0.46483	0.1395	.	.	.	.	.	.	.	.	.	.	.	.	T	0.39078	-0.9631	6	0.54805	T	0.06	.	4.7573	0.13090	0.0:0.6485:0.0:0.3515	.	.	.	.	C	116	ENSP00000269720:S116C	ENSP00000269720:S116C	S	+	2	0	AC022098.1	14045042	0.000000	0.05858	0.005000	0.12908	0.152000	0.21847	0.284000	0.18864	0.184000	0.20083	0.450000	0.29827	TCC	CTB-55O6.8	-	NULL		0.701	hsa-mir-1199.1-201	KNOWN	basic	protein_coding	ENSG00000141854	Clone_based_vega_gene	protein_coding		C			14184042	+1	no_errors	ENST00000269720	ensembl	human	known	70_37	missense	SNP	0.011	G
Unknown	0	genome.wustl.edu	37	10	124488978	124488978	+	IGR	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:124488978G>T								C10orf120 (29640 upstream) : RP11-318C4.2 (27231 downstream)																							GAAGGTTCTGGAAGGTGTTCA	0.557																																																	0																																										SO:0001628	intergenic_variant	0																															10.37:g.124488978G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		10																																																																																			RP11-107C16.2	-	-	0	0.557					ENSG00000176584	Clone_based_vega_gene			G			124488978	+1	no_errors	ENST00000435147	ensembl	human	known	70_37	rna	SNP	0.410	T
SLC9A3	6550	genome.wustl.edu	37	5	472834	472834	+	IGR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:472834C>T	ENST00000264938.3	-	0	2584				CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.5_ENST00000342584.3_Missense_Mutation_p.E73K|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.5_ENST00000510714.1_5'UTR|CTD-2228K2.5_ENST00000510604.1_Missense_Mutation_p.E73K	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3						ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AAACGGCGCTCGGCCCAGGCC	0.662																																																	0																																										SO:0001628	intergenic_variant	0				CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315		5.37:g.472834C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	NULL	p.E73K	ENST00000264938.3	37	c.217	CCDS3855.1	5	.	.	.	.	.	.	.	.	.	.	c	12.60	1.986631	0.35036	.	.	ENSG00000188242	ENST00000342584;ENST00000510604	.	.	.	1.84	0.613	0.17597	.	.	.	.	.	T	0.47544	0.1451	.	.	.	.	.	.	.	.	.	.	.	.	T	0.58707	-0.7589	4	0.87932	D	0	.	6.5757	0.22564	0.0:0.4699:0.5301:0.0	.	.	.	.	K	73	.	ENSP00000345223:E73K	E	-	1	0	CTD-2228K2.5	525834	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.125000	0.10579	0.956000	0.37904	0.394000	0.25966	GAG	CTD-2228K2.5	-	NULL		0.662	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000188242	Clone_based_vega_gene	protein_coding	OTTHUMT00000206677.2	C	NM_004174		472834	-1	no_errors	ENST00000342584	ensembl	human	putative	70_37	missense	SNP	0.001	T
RP11-43F13.1	0	genome.wustl.edu	37	5	1632866	1632866	+	RNA	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:1632866C>T	ENST00000507841.1	-	0	260																											ATTCCTTTGTCCTTGGAAAAA	0.488																																																	0																																												0																															5.37:g.1632866C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000507841.1	37	NULL		5																																																																																			RP11-43F13.1	-	-		0.488	RP11-43F13.1-003	KNOWN	basic	processed_transcript	ENSG00000188002	Clone_based_vega_gene	pseudogene	OTTHUMT00000365919.1	C			1632866	-1	no_errors	ENST00000343123	ensembl	human	known	70_37	rna	SNP	0.029	T
ZNF788	388507	genome.wustl.edu	37	19	12223501	12223501	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:12223501G>C	ENST00000339302.4	+	3	1776	c.1139G>C	c.(1138-1140)tGt>tCt	p.C380S	ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000430298.2_3'UTR|ZNF788_ENST00000397759.3_5'Flank			Q6ZQV5	ZN788_HUMAN	zinc finger family member 788	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						TTTCAAACATGTGAAAGATCT	0.378																																					Melanoma(116;440 1644 18510 25456 49479)												0																																										SO:0001583	missense	0			AI566055		19p13.2	2013-01-08	2006-08-16		ENSG00000214189	ENSG00000214189		"""Zinc fingers, C2H2-type"""	33112	protein-coding gene	gene with protein product							Standard	NR_027049		Approved	FLJ46419	uc002mtd.3	Q6ZQV5	OTTHUMG00000156416	ENST00000339302.4:c.1139G>C	19.37:g.12223501G>C	ENSP00000342021:p.Cys380Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZRE4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C380S	ENST00000339302.4	37	c.1139		19	.	.	.	.	.	.	.	.	.	.	G	2.674	-0.276860	0.05679	.	.	ENSG00000188474	ENST00000339302	T	0.14391	2.51	0.768	-1.54	0.08584	.	.	.	.	.	T	0.10252	0.0251	.	.	.	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.14615	-1.0466	7	0.87932	D	0	.	7.0379	0.25002	0.8276:0.0:0.1724:0.0	.	380	Q6ZQV5	ZN788_HUMAN	S	380	ENSP00000342021:C380S	ENSP00000342021:C380S	C	+	2	0	AC022415.1	12084501	0.000000	0.05858	0.023000	0.16930	0.014000	0.08584	0.765000	0.26546	-0.997000	0.03450	-1.780000	0.00649	TGT	ZNF788	-	NULL		0.378	ZNF788-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000188474	Uniprot_genename	protein_coding		G	XM_930581		12223501	+1	no_errors	ENST00000339302	ensembl	human	known	70_37	missense	SNP	0.287	C
POM121L7	728418	genome.wustl.edu	37	22	21477296	21477296	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:21477296C>T	ENST00000419447.1	-	2	1516				BCRP2_ENST00000461808.1_RNA|KB-1592A4.15_ENST00000420508.1_lincRNA					POM121 transmembrane nucleoporin-like 7																		ATGCCCACATCAGCCGTCAGC	0.602																																																	0																																										SO:0001627	intron_variant	0					22q11.21	2013-03-28	2012-03-13		ENSG00000239511	ENSG00000239511			35444	other	unknown			"""POM121 membrane glycoprotein-like 7"""				Standard	NG_009026		Approved		uc010gsw.2		OTTHUMG00000150783	ENST00000419447.1:c.1387-74G>A	22.37:g.21477296C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000419447.1	37	NULL		22																																																																																			KB-1592A4.15	-	-		0.602	POM121L7-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000197210	Clone_based_vega_gene	protein_coding		C	NG_009026		21477296	-1	no_errors	ENST00000420508	ensembl	human	known	70_37	rna	SNP	0.010	T
ABL2	27	genome.wustl.edu	37	1	179170738	179170738	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:179170738C>G	ENST00000502732.1	-	1	361				ABL2_ENST00000367623.4_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000392043.3_Intron|ABL2_ENST00000511413.1_Intron|SNORA67_ENST00000364749.1_RNA	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase						actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GTTATTTCCTCTGCCTTCCTT	0.512			T	ETV6	AML																																			Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	0																																										SO:0001627	intron_variant	0			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.157+27637G>C	1.37:g.179170738C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	RNA	SNP	-	NULL	ENST00000502732.1	37	NULL	CCDS30947.1	1																																																																																			SNORA67	-	-		0.512	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000201619	RFAM	protein_coding	OTTHUMT00000085174.3	C	NM_005158		179170738	+1	no_errors	ENST00000364749	ensembl	human	novel	70_37	rna	SNP	0.040	G
RNGTT	8732	genome.wustl.edu	37	6	89675584	89675584	+	5'Flank	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:89675584G>C	ENST00000369485.4	-	0	0				RNGTT_ENST00000538899.1_5'Flank|RNGTT_ENST00000369475.3_5'Flank|RNGTT_ENST00000265607.6_5'Flank|AL079342.1_ENST00000369474.1_Missense_Mutation_p.D75H	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase						7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		atctccttttgacctgagcac	0.567																																																	0																																										SO:0001631	upstream_gene_variant	0			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190		6.37:g.89675584G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	NULL	p.D75H	ENST00000369485.4	37	c.223	CCDS5017.1	6	.	.	.	.	.	.	.	.	.	.	G	0.426	-0.905732	0.02453	.	.	ENSG00000203863	ENST00000369474	.	.	.	0.158	0.158	0.14942	.	.	.	.	.	T	0.37972	0.1023	.	.	.	0.23620	N	0.9972799999999999	.	.	.	.	.	.	T	0.32929	-0.9888	3	0.87932	D	0	.	.	.	.	.	.	.	.	H	75	.	ENSP00000358486:D75H	D	+	1	0	AL079342.1	89732303	0.005000	0.15991	0.010000	0.14722	0.010000	0.07245	0.251000	0.18257	0.202000	0.20498	0.205000	0.17691	GAC	AL079342.1	-	NULL		0.567	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000203863	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000041469.1	G			89675584	+1	no_errors	ENST00000369474	ensembl	human	known	70_37	missense	SNP	0.012	C
POLR2J2	246721	genome.wustl.edu	37	7	102313438	102313438	+	5'Flank	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:102313438G>C	ENST00000476151.1	-	0	0				POLR2J2_ENST00000358438.5_5'Flank|POLR2J2_ENST00000591000.1_5'Flank|POLR2J2_ENST00000333432.6_5'Flank			Q9GZM3	RPB1B_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J2						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			skin(1)	1						gggaaagggagtctccctttc	0.577																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS43627.1	7q22.1	2014-08-12			ENSG00000228049	ENSG00000267645		"""RNA polymerase subunits"""	23208	protein-coding gene	gene with protein product		609881				15586814	Standard	NM_032959		Approved	RPB11b1	uc010lij.2	Q9GZM3	OTTHUMG00000150388		7.37:g.102313438G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	F6W009|Q9H1A8	Missense_Mutation	SNP	NULL	p.T124S	ENST00000476151.1	37	c.371	CCDS43627.1	7	.	.	.	.	.	.	.	.	.	.	g	5.040	0.193124	0.09599	.	.	ENSG00000205233	ENST00000542270	.	.	.	.	.	.	.	.	.	.	.	T	0.66458	0.2791	.	.	.	.	.	.	.	.	.	.	.	.	T	0.77807	-0.2450	1	0.87932	D	0	.	.	.	.	.	.	.	.	S	124	.	ENSP00000445063:T124S	T	-	2	0	AC105052.1	102100674	0.244000	0.23889	.	.	.	.	0.122000	0.15687	.	.	.	.	ACT	AC105052.1	-	NULL		0.577	POLR2J2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	ENSG00000205233	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000453068.1	G			102313438	-1	no_errors	ENST00000542270	ensembl	human	known	70_37	missense	SNP	0.000	C
AC018804.7	0	genome.wustl.edu	37	2	130989289	130989289	+	RNA	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:130989289G>C	ENST00000450578.1	+	0	362																											GGAGGCAGTAGACAGGGGACA	0.597																																																	0																																												0																															2.37:g.130989289G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000450578.1	37	NULL		2																																																																																			AC018804.7	-	-		0.597	AC018804.7-002	KNOWN	basic	processed_transcript	ENSG00000213225	Clone_based_vega_gene	pseudogene	OTTHUMT00000332326.2	G			130989289	+1	no_errors	ENST00000450578	ensembl	human	known	70_37	rna	SNP	0.796	C
LINC01378	103689918	genome.wustl.edu	37	4	118496714	118496714	+	lincRNA	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:118496714C>A	ENST00000422145.3	+	0	159				NT5C3AP1_ENST00000441170.1_RNA																							TTCTTCATATCTTTCTTTGAG	0.373																																																	0																																												0																															4.37:g.118496714C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000422145.3	37	NULL		4																																																																																			AC092661.2	-	-		0.373	AC092661.1-002	KNOWN	basic	lincRNA	ENSG00000213492	Clone_based_vega_gene	lincRNA	OTTHUMT00000291362.3	C			118496714	-1	no_errors	ENST00000441170	ensembl	human	known	70_37	rna	SNP	0.998	A
LOC100653061	100653061	genome.wustl.edu	37	5	34175616	34175616	+	RNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:34175616G>A	ENST00000514048.1	-	0	478																											AATCCATAATGAGGTCCAGTG	0.393																																																	0																																												0																															5.37:g.34175616G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000514048.1	37	NULL		5																																																																																			RP11-1023L17.1	-	-		0.393	RP11-1023L17.1-003	KNOWN	basic	processed_transcript	ENSG00000215158	Clone_based_vega_gene	pseudogene	OTTHUMT00000367775.1	G			34175616	-1	no_errors	ENST00000514048	ensembl	human	known	70_37	rna	SNP	0.123	A
ULK4P2	100288380	genome.wustl.edu	37	15	32716848	32716848	+	RNA	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:32716848G>C	ENST00000562108.1	-	0	338				U8_ENST00000384260.1_RNA|ULK4P1_ENST00000565949.1_RNA																							GATCCTACCTGAAAATGCTGG	0.299																																																	0																																												0																															15.37:g.32716848G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000562108.1	37	NULL		15	.	.	.	.	.	.	.	.	.	.	g	7.714	0.695815	0.15106	.	.	ENSG00000215304	ENST00000321578	.	.	.	1.52	1.52	0.23074	.	.	.	.	.	T	0.56396	0.1982	.	.	.	.	.	.	.	.	.	.	.	.	T	0.68096	-0.5499	4	0.87932	D	0	.	9.1433	0.36917	0.0:0.0:1.0:0.0	.	.	.	.	E	11	.	ENSP00000314827:Q11E	Q	-	1	0	FAM7A1	30504140	1.000000	0.71417	0.979000	0.43373	0.106000	0.19336	3.839000	0.55835	1.178000	0.42870	0.121000	0.15741	CAG	RP13-395E19.3	-	-		0.299	RP13-395E19.3-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000215304	Clone_based_vega_gene	processed_transcript	OTTHUMT00000429843.1	G			32716848	-1	no_errors	ENST00000321578	ensembl	human	known	70_37	rna	SNP	1.000	C
TDRD15	100129278	genome.wustl.edu	37	2	21363254	21363254	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:21363254C>G	ENST00000405799.1	+	4	3245	c.2915C>G	c.(2914-2916)tCt>tGt	p.S972C				B5MCY1	TDR15_HUMAN	tudor domain containing 15	972							hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)										GTATATATATCTCACATATAT	0.308																																																	0																																										SO:0001583	missense	0					2p24.1	2013-01-23	2013-01-23	2013-01-23	ENSG00000218819	ENSG00000218819		"""Tudor domain containing"""	45037	protein-coding gene	gene with protein product							Standard	XR_425376		Approved			B5MCY1	OTTHUMG00000151795	ENST00000405799.1:c.2915C>G	2.37:g.21363254C>G	ENSP00000384376:p.Ser972Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor	p.S972C	ENST00000405799.1	37	c.2915		2	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291523	0.40494	.	.	ENSG00000218819	ENST00000405799	T	0.11930	2.73	5.71	3.91	0.45181	.	.	.	.	.	T	0.18467	0.0443	.	.	.	.	.	.	.	.	.	.	.	.	T	0.17653	-1.0362	5	0.33141	T	0.24	-6.4708	10.5657	0.45171	0.0:0.6815:0.2509:0.0676	.	.	.	.	C	972	ENSP00000384376:S972C	ENSP00000384376:S972C	S	+	2	0	AC010872.2	21216759	0.997000	0.39634	0.996000	0.52242	0.635000	0.38103	3.680000	0.54641	0.769000	0.33313	0.563000	0.77884	TCT	AC010872.2	-	pfam_Tudor		0.308	TDRD15-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	ENSG00000218819	Clone_based_vega_gene	protein_coding	OTTHUMT00000323948.1	C			21363254	+1	no_errors	ENST00000405799	ensembl	human	novel	70_37	missense	SNP	0.989	G
TDRD15	100129278	genome.wustl.edu	37	2	21365422	21365422	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:21365422C>A	ENST00000405799.1	+	4	5413	c.5083C>A	c.(5083-5085)Cct>Act	p.P1695T				B5MCY1	TDR15_HUMAN	tudor domain containing 15	1695							hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)										GAATACAGTTCCTGTTGAAGA	0.299																																																	0																																										SO:0001583	missense	0					2p24.1	2013-01-23	2013-01-23	2013-01-23	ENSG00000218819	ENSG00000218819		"""Tudor domain containing"""	45037	protein-coding gene	gene with protein product							Standard	XR_425376		Approved			B5MCY1	OTTHUMG00000151795	ENST00000405799.1:c.5083C>A	2.37:g.21365422C>A	ENSP00000384376:p.Pro1695Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor	p.P1695T	ENST00000405799.1	37	c.5083		2	.	.	.	.	.	.	.	.	.	.	C	0.084	-1.179127	0.01633	.	.	ENSG00000218819	ENST00000405799	T	0.17213	2.29	5.14	1.99	0.26369	.	.	.	.	.	T	0.10766	0.0263	.	.	.	.	.	.	.	.	.	.	.	.	T	0.31081	-0.9956	5	0.09338	T	0.73	.	10.4093	0.44282	0.3171:0.5598:0.123:0.0	.	.	.	.	T	1695	ENSP00000384376:P1695T	ENSP00000384376:P1695T	P	+	1	0	AC010872.2	21218927	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.640000	0.24705	0.123000	0.18342	0.650000	0.86243	CCT	AC010872.2	-	NULL		0.299	TDRD15-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	ENSG00000218819	Clone_based_vega_gene	protein_coding	OTTHUMT00000323948.1	C			21365422	+1	no_errors	ENST00000405799	ensembl	human	novel	70_37	missense	SNP	0.000	A
ARHGEF25	115557	genome.wustl.edu	37	12	58007421	58007421	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:58007421G>A	ENST00000286494.4	+	5	945				AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Intron|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25							cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GGAACGGGCTGAACCAAGGAT	0.502																																																	0													113.0	114.0	114.0					12																	58007421		692	1591	2283	SO:0001627	intron_variant	0				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.486-56G>A	12.37:g.58007421G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	RNA	SNP	-	NULL	ENST00000286494.4	37	NULL	CCDS8947.1	12																																																																																			AC025165.8	-	-		0.502	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	ENSG00000224713	Clone_based_vega_gene	protein_coding	OTTHUMT00000326561.1	G	NM_133483		58007421	-1	no_errors	ENST00000356672	ensembl	human	known	70_37	rna	SNP	0.000	A
CCNL2	81669	genome.wustl.edu	37	1	1335601	1335601	+	5'Flank	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:1335601C>T	ENST00000400809.3	-	0	0				RP4-758J18.2_ENST00000576232.1_Silent_p.I66I|CCNL2_ENST00000408918.4_5'Flank|RP4-758J18.2_ENST00000444362.1_Silent_p.I66I|CCNL2_ENST00000408952.5_5'Flank|MRPL20_ENST00000493287.1_5'Flank|RP4-758J18.2_ENST00000448629.2_Nonsense_Mutation_p.R68*	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2						regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GTCCTGCGATCGACCACAGCT	0.597																																																	0																																										SO:0001631	upstream_gene_variant	0			AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917		1.37:g.1335601C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Nonsense_Mutation	SNP	NULL	p.R68*	ENST00000400809.3	37	c.202	CCDS30557.1	1																																																																																			RP4-758J18.2	-	NULL		0.597	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224870	Clone_based_vega_gene	protein_coding	OTTHUMT00000008146.2	C	NM_030937		1335601	+1	no_errors	ENST00000448629	ensembl	human	putative	70_37	nonsense	SNP	0.000	T
FNBP1	23048	genome.wustl.edu	37	9	132677340	132677340	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:132677340C>G	ENST00000446176.2	-	11	1372				FNBP1_ENST00000420781.1_Intron|FNBP1_ENST00000443566.2_Intron|FNBP1_ENST00000355681.3_Intron|FNBP1_ENST00000478129.1_Intron	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1						endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GTGAATAATTCTAAAAAGGCT	0.358			T	MLL	AML																																			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0																																										SO:0001627	intron_variant	0			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1185+904G>C	9.37:g.132677340C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	RNA	SNP	-	NULL	ENST00000446176.2	37	NULL	CCDS48040.1	9																																																																																			RP11-409K20.8	-	-		0.358	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000225425	Clone_based_vega_gene	protein_coding	OTTHUMT00000054630.2	C			132677340	+1	no_errors	ENST00000447586	ensembl	human	known	70_37	rna	SNP	0.000	G
ARHGAP33	115703	genome.wustl.edu	37	19	36281675	36281675	+	IGR	SNP	G	G	A	rs564657186	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:36281675G>A	ENST00000007510.4	+	0	4401				AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33						protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTGGTGAGCCGACGGCTGCTG	0.672													G|||	5	0.000998403	0.0008	0.0	5008	,	,		15978	0.0		0.0	False		,,,				2504	0.0041																0																																										SO:0001628	intergenic_variant	0			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559			19.37:g.36281675G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	RNA	SNP	-	NULL	ENST00000007510.4	37	NULL		19																																																																																			AC002398.5	-	-		0.672	ARHGAP33-201	KNOWN	basic	protein_coding	ENSG00000225872	Clone_based_vega_gene	protein_coding		G	NM_052948		36281675	-1	no_errors	ENST00000433059	ensembl	human	known	70_37	rna	SNP	0.000	A
ANKRD19P	138649	genome.wustl.edu	37	9	95647673	95647673	+	RNA	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:95647673C>G	ENST00000446878.1	+	0	952				ANKRD19P_ENST00000473204.1_RNA																							CTTGGCGGCTCAAATAGTCAA	0.537																																																	0																																												0																															9.37:g.95647673C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000446878.1	37	NULL		9																																																																																			RP11-526D8.7	-	-		0.537	RP11-526D8.7-006	PUTATIVE	basic	processed_transcript	ENSG00000226668	Clone_based_vega_gene	pseudogene	OTTHUMT00000316907.1	C			95647673	+1	no_errors	ENST00000446878	ensembl	human	putative	70_37	rna	SNP	0.011	G
ANKRD19P	138649	genome.wustl.edu	37	9	95647734	95647734	+	RNA	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:95647734C>T	ENST00000446878.1	+	0	1013				ANKRD19P_ENST00000473204.1_RNA																							GGTGCGTCTTCAATTCGTCAG	0.537																																																	0																																												0																															9.37:g.95647734C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000446878.1	37	NULL		9																																																																																			RP11-526D8.7	-	-		0.537	RP11-526D8.7-006	PUTATIVE	basic	processed_transcript	ENSG00000226668	Clone_based_vega_gene	pseudogene	OTTHUMT00000316907.1	C			95647734	+1	no_errors	ENST00000446878	ensembl	human	putative	70_37	rna	SNP	0.011	T
LOC100631378	100631378	genome.wustl.edu	37	19	38321686	38321686	+	lincRNA	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:38321686G>C	ENST00000443870.1	+	0	1496				AC016582.2_ENST00000592640.1_lincRNA																							CTGGGGAGCAGAACCACAGAC	0.473																																																	0																																												0																															19.37:g.38321686G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000443870.1	37	NULL		19																																																																																			CTD-2554C21.3	-	-		0.473	CTD-2554C21.3-001	KNOWN	basic	lincRNA	ENSG00000229481	Clone_based_vega_gene	lincRNA	OTTHUMT00000459795.1	G			38321686	+1	no_errors	ENST00000443870	ensembl	human	known	70_37	rna	SNP	0.854	C
KRT13	3860	genome.wustl.edu	37	17	39658603	39658603	+	Intron	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:39658603G>T	ENST00000246635.3	-	6	1291				KRT13_ENST00000587544.1_3'UTR|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_Intron|KRT13_ENST00000587118.1_5'Flank	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13						cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ACTATCCTAAGAAAGAGGCTG	0.587																																																	0													87.0	82.0	84.0					17																	39658603		2203	4300	6503	SO:0001627	intron_variant	0				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1244+22C>A	17.37:g.39658603G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53G54|Q6AZK5|Q8N240	RNA	SNP	-	NULL	ENST00000246635.3	37	NULL	CCDS11396.1	17																																																																																			AC019349.5	-	-		0.587	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000229732	Clone_based_vega_gene	protein_coding	OTTHUMT00000257297.1	G	NM_153490		39658603	+1	no_errors	ENST00000411759	ensembl	human	known	70_37	rna	SNP	0.000	T
ATP1A1	476	genome.wustl.edu	37	1	116916774	116916774	+	Intron	SNP	G	G	C	rs540080561	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:116916774G>C	ENST00000295598.5	+	1	264				ATP1A1_ENST00000537345.1_5'UTR|AL136376.1_ENST00000598661.1_Intron	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide						ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	CTCCCCCAAAGAAAAAACTGG	0.637																																																	0													39.0	41.0	41.0					1																	116916774		692	1591	2283	SO:0001627	intron_variant	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.12+629G>C	1.37:g.116916774G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	RNA	SNP	-	NULL	ENST00000295598.5	37	NULL	CCDS887.1	1																																																																																			RP4-655J12.3	-	-		0.637	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000229895	Clone_based_vega_gene	protein_coding	OTTHUMT00000033481.5	G	NM_001160233		116916774	-1	no_errors	ENST00000432281	ensembl	human	known	70_37	rna	SNP	0.007	C
AC027612.3	0	genome.wustl.edu	37	2	91894188	91894188	+	RNA	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:91894188C>G	ENST00000436174.1	-	0	222																											ACAACCATATCGAGCACAGAG	0.333																																																	0																																												0																															2.37:g.91894188C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000436174.1	37	NULL		2																																																																																			AC027612.3	-	-		0.333	AC027612.3-002	KNOWN	basic	processed_transcript	ENSG00000230572	Clone_based_vega_gene	pseudogene	OTTHUMT00000338339.1	C			91894188	-1	no_errors	ENST00000436174	ensembl	human	known	70_37	rna	SNP	1.000	G
BZW1	9689	genome.wustl.edu	37	2	201676637	201676637	+	5'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:201676637C>T	ENST00000409600.1	+	0	369				AC007163.6_ENST00000447972.3_RNA|BZW1_ENST00000409226.1_5'Flank|BZW1_ENST00000452790.2_5'Flank	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						GGCGTTAGTTCCGGTCGCAGA	0.647																																																	0																																										SO:0001623	5_prime_UTR_variant	0			D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.-87C>T	2.37:g.201676637C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	RNA	SNP	-	NULL	ENST00000409600.1	37	NULL	CCDS56156.1	2																																																																																			AC007163.6	-	-		0.647	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000230408	Clone_based_vega_gene	protein_coding	OTTHUMT00000335975.1	C	NM_014670		201676637	-1	no_errors	ENST00000447972	ensembl	human	known	70_37	rna	SNP	1.000	T
PGM5	5239	genome.wustl.edu	37	9	71012048	71012048	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:71012048C>G	ENST00000396396.1	+	6	1272				PGM5_ENST00000396392.1_Intron|RP11-88I18.2_ENST00000446984.2_RNA|PGM5_ENST00000604870.2_Intron|RP11-88I18.2_ENST00000609241.1_RNA|RP11-88I18.2_ENST00000590767.1_RNA|RP11-88I18.2_ENST00000592778.1_RNA	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5						carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CTTTGTCATTCTGAATGTGTC	0.358																																																	0																																										SO:0001627	intron_variant	0			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1043+4659C>G	9.37:g.71012048C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	RNA	SNP	-	NULL	ENST00000396396.1	37	NULL	CCDS6622.2	9																																																																																			RP11-88I18.2	-	-		0.358	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ENSG00000233178	Clone_based_vega_gene	protein_coding	OTTHUMT00000052548.2	C	NM_021965		71012048	-1	no_errors	ENST00000590767	ensembl	human	known	70_37	rna	SNP	1.000	G
RP11-166B2.1	0	genome.wustl.edu	37	16	12027502	12027502	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:12027502C>G	ENST00000399147.4	-	4	359	c.360G>C	c.(358-360)ctG>ctC	p.L120L	RP11-166B2.1_ENST00000532936.1_5'UTR																lung(2)	2						TGACGTCTTTCAGGCCAATTT	0.413																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000399147.4:c.360G>C	16.37:g.12027502C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_NPIP	p.L120	ENST00000399147.4	37	c.360		16																																																																																			RP11-166B2.1	-	pfam_NPIP		0.413	RP11-166B2.1-001	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000234719	Clone_based_vega_gene	protein_coding	OTTHUMT00000388781.3	C			12027502	-1	no_errors	ENST00000399147	ensembl	human	putative	70_37	silent	SNP	0.106	G
RP11-526A4.1	0	genome.wustl.edu	37	4	150354662	150354662	+	lincRNA	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:150354662C>G	ENST00000511993.1	-	0	1925																											AATAACATTTCAATTGCTTTG	0.338																																																	0																																												0																															4.37:g.150354662C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000511993.1	37	NULL		4																																																																																			RP11-526A4.1	-	-		0.338	RP11-526A4.1-001	KNOWN	basic	lincRNA	ENSG00000234828	Clone_based_vega_gene	lincRNA	OTTHUMT00000364766.1	C			150354662	-1	no_errors	ENST00000506683	ensembl	human	known	70_37	rna	SNP	1.000	G
MBNL1	4154	genome.wustl.edu	37	3	152175738	152175738	+	Intron	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:152175738G>T	ENST00000463374.1	+	8	1621				MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000492948.1_Intron|RP11-362A9.3_ENST00000463255.1_RNA	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1						alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AAAGGGAATGGatatatatat	0.328																																																	0																																										SO:0001627	intron_variant	0			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.1111-1322G>T	3.37:g.152175738G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	RNA	SNP	-	NULL	ENST00000463374.1	37	NULL	CCDS3165.1	3																																																																																			RP11-362A9.3	-	-		0.328	MBNL1-006	KNOWN	basic|CCDS	protein_coding	ENSG00000243305	Clone_based_vega_gene	protein_coding	OTTHUMT00000353604.1	G	NM_021038		152175738	-1	no_errors	ENST00000463255	ensembl	human	known	70_37	rna	SNP	1.000	T
ANTXRLP1	100996567	genome.wustl.edu	37	10	47634765	47634765	+	RNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:47634765G>A	ENST00000454837.1	-	0	271					NR_103827.1				anthrax toxin receptor-like pseudogene 1																		TGCTTTCACTGAAGATAAATC	0.443																																																	0																																												0					10q11.22	2014-05-06			ENSG00000243536	ENSG00000263482			45004	pseudogene	pseudogene							Standard	NR_103827		Approved				OTTHUMG00000188317		10.37:g.47634765G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000454837.1	37	NULL		10																																																																																			RP11-292F22.6	-	-		0.443	ANTXRLP1-001	KNOWN	basic	processed_transcript	ENSG00000243536	Clone_based_vega_gene	pseudogene	OTTHUMT00000047859.2	G			47634765	-1	no_errors	ENST00000454837	ensembl	human	known	70_37	rna	SNP	0.001	A
MTHFD2P1	100287639	genome.wustl.edu	37	3	95374458	95374458	+	RNA	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:95374458G>T	ENST00000494840.1	-	0	1403					NR_077228.1				methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1																		TGCTCTGGAAGAGGCAGCTGA	0.378																																																	0																																												0					3q11.2	2013-06-19			ENSG00000244681	ENSG00000244681			48859	pseudogene	pseudogene							Standard	NR_077228		Approved				OTTHUMG00000159027		3.37:g.95374458G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000494840.1	37	NULL		3																																																																																			RP11-219E24.1	-	-		0.378	MTHFD2P1-002	KNOWN	basic	processed_transcript	ENSG00000244681	Clone_based_vega_gene	pseudogene	OTTHUMT00000352943.1	G			95374458	-1	no_errors	ENST00000494840	ensembl	human	known	70_37	rna	SNP	0.999	T
C5orf45	51149	genome.wustl.edu	37	5	179287538	179287538	+	5'Flank	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:179287538C>G	ENST00000292586.6	-	0	0				C5orf45_ENST00000518235.1_5'Flank|C5orf45_ENST00000403396.2_5'Flank|C5orf45_ENST00000518219.1_5'Flank|TBC1D9B_ENST00000518085.1_5'Flank|C5orf45_ENST00000376931.2_5'Flank|CTC-241N9.1_ENST00000499601.2_Missense_Mutation_p.Q77E|C5orf45_ENST00000523084.1_5'Flank|C5orf45_ENST00000521333.1_5'Flank|C5orf45_ENST00000520698.1_5'Flank	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45											breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						agcctgcggtcagaaccacct	0.557																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490		5.37:g.179287538C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Missense_Mutation	SNP	NULL	p.Q77E	ENST00000292586.6	37	c.229	CCDS34319.1	5	.	.	.	.	.	.	.	.	.	.	C	2.533	-0.308132	0.05458	.	.	ENSG00000245317	ENST00000499601	.	.	.	1.72	0.834	0.18880	.	.	.	.	.	T	0.29588	0.0738	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.29305	-1.0016	7	0.87932	D	0	.	6.0619	0.19842	0.0:0.6741:0.3258:0.0	.	77	D6RGH1	.	E	77	.	ENSP00000426367:Q77E	Q	+	1	0	CTC-241N9.1	179220144	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.508000	0.22692	0.293000	0.22520	-0.361000	0.07541	CAG	CTC-241N9.1	-	NULL		0.557	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000245317	Clone_based_vega_gene	protein_coding	OTTHUMT00000373760.2	C	NM_016175		179287538	+1	no_errors	ENST00000499601	ensembl	human	putative	70_37	missense	SNP	0.002	G
CLDND1	56650	genome.wustl.edu	37	3	98241652	98241652	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:98241652G>A	ENST00000394180.2	-	1	218				RP11-227H4.5_ENST00000502999.1_RNA|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000508503.1_Intron|CLDND1_ENST00000394181.2_Intron|CLDND1_ENST00000513287.1_5'Flank|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000341181.6_Intron|CLDND1_ENST00000437922.1_Intron|CLDND1_ENST00000510545.1_Intron|CLDND1_ENST00000394185.2_Intron|CLDND1_ENST00000503004.1_5'Flank|CLDND1_ENST00000511081.1_Intron	NM_019895.2	NP_063948.1	Q9NY35	CLDN1_HUMAN	claudin domain containing 1							apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						ATGGAACCGCGACGCGACCCC	0.701																																																	0													31.0	42.0	39.0					3																	98241652		2043	4168	6211	SO:0001627	intron_variant	0			AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 4"""	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000394180.2:c.68+40C>T	3.37:g.98241652G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	RNA	SNP	-	NULL	ENST00000394180.2	37	NULL	CCDS2930.1	3																																																																																			RP11-227H4.5	-	-		0.701	CLDND1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000248839	Clone_based_vega_gene	protein_coding	OTTHUMT00000359069.2	G	NM_019895		98241652	+1	no_errors	ENST00000502999	ensembl	human	known	70_37	rna	SNP	0.001	A
PGAP2	27315	genome.wustl.edu	37	11	3838432	3838432	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:3838432C>G	ENST00000463452.2	+	2	248				PGAP2_ENST00000396986.2_Intron|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000493547.2_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000278243.4_Intron|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000396991.2_Intron|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000396993.4_Intron	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2						GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						TCCTTCTCCTCTGCACTGTCT	0.532																																																	0																																										SO:0001627	intron_variant	0			AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"""FGF receptor activating protein 1"", ""cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"""	615187	"""mental retardation, non-syndromic, autosomal recessive, 21"""	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.165+5778C>G	11.37:g.3838432C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	RNA	SNP	-	NULL	ENST00000463452.2	37	NULL	CCDS58112.1	11																																																																																			AC090587.2	-	-		0.532	PGAP2-049	KNOWN	basic|CCDS	protein_coding	ENSG00000250404	Clone_based_vega_gene	protein_coding	OTTHUMT00000383260.1	C			3838432	+1	no_errors	ENST00000507938	ensembl	human	known	70_37	rna	SNP	0.000	G
LINC00923	91948	genome.wustl.edu	37	15	98417423	98417423	+	Silent	SNP	G	G	C	rs267604398		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:98417423G>C	ENST00000503874.3	-	1	357	c.93C>G	c.(91-93)ctC>ctG	p.L31L	RP11-753A21.2_ENST00000562480.1_RNA|LINC00923_ENST00000558179.1_5'Flank					long intergenic non-protein coding RNA 923																		AGGACGCCATGAGAGTGCCTG	0.547																																																	0																																										SO:0001819	synonymous_variant	0			AK025311, BC105717		15q26.2	2013-05-24			ENSG00000251209	ENSG00000251209		"""Long non-coding RNAs"""	28088	non-coding RNA	RNA, long non-coding							Standard	NR_024172		Approved				OTTHUMG00000172044	ENST00000503874.3:c.93C>G	15.37:g.98417423G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L31	ENST00000503874.3	37	c.93		15																																																																																			RP11-82I10.1	-	NULL		0.547	LINC00923-001	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000251209	Clone_based_vega_gene	protein_coding	OTTHUMT00000416595.1	G	NR_024172		98417423	-1	no_errors	ENST00000503768	ensembl	human	known	70_37	silent	SNP	0.000	C
CCAR2	57805	genome.wustl.edu	37	8	22471894	22471894	+	Intron	SNP	C	C	G	rs200771551		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:22471894C>G	ENST00000308511.4	+	10	1176				CCAR2_ENST00000520861.1_Intron|CCAR2_ENST00000389279.3_Intron|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										AGTGTCTCCTCCTGCACAGGT	0.537																																																	0													109.0	97.0	101.0					8																	22471894		2203	4300	6503	SO:0001627	intron_variant	0			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.928-9C>G	8.37:g.22471894C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	RNA	SNP	-	NULL	ENST00000308511.4	37	NULL	CCDS34863.1	8																																																																																			RP11-582J16.5	-	-		0.537	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000253200	Clone_based_vega_gene	protein_coding	OTTHUMT00000375865.1	C	NM_021174		22471894	-1	no_errors	ENST00000521025	ensembl	human	known	70_37	rna	SNP	0.000	G
EGR3	1960	genome.wustl.edu	37	8	22547822	22547822	+	3'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:22547822G>A	ENST00000317216.2	-	0	1685				RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_3'UTR|EGR3_ENST00000524088.1_5'Flank	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3						cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		TGGCCGGCGTGAAAGGTTGGG	0.721																																																	0																																										SO:0001624	3_prime_UTR_variant	0			X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.*164C>T	8.37:g.22547822G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8U9|B4DHJ5|E7EW38|Q2M3W2	RNA	SNP	-	NULL	ENST00000317216.2	37	NULL	CCDS6033.1	8																																																																																			RP11-459E5.1	-	-		0.721	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000253125	Clone_based_vega_gene	protein_coding	OTTHUMT00000215098.1	G	NM_004430		22547822	+1	no_errors	ENST00000523627	ensembl	human	known	70_37	rna	SNP	1.000	A
ST5	6764	genome.wustl.edu	37	11	8714978	8714978	+	3'UTR	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:8714978C>A	ENST00000534127.1	-	0	4464				ST5_ENST00000530991.1_3'UTR|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526757.1_3'UTR|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000357665.1_3'UTR|ST5_ENST00000313726.6_3'UTR	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5						positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CGCATCGTGGCCACCACTGAC	0.577																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.*665G>T	11.37:g.8714978C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	RNA	SNP	-	NULL	ENST00000534127.1	37	NULL	CCDS7791.1	11																																																																																			RP11-152H18.3	-	-		0.577	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000254665	Clone_based_vega_gene	protein_coding	OTTHUMT00000386518.1	C	NM_005418		8714978	+1	no_errors	ENST00000529883	ensembl	human	known	70_37	rna	SNP	1.000	A
BBS1	582	genome.wustl.edu	37	11	66283047	66283047	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:66283047G>C	ENST00000318312.7	+	5	520	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	BBS1_ENST00000393994.2_Missense_Mutation_p.E157Q|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.E194Q|BBS1_ENST00000537537.1_Intron|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000455748.2_Intron	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	157					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GGAGATGCTGGAGAGCATCCG	0.582									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)												0													114.0	102.0	106.0					11																	66283047		2200	4295	6495	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.469G>C	11.37:g.66283047G>C	ENSP00000317469:p.Glu157Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.E194Q	ENST00000318312.7	37	c.580	CCDS8142.1	11	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641426	0.87859	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000525809;ENST00000393994;ENST00000524705	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.25	5.25	0.73442	.	.	.	.	.	D	0.94331	0.8178	M	0.69248	2.105	0.80722	D	1	D;D;D	0.89917	1.0;0.989;0.989	D;P;P	0.85130	0.997;0.827;0.827	D	0.93280	0.6659	9	0.34782	T	0.22	.	16.4108	0.83712	0.0:0.0:1.0:0.0	.	157;157;194	Q32MM9;Q8NFJ9;Q8NFJ9-2	.;BBS1_HUMAN;.	Q	194;157;66;157;64	ENSP00000398526:E194Q;ENSP00000317469:E157Q;ENSP00000431187:E66Q;ENSP00000377563:E157Q;ENSP00000436927:E64Q	ENSP00000317469:E157Q	E	+	1	0	BBS1;CTD-3074O7.11	66039623	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	8.115000	0.89572	2.452000	0.82932	0.558000	0.71614	GAG	BBS1	-	NULL		0.582	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256349	Uniprot_genename	protein_coding	OTTHUMT00000393235.2	G			66283047	+1	no_errors	ENST00000419755	ensembl	human	known	70_37	missense	SNP	1.000	C
NPIPB1P	729602	genome.wustl.edu	37	18	11639355	11639355	+	RNA	SNP	C	C	T	rs571502051		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:11639355C>T	ENST00000547442.1	-	0	181									nuclear pore complex interacting protein family, member B1, pseudogene																		CTCAGGTACTCGCATGGGCAT	0.587													c|||	1	0.000199681	0.0	0.0	5008	,	,		18010	0.0		0.0	False		,,,				2504	0.001																0																																												0					18p11.21	2013-06-11			ENSG00000257513	ENSG00000257513			37452	pseudogene	pseudogene							Standard	NG_023368		Approved				OTTHUMG00000170512		18.37:g.11639355C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000547442.1	37	NULL		18	.	.	.	.	.	.	.	.	.	.	C	7.131	0.579898	0.13686	.	.	ENSG00000257513	ENST00000547442	.	.	.	0.532	-1.06	0.10002	.	.	.	.	.	T	0.40886	0.1135	.	.	.	0.31024	N	0.717955	.	.	.	.	.	.	T	0.48293	-0.9048	3	0.42905	T	0.14	.	.	.	.	.	.	.	.	K	36	.	ENSP00000448589:E36K	E	-	1	0	RP11-677O4.1	11629355	0.364000	0.24997	0.454000	0.27019	0.304000	0.27724	-1.028000	0.03589	-0.375000	0.07955	0.064000	0.15345	GAG	RP11-677O4.1	-	-		0.587	NPIPB1P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	ENSG00000257513	Clone_based_vega_gene	pseudogene	OTTHUMT00000409451.1	C	NG_023368		11639355	-1	no_errors	ENST00000547442	ensembl	human	known	70_37	rna	SNP	0.560	T
MGAM2	93432	genome.wustl.edu	37	7	141833904	141833904	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:141833904G>C	ENST00000477922.3	+	7	753	c.699G>C	c.(697-699)atG>atC	p.M233I	RP11-1220K2.2_ENST00000550469.2_Missense_Mutation_p.M233I																endometrium(1)|lung(5)	6						GCCACAATATGACCTGGAAGA	0.577																																																	0																																										SO:0001583	missense	0																														ENST00000477922.3:c.699G>C	7.37:g.141833904G>C	ENSP00000420449:p.Met233Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glycoside_hydrolase_SF,superfamily_P_trefoil,smart_P_trefoil	p.M233I	ENST00000477922.3	37	c.699		7	.	.	.	.	.	.	.	.	.	.	.	11.88	1.771963	0.31320	.	.	ENSG00000257743	ENST00000550469;ENST00000477922	D	0.85088	-1.94	4.76	4.76	0.60689	Glycoside hydrolase-type carbohydrate-binding (1);	.	.	.	.	T	0.79347	0.4430	.	.	.	.	.	.	B	0.20459	0.045	B	0.17979	0.02	T	0.80544	-0.1335	7	0.49607	T	0.09	.	11.3513	0.49589	0.0:0.1834:0.8166:0.0	.	233	Q2M2H8	MGAL2_HUMAN	I	233	ENSP00000447431:M233I	ENSP00000380641:M233I	M	+	3	0	RP11-1220K2.2	141480373	0.209000	0.23505	0.819000	0.32651	0.989000	0.77384	0.487000	0.22356	2.630000	0.89119	0.561000	0.74099	ATG	RP11-1220K2.2	-	superfamily_Glyco_hydro-type_carb-bd		0.577	RP11-1220K2.2-003	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	ENSG00000257743	Clone_based_vega_gene	protein_coding	OTTHUMT00000351325.3	G			141833904	+1	no_errors	ENST00000550469	ensembl	human	novel	70_37	missense	SNP	0.650	C
MGAM2	93432	genome.wustl.edu	37	7	141889220	141889220	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:141889220C>T	ENST00000477922.3	+	37	4315	c.4261C>T	c.(4261-4263)Cag>Tag	p.Q1421*																	endometrium(1)|lung(5)	6						CATGGAGAGTCAGCAGATCCT	0.512																																																	0																																										SO:0001587	stop_gained	0																														ENST00000477922.3:c.4261C>T	7.37:g.141889220C>T	ENSP00000420449:p.Gln1421*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.Q348*	ENST00000477922.3	37	c.1042		7	.	.	.	.	.	.	.	.	.	.	C	42	9.295069	0.99128	.	.	ENSG00000257743	ENST00000477922;ENST00000550494	.	.	.	4.58	0.52	0.17040	.	1.003210	0.08039	N	0.994700	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	16.8049	0.85623	0.0:0.2999:0.7001:0.0	.	.	.	.	X	1389;348	.	ENSP00000367474:Q348X	Q	+	1	0	RP11-1220K2.2	141535689	0.010000	0.17322	0.653000	0.29593	0.623000	0.37688	0.139000	0.16036	-0.023000	0.13963	0.655000	0.94253	CAG	RP11-1220K2.2	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.512	RP11-1220K2.2-003	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	ENSG00000257743	Clone_based_vega_gene	protein_coding	OTTHUMT00000351325.3	C			141889220	+1	no_errors	ENST00000550494	ensembl	human	known	70_37	nonsense	SNP	0.364	T
AP1G2	8906	genome.wustl.edu	37	14	24030665	24030665	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:24030665G>A	ENST00000308724.5	-	18	2613				RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Intron|RP11-66N24.4_ENST00000555446.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AGAAGGGGCAGGGCTGGGTAT	0.612																																																	0													63.0	62.0	62.0					14																	24030665		2203	4300	6503	SO:0001627	intron_variant	0			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1858-25C>T	14.37:g.24030665G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DS51|O75504	RNA	SNP	-	NULL	ENST00000308724.5	37	NULL	CCDS9602.1	14																																																																																			RP11-66N24.3	-	-		0.612	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258727	Clone_based_vega_gene	protein_coding	OTTHUMT00000071812.4	G	NM_003917		24030665	+1	no_errors	ENST00000555968	ensembl	human	known	70_37	rna	SNP	0.034	A
ALDH1A3	220	genome.wustl.edu	37	15	101455008	101455008	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:101455008C>T	ENST00000329841.5	+	0	2101				RP11-66B24.4_ENST00000560461.1_RNA|ALDH1A3_ENST00000346623.6_3'UTR|RP11-66B24.4_ENST00000560351.1_RNA|RP11-66B24.4_ENST00000560068.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3						embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CCTCAAACATCGGACGGCGGA	0.488																																																	0													57.0	48.0	51.0					15																	101455008		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.*30C>T	15.37:g.101455008C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NT64	RNA	SNP	-	NULL	ENST00000329841.5	37	NULL	CCDS10389.1	15																																																																																			RP11-66B24.4	-	-		0.488	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000259583	Clone_based_vega_gene	protein_coding	OTTHUMT00000313620.2	C			101455008	-1	no_errors	ENST00000560068	ensembl	human	known	70_37	rna	SNP	0.001	T
RP11-44F14.1	0	genome.wustl.edu	37	16	53404088	53404088	+	RNA	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:53404088C>T	ENST00000565421.1	-	0	529																											GCTTCTTCTTCAGCAATTTCA	0.363																																																	0																																												0																															16.37:g.53404088C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000565421.1	37	NULL		16																																																																																			RP11-44F14.1	-	-		0.363	RP11-44F14.1-002	KNOWN	basic	retained_intron	ENSG00000260078	Clone_based_vega_gene	pseudogene	OTTHUMT00000422364.2	C			53404088	-1	no_errors	ENST00000565421	ensembl	human	known	70_37	rna	SNP	1.000	T
RP11-44F14.1	0	genome.wustl.edu	37	16	53404808	53404808	+	RNA	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:53404808C>T	ENST00000565421.1	-	0	233																											AAGTCAAGGTCAGAATCCTCA	0.418																																																	0																																												0																															16.37:g.53404808C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000565421.1	37	NULL		16																																																																																			RP11-44F14.1	-	-		0.418	RP11-44F14.1-002	KNOWN	basic	retained_intron	ENSG00000260078	Clone_based_vega_gene	pseudogene	OTTHUMT00000422364.2	C			53404808	-1	no_errors	ENST00000565421	ensembl	human	known	70_37	rna	SNP	1.000	T
ZNF98	148198	genome.wustl.edu	37	19	22707492	22707492	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:22707492C>T	ENST00000599879.1	-	1	147				CTC-457E21.1_ENST00000562262.1_RNA			A6NK75	ZNF98_HUMAN	zinc finger protein 98						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTTTCTCTTTCGCTCCTCTAG	0.502																																																	0																																										SO:0001627	intron_variant	0				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000599879.1:c.345+7648G>A	19.37:g.22707492C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000599879.1	37	NULL		19																																																																																			CTC-457E21.1	-	-		0.502	ZNF98-005	PUTATIVE	basic	processed_transcript	ENSG00000260599	Clone_based_vega_gene	protein_coding	OTTHUMT00000464565.1	C	NM_001098626		22707492	-1	no_errors	ENST00000562262	ensembl	human	known	70_37	rna	SNP	0.006	T
IFT140	9742	genome.wustl.edu	37	16	1660174	1660174	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:1660174C>T	ENST00000426508.2	-	2	333				CRAMP1L_ENST00000397412.3_5'Flank|IFT140_ENST00000439987.2_Intron|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140						cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TACAAAGCCTCGCCCTCCAGG	0.647																																																	0																																										SO:0001627	intron_variant	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.30+490G>A	16.37:g.1660174C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2A8|D3DU75|O60332|Q9UG52	RNA	SNP	-	NULL	ENST00000426508.2	37	NULL	CCDS10439.1	16																																																																																			LA16c-395F10.2	-	-		0.647	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000260989	Clone_based_vega_gene	protein_coding	OTTHUMT00000250438.2	C	NM_014714		1660174	+1	no_errors	ENST00000563162	ensembl	human	known	70_37	rna	SNP	0.001	T
RP11-1166P10.1	0	genome.wustl.edu	37	16	31997664	31997664	+	RNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:31997664G>A	ENST00000568570.1	+	0	516																											CACTTCAGATGACAGTGCTGC	0.547																																																	0																																												0																															16.37:g.31997664G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000568570.1	37	NULL		16																																																																																			RP11-1166P10.1	-	-		0.547	RP11-1166P10.1-002	KNOWN	basic	processed_transcript	ENSG00000260628	Clone_based_vega_gene	pseudogene	OTTHUMT00000432457.1	G			31997664	+1	no_errors	ENST00000568570	ensembl	human	known	70_37	rna	SNP	1.000	A
AKTIP	64400	genome.wustl.edu	37	16	53526558	53526558	+	Intron	SNP	G	G	A	rs374331945		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:53526558G>A	ENST00000394657.7	-	9	946				AKTIP_ENST00000300245.4_Intron|AKTIP_ENST00000570004.1_Intron	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein						apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				AGACATTTTAGAAAAGAAACA	0.348																																																	0													92.0	96.0	95.0					16																	53526558		2198	4300	6498	SO:0001627	intron_variant	0			AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"""Ubiquitin-conjugating enzymes E2"""	16710	protein-coding gene	gene with protein product		608483	"""fused toes (mouse) homolog"", ""fused toes homolog (mouse)"""	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.771+46C>T	16.37:g.53526558G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q503B1|Q53H38	RNA	SNP	-	NULL	ENST00000394657.7	37	NULL	CCDS10749.1	16																																																																																			RP11-44F14.11	-	-		0.348	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000262557	Clone_based_vega_gene	protein_coding	OTTHUMT00000256909.4	G	NM_022476		53526558	-1	no_errors	ENST00000571523	ensembl	human	known	70_37	rna	SNP	0.930	A
CCDC144A	9720	genome.wustl.edu	37	17	16692371	16692371	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:16692371G>C	ENST00000443444.2	+	22	5722				RP11-219A15.4_ENST00000602730.1_RNA|USP32P1_ENST00000393005.2_RNA|RP11-92B11.3_ENST00000578710.1_RNA|RP11-219A15.1_ENST00000448331.3_Intron			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A																		CTCACTTCATGAGGCAGTTCG	0.473																																																	0																																										SO:0001627	intron_variant	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000443444.2:c.4281+922G>C	17.37:g.16692371G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O60311|Q6ZU57	RNA	SNP	-	NULL	ENST00000443444.2	37	NULL	CCDS45621.1	17																																																																																			RP11-92B11.3	-	-		0.473	CCDC144A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000264673	Clone_based_vega_gene	protein_coding		G			16692371	-1	no_errors	ENST00000578710	ensembl	human	known	70_37	rna	SNP	0.165	C
RP11-271K11.5	0	genome.wustl.edu	37	17	29369075	29369075	+	RNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:29369075G>A	ENST00000583112.1	-	0	700																		p.?(1)									GAATGCTAGAGATGGGCTGAG	0.323																																																	1	Unknown(1)	central_nervous_system(1)																																										0																															17.37:g.29369075G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000583112.1	37	NULL		17																																																																																			RP11-271K11.5	-	-		0.323	RP11-271K11.5-002	KNOWN	basic	processed_transcript	ENSG00000265798	Clone_based_vega_gene	pseudogene	OTTHUMT00000444574.1	G			29369075	-1	no_errors	ENST00000581652	ensembl	human	known	70_37	rna	SNP	0.733	A
RP11-271K11.5	0	genome.wustl.edu	37	17	29369083	29369083	+	RNA	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:29369083G>C	ENST00000583112.1	-	0	700																		p.?(1)									GAGATGGGCTGAGACCCTATA	0.303																																																	1	Unknown(1)	central_nervous_system(1)																																										0																															17.37:g.29369083G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000583112.1	37	NULL		17																																																																																			RP11-271K11.5	-	-		0.303	RP11-271K11.5-002	KNOWN	basic	processed_transcript	ENSG00000265798	Clone_based_vega_gene	pseudogene	OTTHUMT00000444574.1	G			29369083	-1	no_errors	ENST00000581652	ensembl	human	known	70_37	rna	SNP	0.842	C
AC015849.16	0	genome.wustl.edu	37	17	34234194	34234194	+	lincRNA	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:34234194C>G	ENST00000587132.1	-	0	3833																											CTGTAATGCTCGGCAAGGTAT	0.488																																																	0																																												0																															17.37:g.34234194C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000587132.1	37	NULL		17																																																																																			AC015849.16	-	-		0.488	AC015849.16-001	KNOWN	basic	lincRNA	ENSG00000266999	Clone_based_vega_gene	lincRNA	OTTHUMT00000449325.1	C			34234194	-1	no_errors	ENST00000587132	ensembl	human	known	70_37	rna	SNP	0.000	G
ADAMTSL5	339366	genome.wustl.edu	37	19	1508422	1508422	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:1508422G>A	ENST00000413997.2	-	6	519				ADAMTSL5_ENST00000590562.1_Intron|ADAMTSL5_ENST00000395467.2_Intron|ADAMTSL5_ENST00000330475.4_Intron|CTB-25B13.9_ENST00000590252.1_RNA			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5							extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		gggctcgggcggggCCTGACG	0.726																																																	0													3.0	4.0	3.0					19																	1508422		1896	3728	5624	SO:0001627	intron_variant	0			BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain containing 6"""	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.519+19C>T	19.37:g.1508422G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXK7|Q8IW95	RNA	SNP	-	NULL	ENST00000413997.2	37	NULL		19																																																																																			CTB-25B13.9	-	-		0.726	ADAMTSL5-202	KNOWN	basic	protein_coding	ENSG00000267092	Clone_based_vega_gene	protein_coding		G	XM_294919		1508422	+1	no_errors	ENST00000590252	ensembl	human	known	70_37	rna	SNP	0.002	A
MRPL4	51073	genome.wustl.edu	37	19	10370507	10370507	+	3'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:10370507G>A	ENST00000253099.6	+	0	1241				MRPL4_ENST00000393733.2_3'UTR|CTD-2369P2.4_ENST00000587088.1_RNA|MRPL4_ENST00000307422.5_3'UTR|CTD-2369P2.5_ENST00000592893.1_RNA	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4						translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		CACCTCTTCTGAGCCAGGCCG	0.662																																																	0													32.0	35.0	34.0					19																	10370507		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.*18G>A	19.37:g.10370507G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNV7|Q9BW07|Q9H4N2|Q9Y317	RNA	SNP	-	NULL	ENST00000253099.6	37	NULL	CCDS12230.1	19																																																																																			CTD-2369P2.4	-	-		0.662	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267105	Clone_based_vega_gene	protein_coding	OTTHUMT00000451197.1	G			10370507	-1	no_errors	ENST00000587088	ensembl	human	known	70_37	rna	SNP	0.112	A
LRRC37A4P	55073	genome.wustl.edu	37	17	43626600	43626600	+	RNA	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:43626600C>G	ENST00000586411.1	-	0	1652				RP11-798G7.6_ENST00000586348.1_lincRNA																							CTAGAAGACTCAGAAGGCTGA	0.532																																																	0																																												0																															17.37:g.43626600C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000586411.1	37	NULL		17																																																																																			RP11-798G7.6	-	-		0.532	RP11-798G7.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000267198	Clone_based_vega_gene	processed_transcript	OTTHUMT00000452150.1	C			43626600	+1	no_errors	ENST00000590995	ensembl	human	known	70_37	rna	SNP	0.003	G
LOC100420587	100420587	genome.wustl.edu	37	19	29213613	29213613	+	lincRNA	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:29213613C>G	ENST00000592347.1	-	0	505																											TGAAAGTACTCGCTCAAGATT	0.478																																																	0																																												0																															19.37:g.29213613C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000592347.1	37	NULL		19																																																																																			AC005307.3	-	-		0.478	AC005307.3-001	KNOWN	basic	lincRNA	ENSG00000267243	Clone_based_vega_gene	lincRNA	OTTHUMT00000453069.1	C			29213613	-1	no_errors	ENST00000590072	ensembl	human	known	70_37	rna	SNP	0.001	G
MGAT5B	146664	genome.wustl.edu	37	17	74946467	74946467	+	IGR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:74946467G>C	ENST00000569840.2	+	0	4492				RP11-87G24.3_ENST00000564292.1_RNA	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B						protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTGAGGTGCAGAAGAGGAACT	0.473																																																	0																																										SO:0001628	intergenic_variant	0			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278		17.37:g.74946467G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	RNA	SNP	-	NULL	ENST00000569840.2	37	NULL	CCDS59299.1	17																																																																																			RP11-87G24.3	-	-		0.473	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000267568	Clone_based_vega_gene	protein_coding	OTTHUMT00000460624.2	G	NM_144677		74946467	-1	no_errors	ENST00000585902	ensembl	human	known	70_37	rna	SNP	0.948	C
LCAT	3931	genome.wustl.edu	37	16	67977544	67977544	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:67977544G>C	ENST00000264005.5	-	1	184				SLC12A4_ENST00000422611.2_3'UTR|CTC-479C5.17_ENST00000590594.1_lincRNA	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase						cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		AGGAGTGGTGGGGCTTGGCCC	0.667																																																	0																																										SO:0001627	intron_variant	0				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.154+306C>G	16.37:g.67977544G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XQ3	RNA	SNP	-	NULL	ENST00000264005.5	37	NULL	CCDS10854.1	16																																																																																			CTC-479C5.17	-	-		0.667	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267660	Clone_based_vega_gene	protein_coding	OTTHUMT00000268885.3	G			67977544	-1	no_errors	ENST00000590594	ensembl	human	known	70_37	rna	SNP	0.348	C
SYMPK	8189	genome.wustl.edu	37	19	46333530	46333530	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:46333530C>G	ENST00000245934.7	-	13	1843				AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin						cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TGGTGACTCTCCCAACTTCAA	0.582																																																	0																																										SO:0001627	intron_variant	0			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1599-68G>C	19.37:g.46333530C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O00521|O00689|O00733|Q59GT5|Q8N2U5	RNA	SNP	-	NULL	ENST00000245934.7	37	NULL	CCDS12676.2	19																																																																																			AC092301.3	-	-		0.582	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000269148	Clone_based_vega_gene	protein_coding	OTTHUMT00000316581.1	C	NM_004819		46333530	+1	no_errors	ENST00000601618	ensembl	human	known	70_37	rna	SNP	0.001	G
Unknown	0	genome.wustl.edu	37	5	68931254	68931254	+	IGR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:68931254C>T								RP11-848G14.2 (11378 upstream) : GUSBP3 (4031 downstream)																							CAGCCCAGGTCACCTCGCTGA	0.637																																																	0																																										SO:0001628	intergenic_variant	0																															5.37:g.68931254C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.V17		37	c.51		5																																																																																			AC139495.1	-	NULL	0	0.637					ENSG00000269208	Clone_based_ensembl_gene			C			68931254	-1	no_errors	ENST00000596065	ensembl	human	novel	70_37	silent	SNP	0.000	T
RYR1	6261	genome.wustl.edu	37	19	39017603	39017603	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:39017603G>C	ENST00000359596.3	+	72	10626				AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000355481.4_Intron|RYR1_ENST00000360985.3_Intron			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)						calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGGACCTCCAGAGTGACCCAG	0.577																																																	0													75.0	67.0	69.0					19																	39017603		2203	4300	6503	SO:0001627	intron_variant	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10627-30G>C	19.37:g.39017603G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	RNA	SNP	-	NULL	ENST00000359596.3	37	NULL	CCDS33011.1	19																																																																																			AC067969.1	-	-		0.577	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000269445	Clone_based_vega_gene	protein_coding	OTTHUMT00000462137.1	G			39017603	-1	no_errors	ENST00000597015	ensembl	human	known	70_37	rna	SNP	0.000	C
LOXL2	4017	genome.wustl.edu	37	8	23243543	23243543	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:23243543C>T	ENST00000389131.3	-	2	287				ENTPD4_ENST00000356206.6_Silent_p.L538L	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2						aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		aaggtattatcagcatcccta	0.448																																																	0													111.0	103.0	105.0					8																	23243543		876	1991	2867	SO:0001627	intron_variant	9583			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.83-17596G>A	8.37:g.23243543C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	pfam_GDA1_CD39_NTPase	p.L538	ENST00000389131.3	37	c.1614	CCDS34864.1	8																																																																																			ENTPD4	-	NULL		0.448	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD4	HGNC	protein_coding	OTTHUMT00000375603.1	C			23243543	-1	no_errors	ENST00000356206	ensembl	human	putative	70_37	silent	SNP	0.001	T
EOMES	8320	genome.wustl.edu	37	3	27758889	27758889	+	Missense_Mutation	SNP	C	C	T	rs141551851	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:27758889C>T	ENST00000295743.4	-	6	1936	c.1733G>A	c.(1732-1734)cGa>cAa	p.R578Q	EOMES_ENST00000537516.1_Missense_Mutation_p.R302Q|EOMES_ENST00000449599.1_Missense_Mutation_p.R597Q|EOMES_ENST00000461503.1_5'Flank			O95936	EOMES_HUMAN	eomesodermin	578	Required for transcription activation. {ECO:0000250}.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GTAAGAACCTCGACCTCCCCA	0.527													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17382	0.0		0.0	False		,,,				2504	0.0																0								C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	64.0	67.0	66.0		1733	4.2	0.2	3	dbSNP_134	66	0,8600		0,0,4300	no	missense	EOMES	NM_005442.2	43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	578/687	27758889	3,13003	2203	4300	6503	SO:0001583	missense	8320			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1733G>A	3.37:g.27758889C>T	ENSP00000295743:p.Arg578Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R597Q	ENST00000295743.4	37	c.1790	CCDS2646.1	3	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863135	0.71949	6.81E-4	0.0	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.86769	-2.13;-2.17;-1.82	5.05	4.18	0.49190	.	0.103919	0.64402	D	0.000006	D	0.92792	0.7708	M	0.79475	2.455	0.58432	D	0.999999	D;D;D	0.89917	0.981;1.0;1.0	P;D;D	0.91635	0.644;0.999;0.997	D	0.93167	0.6563	10	0.54805	T	0.06	.	14.1001	0.65049	0.0:0.9265:0.0:0.0735	.	311;597;578	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	Q	578;597;302;462	ENSP00000295743:R578Q;ENSP00000388620:R597Q;ENSP00000442097:R302Q	ENSP00000295743:R578Q	R	-	2	0	EOMES	27733893	1.000000	0.71417	0.188000	0.23233	0.977000	0.68977	5.701000	0.68325	1.447000	0.47661	0.563000	0.77884	CGA	EOMES	-	NULL		0.527	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	HGNC	protein_coding	OTTHUMT00000252995.1	C	NM_005442		27758889	-1	no_errors	ENST00000449599	ensembl	human	known	70_37	missense	SNP	1.000	T
EP400	57634	genome.wustl.edu	37	12	132504700	132504700	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:132504700C>G	ENST00000333577.4	+	23	4601	c.4492C>G	c.(4492-4494)Cca>Gca	p.P1498A	EP400_ENST00000389562.2_Missense_Mutation_p.P1461A|EP400_ENST00000330386.6_Missense_Mutation_p.P1462A|EP400_ENST00000332482.4_Missense_Mutation_p.P1425A|EP400_ENST00000389561.2_Missense_Mutation_p.P1462A			Q96L91	EP400_HUMAN	E1A binding protein p400	1498					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTCTGCTGCTCCACAGGGCCC	0.657																																																	0													42.0	46.0	45.0					12																	132504700		2203	4299	6502	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4492C>G	12.37:g.132504700C>G	ENSP00000333602:p.Pro1498Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P1498A	ENST00000333577.4	37	c.4492		12	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288368	0.23478	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.89939	-2.57;-2.56;-2.57;-2.57;-2.59	5.56	3.4	0.38934	.	0.589961	0.18412	N	0.142035	T	0.82153	0.4975	L	0.36672	1.1	0.09310	N	1	P;P;P	0.42296	0.775;0.775;0.775	B;B;B	0.36464	0.225;0.164;0.225	T	0.72795	-0.4185	10	0.34782	T	0.22	.	13.172	0.59604	0.0:0.848:0.0:0.152	.	1462;1462;1461	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	A	1498;1462;1461;1425;1462;1462;1462	ENSP00000333602:P1498A;ENSP00000374212:P1462A;ENSP00000374213:P1461A;ENSP00000331737:P1425A;ENSP00000330620:P1462A	ENSP00000330620:P1462A	P	+	1	0	EP400	131070653	0.186000	0.23225	0.073000	0.20177	0.674000	0.39518	2.160000	0.42348	1.344000	0.45657	-0.145000	0.13849	CCA	EP400	-	NULL		0.657	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		C	NM_015409		132504700	+1	no_errors	ENST00000333577	ensembl	human	known	70_37	missense	SNP	0.156	G
EPB41L4B	54566	genome.wustl.edu	37	9	112018705	112018705	+	Missense_Mutation	SNP	C	C	G	rs267602079		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:112018705C>G	ENST00000374566.3	-	8	1325	c.808G>C	c.(808-810)Gaa>Caa	p.E270Q	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.E270Q	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	270	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCATACATTTCCAGCCACTTC	0.423																																																	0													127.0	123.0	125.0					9																	112018705		1933	4137	6070	SO:0001583	missense	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.808G>C	9.37:g.112018705C>G	ENSP00000363694:p.Glu270Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E270Q	ENST00000374566.3	37	c.808	CCDS43859.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.178487	0.94846	.	.	ENSG00000095203	ENST00000374566;ENST00000374557;ENST00000311609	D;D	0.87491	-2.26;-2.26	5.84	5.84	0.93424	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.000000	0.41294	D	0.000903	D	0.95614	0.8574	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.95817	0.8846	10	0.66056	D	0.02	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	270;270	Q9H329-2;Q9H329	.;E41LB_HUMAN	Q	270;270;192	ENSP00000363694:E270Q;ENSP00000363685:E270Q	ENSP00000311274:E192Q	E	-	1	0	EPB41L4B	111058526	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.579000	0.82511	2.779000	0.95612	0.655000	0.94253	GAA	EPB41L4B	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam		0.423	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L4B	HGNC	protein_coding	OTTHUMT00000053592.1	C	NM_018424		112018705	-1	no_errors	ENST00000374566	ensembl	human	known	70_37	missense	SNP	1.000	G
EPC1	80314	genome.wustl.edu	37	10	32581511	32581511	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:32581511C>T	ENST00000263062.8	-	5	997	c.728G>A	c.(727-729)cGa>cAa	p.R243Q	EPC1_ENST00000319778.6_Missense_Mutation_p.R243Q|EPC1_ENST00000375110.2_Missense_Mutation_p.R193Q	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	243					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				AGTAACAGCTCGACTTAGATC	0.328																																																	0													105.0	102.0	103.0					10																	32581511		2202	4300	6502	SO:0001583	missense	80314			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.728G>A	10.37:g.32581511C>T	ENSP00000263062:p.Arg243Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.R243Q	ENST00000263062.8	37	c.728	CCDS7172.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.851529	0.97023	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.79149	0.4397	M	0.66506	2.035	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.954	D;D;D;P	0.83275	0.971;0.996;0.991;0.486	T	0.77933	-0.2402	9	0.51188	T	0.08	-13.6586	20.0627	0.97684	0.0:1.0:0.0:0.0	.	243;193;243;243	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	Q	193;243;243	.	ENSP00000263062:R243Q	R	-	2	0	EPC1	32621517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.807000	0.96579	0.591000	0.81541	CGA	EPC1	-	NULL		0.328	EPC1-004	KNOWN	basic|CCDS	protein_coding	EPC1	HGNC	protein_coding	OTTHUMT00000047484.1	C			32581511	-1	no_errors	ENST00000263062	ensembl	human	known	70_37	missense	SNP	1.000	T
EPG5	57724	genome.wustl.edu	37	18	43535289	43535289	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:43535289C>T	ENST00000282041.5	-	2	113	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	27					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGAGGAGTTTCATACTTCTTC	0.368																																																	0													49.0	44.0	46.0					18																	43535289		1825	4082	5907	SO:0001583	missense	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.79G>A	18.37:g.43535289C>T	ENSP00000282041:p.Glu27Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.E27K	ENST00000282041.5	37	c.79	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871695	0.72065	.	.	ENSG00000152223	ENST00000282041	T	0.16073	2.37	5.9	5.03	0.67393	.	1.438130	0.03790	N	0.262682	T	0.17238	0.0414	N	0.24115	0.695	0.27777	N	0.943296	P;P	0.49559	0.787;0.925	B;B	0.41510	0.359;0.359	T	0.30387	-0.9980	10	0.66056	D	0.02	-6.4974	12.7882	0.57518	0.0:0.9251:0.0:0.0749	.	27;27	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	K	27	ENSP00000282041:E27K	ENSP00000282041:E27K	E	-	1	0	EPG5	41789287	0.999000	0.42202	0.966000	0.40874	0.425000	0.31504	3.231000	0.51294	2.786000	0.95864	0.563000	0.77884	GAA	EPG5	-	NULL		0.368	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	C	NM_020964		43535289	-1	no_errors	ENST00000282041	ensembl	human	known	70_37	missense	SNP	0.977	T
EPHA2	1969	genome.wustl.edu	37	1	16458615	16458615	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16458615C>G	ENST00000358432.5	-	13	2423	c.2269G>C	c.(2269-2271)Gac>Cac	p.D757H		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	757	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	AGGCCAAAGTCAGACACCTTG	0.612																																																	0													165.0	141.0	150.0					1																	16458615		2203	4300	6503	SO:0001583	missense	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2269G>C	1.37:g.16458615C>G	ENSP00000351209:p.Asp757His	Somatic		WXS	Illumina HiSeq	Phase_IV	B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.D757H	ENST00000358432.5	37	c.2269	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.109120	0.94292	.	.	ENSG00000142627	ENST00000358432	D	0.88354	-2.37	6.07	6.07	0.98685	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000009	D	0.96926	0.8996	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97839	1.0267	10	0.87932	D	0	.	18.1378	0.89627	0.0:1.0:0.0:0.0	.	757	P29317	EPHA2_HUMAN	H	757	ENSP00000351209:D757H	ENSP00000351209:D757H	D	-	1	0	EPHA2	16331202	1.000000	0.71417	0.970000	0.41538	0.994000	0.84299	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	GAC	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.612	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	C	NM_004431		16458615	-1	no_errors	ENST00000358432	ensembl	human	known	70_37	missense	SNP	1.000	G
EPHA2	1969	genome.wustl.edu	37	1	16464585	16464585	+	Missense_Mutation	SNP	C	C	T	rs368150751		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16464585C>T	ENST00000358432.5	-	5	1229	c.1075G>A	c.(1075-1077)Gac>Aac	p.D359N		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	359	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TAGACAATGTCCTCGCGGCCC	0.682																																																	0								C	ASN/ASP	0,4406		0,0,2203	41.0	37.0	39.0		1075	5.0	0.3	1		39	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPHA2	NM_004431.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	359/977	16464585	1,13005	2203	4300	6503	SO:0001583	missense	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1075G>A	1.37:g.16464585C>T	ENSP00000351209:p.Asp359Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.D359N	ENST00000358432.5	37	c.1075	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931372	0.52866	0.0	1.16E-4	ENSG00000142627	ENST00000358432	T	0.58210	0.35	4.97	4.97	0.65823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000037	T	0.78761	0.4334	M	0.93016	3.37	0.80722	D	1	B;D	0.76494	0.397;0.999	B;D	0.81914	0.148;0.995	D	0.84394	0.0556	10	0.87932	D	0	.	16.1088	0.81244	0.0:1.0:0.0:0.0	.	359;359	B5A968;P29317	.;EPHA2_HUMAN	N	359	ENSP00000351209:D359N	ENSP00000351209:D359N	D	-	1	0	EPHA2	16337172	1.000000	0.71417	0.317000	0.25265	0.209000	0.24338	7.740000	0.84986	2.488000	0.83962	0.561000	0.74099	GAC	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.682	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	C	NM_004431		16464585	-1	no_errors	ENST00000358432	ensembl	human	known	70_37	missense	SNP	1.000	T
EPHA3	2042	genome.wustl.edu	37	3	89468357	89468357	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:89468357G>A	ENST00000336596.2	+	11	2116	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	EPHA3_ENST00000494014.1_Missense_Mutation_p.E631K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	631	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TATAACAGGTGAATTTGGAGA	0.343										TSP Lung(6;0.00050)																																							0													81.0	85.0	83.0					3																	89468357		2202	4295	6497	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1891G>A	3.37:g.89468357G>A	ENSP00000337451:p.Glu631Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.E631K	ENST00000336596.2	37	c.1891	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.441664	0.96187	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.61980	0.06;0.06	5.8	5.8	0.92144	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68183	0.2973	N	0.17764	0.52	0.80722	D	1	D	0.67145	0.996	D	0.72338	0.977	T	0.65500	-0.6153	9	.	.	.	.	20.062	0.97678	0.0:0.0:1.0:0.0	.	631	P29320	EPHA3_HUMAN	K	631	ENSP00000337451:E631K;ENSP00000419190:E631K	.	E	+	1	0	EPHA3	89551047	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.730000	0.93505	0.563000	0.77884	GAA	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.343	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	G	NM_005233		89468357	+1	no_errors	ENST00000336596	ensembl	human	known	70_37	missense	SNP	1.000	A
EPHA4	2043	genome.wustl.edu	37	2	222283737	222283737	+	3'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:222283737C>G	ENST00000281821.2	-	0	5357				EPHA4_ENST00000469354.1_5'UTR	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4						adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ATGATTTTCTCTACTTATTCA	0.348																																																	0																																										SO:0001624	3_prime_UTR_variant	2043			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.*2355G>C	2.37:g.222283737C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2P1|B2R601|B7Z6Q8|Q2M380	RNA	SNP	-	NULL	ENST00000281821.2	37	NULL	CCDS2447.1	2																																																																																			EPHA4	-	-		0.348	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	C			222283737	-1	no_errors	ENST00000469354	ensembl	human	putative	70_37	rna	SNP	0.001	G
EPHA4	2043	genome.wustl.edu	37	2	222307658	222307658	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:222307658C>T	ENST00000281821.2	-	11	2006	c.1965G>A	c.(1963-1965)ctG>ctA	p.L655L	EPHA4_ENST00000409938.1_Silent_p.L655L|EPHA4_ENST00000392071.4_Silent_p.L604L|EPHA4_ENST00000409854.1_Silent_p.L655L	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	655	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		AACCAGCTTTCAGAGTCTTGA	0.478																																																	0													132.0	125.0	127.0					2																	222307658		2203	4300	6503	SO:0001819	synonymous_variant	2043			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1965G>A	2.37:g.222307658C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2P1|B2R601|B7Z6Q8|Q2M380	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L655	ENST00000281821.2	37	c.1965	CCDS2447.1	2																																																																																			EPHA4	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom		0.478	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	C			222307658	-1	no_errors	ENST00000281821	ensembl	human	known	70_37	silent	SNP	1.000	T
EPHA5	2044	genome.wustl.edu	37	4	66280088	66280088	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:66280088G>A	ENST00000273854.3	-	7	2201	c.1601C>T	c.(1600-1602)tCa>tTa	p.S534L	EPHA5_ENST00000354839.4_Missense_Mutation_p.S534L|EPHA5_ENST00000432638.2_Missense_Mutation_p.S370L|EPHA5_ENST00000511294.1_Missense_Mutation_p.S534L	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	534	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GACATAAACTGAAGCTGGTTT	0.423										TSP Lung(17;0.13)																																							0													188.0	150.0	163.0					4																	66280088		2203	4300	6503	SO:0001583	missense	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1601C>T	4.37:g.66280088G>A	ENSP00000273854:p.Ser534Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S534L	ENST00000273854.3	37	c.1601	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.161560	0.94727	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000076	T	0.51890	0.1701	L	0.33189	0.99	0.58432	D	0.999999	P;B;P;P	0.49961	0.587;0.003;0.532;0.93	B;B;B;P	0.45167	0.403;0.036;0.281;0.472	T	0.54159	-0.8335	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	534;534;534;534	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	L	534;370;534;534	ENSP00000273854:S534L;ENSP00000389208:S370L;ENSP00000346899:S534L;ENSP00000427638:S534L	ENSP00000273854:S534L	S	-	2	0	EPHA5	65962683	1.000000	0.71417	0.856000	0.33681	0.871000	0.50021	7.848000	0.86902	2.941000	0.99782	0.655000	0.94253	TCA	EPHA5	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.423	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	G	NM_004439		66280088	-1	no_errors	ENST00000273854	ensembl	human	known	70_37	missense	SNP	0.994	A
EPHA7	2045	genome.wustl.edu	37	6	94066513	94066513	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:94066513C>T	ENST00000369303.4	-	5	1430	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	416	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTTACAGCTTCAACTTCAAAA	0.443																																																	0													115.0	112.0	113.0					6																	94066513		2203	4300	6503	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1246G>A	6.37:g.94066513C>T	ENSP00000358309:p.Glu416Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E416K	ENST00000369303.4	37	c.1246	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742952	0.89573	.	.	ENSG00000135333	ENST00000369303	T	0.56103	0.48	5.85	5.85	0.93711	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56906	0.2017	M	0.74647	2.275	0.80722	D	1	P;B;D	0.55172	0.928;0.256;0.97	P;B;P	0.48425	0.452;0.112;0.577	T	0.61652	-0.7019	10	0.56958	D	0.05	.	20.1606	0.98132	0.0:1.0:0.0:0.0	.	416;416;416	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	K	416	ENSP00000358309:E416K	ENSP00000358309:E416K	E	-	1	0	EPHA7	94123234	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.792000	0.85828	2.772000	0.95346	0.650000	0.86243	GAA	EPHA7	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.443	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	C			94066513	-1	no_errors	ENST00000369303	ensembl	human	known	70_37	missense	SNP	1.000	T
EPM2AIP1	9852	genome.wustl.edu	37	3	37033287	37033287	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:37033287C>T	ENST00000322716.5	-	1	1508	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000455445.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	428					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						AGATTTTTTTCCTCAATATGT	0.343																																																	0													52.0	53.0	53.0					3																	37033287		1836	4086	5922	SO:0001583	missense	9852			AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1282G>A	3.37:g.37033287C>T	ENSP00000406027:p.Glu428Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O94866|Q9H3L3	Missense_Mutation	SNP	NULL	p.E428K	ENST00000322716.5	37	c.1282	CCDS46790.1	3	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036096	0.35893	.	.	ENSG00000178567	ENST00000322716	T	0.14391	2.51	4.52	4.52	0.55395	.	.	.	.	.	T	0.10809	0.0264	N	0.25890	0.77	0.09310	N	1	P	0.40834	0.73	B	0.41917	0.37	T	0.14420	-1.0473	9	0.14656	T	0.56	-17.1873	10.6236	0.45495	0.0:0.8053:0.1947:0.0	.	428	Q7L775	EPMIP_HUMAN	K	428	ENSP00000406027:E428K	ENSP00000406027:E428K	E	-	1	0	EPM2AIP1	37008291	0.467000	0.25831	0.948000	0.38648	0.742000	0.42306	2.503000	0.45407	2.330000	0.79161	0.655000	0.94253	GAA	EPM2AIP1	-	NULL		0.343	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPM2AIP1	HGNC	protein_coding	OTTHUMT00000470593.1	C	NM_014805		37033287	-1	no_errors	ENST00000322716	ensembl	human	known	70_37	missense	SNP	0.107	T
EPHB3	2049	genome.wustl.edu	37	3	184295250	184295250	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:184295250G>C	ENST00000330394.2	+	6	1926	c.1474G>C	c.(1474-1476)Gag>Cag	p.E492Q	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	492	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GAAGTACTTTGAGAAGGTCAG	0.602																																																	0													51.0	56.0	54.0					3																	184295250		2203	4300	6503	SO:0001583	missense	2049			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1474G>C	3.37:g.184295250G>C	ENSP00000332118:p.Glu492Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z740	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E492Q	ENST00000330394.2	37	c.1474	CCDS3268.1	3	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459029	0.63401	.	.	ENSG00000182580	ENST00000330394	T	0.57595	0.39	5.3	5.3	0.74995	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.123765	0.56097	D	0.000040	T	0.53110	0.1776	M	0.63428	1.95	0.58432	D	0.999996	B	0.27068	0.167	B	0.30646	0.118	T	0.56171	-0.8023	10	0.72032	D	0.01	.	13.9873	0.64343	0.0:0.1516:0.8484:0.0	.	492	P54753	EPHB3_HUMAN	Q	492	ENSP00000332118:E492Q	ENSP00000332118:E492Q	E	+	1	0	EPHB3	185777944	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.831000	0.86748	2.649000	0.89929	0.448000	0.29417	GAG	EPHB3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.602	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	HGNC	protein_coding	OTTHUMT00000345413.1	G	NM_004443		184295250	+1	no_errors	ENST00000330394	ensembl	human	known	70_37	missense	SNP	1.000	C
EPN2	22905	genome.wustl.edu	37	17	19186876	19186876	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:19186876C>G	ENST00000314728.5	+	3	928	c.444C>G	c.(442-444)ctC>ctG	p.L148L	EPN2_ENST00000395620.2_Silent_p.L148L|EPN2_ENST00000347697.2_Silent_p.L148L|EPN2_ENST00000571254.1_Silent_p.L148L|EPN2_ENST00000395626.1_Silent_p.L148L|EPN2_ENST00000395618.3_Intron|EPN2_ENST00000575595.1_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	148					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCCAGGCTCTCAAAACCAAAG	0.592																																																	0													53.0	54.0	54.0					17																	19186876		2203	4300	6503	SO:0001819	synonymous_variant	22905			AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.444C>G	17.37:g.19186876C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Silent	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.L148	ENST00000314728.5	37	c.444	CCDS11203.1	17																																																																																			EPN2	-	NULL		0.592	EPN2-001	KNOWN	basic|CCDS	protein_coding	EPN2	HGNC	protein_coding	OTTHUMT00000132283.3	C	NM_014964		19186876	+1	no_errors	ENST00000314728	ensembl	human	known	70_37	silent	SNP	1.000	G
EPPK1	83481	genome.wustl.edu	37	8	144942649	144942649	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:144942649C>G	ENST00000525985.1	-	2	4844	c.4773G>C	c.(4771-4773)ctG>ctC	p.L1591L				P58107	EPIPL_HUMAN	epiplakin 1	1591						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTGCCTCCTCAGGGCCTCTG	0.647																																																	0													24.0	27.0	26.0					8																	144942649		2030	4172	6202	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4773G>C	8.37:g.144942649C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.L1591	ENST00000525985.1	37	c.4773		8																																																																																			EPPK1	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.647	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	C	NM_031308		144942649	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	silent	SNP	0.023	G
EPPK1	83481	genome.wustl.edu	37	8	144942883	144942883	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:144942883C>G	ENST00000525985.1	-	2	4610	c.4539G>C	c.(4537-4539)gaG>gaC	p.E1513D				P58107	EPIPL_HUMAN	epiplakin 1	1513						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGGCTGCCTCTCTGCAGCCT	0.682																																																	0													11.0	13.0	12.0					8																	144942883		2068	4193	6261	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4539G>C	8.37:g.144942883C>G	ENSP00000436337:p.Glu1513Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.E1513D	ENST00000525985.1	37	c.4539		8	.	.	.	.	.	.	.	.	.	.	C	9.148	1.015518	0.19355	.	.	ENSG00000227184	ENST00000525985	T	0.75367	-0.93	4.54	-0.394	0.12434	.	.	.	.	.	T	0.75729	0.3889	M	0.64997	1.995	0.09310	N	1	D	0.63880	0.993	P	0.60173	0.87	T	0.62937	-0.6748	9	0.20046	T	0.44	.	4.4138	0.11447	0.0:0.4951:0.1581:0.3468	.	1513	E9PPU0	.	D	1513	ENSP00000436337:E1513D	ENSP00000436337:E1513D	E	-	3	2	EPPK1	145014871	0.022000	0.18835	0.000000	0.03702	0.034000	0.12701	0.184000	0.16939	-0.299000	0.08909	0.591000	0.81541	GAG	EPPK1	-	NULL		0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	C	NM_031308		144942883	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	missense	SNP	0.011	G
EPPK1	83481	genome.wustl.edu	37	8	144943044	144943044	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:144943044C>G	ENST00000525985.1	-	2	4449	c.4378G>C	c.(4378-4380)Ggg>Cgg	p.G1460R				P58107	EPIPL_HUMAN	epiplakin 1	1460						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTAAACCTCCCTGTGCTGACG	0.622																																																	0													38.0	42.0	40.0					8																	144943044		2189	4275	6464	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4378G>C	8.37:g.144943044C>G	ENSP00000436337:p.Gly1460Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.G1460R	ENST00000525985.1	37	c.4378		8	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852463	0.51270	.	.	ENSG00000227184	ENST00000525985	T	0.74842	-0.88	4.49	4.49	0.54785	.	.	.	.	.	D	0.83161	0.5194	M	0.72894	2.215	0.35645	D	0.811286	D	0.89917	1.0	D	0.74023	0.982	D	0.83775	0.0222	9	0.19590	T	0.45	.	14.7235	0.69326	0.0:1.0:0.0:0.0	.	1460	E9PPU0	.	R	1460	ENSP00000436337:G1460R	ENSP00000436337:G1460R	G	-	1	0	EPPK1	145015032	0.997000	0.39634	0.911000	0.35937	0.117000	0.20001	4.639000	0.61361	2.326000	0.78906	0.655000	0.94253	GGG	EPPK1	-	NULL		0.622	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	C	NM_031308		144943044	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	missense	SNP	0.995	G
EPPK1	83481	genome.wustl.edu	37	8	144945320	144945320	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:144945320G>C	ENST00000525985.1	-	2	2173	c.2102C>G	c.(2101-2103)tCc>tGc	p.S701C				P58107	EPIPL_HUMAN	epiplakin 1	701						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGAAGAGGGAGATCTGCTG	0.662																																																	0													52.0	56.0	55.0					8																	144945320		2149	4260	6409	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2102C>G	8.37:g.144945320G>C	ENSP00000436337:p.Ser701Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.S701C	ENST00000525985.1	37	c.2102		8	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102535	0.76983	.	.	ENSG00000227184	ENST00000525985	T	0.74209	-0.82	5.06	5.06	0.68205	.	.	.	.	.	D	0.86957	0.6058	M	0.84082	2.675	0.45250	D	0.998252	D	0.89917	1.0	D	0.97110	1.0	D	0.88651	0.3182	9	0.87932	D	0	.	15.9742	0.80049	0.0:0.0:1.0:0.0	.	701	E9PPU0	.	C	701	ENSP00000436337:S701C	ENSP00000436337:S701C	S	-	2	0	EPPK1	145017308	1.000000	0.71417	0.998000	0.56505	0.635000	0.38103	9.501000	0.97979	2.643000	0.89663	0.655000	0.94253	TCC	EPPK1	-	smart_Plectin_repeat		0.662	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	G	NM_031308		144945320	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	missense	SNP	1.000	C
EPRS	2058	genome.wustl.edu	37	1	220219795	220219795	+	5'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:220219795G>A	ENST00000366923.3	-	0	205					NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase						cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	GGAGGACCCCGCGAAAGGAAG	0.667																																																	0													46.0	47.0	47.0					1																	220219795		692	1591	2283	SO:0001623	5_prime_UTR_variant	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.-65C>T	1.37:g.220219795G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	RNA	SNP	-	NULL	ENST00000366923.3	37	NULL	CCDS31027.1	1																																																																																			EPRS	-	-		0.667	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	G	NM_004446		220219795	-1	no_errors	ENST00000477030	ensembl	human	known	70_37	rna	SNP	0.000	A
EPX	8288	genome.wustl.edu	37	17	56277152	56277152	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:56277152G>A	ENST00000225371.5	+	9	1644	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	512					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	GATCGTGTATGAAGGTGACCA	0.612																																																	0													62.0	57.0	59.0					17																	56277152		2203	4300	6503	SO:0001583	missense	8288			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1534G>A	17.37:g.56277152G>A	ENSP00000225371:p.Glu512Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4TVP3	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.E512K	ENST00000225371.5	37	c.1534	CCDS11602.1	17	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744220	0.89663	.	.	ENSG00000121053	ENST00000225371	T	0.73575	-0.76	5.51	4.51	0.55191	.	0.186663	0.56097	D	0.000030	T	0.82089	0.4961	M	0.81802	2.56	0.58432	D	0.999999	D	0.55605	0.972	P	0.53006	0.715	D	0.85108	0.0961	10	0.72032	D	0.01	-9.1143	14.1985	0.65686	0.0:0.1508:0.8492:0.0	.	512	P11678	PERE_HUMAN	K	512	ENSP00000225371:E512K	ENSP00000225371:E512K	E	+	1	0	EPX	53632151	1.000000	0.71417	0.872000	0.34217	0.604000	0.37047	4.604000	0.61112	1.407000	0.46875	0.655000	0.94253	GAA	EPX	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.612	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPX	HGNC	protein_coding	OTTHUMT00000443367.1	G	NM_000502		56277152	+1	no_errors	ENST00000225371	ensembl	human	known	70_37	missense	SNP	0.997	A
ERC2	26059	genome.wustl.edu	37	3	56173671	56173671	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:56173671C>G	ENST00000288221.6	-	6	1594	c.1339G>C	c.(1339-1341)Gag>Cag	p.E447Q		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	447						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		AGTTCCGACTCTTTCTTTGAA	0.388																																																	0													129.0	108.0	114.0					3																	56173671		1851	4102	5953	SO:0001583	missense	26059			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1339G>C	3.37:g.56173671C>G	ENSP00000288221:p.Glu447Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2T9F6|Q86TK4	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.E447Q	ENST00000288221.6	37	c.1339	CCDS46851.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.279379|5.279379	0.95489|0.95489	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000288221|ENST00000492584	D|T	0.83250|0.51574	-1.7|0.7	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.048070|.	0.85682|.	D|.	0.000000|.	T|T	0.63663|0.63663	0.2530|0.2530	L|L	0.55481|0.55481	1.735|1.735	0.58432|0.58432	D|D	0.999998|0.999998	P|.	0.46064|.	0.872|.	B|.	0.42827|.	0.399|.	T|T	0.62803|0.62803	-0.6777|-0.6777	10|7	0.66056|0.87932	D|D	0.02|0	-20.9728|-20.9728	20.4777|20.4777	0.99188|0.99188	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	447|.	O15083|.	ERC2_HUMAN|.	Q|N	447|85	ENSP00000288221:E447Q|ENSP00000417280:K85N	ENSP00000288221:E447Q|ENSP00000417280:K85N	E|K	-|-	1|3	0|2	ERC2|ERC2	56148711|56148711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAG|AAG	ERC2	-	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin		0.388	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	C	NM_015576		56173671	-1	no_errors	ENST00000288221	ensembl	human	known	70_37	missense	SNP	1.000	G
ERCC3	2071	genome.wustl.edu	37	2	128030510	128030510	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:128030510C>T	ENST00000285398.2	-	11	1852	c.1758G>A	c.(1756-1758)caG>caA	p.Q586Q	ERCC3_ENST00000493187.2_Silent_p.Q522Q	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	586	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCCTTTCCCCCTGAGACGTAG	0.438			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""		E	0													148.0	133.0	138.0					2																	128030510		2203	4300	6503	SO:0001819	synonymous_variant	2071	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1758G>A	2.37:g.128030510C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QM0	Silent	SNP	pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_XPGB_DNA_repair,tigrfam_XPGB_DNA_repair	p.Q586	ENST00000285398.2	37	c.1758	CCDS2144.1	2																																																																																			ERCC3	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C,tigrfam_XPGB_DNA_repair		0.438	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC3	HGNC	protein_coding	OTTHUMT00000331028.1	C	NM_000122		128030510	-1	no_errors	ENST00000285398	ensembl	human	known	70_37	silent	SNP	0.906	T
ERCC3	2071	genome.wustl.edu	37	2	128051204	128051204	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:128051204G>A	ENST00000285398.2	-	2	213	c.119C>T	c.(118-120)tCg>tTg	p.S40L	ERCC3_ENST00000493187.2_5'UTR	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	40					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCCCGCCGCCGAGGGAACCGC	0.567			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""		E	0													86.0	89.0	88.0					2																	128051204		2203	4300	6503	SO:0001583	missense	2071	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.119C>T	2.37:g.128051204G>A	ENSP00000285398:p.Ser40Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QM0	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_XPGB_DNA_repair,tigrfam_XPGB_DNA_repair	p.S40L	ENST00000285398.2	37	c.119	CCDS2144.1	2	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600704	0.46423	.	.	ENSG00000163161	ENST00000285398	T	0.63580	-0.05	4.65	4.65	0.58169	.	0.137219	0.50627	D	0.000113	T	0.48732	0.1516	N	0.20685	0.6	0.80722	D	1	B;B	0.21309	0.0;0.054	B;B	0.20577	0.002;0.03	T	0.40040	-0.9584	10	0.25751	T	0.34	-5.0141	17.7163	0.88338	0.0:0.0:1.0:0.0	.	40;40	A8K359;P19447	.;ERCC3_HUMAN	L	40	ENSP00000285398:S40L	ENSP00000285398:S40L	S	-	2	0	ERCC3	127767674	1.000000	0.71417	0.346000	0.25655	0.104000	0.19210	8.952000	0.93031	2.397000	0.81536	0.655000	0.94253	TCG	ERCC3	-	NULL		0.567	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC3	HGNC	protein_coding	OTTHUMT00000331028.1	G	NM_000122		128051204	-1	no_errors	ENST00000285398	ensembl	human	known	70_37	missense	SNP	0.933	A
ERCC6L2	375748	genome.wustl.edu	37	9	98643199	98643199	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:98643199G>C	ENST00000288985.7	+	2	433	c.128G>C	c.(127-129)gGa>gCa	p.G43A	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	43					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										CCAGATAATGGAAAACTTTGT	0.363																																																	0													63.0	66.0	65.0					9																	98643199		2203	4300	6503	SO:0001583	missense	375748			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.128G>C	9.37:g.98643199G>C	ENSP00000288985:p.Gly43Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G43A	ENST00000288985.7	37	c.128	CCDS35072.1	9	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576415	0.28092	.	.	ENSG00000182150	ENST00000288985	D	0.90563	-2.69	4.93	-1.98	0.07480	.	0.641780	0.12963	N	0.424852	T	0.79667	0.4485	N	0.19112	0.55	0.80722	D	1	B	0.23650	0.089	B	0.20577	0.03	T	0.63225	-0.6685	10	0.37606	T	0.19	-3.8282	7.0826	0.25239	0.3942:0.1333:0.4724:0.0	.	43	Q5T890	RAD26_HUMAN	A	43	ENSP00000288985:G43A	ENSP00000288985:G43A	G	+	2	0	C9orf102	97683020	0.982000	0.34865	0.992000	0.48379	0.836000	0.47400	1.198000	0.32223	-0.176000	0.10707	-0.229000	0.12294	GGA	ERCC6L2	-	NULL		0.363	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ERCC6L2	HGNC	protein_coding	OTTHUMT00000053247.2	G	NM_001010895		98643199	+1	no_errors	ENST00000288985	ensembl	human	novel	70_37	missense	SNP	0.988	C
ERCC8	1161	genome.wustl.edu	37	5	60186718	60186718	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:60186718G>A	ENST00000265038.5	-	10	1081	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*	ERCC8_ENST00000426742.2_Nonsense_Mutation_p.Q289*|ERCC8_ENST00000543101.1_Nonsense_Mutation_p.Q194*|ERCC8_ENST00000462279.1_5'UTR	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	347					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				ACTCTTACCTGGAAATTTGAC	0.338																																																	0													81.0	84.0	83.0					5																	60186718		2203	4300	6503	SO:0001587	stop_gained	1161			U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.1039C>T	5.37:g.60186718G>A	ENSP00000265038:p.Gln347*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB64|Q6FHX5|Q96GB9	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q347*	ENST00000265038.5	37	c.1039	CCDS3978.1	5	.	.	.	.	.	.	.	.	.	.	G	41	8.946765	0.99012	.	.	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000543101;ENST00000536596	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-7.434	19.7734	0.96382	0.0:0.0:1.0:0.0	.	.	.	.	X	289;347;194;346	.	ENSP00000265038:Q347X	Q	-	1	0	ERCC8	60222475	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.094000	0.94168	2.684000	0.91462	0.563000	0.77884	CAG	ERCC8	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.338	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC8	HGNC	protein_coding	OTTHUMT00000214971.2	G	NM_000082		60186718	-1	no_errors	ENST00000265038	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ERCC8	1161	genome.wustl.edu	37	5	60189042	60189042	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:60189042C>T	ENST00000265038.5	-	10	886				ERCC8_ENST00000426742.2_Intron|ERCC8_ENST00000543101.1_Intron|ERCC8_ENST00000462279.1_5'UTR	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TCTACCACCTCACGGACTCCT	0.483																																																	0																																										SO:0001627	intron_variant	1161			U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.844-2129G>A	5.37:g.60189042C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB64|Q6FHX5|Q96GB9	RNA	SNP	-	NULL	ENST00000265038.5	37	NULL	CCDS3978.1	5																																																																																			ERCC8	-	-		0.483	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC8	HGNC	protein_coding	OTTHUMT00000214971.2	C	NM_000082		60189042	-1	no_errors	ENST00000462279	ensembl	human	known	70_37	rna	SNP	0.983	T
ERCC8	1161	genome.wustl.edu	37	5	60240761	60240761	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:60240761C>T	ENST00000265038.5	-	1	117	c.75G>A	c.(73-75)cgG>cgA	p.R25R	ERCC8_ENST00000426742.2_5'UTR|NDUFAF2_ENST00000296597.5_5'Flank|ERCC8_ENST00000543101.1_5'UTR|NDUFAF2_ENST00000511107.1_5'Flank	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	25					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TTCTTTACCTCCGTGTTGACT	0.532																																																	0													110.0	101.0	104.0					5																	60240761		2203	4300	6503	SO:0001819	synonymous_variant	1161			U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.75G>A	5.37:g.60240761C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB64|Q6FHX5|Q96GB9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R25	ENST00000265038.5	37	c.75	CCDS3978.1	5	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639792	0.47153	.	.	ENSG00000049167	ENST00000536596	.	.	.	5.36	1.28	0.21552	.	.	.	.	.	T	0.43055	0.1230	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12041	-1.0563	5	0.23891	T	0.37	-0.1848	5.0285	0.14398	0.0:0.4836:0.3208:0.1956	.	.	.	.	K	39	.	ENSP00000442219:E39K	E	-	1	0	ERCC8	60276518	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	0.664000	0.25068	0.039000	0.15632	-0.176000	0.13171	GAG	ERCC8	-	NULL		0.532	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC8	HGNC	protein_coding	OTTHUMT00000214971.2	C	NM_000082		60240761	-1	no_errors	ENST00000265038	ensembl	human	known	70_37	silent	SNP	0.999	T
ERMN	57471	genome.wustl.edu	37	2	158182121	158182121	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:158182121C>G	ENST00000410096.1	-	1	325	c.34G>C	c.(34-36)Gag>Cag	p.E12Q	ERMN_ENST00000420719.2_Missense_Mutation_p.E12Q|ERMN_ENST00000535935.1_5'Flank|ERMN_ENST00000397283.2_Missense_Mutation_p.E25Q|ERMN_ENST00000409216.1_Missense_Mutation_p.E12Q|ERMN_ENST00000409925.1_Missense_Mutation_p.E12Q	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	12					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						CCATTACACTCAGCCTGGGTA	0.468																																																	0													191.0	173.0	179.0					2																	158182121		1902	4116	6018	SO:0001583	missense	57471			AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.34G>C	2.37:g.158182121C>G	ENSP00000387047:p.Glu12Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKA6|Q9ULN1	Missense_Mutation	SNP	superfamily_Moesin	p.E25Q	ENST00000410096.1	37	c.73	CCDS46431.1	2	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530142	0.45073	.	.	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000420719;ENST00000420317;ENST00000411762;ENST00000409216;ENST00000409925;ENST00000419116	T;T	0.60040	0.22;0.22	5.64	3.84	0.44239	.	0.179652	0.38837	N	0.001551	T	0.53061	0.1773	L	0.32530	0.975	0.21416	N	0.999692	P;P;P	0.51351	0.944;0.944;0.944	P;P;P	0.50617	0.646;0.646;0.646	T	0.46247	-0.9205	10	0.62326	D	0.03	-20.0912	8.9871	0.36001	0.0:0.7716:0.1484:0.0799	.	12;25;12	B4DIZ1;Q8TAM6-2;Q8TAM6	.;.;ERMIN_HUMAN	Q	12;25;12;12;12;12;12;12	ENSP00000387049:E12Q;ENSP00000387325:E12Q	ENSP00000380453:E25Q	E	-	1	0	ERMN	157890367	0.995000	0.38212	0.019000	0.16419	0.362000	0.29581	4.612000	0.61169	0.724000	0.32296	0.557000	0.71058	GAG	ERMN	-	NULL		0.468	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMN	HGNC	protein_coding	OTTHUMT00000332659.1	C	NM_001009959		158182121	-1	no_errors	ENST00000397283	ensembl	human	known	70_37	missense	SNP	0.061	G
ERN1	2081	genome.wustl.edu	37	17	62122227	62122227	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:62122227C>G	ENST00000433197.3	-	21	2809	c.2714G>C	c.(2713-2715)aGa>aCa	p.R905T		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TACCTTATTTCTCATGGCTCG	0.418																																																	0													49.0	54.0	52.0					17																	62122227		1892	4122	6014	SO:0001583	missense	2081			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2714G>C	17.37:g.62122227C>G	ENSP00000401445:p.Arg905Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_KEN_RNase_activator,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom	p.R905T	ENST00000433197.3	37	c.2714	CCDS45762.1	17	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473120	0.84640	.	.	ENSG00000178607	ENST00000433197	T	0.62639	0.01	5.22	5.22	0.72569	PUG domain (1);KEN domain, ribonuclease activator (2);	0.000000	0.85682	D	0.000000	D	0.86644	0.5982	H	0.96996	3.92	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.91313	0.5076	10	0.87932	D	0	-13.3654	18.7717	0.91894	0.0:1.0:0.0:0.0	.	905	O75460	ERN1_HUMAN	T	905	ENSP00000401445:R905T	ENSP00000401445:R905T	R	-	2	0	ERN1	59475959	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	7.745000	0.85046	2.440000	0.82611	0.561000	0.74099	AGA	ERN1	-	pfam_KEN_RNase_activator,smart_PUG-dom		0.418	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN1	HGNC	protein_coding	OTTHUMT00000443734.2	C	NM_001433		62122227	-1	no_errors	ENST00000433197	ensembl	human	known	70_37	missense	SNP	1.000	G
ERVK13-1	100507321	genome.wustl.edu	37	16	2712361	2712361	+	RNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2712361G>A	ENST00000568395.1	-	0	4366					NR_040023.1		Q9NX77	ENK13_HUMAN	endogenous retrovirus group K13, member 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)	structural molecule activity (GO:0005198)										aaaaagggatgaataattttt	0.433																																																	0													82.0	66.0	71.0					16																	2712361		692	1591	2283			100507321					16p13.3	2011-12-16				ENSG00000260565			27548	other	endogenous retrovirus	"""HERV-K_16p3.3 provirus ancestral Env polyprotein"""						Standard	NR_040023		Approved		uc010bss.2	Q9NX77			16.37:g.2712361G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9G3	RNA	SNP	-	NULL	ENST00000568395.1	37	NULL		16																																																																																			ERVK13-1	-	-		0.433	ERVK13-1-001	KNOWN	basic	lincRNA	ERVK13-1	HGNC	processed_transcript	OTTHUMT00000431428.1	G	NR_040023		2712361	-1	no_errors	ENST00000568395	ensembl	human	known	70_37	rna	SNP	0.215	A
ESPL1	9700	genome.wustl.edu	37	12	53663682	53663682	+	Missense_Mutation	SNP	C	C	T	rs566763422		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:53663682C>T	ENST00000257934.4	+	3	1047	c.956C>T	c.(955-957)tCa>tTa	p.S319L	ESPL1_ENST00000552462.1_Missense_Mutation_p.S319L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	319					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATCAAGGCATCAGCTGTCCTG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		19942	0.0		0.0	False		,,,				2504	0.001				Colon(53;1069 1201 2587 5382)												0													91.0	81.0	84.0					12																	53663682		2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.956C>T	12.37:g.53663682C>T	ENSP00000257934:p.Ser319Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_C50	p.S319L	ENST00000257934.4	37	c.956	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598719	0.28445	.	.	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.11930	2.73;2.73	5.29	1.28	0.21552	.	0.917272	0.09400	N	0.807351	T	0.11750	0.0286	L	0.51422	1.61	0.09310	N	1	B	0.20887	0.049	B	0.19666	0.026	T	0.37056	-0.9722	9	.	.	.	.	3.9638	0.09423	0.1565:0.5066:0.0:0.3369	.	319	Q14674	ESPL1_HUMAN	L	319	ENSP00000257934:S319L;ENSP00000449831:S319L	.	S	+	2	0	ESPL1	51949949	0.003000	0.15002	0.519000	0.27824	0.781000	0.44180	0.918000	0.28678	0.387000	0.25024	-0.258000	0.10820	TCA	ESPL1	-	NULL		0.562	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	C	NM_012291		53663682	+1	no_errors	ENST00000257934	ensembl	human	known	70_37	missense	SNP	0.026	T
ESPL1	9700	genome.wustl.edu	37	12	53680360	53680360	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:53680360C>T	ENST00000257934.4	+	18	3931	c.3840C>T	c.(3838-3840)ctC>ctT	p.L1280L	ESPL1_ENST00000552462.1_Silent_p.L1280L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1280					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TAGGTGGCCTCAGCTGCTGTA	0.547																																					Colon(53;1069 1201 2587 5382)												0													69.0	73.0	72.0					12																	53680360		2203	4300	6503	SO:0001819	synonymous_variant	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3840C>T	12.37:g.53680360C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Peptidase_C50	p.L1280	ENST00000257934.4	37	c.3840	CCDS8852.1	12																																																																																			ESPL1	-	NULL		0.547	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	C	NM_012291		53680360	+1	no_errors	ENST00000257934	ensembl	human	known	70_37	silent	SNP	0.941	T
ESPN	83715	genome.wustl.edu	37	1	6511968	6511968	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:6511968C>T	ENST00000377828.1	+	10	2305	c.2137C>T	c.(2137-2139)Cag>Tag	p.Q713*	ESPN_ENST00000416731.1_Nonsense_Mutation_p.Q147*|ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000461727.1_Nonsense_Mutation_p.Q147*	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	713	Pro-rich.				locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGCGGGGTTTCAGCCGCTGCT	0.662																																																	0													18.0	20.0	19.0					1																	6511968		2202	4299	6501	SO:0001587	stop_gained	83715			AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2137C>T	1.37:g.6511968C>T	ENSP00000367059:p.Gln713*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6XYB2|Q9H0A2|Q9Y329	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom	p.Q713*	ENST00000377828.1	37	c.2137	CCDS70.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.32|14.32	2.498915|2.498915	0.44455|0.44455	.|.	.|.	ENSG00000187017|ENSG00000187017	ENST00000377828;ENST00000416731|ENST00000434576	.|.	.|.	.|.	5.14|5.14	4.22|4.22	0.49857|0.49857	.|.	0.455646|.	0.24818|.	N|.	0.035349|.	.|T	.|0.51329	.|0.1668	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60944	.|-0.7162	.|3	0.13853|.	T|.	0.58|.	-17.191|-17.191	8.8947|8.8947	0.35455|0.35455	0.1683:0.6692:0.1625:0.0|0.1683:0.6692:0.1625:0.0	.|.	.|.	.|.	.|.	X|L	713;147|56	.|.	ENSP00000367059:Q713X|.	Q|S	+|+	1|2	0|0	ESPN|ESPN	6434555|6434555	0.500000|0.500000	0.26091|0.26091	0.936000|0.936000	0.37596|0.37596	0.136000|0.136000	0.21042|0.21042	3.158000|3.158000	0.50723|0.50723	1.157000|1.157000	0.42530|0.42530	0.491000|0.491000	0.48974|0.48974	CAG|TCA	ESPN	-	NULL		0.662	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPN	HGNC	protein_coding	OTTHUMT00000001887.3	C	NM_031475		6511968	+1	no_errors	ENST00000377828	ensembl	human	known	70_37	nonsense	SNP	0.994	T
ESRP1	54845	genome.wustl.edu	37	8	95674553	95674553	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:95674553G>C	ENST00000433389.2	+	5	734	c.544G>C	c.(544-546)Gaa>Caa	p.E182Q	ESRP1_ENST00000423620.2_Missense_Mutation_p.E182Q|ESRP1_ENST00000454170.2_Missense_Mutation_p.E182Q|ESRP1_ENST00000358397.5_Missense_Mutation_p.E182Q	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	182					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CTCTCAAGTTGAAGATATGGG	0.323																																																	0													91.0	87.0	88.0					8																	95674553		1806	4070	5876	SO:0001583	missense	54845			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.544G>C	8.37:g.95674553G>C	ENSP00000405738:p.Glu182Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom	p.E182Q	ENST00000433389.2	37	c.544	CCDS47897.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.52|11.52	1.663616|1.663616	0.29515|0.29515	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000520385;ENST00000517610|ENST00000519505	T;T;T;T;T|.	0.44083|.	0.93;0.93;0.93;0.93;2.83|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Ribonuclease H-like (1);|.	0.091444|.	0.85682|.	D|.	0.000000|.	T|.	0.28962|.	0.0719|.	N|N	0.00879|0.00879	-1.12|-1.12	0.42316|0.42316	D|D	0.992236|0.992236	B;B;B;B;B;B|.	0.15473|.	0.013;0.001;0.001;0.002;0.004;0.0|.	B;B;B;B;B;B|.	0.19148|.	0.024;0.007;0.004;0.003;0.007;0.003|.	T|.	0.38001|.	-0.9681|.	10|.	0.23302|.	T|.	0.38|.	-20.1399|-20.1399	19.961|19.961	0.97250|0.97250	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	182;182;182;182;182;182|.	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1|.	.;.;.;.;.;ESRP1_HUMAN|.	Q|S	182;182;182;182;22;41|47	ENSP00000407349:E182Q;ENSP00000405738:E182Q;ENSP00000351168:E182Q;ENSP00000402766:E182Q;ENSP00000429125:E41Q|.	ENSP00000351168:E182Q|.	E|X	+|+	1|2	0|2	ESRP1|ESRP1	95743729|95743729	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.900000|3.900000	0.56295|0.56295	2.783000|2.783000	0.95769|0.95769	0.655000|0.655000	0.94253|0.94253	GAA|TGA	ESRP1	-	superfamily_RNaseH-like_dom		0.323	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ESRP1	HGNC	protein_coding	OTTHUMT00000379326.1	G	NM_017697		95674553	+1	no_errors	ENST00000433389	ensembl	human	known	70_37	missense	SNP	1.000	C
EVI5	7813	genome.wustl.edu	37	1	93091306	93091306	+	Intron	SNP	G	G	A	rs201552619		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:93091306G>A	ENST00000370331.1	-	13	1630				EVI5_ENST00000491940.1_Intron|EVI5_ENST00000543509.1_Intron|EVI5_ENST00000540033.1_Intron	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5						cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TGGATATTTCGGTTTTACTCT	0.323																																																	0													68.0	72.0	71.0					1																	93091306		2202	4299	6501	SO:0001627	intron_variant	7813			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1620+44C>T	1.37:g.93091306G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKX8|B9A6J0|Q9H1Y9	RNA	SNP	-	NULL	ENST00000370331.1	37	NULL	CCDS30774.1	1																																																																																			EVI5	-	-		0.323	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVI5	HGNC	protein_coding	OTTHUMT00000030047.1	G	NM_005665		93091306	-1	no_errors	ENST00000492613	ensembl	human	known	70_37	rna	SNP	0.001	A
EVPLL	645027	genome.wustl.edu	37	17	18286482	18286482	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:18286482G>A	ENST00000399134.4	+	7	1013	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	219										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCCTGCGGGCGTGCGGCGGGA	0.741																																																	0													4.0	8.0	7.0					17																	18286482		626	1501	2127	SO:0001583	missense	645027				CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.655G>A	17.37:g.18286482G>A	ENSP00000382086:p.Val219Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPD4	Missense_Mutation	SNP	NULL	p.V219M	ENST00000399134.4	37	c.655	CCDS45626.1	17	.	.	.	.	.	.	.	.	.	.	.	11.49	1.654128	0.29425	.	.	ENSG00000214860	ENST00000399134	T	0.32023	1.47	0.505	0.505	0.16953	.	.	.	.	.	T	0.41465	0.1160	M	0.63843	1.955	0.22926	N	0.998558	D	0.76494	0.999	D	0.63033	0.91	T	0.18967	-1.0320	9	0.48119	T	0.1	.	3.0181	0.06066	0.3785:0.0:0.6215:0.0	.	219	A8MZ36	EVPLL_HUMAN	M	219	ENSP00000382086:V219M	ENSP00000382086:V219M	V	+	1	0	EVPLL	18227207	0.104000	0.21937	0.992000	0.48379	0.245000	0.25701	0.114000	0.15520	0.554000	0.29061	0.089000	0.15464	GTG	EVPLL	-	NULL		0.741	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EVPLL	HGNC	protein_coding	OTTHUMT00000130836.2	G	NM_001145127		18286482	+1	no_errors	ENST00000399134	ensembl	human	novel	70_37	missense	SNP	0.984	A
EWSR1	2130	genome.wustl.edu	37	22	29695785	29695785	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:29695785G>C	ENST00000397938.2	+	16	2194	c.1875G>C	c.(1873-1875)ttG>ttC	p.L625F	EWSR1_ENST00000332050.6_Missense_Mutation_p.L552F|EWSR1_ENST00000332035.6_Missense_Mutation_p.L569F|EWSR1_ENST00000414183.2_Missense_Mutation_p.L630F|EWSR1_ENST00000406548.1_Missense_Mutation_p.L624F|EWSR1_ENST00000331029.7_Missense_Mutation_p.L587F	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	625	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGGACCTTTGATGGAACAGA	0.602			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																			Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"""L, M"""	0													27.0	30.0	29.0					22																	29695785		2203	4300	6503	SO:0001583	missense	2130				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1875G>C	22.37:g.29695785G>C	ENSP00000381031:p.Leu625Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.L630F	ENST00000397938.2	37	c.1890	CCDS13851.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.37|14.37	2.515078|2.515078	0.44763|0.44763	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000360091|ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035	.|D;D;D;D;D;D	.|0.96554	.|-3.96;-3.45;-3.59;-4.05;-3.59;-3.43	5.18|5.18	0.122|0.122	0.14702|0.14702	.|.	.|0.000000	.|0.40302	.|U	.|0.001123	D|D	0.90844|0.90844	0.7124|0.7124	L|L	0.36672|0.36672	1.1|1.1	0.31842|0.31842	N|N	0.623361|0.623361	.|B;B;B;B;B	.|0.29862	.|0.259;0.259;0.259;0.259;0.259	.|B;B;B;B;B	.|0.29440	.|0.043;0.102;0.071;0.102;0.102	D|D	0.86112|0.86112	0.1563|0.1563	5|10	.|0.56958	.|D	.|0.05	.|.	4.3234|4.3234	0.11029|0.11029	0.2008:0.1723:0.5334:0.0935|0.2008:0.1723:0.5334:0.0935	.|.	.|569;624;569;630;625	.|Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844	.|.;.;.;.;EWS_HUMAN	H|F	277|552;625;624;587;630;569	.|ENSP00000330896:L552F;ENSP00000381031:L625F;ENSP00000385726:L624F;ENSP00000330516:L587F;ENSP00000400142:L630F;ENSP00000331699:L569F	.|ENSP00000330516:L587F	D|L	+|+	1|3	0|2	EWSR1|EWSR1	28025785|28025785	0.645000|0.645000	0.27286|0.27286	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	-0.373000|-0.373000	0.07494|0.07494	0.192000|0.192000	0.20272|0.20272	0.563000|0.563000	0.77884|0.77884	GAT|TTG	EWSR1	-	NULL		0.602	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EWSR1	HGNC	protein_coding	OTTHUMT00000321345.1	G	NM_005243		29695785	+1	no_errors	ENST00000414183	ensembl	human	known	70_37	missense	SNP	0.964	C
EXOC4	60412	genome.wustl.edu	37	7	132959806	132959806	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:132959806G>A	ENST00000253861.4	+	2	185	c.156G>A	c.(154-156)gaG>gaA	p.E52E	EXOC4_ENST00000539845.1_5'UTR|EXOC4_ENST00000393161.2_Silent_p.E52E	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	52					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AAGCCTACGAGAAATGTGACC	0.468																																																	0													137.0	123.0	128.0					7																	132959806		2203	4300	6503	SO:0001819	synonymous_variant	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.156G>A	7.37:g.132959806G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Silent	SNP	pfam_Sec8_exocyst	p.E52	ENST00000253861.4	37	c.156	CCDS5829.1	7																																																																																			EXOC4	-	pfam_Sec8_exocyst		0.468	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	G	NM_021807		132959806	+1	no_errors	ENST00000253861	ensembl	human	known	70_37	silent	SNP	1.000	A
EXOC6	54536	genome.wustl.edu	37	10	94733981	94733981	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:94733981C>G	ENST00000260762.6	+	18	1959	c.1945C>G	c.(1945-1947)Cat>Gat	p.H649D	EXOC6_ENST00000371547.4_Missense_Mutation_p.H665D|EXOC6_ENST00000443748.2_Missense_Mutation_p.H546D|EXOC6_ENST00000371552.4_Missense_Mutation_p.H644D	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	649					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AGTGTTTACTCATTTGCCTGT	0.303																																																	0													52.0	52.0	52.0					10																	94733981		2203	4300	6503	SO:0001583	missense	54536			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.1945C>G	10.37:g.94733981C>G	ENSP00000260762:p.His649Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.H665D	ENST00000260762.6	37	c.1993	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393818	0.42410	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.37	5.37	0.77165	.	0.048961	0.85682	D	0.000000	T	0.40719	0.1128	M	0.70595	2.14	0.58432	D	0.999996	B;P;B;B;B;B	0.43169	0.399;0.8;0.436;0.302;0.436;0.436	B;P;B;B;B;B	0.45232	0.104;0.474;0.315;0.41;0.232;0.232	T	0.36601	-0.9741	10	0.59425	D	0.04	-17.6248	14.0003	0.64429	0.1514:0.8486:0.0:0.0	.	665;546;641;602;649;644	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	D	665;644;546;649	ENSP00000360602:H665D;ENSP00000360607:H644D;ENSP00000396206:H546D;ENSP00000260762:H649D	ENSP00000260762:H649D	H	+	1	0	EXOC6	94723961	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.762000	0.62250	2.483000	0.83821	0.655000	0.94253	CAT	EXOC6	-	pfam_Sec15,pirsf_Sec15		0.303	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	C	NM_019053		94733981	+1	no_errors	ENST00000371547	ensembl	human	known	70_37	missense	SNP	1.000	G
EXOSC10	5394	genome.wustl.edu	37	1	11140942	11140942	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:11140942C>G	ENST00000376936.4	-	12	1514	c.1465G>C	c.(1465-1467)Gag>Cag	p.E489Q	EXOSC10_ENST00000485606.1_5'UTR|EXOSC10_ENST00000544779.1_Missense_Mutation_p.E489Q|EXOSC10_ENST00000304457.7_Missense_Mutation_p.E489Q	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	489					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		AGGTAGGACTCATCCGTGAAG	0.433																																					Colon(179;105 1987 14326 27364 29542)												0													138.0	143.0	141.0					1																	11140942		2203	4300	6503	SO:0001583	missense	5394			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1465G>C	1.37:g.11140942C>G	ENSP00000366135:p.Glu489Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C	p.E489Q	ENST00000376936.4	37	c.1465	CCDS30584.1	1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382212	0.61845	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	5.74	5.74	0.90152	HRDC-like (1);	0.257794	0.45867	D	0.000326	T	0.71426	0.3338	M	0.71036	2.16	0.80722	D	1	B;B	0.26602	0.078;0.154	B;B	0.34093	0.175;0.085	T	0.67810	-0.5574	9	0.44086	T	0.13	-36.9989	19.2859	0.94069	0.0:1.0:0.0:0.0	.	489;489	Q01780-2;Q01780	.;EXOSX_HUMAN	Q	489	.	ENSP00000307307:E489Q	E	-	1	0	EXOSC10	11063529	1.000000	0.71417	0.988000	0.46212	0.603000	0.37013	6.044000	0.71012	2.873000	0.98535	0.563000	0.77884	GAG	EXOSC10	-	superfamily_HRDC-like		0.433	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOSC10	HGNC	protein_coding	OTTHUMT00000006078.1	C	NM_001001998		11140942	-1	no_errors	ENST00000376936	ensembl	human	known	70_37	missense	SNP	1.000	G
EXOSC10	5394	genome.wustl.edu	37	1	11141160	11141160	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:11141160C>G	ENST00000376936.4	-	11	1465	c.1416G>C	c.(1414-1416)cgG>cgC	p.R472R	EXOSC10_ENST00000485606.1_5'UTR|EXOSC10_ENST00000544779.1_Silent_p.R472R|EXOSC10_ENST00000304457.7_Silent_p.R472R	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	472					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TGTCCCTGCTCCGTTGCCACA	0.567																																					Colon(179;105 1987 14326 27364 29542)												0													51.0	45.0	47.0					1																	11141160		2203	4300	6503	SO:0001819	synonymous_variant	5394			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1416G>C	1.37:g.11141160C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKQ0|B1AKQ1|Q15158	Silent	SNP	pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C	p.R472	ENST00000376936.4	37	c.1416	CCDS30584.1	1																																																																																			EXOSC10	-	superfamily_RNaseH-like_dom		0.567	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOSC10	HGNC	protein_coding	OTTHUMT00000006078.1	C	NM_001001998		11141160	-1	no_errors	ENST00000376936	ensembl	human	known	70_37	silent	SNP	0.979	G
EYS	346007	genome.wustl.edu	37	6	65301604	65301604	+	Missense_Mutation	SNP	C	C	G	rs376632836		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:65301604C>G	ENST00000370621.3	-	26	4682	c.4156G>C	c.(4156-4158)Gat>Cat	p.D1386H	EYS_ENST00000370616.2_Missense_Mutation_p.D1386H|EYS_ENST00000503581.1_Missense_Mutation_p.D1386H			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1386					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GCTCTCCTATCAGGAAAAAAG	0.383																																																	0													68.0	69.0	68.0					6																	65301604		692	1591	2283	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4156G>C	6.37:g.65301604C>G	ENSP00000359655:p.Asp1386His	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.D1386H	ENST00000370621.3	37	c.4156		6	.	.	.	.	.	.	.	.	.	.	C	3.971	-0.008324	0.07727	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.85171	-1.95;-1.93;-1.93	4.59	-3.58	0.04597	.	.	.	.	.	T	0.63674	0.2531	N	0.14661	0.345	0.09310	N	1	D;P	0.55385	0.971;0.838	P;B	0.51170	0.661;0.358	T	0.61603	-0.7029	9	0.56958	D	0.05	.	8.5477	0.33433	0.0:0.2548:0.1182:0.627	.	1386;1386	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	H	1386	ENSP00000424243:D1386H;ENSP00000359655:D1386H;ENSP00000359650:D1386H	ENSP00000359650:D1386H	D	-	1	0	EYS	65358325	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.789000	0.04609	-0.984000	0.03507	-0.469000	0.05056	GAT	EYS	-	NULL		0.383	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	C	XM_294050		65301604	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	0.000	G
EZH1	2145	genome.wustl.edu	37	17	40857136	40857136	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:40857136C>G	ENST00000428826.2	-	17	2026	c.1905G>C	c.(1903-1905)aaG>aaC	p.K635N	EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000415827.2_Missense_Mutation_p.K626N|EZH1_ENST00000590078.1_Missense_Mutation_p.K565N|EZH1_ENST00000585893.1_Missense_Mutation_p.K595N|EZH1_ENST00000592743.1_Missense_Mutation_p.K635N|EZH1_ENST00000435174.1_Missense_Mutation_p.K496N			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	635	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TGAATTCGTTCTTCTGCACAG	0.527																																																	0													96.0	90.0	92.0					17																	40857136		2203	4300	6503	SO:0001583	missense	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1905G>C	17.37:g.40857136C>G	ENSP00000404658:p.Lys635Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.K635N	ENST00000428826.2	37	c.1905	CCDS32659.1	17	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399108	0.83120	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.84223	-1.82;-1.82	5.41	3.43	0.39272	SET domain (3);	0.088607	0.85682	D	0.000000	D	0.93077	0.7796	M	0.91818	3.245	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.992;0.997;0.997;0.997;0.997	D	0.93486	0.6831	10	0.87932	D	0	.	11.9212	0.52793	0.0:0.8598:0.0:0.1402	.	496;595;641;565;635	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	N	638;635;595;496	ENSP00000404658:K635N;ENSP00000404071:K496N	ENSP00000264646:K638N	K	-	3	2	EZH1	38110662	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.247000	0.51422	0.844000	0.35094	0.563000	0.77884	AAG	EZH1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.527	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EZH1	HGNC	protein_coding	OTTHUMT00000452347.1	C	NM_001991		40857136	-1	no_errors	ENST00000428826	ensembl	human	known	70_37	missense	SNP	1.000	G
F8	2157	genome.wustl.edu	37	X	154159334	154159334	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:154159334C>G	ENST00000360256.4	-	14	2931	c.2731G>C	c.(2731-2733)Gac>Cac	p.D911H		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	911	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCCAAATTGTCTGATGGAATT	0.358																																																	0													57.0	54.0	55.0					X																	154159334		2203	4300	6503	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2731G>C	X.37:g.154159334C>G	ENSP00000353393:p.Asp911His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.D911H	ENST00000360256.4	37	c.2731	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	C	8.650	0.898040	0.17686	.	.	ENSG00000185010	ENST00000360256	D	0.99282	-5.68	5.19	2.25	0.28309	.	0.822733	0.11627	N	0.545138	D	0.98654	0.9549	M	0.69823	2.125	0.09310	N	0.999999	D	0.62365	0.991	P	0.54401	0.751	D	0.95654	0.8709	10	0.72032	D	0.01	-2.6917	4.3306	0.11062	0.0:0.6011:0.185:0.2139	.	911	P00451	FA8_HUMAN	H	911	ENSP00000353393:D911H	ENSP00000353393:D911H	D	-	1	0	F8	153812528	0.303000	0.24463	0.052000	0.19188	0.014000	0.08584	0.601000	0.24119	0.512000	0.28257	0.544000	0.68410	GAC	F8	-	NULL		0.358	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	C			154159334	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	missense	SNP	0.078	G
FAHD1	81889	genome.wustl.edu	37	16	1877400	1877400	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:1877400C>T	ENST00000427358.2	+	1	176	c.170C>T	c.(169-171)tCg>tTg	p.S57L	FAHD1_ENST00000382666.4_Missense_Mutation_p.S57L|HAGH_ENST00000397356.3_5'Flank|HAGH_ENST00000566709.1_5'Flank|FAHD1_ENST00000382668.4_Missense_Mutation_p.S57L|HAGH_ENST00000455446.2_5'Flank|HAGH_ENST00000397353.2_5'Flank	NM_031208.3	NP_112485.1	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing 1	57						cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetylpyruvate hydrolase activity (GO:0018773)|acylpyruvate hydrolase activity (GO:0047621)|fumarylpyruvate hydrolase activity (GO:0034545)|metal ion binding (GO:0046872)			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						CCCGAGGGCTCGCCCATCCTC	0.701																																																	0													38.0	34.0	36.0					16																	1877400		2199	4298	6497	SO:0001583	missense	81889			BC063017	CCDS10448.1, CCDS32367.1, CCDS45380.1	16p13.3	2011-10-21	2004-08-19	2004-08-26	ENSG00000180185	ENSG00000180185			14169	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 36"""	C16orf36		21878618	Standard	NM_001018104		Approved	DKFZP566J2046	uc002cnd.3	Q6P587	OTTHUMG00000128663	ENST00000427358.2:c.170C>T	16.37:g.1877400C>T	ENSP00000398053:p.Ser57Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AK40|B1AK41|Q6FIC7|Q96RY1|Q9H0N6	Missense_Mutation	SNP	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.S57L	ENST00000427358.2	37	c.170	CCDS10448.1	16	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934391	0.73442	.	.	ENSG00000180185	ENST00000382668;ENST00000382666;ENST00000427358	T;T;T	0.45668	0.89;0.89;0.89	4.71	4.71	0.59529	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.300667	0.32640	N	0.005825	T	0.41442	0.1159	L	0.57536	1.79	0.52501	D	0.999954	B;B;B	0.30439	0.143;0.279;0.167	B;B;B	0.25884	0.014;0.064;0.025	T	0.44590	-0.9318	10	0.59425	D	0.04	.	16.8095	0.85715	0.0:1.0:0.0:0.0	.	57;57;57	Q6P587-2;B1AK40;Q6P587	.;.;FAHD1_HUMAN	L	57	ENSP00000372114:S57L;ENSP00000372112:S57L;ENSP00000398053:S57L	ENSP00000372112:S57L	S	+	2	0	FAHD1	1817401	0.012000	0.17670	0.978000	0.43139	0.978000	0.69477	2.417000	0.44653	2.458000	0.83093	0.655000	0.94253	TCG	FAHD1	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel		0.701	FAHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAHD1	HGNC	protein_coding	OTTHUMT00000250550.2	C	NM_001018104		1877400	+1	no_errors	ENST00000382666	ensembl	human	known	70_37	missense	SNP	1.000	T
FAIM	55179	genome.wustl.edu	37	3	138329875	138329875	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:138329875C>G	ENST00000393035.2	+	1	87				FAIM_ENST00000393034.2_Intron|FAIM_ENST00000338446.4_Missense_Mutation_p.L26V|FAIM_ENST00000360570.3_Intron	NM_001033032.1	NP_001028204.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)	cytoplasm (GO:0005737)				kidney(1)|upper_aerodigestive_tract(1)	2						CTCTGCCACTCTGAGGTTagt	0.428																																																	0													180.0	174.0	176.0					3																	138329875		2203	4300	6503	SO:0001627	intron_variant	55179			AK001444	CCDS3103.1, CCDS33864.1, CCDS33865.1	3q23	2008-07-18			ENSG00000158234	ENSG00000158234			18703	protein-coding gene	gene with protein product						10075978	Standard	NM_018147		Approved	FLJ10582, FAIM1	uc003esq.3	Q9NVQ4	OTTHUMG00000159885	ENST00000393035.2:c.-23+2096C>G	3.37:g.138329875C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IAN2	Missense_Mutation	SNP	pfam_FAIM	p.L26V	ENST00000393035.2	37	c.76	CCDS3103.1	3	.	.	.	.	.	.	.	.	.	.	C	6.600	0.479008	0.12581	.	.	ENSG00000158234	ENST00000338446	T	0.33654	1.4	2.25	0.395	0.16304	.	12.555400	0.00597	U	0.000379	T	0.23171	0.0560	.	.	.	0.09310	N	1	B	0.24368	0.102	B	0.17979	0.02	T	0.10086	-1.0645	9	0.27785	T	0.31	0.2049	4.2556	0.10715	0.0:0.6397:0.0:0.3603	.	26	Q9NVQ4-2	.	V	26	ENSP00000342805:L26V	ENSP00000342805:L26V	L	+	1	2	FAIM	139812565	0.003000	0.15002	0.010000	0.14722	0.269000	0.26545	-0.604000	0.05667	0.091000	0.17302	0.298000	0.19748	CTG	FAIM	-	NULL		0.428	FAIM-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAIM	HGNC	protein_coding	OTTHUMT00000357979.1	C	NM_001033032		138329875	+1	no_errors	ENST00000338446	ensembl	human	known	70_37	missense	SNP	0.012	G
FAIM2	23017	genome.wustl.edu	37	12	50264376	50264376	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:50264376C>T	ENST00000320634.3	-	12	956	c.862G>A	c.(862-864)Gag>Aag	p.E288K	FAIM2_ENST00000550890.1_Missense_Mutation_p.E242K	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2	288					apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						AAAATATACTCCTCAGGGCTC	0.522																																																	0													92.0	81.0	85.0					12																	50264376		2203	4300	6503	SO:0001583	missense	23017			AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 2"""	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000320634.3:c.862G>A	12.37:g.50264376C>T	ENSP00000321951:p.Glu288Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Missense_Mutation	SNP	pfam_Bax_inhibitor_1-related	p.E288K	ENST00000320634.3	37	c.862	CCDS8791.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.316177|5.316177	0.95655|0.95655	.|.	.|.	ENSG00000135472|ENSG00000135472	ENST00000320634;ENST00000550890;ENST00000550635;ENST00000552669|ENST00000552863	T;T;T|.	0.48201|.	0.82;0.82;0.82|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87676|0.87676	0.6237|0.6237	H|H	0.97186|0.97186	3.955|3.955	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.91868|0.91868	0.5505|0.5505	10|5	0.87932|.	D|.	0|.	-15.3519|-15.3519	15.5214|15.5214	0.75869|0.75869	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	288|.	Q9BWQ8|.	FAIM2_HUMAN|.	K|E	288;242;288;246|138	ENSP00000321951:E288K;ENSP00000450132:E242K;ENSP00000446771:E246K|.	ENSP00000321951:E288K|.	E|G	-|-	1|2	0|0	FAIM2|FAIM2	48550643|48550643	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.783000|7.783000	0.85696|0.85696	2.266000|2.266000	0.75297|0.75297	0.563000|0.563000	0.77884|0.77884	GAG|GGA	FAIM2	-	pfam_Bax_inhibitor_1-related		0.522	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAIM2	HGNC	protein_coding	OTTHUMT00000405984.1	C	NM_012306		50264376	-1	no_errors	ENST00000320634	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM107A	11170	genome.wustl.edu	37	3	58612841	58612841	+	5'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:58612841C>G	ENST00000497310.1	-	0	306				RP11-475O23.3_ENST00000464125.1_RNA|FAM107A_ENST00000474531.1_5'UTR			O95990	F107A_HUMAN	family with sequence similarity 107, member A						regulation of cell growth (GO:0001558)	neuron projection (GO:0043005)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		CCCCTGTCCTCTTGCGGCTCA	0.677																																																	0																																										SO:0001623	5_prime_UTR_variant	11170			AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309			30827	protein-coding gene	gene with protein product		608295				10564580, 10702698	Standard	XM_005264835		Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000497310.1:c.-528G>C	3.37:g.58612841C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNQ4|B7ZAY5|J3KR61|Q96NH4	RNA	SNP	-	NULL	ENST00000497310.1	37	NULL		3																																																																																			FAM107A	-	-		0.677	FAM107A-008	PUTATIVE	basic|exp_conf	processed_transcript	FAM107A	HGNC	protein_coding	OTTHUMT00000353589.1	C	NM_007177		58612841	-1	no_errors	ENST00000497310	ensembl	human	putative	70_37	rna	SNP	0.014	G
FAM124A	220108	genome.wustl.edu	37	13	51826091	51826091	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:51826091G>C	ENST00000322475.8	+	3	723	c.588G>C	c.(586-588)agG>agC	p.R196S	FAM124A_ENST00000280057.6_Missense_Mutation_p.R232S	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	196										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		TTCTCCGGAGGAGCCCCAGCC	0.542																																																	0													50.0	51.0	50.0					13																	51826091		2203	4300	6503	SO:0001583	missense	220108			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.588G>C	13.37:g.51826091G>C	ENSP00000324625:p.Arg196Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	NULL	p.R232S	ENST00000322475.8	37	c.696	CCDS55900.1	13	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184466	0.38609	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.47528	0.84;0.84	5.79	-1.83	0.07833	.	0.111381	0.64402	D	0.000019	T	0.54935	0.1889	M	0.69823	2.125	0.24291	N	0.995164	D;D;P	0.76494	0.998;0.999;0.952	D;D;B	0.67382	0.923;0.951;0.385	T	0.49560	-0.8927	10	0.87932	D	0	-26.6447	2.7144	0.05183	0.2857:0.4137:0.1912:0.1094	.	196;232;196	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	S	196;232	ENSP00000324625:R196S;ENSP00000280057:R232S	ENSP00000280057:R232S	R	+	3	2	FAM124A	50724092	0.321000	0.24625	0.735000	0.30896	0.240000	0.25518	-0.146000	0.10250	-0.518000	0.06452	-0.176000	0.13171	AGG	FAM124A	-	NULL		0.542	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM124A	HGNC	protein_coding	OTTHUMT00000045019.3	G	NM_145019		51826091	+1	no_errors	ENST00000280057	ensembl	human	known	70_37	missense	SNP	0.134	C
FAM131C	348487	genome.wustl.edu	37	1	16384780	16384780	+	3'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16384780G>A	ENST00000375662.4	-	0	1178				FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C											large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCCACCATGAGCACTGGCC	0.667																																																	0																																										SO:0001624	3_prime_UTR_variant	348487				CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 117"""	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.*152C>T	1.37:g.16384780G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T5Q5|Q8N3X3|Q8N9P9	RNA	SNP	-	NULL	ENST00000375662.4	37	NULL	CCDS41270.1	1																																																																																			FAM131C	-	-		0.667	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM131C	HGNC	protein_coding	OTTHUMT00000026319.1	G	NM_182623		16384780	-1	no_errors	ENST00000494078	ensembl	human	known	70_37	rna	SNP	0.001	A
FAM138B	654412	genome.wustl.edu	37	2	114335700	114335700	+	lincRNA	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:114335700C>T	ENST00000432583.2	+	0	503									family with sequence similarity 138, member B																		ttaaacccttcaaagcctcat	0.423																																																	0																																												654412					2q13	2013-01-30			ENSG00000226516	ENSG00000226516		"""Long non-coding RNAs"""	33582	non-coding RNA	RNA, long non-coding						11779631, 15233989	Standard	NR_026821		Approved	F379	uc002tjz.3		OTTHUMG00000047820		2.37:g.114335700C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000432583.2	37	NULL		2																																																																																			FAM138B	-	-		0.423	FAM138B-002	KNOWN	basic	lincRNA	FAM138B	HGNC	lincRNA	OTTHUMT00000109027.3	C	NR_026821		114335700	+1	no_errors	ENST00000432583	ensembl	human	known	70_37	rna	SNP	0.089	T
FAM157B	100132403	genome.wustl.edu	37	9	141107619	141107619	+	lincRNA	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:141107619C>G	ENST00000446912.2	+	0	102							P0CG42	F157B_HUMAN	family with sequence similarity 157, member B																		CCTGTGGCCTCGCAAACAAAA	0.532																																																	0													3.0	5.0	5.0					9																	141107619		572	1424	1996			100132403					9q34	2013-01-24			ENSG00000233013	ENSG00000233013			34080	other	unknown							Standard	NM_001145249		Approved		uc011mfe.1	P0CG42	OTTHUMG00000021000		9.37:g.141107619C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000446912.2	37	NULL		9																																																																																			FAM157B	-	-		0.532	FAM157B-001	KNOWN	mRNA_end_NF|basic	lincRNA	FAM157B	HGNC	lincRNA	OTTHUMT00000055378.2	C	NM_001145249		141107619	+1	no_errors	ENST00000446912	ensembl	human	known	70_37	rna	SNP	0.017	G
FAM163A	148753	genome.wustl.edu	37	1	179782210	179782210	+	Splice_Site	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:179782210G>C	ENST00000341785.4	+	4	374		c.e4-1			NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A							integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						CATCTTTGCAGAGTTTGATGG	0.657																																																	0													67.0	56.0	60.0					1																	179782210		2024	3897	5921	SO:0001630	splice_region_variant	148753			BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"""chromosome 1 open reading frame 76"""	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.-22-1G>C	1.37:g.179782210G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8R7	Splice_Site	SNP	-	e1-1	ENST00000341785.4	37	c.1-1	CCDS1333.1	1																																																																																			FAM163A	-	-		0.657	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM163A	HGNC	protein_coding	OTTHUMT00000085300.1	G	NM_173509	Intron	179782210	+1	no_errors	ENST00000341785	ensembl	human	known	70_37	splice_site	SNP	1.000	C
FAM169B	283777	genome.wustl.edu	37	15	99023833	99023833	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:99023833C>T	ENST00000558256.1	-	4	429	c.180G>A	c.(178-180)atG>atA	p.M60I	FAM169B_ENST00000332908.4_Missense_Mutation_p.M60I	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	60								p.M60I(1)		large_intestine(3)|lung(3)|urinary_tract(1)	7						CCTCACCTTTCATCTTGGTTG	0.527																																																	1	Substitution - Missense(1)	lung(1)											88.0	89.0	88.0					15																	99023833		1951	4154	6105	SO:0001583	missense	283777				CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.180G>A	15.37:g.99023833C>T	ENSP00000453554:p.Met60Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDL8	Missense_Mutation	SNP	NULL	p.M60I	ENST00000558256.1	37	c.180	CCDS45360.1	15	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351706	0.24512	.	.	ENSG00000185087	ENST00000332908	T	0.30981	1.51	5.06	5.06	0.68205	.	1.297960	0.04830	N	0.438500	T	0.29256	0.0728	L	0.42245	1.32	0.27171	N	0.960917	P	0.34587	0.458	B	0.24394	0.053	T	0.21861	-1.0233	10	0.41790	T	0.15	-0.8801	12.8593	0.57903	0.0:0.836:0.164:0.0	.	60	Q8N8A8	F169B_HUMAN	I	60	ENSP00000332615:M60I	ENSP00000332615:M60I	M	-	3	0	FAM169B	96841356	0.925000	0.31364	0.932000	0.37286	0.876000	0.50452	1.774000	0.38573	2.336000	0.79503	0.655000	0.94253	ATG	FAM169B	-	NULL		0.527	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM169B	HGNC	protein_coding	OTTHUMT00000415488.1	C	NM_182562		99023833	-1	no_errors	ENST00000332908	ensembl	human	known	70_37	missense	SNP	0.939	T
FAM170A	340069	genome.wustl.edu	37	5	118968449	118968449	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:118968449C>T	ENST00000515256.1	+	2	249	c.77C>T	c.(76-78)tCa>tTa	p.S26L				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	26					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TCAGGAATGTCAAAGTCCCAA	0.478																																																	0													75.0	74.0	74.0					5																	118968449		1948	4135	6083	SO:0001583	missense	340069			AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.77C>T	5.37:g.118968449C>T	ENSP00000422684:p.Ser26Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	NULL	p.S26L	ENST00000515256.1	37	c.77		5	.	.	.	.	.	.	.	.	.	.	C	2.245	-0.372997	0.05034	.	.	ENSG00000164334	ENST00000515256;ENST00000509264	T;T	0.31247	1.5;1.5	4.28	-1.82	0.07857	.	0.598904	0.14147	N	0.338244	T	0.16385	0.0394	L	0.31294	0.92	0.09310	N	1	B;B	0.13594	0.004;0.008	B;B	0.17433	0.006;0.018	T	0.22452	-1.0216	9	.	.	.	10.3655	4.2862	0.10857	0.1587:0.3752:0.0:0.4661	.	26;26	A1A519;A2VCN0	F170A_HUMAN;.	L	26	ENSP00000422684:S26L;ENSP00000423697:S26L	.	S	+	2	0	FAM170A	118996348	0.114000	0.22134	0.000000	0.03702	0.012000	0.07955	-0.182000	0.09726	-0.388000	0.07797	-0.136000	0.14681	TCA	FAM170A	-	NULL		0.478	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	FAM170A	HGNC	protein_coding	OTTHUMT00000371126.1	C	NM_182761		118968449	+1	no_errors	ENST00000515256	ensembl	human	known	70_37	missense	SNP	0.000	T
FAM178A	55719	genome.wustl.edu	37	10	102684212	102684212	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:102684212C>G	ENST00000238961.4	+	5	1996	c.1454C>G	c.(1453-1455)tCt>tGt	p.S485C	FAM178A_ENST00000370271.3_Missense_Mutation_p.S485C|FAM178A_ENST00000370269.3_Missense_Mutation_p.S485C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	485						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											GCTGGTTCCTCTCTAGTACCA	0.398																																																	0													75.0	82.0	80.0					10																	102684212		2203	4300	6503	SO:0001583	missense	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1454C>G	10.37:g.102684212C>G	ENSP00000238961:p.Ser485Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	NULL	p.S485C	ENST00000238961.4	37	c.1454	CCDS7500.1	10	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379937	0.42207	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.62105	0.05;0.77;0.75	5.95	5.95	0.96441	.	0.000000	0.51477	D	0.000092	T	0.68760	0.3036	N	0.24115	0.695	0.37366	D	0.911433	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.997	T	0.74343	-0.3696	10	0.72032	D	0.01	-13.0187	15.8922	0.79309	0.0:1.0:0.0:0.0	.	134;485;485;485	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	C	485	ENSP00000359294:S485C;ENSP00000238961:S485C;ENSP00000359292:S485C	ENSP00000238961:S485C	S	+	2	0	FAM178A	102674202	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	4.320000	0.59203	2.822000	0.97130	0.650000	0.86243	TCT	FAM178A	-	NULL		0.398	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	HGNC	protein_coding	OTTHUMT00000049897.3	C			102684212	+1	no_errors	ENST00000370269	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM178A	55719	genome.wustl.edu	37	10	102685753	102685753	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:102685753G>A	ENST00000238961.4	+	6	2561	c.2019G>A	c.(2017-2019)gtG>gtA	p.V673V	FAM178A_ENST00000370271.3_Silent_p.V673V|FAM178A_ENST00000370269.3_Silent_p.V673V	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	673						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AACGTCTAGTGAAGGAAATGG	0.318																																																	0													116.0	115.0	116.0					10																	102685753		2203	4300	6503	SO:0001819	synonymous_variant	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.2019G>A	10.37:g.102685753G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	NULL	p.V673	ENST00000238961.4	37	c.2019	CCDS7500.1	10																																																																																			FAM178A	-	NULL		0.318	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	HGNC	protein_coding	OTTHUMT00000049897.3	G			102685753	+1	no_errors	ENST00000370269	ensembl	human	known	70_37	silent	SNP	1.000	A
FAM180B	399888	genome.wustl.edu	37	11	47609701	47609701	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:47609701C>T	ENST00000356737.2	+	3	390	c.390C>T	c.(388-390)caC>caT	p.H130H	FAM180B_ENST00000538490.1_Silent_p.H107H			Q6P0A1	F180B_HUMAN	family with sequence similarity 180, member B	130						integral component of membrane (GO:0016021)											TGCAGCACCACGTGCCCAGTG	0.622																																																	0													61.0	60.0	60.0					11																	47609701		692	1591	2283	SO:0001819	synonymous_variant	399888			BC065704		11p11.2	2008-07-21			ENSG00000196666	ENSG00000196666			34451	protein-coding gene	gene with protein product	"""hypothetical gene supported by BC065704"""					12477932	Standard	NM_001164379		Approved	LOC399888	uc001ngb.2	Q6P0A1		ENST00000356737.2:c.390C>T	11.37:g.47609701C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.H130	ENST00000356737.2	37	c.390		11																																																																																			FAM180B	-	NULL		0.622	FAM180B-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM180B	HGNC	protein_coding		C	XM_941808		47609701	+1	no_errors	ENST00000356737	ensembl	human	known	70_37	silent	SNP	0.001	T
FAM184A	79632	genome.wustl.edu	37	6	119285899	119285899	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:119285899C>T	ENST00000338891.7	-	16	3514	c.3071G>A	c.(3070-3072)cGa>cAa	p.R1024Q	FAM184A_ENST00000352896.5_Missense_Mutation_p.R855Q|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000521531.1_Intron	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1024						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GTTAGTTTCTCGATTGACTAA	0.294																																																	0													105.0	95.0	98.0					6																	119285899		1820	4071	5891	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.3071G>A	6.37:g.119285899C>T	ENSP00000342604:p.Arg1024Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	superfamily_Prefoldin	p.R1024Q	ENST00000338891.7	37	c.3071	CCDS43499.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.549273|5.549273	0.96488|0.96488	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000481884|ENST00000338891;ENST00000352896;ENST00000368472	.|T;T;T	.|0.41758	.|1.92;1.91;0.99	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62307|0.62307	0.2417|0.2417	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.85130	.|0.997;0.993	T|T	0.64339|0.64339	-0.6431|-0.6431	5|10	.|0.72032	.|D	.|0.01	-10.4272|-10.4272	19.9925|19.9925	0.97371|0.97371	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|855;1024	.|F8W8D6;Q8NB25	.|.;F184A_HUMAN	K|Q	3|1024;855;85	.|ENSP00000342604:R1024Q;ENSP00000326608:R855Q;ENSP00000357457:R85Q	.|ENSP00000342604:R1024Q	E|R	-|-	1|2	0|0	FAM184A|FAM184A	119327598|119327598	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	GAG|CGA	FAM184A	-	NULL		0.294	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	C	NM_024581		119285899	-1	no_errors	ENST00000338891	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM189A2	9413	genome.wustl.edu	37	9	72006623	72006623	+	Missense_Mutation	SNP	C	C	G	rs376020765		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:72006623C>G	ENST00000257515.8	+	11	1676	c.1256C>G	c.(1255-1257)aCa>aGa	p.T419R	FAM189A2_ENST00000455972.1_Missense_Mutation_p.T419R|FAM189A2_ENST00000469179.1_3'UTR|FAM189A2_ENST00000303068.7_Missense_Mutation_p.T254R|FAM189A2_ENST00000377216.3_Missense_Mutation_p.T206R	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	419						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CACACCTTCACACCAGCGGGG	0.682																																																	0													31.0	34.0	33.0					9																	72006623		2203	4299	6502	SO:0001583	missense	9413			L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"""chromosome 9 open reading frame 61"""	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.1256C>G	9.37:g.72006623C>G	ENSP00000257515:p.Thr419Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Missense_Mutation	SNP	pfam_CD20-like	p.T419R	ENST00000257515.8	37	c.1256	CCDS6629.1	9	.	.	.	.	.	.	.	.	.	.	C	7.012	0.556929	0.13436	.	.	ENSG00000135063	ENST00000455972;ENST00000257515;ENST00000303068;ENST00000377225;ENST00000377216	T;T;T	0.34667	4.12;4.12;1.35	5.53	2.47	0.30058	.	0.885835	0.09775	N	0.757489	T	0.23965	0.0580	L	0.40543	1.245	0.09310	N	1	P	0.34780	0.468	B	0.26969	0.075	T	0.15752	-1.0426	10	0.32370	T	0.25	-0.8938	5.0583	0.14544	0.0:0.5807:0.1516:0.2676	.	419	Q15884	F1892_HUMAN	R	419;419;254;418;206	ENSP00000395675:T419R;ENSP00000257515:T419R;ENSP00000304435:T254R	ENSP00000257515:T419R	T	+	2	0	FAM189A2	71196443	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.363000	0.20301	0.191000	0.20236	0.455000	0.32223	ACA	FAM189A2	-	NULL		0.682	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A2	HGNC	protein_coding	OTTHUMT00000052576.2	C	NM_004816		72006623	+1	no_errors	ENST00000257515	ensembl	human	known	70_37	missense	SNP	0.000	G
FAM189B	10712	genome.wustl.edu	37	1	155220086	155220086	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155220086G>A	ENST00000361361.2	-	9	2000	c.1491C>T	c.(1489-1491)atC>atT	p.I497I	FAM189B_ENST00000350210.2_Silent_p.I401I|FAM189B_ENST00000368368.3_Silent_p.I479I|FAM189B_ENST00000472550.1_5'Flank	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	497						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGGAGGTCGTGATGCCTGGGT	0.672																																																	0													21.0	17.0	18.0					1																	155220086		1793	3317	5110	SO:0001819	synonymous_variant	10712			AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.1491C>T	1.37:g.155220086G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AVS5|Q8IXL3|Q9BR66	Silent	SNP	pfam_CD20-like	p.I497	ENST00000361361.2	37	c.1491	CCDS1103.1	1																																																																																			FAM189B	-	NULL		0.672	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189B	HGNC	protein_coding	OTTHUMT00000087224.1	G	NM_006589		155220086	-1	no_errors	ENST00000361361	ensembl	human	known	70_37	silent	SNP	1.000	A
TVP23A	780776	genome.wustl.edu	37	16	10855381	10855381	+	5'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:10855381G>A	ENST00000572980.1	-	0	968				NUBP1_ENST00000433392.2_Intron|NUBP1_ENST00000571790.1_Intron|NUBP1_ENST00000283027.5_Intron			A6NH52	TV23A_HUMAN	trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)							integral component of membrane (GO:0016021)											TCTCATGGATGAGGAAACGAT	0.498																																																	0													50.0	47.0	48.0					16																	10855381		2197	4300	6497	SO:0001623	5_prime_UTR_variant	780776				CCDS45408.1	16p13.3	2012-11-29	2012-11-29	2012-11-29	ENSG00000166676	ENSG00000166676			20398	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member A"""	FAM18A			Standard	NM_001079512		Approved	YDR084C	uc010buo.1	A6NH52	OTTHUMG00000177389	ENST00000572980.1:c.-606C>T	16.37:g.10855381G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUV4|B7ZW18	RNA	SNP	-	NULL	ENST00000572980.1	37	NULL		16																																																																																			FAM18A	-	-		0.498	TVP23A-007	KNOWN	basic	processed_transcript	FAM18A	HGNC	protein_coding	OTTHUMT00000436674.1	G	NM_001079512		10855381	-1	no_errors	ENST00000572980	ensembl	human	known	70_37	rna	SNP	0.069	A
FAM193A	8603	genome.wustl.edu	37	4	2632837	2632837	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:2632837G>A	ENST00000324666.5	+	3	457	c.106G>A	c.(106-108)Gag>Aag	p.E36K	FAM193A_ENST00000505311.1_Missense_Mutation_p.E36K|FAM193A_ENST00000545951.1_Missense_Mutation_p.E36K|FAM193A_ENST00000382839.3_Missense_Mutation_p.E36K|FAM193A_ENST00000502458.1_Missense_Mutation_p.E36K	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	36										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CCTCCTGCTTGAGGAGTACGG	0.617																																																	0													55.0	55.0	55.0					4																	2632837		2203	4300	6503	SO:0001583	missense	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.106G>A	4.37:g.2632837G>A	ENSP00000324587:p.Glu36Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	NULL	p.E36K	ENST00000324666.5	37	c.106	CCDS58875.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.818450	0.96982	.	.	ENSG00000125386	ENST00000509050;ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458	T;T;T;T	0.37584	1.2;1.61;1.19;1.22	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.58595	0.2133	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.77557	0.99;0.99;0.99;0.962;0.99	T	0.59064	-0.7524	10	0.66056	D	0.02	-37.8248	18.5119	0.90920	0.0:0.0:1.0:0.0	.	36;36;36;36;36	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	K	36	ENSP00000372290:E36K;ENSP00000324587:E36K;ENSP00000443617:E36K;ENSP00000427505:E36K	ENSP00000324587:E36K	E	+	1	0	FAM193A	2602635	1.000000	0.71417	0.963000	0.40424	0.861000	0.49209	9.422000	0.97458	2.608000	0.88229	0.655000	0.94253	GAG	FAM193A	-	NULL		0.617	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	G	NM_003704		2632837	+1	no_errors	ENST00000324666	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM196B	100131897	genome.wustl.edu	37	5	169310879	169310879	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:169310879C>T	ENST00000377365.3	-	2	1405	c.24G>A	c.(22-24)gtG>gtA	p.V8V	DOCK2_ENST00000523351.1_Intron|FAM196B_ENST00000523970.1_5'Flank|DOCK2_ENST00000520908.1_Intron|DOCK2_ENST00000540750.1_Intron|DOCK2_ENST00000256935.8_Intron	NM_001129891.1	NP_001123363.1	A6NMK8	F196B_HUMAN	family with sequence similarity 196, member B	8										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1)	5						GCACAGGTCTCACTTTCATAT	0.483																																																	0													19.0	18.0	18.0					5																	169310879		692	1591	2283	SO:0001819	synonymous_variant	100131897				CCDS47336.1	5q35.1	2010-02-17	2009-09-11	2009-09-11	ENSG00000204767	ENSG00000204767			37271	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 57"""	C5orf57			Standard	NM_001129891		Approved		uc003mag.2	A6NMK8	OTTHUMG00000163083	ENST00000377365.3:c.24G>A	5.37:g.169310879C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.V8	ENST00000377365.3	37	c.24	CCDS47336.1	5																																																																																			FAM196B	-	NULL		0.483	FAM196B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM196B	HGNC	protein_coding	OTTHUMT00000371629.1	C	NM_001129891		169310879	-1	no_errors	ENST00000377365	ensembl	human	known	70_37	silent	SNP	1.000	T
FAM198A	729085	genome.wustl.edu	37	3	43074109	43074109	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:43074109G>A	ENST00000430121.2	+	2	449	c.354G>A	c.(352-354)gtG>gtA	p.V118V	KRBOX1_ENST00000443313.1_Intron	NM_001129908.2	NP_001123380.2	Q9UFP1	F198A_HUMAN	family with sequence similarity 198, member A	118						extracellular region (GO:0005576)				endometrium(1)	1						CAGGGAGGGTGAGGAGGGACA	0.557																																																	0													104.0	99.0	101.0					3																	43074109		692	1591	2283	SO:0001819	synonymous_variant	729085			AL117530	CCDS46808.1	3p22.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000144649	ENSG00000144649			24485	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 41"""	C3orf41			Standard	NM_001129908		Approved	DKFZP434B172	uc003cmp.4	Q9UFP1	OTTHUMG00000156449	ENST00000430121.2:c.354G>A	3.37:g.43074109G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KR48	Silent	SNP	NULL	p.V118	ENST00000430121.2	37	c.354	CCDS46808.1	3																																																																																			FAM198A	-	NULL		0.557	FAM198A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM198A	HGNC	protein_coding	OTTHUMT00000344240.3	G	NM_001129908		43074109	+1	no_errors	ENST00000273146	ensembl	human	known	70_37	silent	SNP	0.004	A
FAM208A	23272	genome.wustl.edu	37	3	56659007	56659007	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:56659007C>A	ENST00000493960.2	-	22	4177	c.4167G>T	c.(4165-4167)ttG>ttT	p.L1389F	FAM208A_ENST00000485156.1_Intron|FAM208A_ENST00000431842.2_Missense_Mutation_p.L952F|FAM208A_ENST00000355628.5_Missense_Mutation_p.L1328F	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1389							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TCAGAAGCGTCAACAGACTTA	0.343																																																	0													76.0	78.0	77.0					3																	56659007		2203	4300	6503	SO:0001583	missense	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.4167G>T	3.37:g.56659007C>A	ENSP00000417509:p.Leu1389Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	pfam_DUF3715	p.L1328F	ENST00000493960.2	37	c.3984	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260065	0.59321	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.62941	-0.01;-0.01;-0.01	5.55	4.68	0.58851	.	0.000000	0.51477	D	0.000098	T	0.71879	0.3392	L	0.56769	1.78	0.46981	D	0.999278	D;P;D;D	0.63880	0.993;0.811;0.993;0.986	P;P;D;P	0.65140	0.869;0.66;0.932;0.741	T	0.73987	-0.3809	10	0.87932	D	0	-0.6869	9.8342	0.40960	0.0:0.6728:0.2557:0.0715	.	1389;1328;952;1389	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	F	952;1389;1328	ENSP00000399410:L952F;ENSP00000417509:L1389F;ENSP00000347845:L1328F	ENSP00000347845:L1328F	L	-	3	2	C3orf63	56634047	1.000000	0.71417	0.983000	0.44433	0.972000	0.66771	1.382000	0.34374	1.340000	0.45581	0.655000	0.94253	TTG	FAM208A	-	NULL		0.343	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	C	NM_015224		56659007	-1	no_errors	ENST00000355628	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM3D	131177	genome.wustl.edu	37	3	58620041	58620041	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:58620041C>G	ENST00000358781.2	-	10	950	c.640G>C	c.(640-642)Gag>Cag	p.E214Q	RP11-475O23.3_ENST00000464125.1_RNA	NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	214					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CCCTCCATCTCCAGCAGCTCT	0.537																																																	0													87.0	88.0	88.0					3																	58620041		2203	4300	6503	SO:0001583	missense	131177			AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.640G>C	3.37:g.58620041C>G	ENSP00000351632:p.Glu214Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q547G2	Missense_Mutation	SNP	NULL	p.E214Q	ENST00000358781.2	37	c.640	CCDS2893.1	3	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985259	0.74474	.	.	ENSG00000198643	ENST00000358781	T	0.23552	1.9	5.3	3.48	0.39840	.	0.143817	0.47093	D	0.000254	T	0.40886	0.1135	L	0.53561	1.675	0.44110	D	0.996883	D	0.71674	0.998	D	0.68192	0.956	T	0.14783	-1.0460	10	0.41790	T	0.15	-36.793	10.4282	0.44391	0.0:0.8292:0.0:0.1708	.	214	Q96BQ1	FAM3D_HUMAN	Q	214	ENSP00000351632:E214Q	ENSP00000351632:E214Q	E	-	1	0	FAM3D	58595081	1.000000	0.71417	0.961000	0.40146	0.877000	0.50540	3.275000	0.51639	1.384000	0.46424	0.655000	0.94253	GAG	FAM3D	-	NULL		0.537	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3D	HGNC	protein_coding	OTTHUMT00000353494.1	C	NM_138805		58620041	-1	no_errors	ENST00000358781	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM49A	81553	genome.wustl.edu	37	2	16734221	16734221	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:16734221G>C	ENST00000381323.3	-	12	1175	c.955C>G	c.(955-957)Cga>Gga	p.R319G	FAM49A_ENST00000355549.2_Missense_Mutation_p.R319G|FAM49A_ENST00000406434.1_Missense_Mutation_p.R319G	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	319						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			AGCATTGCTCGAATCTGTTTG	0.398																																																	0													214.0	187.0	196.0					2																	16734221		2203	4300	6503	SO:0001583	missense	81553			AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.955C>G	2.37:g.16734221G>C	ENSP00000370724:p.Arg319Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNZ1|Q53QW2	Missense_Mutation	SNP	pfam_DUF1394	p.R319G	ENST00000381323.3	37	c.955	CCDS1688.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947178	0.73672	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	T;T;T	0.51071	0.72;0.72;0.72	5.66	4.73	0.59995	.	0.060445	0.64402	D	0.000004	T	0.57475	0.2056	M	0.65498	2.005	0.54753	D	0.999983	P	0.47545	0.897	P	0.50659	0.647	T	0.62029	-0.6940	10	0.87932	D	0	-8.2843	14.8773	0.70504	0.0:0.0:0.8562:0.1438	.	319	Q9H0Q0	FA49A_HUMAN	G	319	ENSP00000370724:R319G;ENSP00000384771:R319G;ENSP00000347744:R319G	ENSP00000347744:R319G	R	-	1	2	FAM49A	16597702	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.419000	0.44671	2.840000	0.97914	0.655000	0.94253	CGA	FAM49A	-	pfam_DUF1394		0.398	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49A	HGNC	protein_coding	OTTHUMT00000207203.2	G	NM_030797		16734221	-1	no_errors	ENST00000355549	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM49B	51571	genome.wustl.edu	37	8	130864412	130864412	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:130864412G>A	ENST00000519824.2	-	8	902	c.629C>T	c.(628-630)tCa>tTa	p.S210L	FAM49B_ENST00000523509.1_Missense_Mutation_p.S210L|FAM49B_ENST00000522746.1_Missense_Mutation_p.S210L|FAM49B_ENST00000522250.1_Missense_Mutation_p.S64L|FAM49B_ENST00000517654.1_Missense_Mutation_p.S210L|FAM49B_ENST00000401979.2_Missense_Mutation_p.S210L|FAM49B_ENST00000519540.1_Missense_Mutation_p.S210L|FAM49B_ENST00000519110.1_Missense_Mutation_p.S210L|FAM49B_ENST00000522941.1_Missense_Mutation_p.S64L	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	210						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			GCTTACCTCTGATACAAATTT	0.398																																																	0													146.0	121.0	129.0					8																	130864412		2203	4300	6503	SO:0001583	missense	51571			AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.629C>T	8.37:g.130864412G>A	ENSP00000429150:p.Ser210Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AZ5|Q9NW21|Q9NZE7	Missense_Mutation	SNP	pfam_DUF1394	p.S210L	ENST00000519824.2	37	c.629	CCDS6361.1	8	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870766	0.72065	.	.	ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000522250;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000522941;ENST00000311292	T;T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.98	5.98	0.97165	.	0.060484	0.64402	D	0.000002	T	0.54224	0.1845	M	0.66506	2.035	0.80722	D	1	B	0.29612	0.251	B	0.35312	0.2	T	0.50197	-0.8856	10	0.42905	T	0.14	-18.3599	19.4463	0.94849	0.0:0.0:1.0:0.0	.	210	Q9NUQ9	FA49B_HUMAN	L	210;210;210;210;64;210;210;210;64;164	ENSP00000428117:S210L;ENSP00000429802:S210L;ENSP00000384880:S210L;ENSP00000429078:S210L;ENSP00000429978:S64L;ENSP00000429150:S210L;ENSP00000430674:S210L;ENSP00000429499:S210L;ENSP00000430433:S64L	ENSP00000311651:S164L	S	-	2	0	FAM49B	130933594	1.000000	0.71417	0.984000	0.44739	0.725000	0.41563	7.863000	0.87023	2.835000	0.97688	0.650000	0.86243	TCA	FAM49B	-	pfam_DUF1394		0.398	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49B	HGNC	protein_coding	OTTHUMT00000380390.2	G	NM_016623		130864412	-1	no_errors	ENST00000401979	ensembl	human	known	70_37	missense	SNP	0.996	A
FAM49B	51571	genome.wustl.edu	37	8	130891638	130891638	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:130891638C>T	ENST00000519824.2	-	3	343	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	FAM49B_ENST00000523509.1_Missense_Mutation_p.E24K|FAM49B_ENST00000522746.1_Missense_Mutation_p.E24K|FAM49B_ENST00000522250.1_Intron|FAM49B_ENST00000517654.1_Missense_Mutation_p.E24K|FAM49B_ENST00000518879.1_Intron|FAM49B_ENST00000401979.2_Missense_Mutation_p.E24K|FAM49B_ENST00000519540.1_Missense_Mutation_p.E24K|FAM49B_ENST00000519110.1_Missense_Mutation_p.E24K|FAM49B_ENST00000522941.1_Intron	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	24						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			TTCTCACTTTCAAAATCAAGG	0.373																																																	0													71.0	72.0	72.0					8																	130891638		2203	4300	6503	SO:0001583	missense	51571			AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.70G>A	8.37:g.130891638C>T	ENSP00000429150:p.Glu24Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AZ5|Q9NW21|Q9NZE7	Missense_Mutation	SNP	pfam_DUF1394	p.E24K	ENST00000519824.2	37	c.70	CCDS6361.1	8	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026117	0.75390	.	.	ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000519142;ENST00000520204;ENST00000518283;ENST00000523993;ENST00000520254;ENST00000519020;ENST00000518167;ENST00000517672;ENST00000519070;ENST00000522361	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.69566	0.3125	M	0.89095	3.005	0.80722	D	1	P	0.35944	0.529	B	0.44163	0.443	T	0.71991	-0.4425	10	0.51188	T	0.08	.	19.0666	0.93114	0.0:1.0:0.0:0.0	.	24	Q9NUQ9	FA49B_HUMAN	K	24	ENSP00000428117:E24K;ENSP00000429802:E24K;ENSP00000384880:E24K;ENSP00000429078:E24K;ENSP00000429150:E24K;ENSP00000430674:E24K;ENSP00000429499:E24K;ENSP00000430806:E24K;ENSP00000429051:E24K;ENSP00000430694:E24K;ENSP00000429074:E24K;ENSP00000430127:E24K;ENSP00000429659:E24K;ENSP00000427994:E24K;ENSP00000430434:E24K;ENSP00000429860:E24K;ENSP00000430412:E24K	ENSP00000384880:E24K	E	-	1	0	FAM49B	130960820	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.270000	0.78493	2.736000	0.93811	0.655000	0.94253	GAA	FAM49B	-	pfam_DUF1394		0.373	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49B	HGNC	protein_coding	OTTHUMT00000380390.2	C	NM_016623		130891638	-1	no_errors	ENST00000401979	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM63A	55793	genome.wustl.edu	37	1	150974870	150974870	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:150974870G>C	ENST00000361936.5	-	3	1178	c.224C>G	c.(223-225)tCa>tGa	p.S75*	FAM63A_ENST00000493834.2_5'UTR|FAM63A_ENST00000361738.6_Nonsense_Mutation_p.S123*|FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000470877.1_Intron	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	75						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGTGGAGCTGAGCTAGCTTC	0.607																																																	0													78.0	72.0	74.0					1																	150974870		2203	4300	6503	SO:0001587	stop_gained	55793			BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.224C>G	1.37:g.150974870G>C	ENSP00000354814:p.Ser75*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Nonsense_Mutation	SNP	pfam_DUF544	p.S123*	ENST00000361936.5	37	c.368	CCDS976.1	1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750797	0.69533	.	.	ENSG00000143409	ENST00000361936;ENST00000361738	.	.	.	5.18	2.04	0.26737	.	1.044730	0.07562	N	0.917135	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-0.0121	8.2429	0.31671	0.2821:0.0:0.7179:0.0	.	.	.	.	X	75;123	.	ENSP00000354669:S123X	S	-	2	0	FAM63A	149241494	0.000000	0.05858	0.002000	0.10522	0.067000	0.16453	0.500000	0.22562	0.256000	0.21614	0.655000	0.94253	TCA	FAM63A	-	NULL		0.607	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM63A	HGNC	protein_coding	OTTHUMT00000411753.1	G	NM_018379		150974870	-1	no_errors	ENST00000361738	ensembl	human	known	70_37	nonsense	SNP	0.003	C
FAM83C	128876	genome.wustl.edu	37	20	33875238	33875238	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:33875238G>A	ENST00000374408.3	-	4	1440	c.1344C>T	c.(1342-1344)cgC>cgT	p.R448R	EIF6_ENST00000374436.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374443.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	448										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGGGCCGGGAGCGAGGAAGCA	0.647																																																	0													38.0	34.0	35.0					20																	33875238		2203	4300	6503	SO:0001819	synonymous_variant	128876			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1344C>T	20.37:g.33875238G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14D67|Q5JWN6|Q8N276	Silent	SNP	pfam_DUF1669	p.R448	ENST00000374408.3	37	c.1344	CCDS13251.1	20																																																																																			FAM83C	-	NULL		0.647	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83C	HGNC	protein_coding	OTTHUMT00000078854.3	G			33875238	-1	no_errors	ENST00000374408	ensembl	human	known	70_37	silent	SNP	0.000	A
FAM83C	128876	genome.wustl.edu	37	20	33875249	33875249	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:33875249G>A	ENST00000374408.3	-	4	1429	c.1333C>T	c.(1333-1335)Ctg>Ttg	p.L445L	EIF6_ENST00000374436.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374443.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	445										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CGAGGAAGCAGAGGTGACCCC	0.637																																																	0													47.0	41.0	43.0					20																	33875249		2203	4300	6503	SO:0001819	synonymous_variant	128876			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1333C>T	20.37:g.33875249G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14D67|Q5JWN6|Q8N276	Silent	SNP	pfam_DUF1669	p.L445	ENST00000374408.3	37	c.1333	CCDS13251.1	20																																																																																			FAM83C	-	NULL		0.637	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83C	HGNC	protein_coding	OTTHUMT00000078854.3	G			33875249	-1	no_errors	ENST00000374408	ensembl	human	known	70_37	silent	SNP	0.996	A
FAM86B1	85002	genome.wustl.edu	37	8	12040405	12040405	+	3'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:12040405G>C	ENST00000448228.2	-	0	1650				AC145124.1_ENST00000579282.1_RNA|FAM86B1_ENST00000533852.2_3'UTR	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1											kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		TTCTTCTTTGGAGTCTCTGAA	0.537																																																	0																																										SO:0001624	3_prime_UTR_variant	85002			BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.*710C>G	8.37:g.12040405G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000448228.2	37	NULL	CCDS59512.1	8																																																																																			FAM86B1	-	-		0.537	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	FAM86B1	HGNC	protein_coding	OTTHUMT00000383317.1	G	NM_032916		12040405	-1	no_errors	ENST00000529146	ensembl	human	known	70_37	rna	SNP	0.100	C
FAM86JP	100125556	genome.wustl.edu	37	3	125635577	125635577	+	RNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:125635577G>A	ENST00000485843.1	+	0	105					NR_024251.1				family with sequence similarity 86, member J, pseudogene																		GCGGCGGGGCGAGCGGAGAGG	0.721																																																	0																																												100125556					3q21.2	2012-06-28			ENSG00000171084	ENSG00000171084			44097	pseudogene	pseudogene							Standard	NR_024250		Approved		uc003eif.4		OTTHUMG00000159586		3.37:g.125635577G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000485843.1	37	NULL		3																																																																																			FAM86JP	-	-		0.721	FAM86JP-004	KNOWN	basic	processed_transcript	FAM86JP	HGNC	pseudogene	OTTHUMT00000356339.1	G	NR_024251		125635577	+1	no_errors	ENST00000485843	ensembl	human	known	70_37	rna	SNP	0.002	A
FAM90A24P	441332	genome.wustl.edu	37	8	7878260	7878260	+	RNA	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:7878260G>C	ENST00000521100.1	-	0	531							P0C7X0	F90AO_HUMAN	family with sequence similarity 90, member A24, pseudogene								nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										CCTGGTGCCTGACTGCAGGCT	0.642																																																	0																																												441332					8p23.1	2011-08-31	2011-04-15	2008-06-19		ENSG00000215354			32272	pseudogene	pseudogene			"""family with sequence similarity 90, member A24"""	FAM90A24			Standard	NG_006004		Approved			P0C7X0	OTTHUMG00000163642		8.37:g.7878260G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MWA1	RNA	SNP	-	NULL	ENST00000521100.1	37	NULL		8																																																																																			FAM90A24P	-	-		0.642	FAM90A24P-002	KNOWN	mRNA_end_NF|basic	processed_transcript	FAM90A24P	HGNC	pseudogene	OTTHUMT00000374637.1	G	NG_006004		7878260	-1	no_errors	ENST00000521100	ensembl	human	known	70_37	rna	SNP	0.000	C
FAM9A	171482	genome.wustl.edu	37	X	8761788	8761788	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:8761788G>C	ENST00000543214.1	-	8	976	c.841C>G	c.(841-843)Caa>Gaa	p.Q281E	FAM9A_ENST00000381003.3_Missense_Mutation_p.Q281E	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	281						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				TGTTTTTCTTGAAATGCTTTC	0.353																																																	0													91.0	80.0	84.0					X																	8761788		2203	4300	6503	SO:0001583	missense	171482				CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.841C>G	X.37:g.8761788G>C	ENSP00000440163:p.Gln281Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLH5|Q2M2D1	Missense_Mutation	SNP	NULL	p.Q281E	ENST00000543214.1	37	c.841	CCDS14131.1	X	.	.	.	.	.	.	.	.	.	.	g	4.105	0.017640	0.07959	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.678	0.678	0.17969	.	.	.	.	.	T	0.26484	0.0647	N	0.19112	0.55	0.09310	N	1	P	0.45594	0.862	P	0.45829	0.494	T	0.14392	-1.0474	7	0.87932	D	0	.	.	.	.	.	281	Q8IZU1	FAM9A_HUMAN	E	281	.	ENSP00000370391:Q281E	Q	-	1	0	FAM9A	8721788	0.989000	0.36119	0.003000	0.11579	0.005000	0.04900	1.449000	0.35123	0.609000	0.30018	0.458000	0.33432	CAA	FAM9A	-	NULL		0.353	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM9A	HGNC	protein_coding	OTTHUMT00000055697.1	G	NM_174951		8761788	-1	no_errors	ENST00000381003	ensembl	human	known	70_37	missense	SNP	0.003	C
FAN1	22909	genome.wustl.edu	37	15	31221463	31221463	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:31221463G>C	ENST00000362065.4	+	12	2941	c.2650G>C	c.(2650-2652)Gag>Cag	p.E884Q	FAN1_ENST00000568145.1_3'UTR|RP11-540B6.6_ENST00000602886.1_RNA	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	884					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CCCAGCCCTTGAGGCCAGGCT	0.607								Direct reversal of damage																																									0													94.0	91.0	92.0					15																	31221463		2202	4300	6502	SO:0001583	missense	22909				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2650G>C	15.37:g.31221463G>C	ENSP00000354497:p.Glu884Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4M2|Q86WU8	Missense_Mutation	SNP	pfam_VRR_NUC,smart_Znf_Rad18_put	p.E884Q	ENST00000362065.4	37	c.2650	CCDS32186.1	15	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688017	0.68271	.	.	ENSG00000198690	ENST00000362065	T	0.51817	0.69	5.39	5.39	0.77823	.	0.058400	0.64402	D	0.000002	T	0.61426	0.2346	M	0.71581	2.175	0.80722	D	1	D;D	0.54047	0.964;0.964	P;P	0.51895	0.633;0.683	T	0.63717	-0.6574	10	0.52906	T	0.07	-30.0295	19.1258	0.93384	0.0:0.0:1.0:0.0	.	884;884	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	Q	884	ENSP00000354497:E884Q	ENSP00000354497:E884Q	E	+	1	0	FAN1	29008755	1.000000	0.71417	0.973000	0.42090	0.437000	0.31866	6.971000	0.76105	2.684000	0.91462	0.650000	0.86243	GAG	FAN1	-	NULL		0.607	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	HGNC	protein_coding	OTTHUMT00000430740.1	G	NM_014967		31221463	+1	no_errors	ENST00000362065	ensembl	human	known	70_37	missense	SNP	0.999	C
FANCI	55215	genome.wustl.edu	37	15	89816662	89816662	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:89816662C>T	ENST00000310775.7	+	11	1023	c.937C>T	c.(937-939)Ctt>Ttt	p.L313F	FANCI_ENST00000300027.8_Missense_Mutation_p.L313F	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	313					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CATTGCTCTTCTTCTGTCTGT	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													118.0	124.0	122.0					15																	89816662		2200	4299	6499	SO:0001583	missense	55215	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.937C>T	15.37:g.89816662C>T	ENSP00000310842:p.Leu313Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	NULL	p.L313F	ENST00000310775.7	37	c.937	CCDS45346.1	15	.	.	.	.	.	.	.	.	.	.	c	15.48	2.846771	0.51164	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.77750	-1.08;-1.12;-0.36	5.44	2.37	0.29283	.	0.072264	0.56097	N	0.000021	D	0.84924	0.5580	M	0.76002	2.32	0.80722	D	1	B;D;D	0.89917	0.028;1.0;1.0	B;D;D	0.81914	0.042;0.992;0.995	D	0.83425	0.0035	10	0.51188	T	0.08	-5.0947	9.4727	0.38853	0.0:0.6303:0.0:0.3697	.	313;313;313	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	F	313	ENSP00000300027:L313F;ENSP00000310842:L313F;ENSP00000413249:L313F	ENSP00000300027:L313F	L	+	1	0	FANCI	87617666	0.962000	0.33011	1.000000	0.80357	0.700000	0.40528	0.132000	0.15891	0.609000	0.30018	-0.349000	0.07799	CTT	FANCI	-	NULL		0.313	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	HGNC	protein_coding	OTTHUMT00000421140.1	C	NM_018193		89816662	+1	no_errors	ENST00000310775	ensembl	human	known	70_37	missense	SNP	0.995	T
FAP	2191	genome.wustl.edu	37	2	163070562	163070562	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:163070562G>A	ENST00000188790.4	-	11	1095	c.888C>T	c.(886-888)ctC>ctT	p.L296L	FAP_ENST00000443424.1_Silent_p.L271L	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TAACCCACGTGAGCCAACTGA	0.368																																																	0													77.0	74.0	75.0					2																	163070562		2203	4300	6503	SO:0001819	synonymous_variant	2191			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.888C>T	2.37:g.163070562G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.L296	ENST00000188790.4	37	c.888	CCDS33311.1	2																																																																																			FAP	-	pfam_Peptidase_S9B		0.368	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	G			163070562	-1	no_errors	ENST00000188790	ensembl	human	known	70_37	silent	SNP	0.951	A
FARP1	10160	genome.wustl.edu	37	13	99037958	99037958	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:99037958G>C	ENST00000319562.6	+	8	914	c.649G>C	c.(649-651)Gag>Cag	p.E217Q	FARP1_ENST00000595437.1_Missense_Mutation_p.E217Q|FARP1_ENST00000376586.2_Missense_Mutation_p.E217Q	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	217	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCAGCTCCTAGAGATTGCCCG	0.468																																																	0													94.0	93.0	93.0					13																	99037958		2203	4300	6503	SO:0001583	missense	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.649G>C	13.37:g.99037958G>C	ENSP00000322926:p.Glu217Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JVI9|Q6IQ29	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E217Q	ENST00000319562.6	37	c.649	CCDS9487.1	13	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904041	0.92035	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.74842	-0.88;-0.88	5.85	5.0	0.66597	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.149661	0.64402	D	0.000014	D	0.84629	0.5514	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.86411	0.1748	10	0.87932	D	0	.	14.8318	0.70153	0.0689:0.0:0.9311:0.0	.	217;217	Q9Y4F1;C9JME2	FARP1_HUMAN;.	Q	217	ENSP00000365771:E217Q;ENSP00000322926:E217Q	ENSP00000322926:E217Q	E	+	1	0	FARP1	97835959	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.869000	0.99810	1.472000	0.48140	0.655000	0.94253	GAG	FARP1	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam		0.468	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	G	NM_005766		99037958	+1	no_errors	ENST00000376586	ensembl	human	known	70_37	missense	SNP	1.000	C
FAS	355	genome.wustl.edu	37	10	90773992	90773992	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:90773992G>C	ENST00000355740.2	+	9	1013	c.793G>C	c.(793-795)Gac>Cac	p.D265H	FAS_ENST00000355279.2_3'UTR|FAS_ENST00000352159.4_3'UTR|RP11-399O19.9_ENST00000562983.1_RNA|FAS_ENST00000357339.2_Missense_Mutation_p.D244H	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	GATCAAGAATGACAATGTCCA	0.373																																																	0													128.0	119.0	122.0					10																	90773992		2203	4300	6503	SO:0001583	missense	355			M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355740.2:c.793G>C	10.37:g.90773992G>C	ENSP00000347979:p.Asp265His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt	p.D265H	ENST00000355740.2	37	c.793	CCDS7393.1	10	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726394	0.30593	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000357339	D;D	0.94497	-3.44;-3.44	4.65	1.6	0.23607	Death (3);DEATH-like (2);	2.843700	0.01218	N	0.008038	D	0.93530	0.7935	M	0.79258	2.445	0.34795	D	0.736082	P;P	0.39250	0.613;0.665	B;B	0.33799	0.104;0.17	D	0.84347	0.0530	10	0.72032	D	0.01	-26.9019	7.2215	0.25990	0.3103:0.0:0.6897:0.0	.	244;265	P25445-6;P25445	.;TNR6_HUMAN	H	292;265;244	ENSP00000347979:D265H;ENSP00000349896:D244H	ENSP00000347979:D265H	D	+	1	0	FAS	90763972	0.288000	0.24324	0.817000	0.32601	0.833000	0.47200	1.089000	0.30890	0.211000	0.20683	0.650000	0.86243	GAC	FAS	-	pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death		0.373	FAS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAS	HGNC	protein_coding	OTTHUMT00000049274.3	G			90773992	+1	no_errors	ENST00000355740	ensembl	human	known	70_37	missense	SNP	0.491	C
FASTKD1	79675	genome.wustl.edu	37	2	170394627	170394627	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:170394627C>G	ENST00000453153.2	-	11	2316	c.1970G>C	c.(1969-1971)aGa>aCa	p.R657T	FASTKD1_ENST00000495505.1_5'UTR|FASTKD1_ENST00000453929.2_Intron	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	657					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AAACTGGACTCTTGCACTTCG	0.348																																																	0													163.0	180.0	175.0					2																	170394627		2203	4300	6503	SO:0001583	missense	79675			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1970G>C	2.37:g.170394627C>G	ENSP00000400513:p.Arg657Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.R657T	ENST00000453153.2	37	c.1970	CCDS33318.1	2	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111173	0.37242	.	.	ENSG00000138399	ENST00000453153	T	0.44482	0.92	5.23	1.42	0.22433	FAST kinase-like protein, subdomain 2 (1);	0.438980	0.28448	N	0.015303	T	0.29684	0.0741	L	0.47016	1.485	0.19300	N	0.999979	P	0.38420	0.63	B	0.34093	0.175	T	0.10776	-1.0615	10	0.30078	T	0.28	-15.6743	8.8883	0.35418	0.0:0.6898:0.0:0.3102	.	657	Q53R41	FAKD1_HUMAN	T	657	ENSP00000400513:R657T	ENSP00000400513:R657T	R	-	2	0	FASTKD1	170102873	0.000000	0.05858	0.002000	0.10522	0.328000	0.28507	-0.183000	0.09712	0.076000	0.16826	0.563000	0.77884	AGA	FASTKD1	-	pfam_FAST_2		0.348	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FASTKD1	HGNC	protein_coding	OTTHUMT00000337788.2	C	NM_024622		170394627	-1	no_errors	ENST00000453153	ensembl	human	known	70_37	missense	SNP	0.009	G
FASTKD3	79072	genome.wustl.edu	37	5	7866836	7866836	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:7866836G>A	ENST00000264669.5	-	2	1497	c.1361C>T	c.(1360-1362)tCa>tTa	p.S454L	MTRR_ENST00000341013.6_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	454					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AAGTGAACATGAATGAAGAAG	0.368																																																	0													62.0	64.0	64.0					5																	7866836		2203	4300	6503	SO:0001583	missense	79072			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1361C>T	5.37:g.7866836G>A	ENSP00000264669:p.Ser454Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BVD3	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.S454L	ENST00000264669.5	37	c.1361	CCDS3873.1	5	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583422	0.65992	.	.	ENSG00000124279	ENST00000264669	T	0.66460	-0.21	4.95	4.95	0.65309	FAST kinase leucine-rich (1);	0.066076	0.64402	D	0.000006	T	0.74520	0.3727	L	0.41961	1.31	0.58432	D	0.999999	D	0.65815	0.995	P	0.60949	0.881	T	0.75243	-0.3386	10	0.49607	T	0.09	-20.0253	18.3841	0.90461	0.0:0.0:1.0:0.0	.	454	Q14CZ7	FAKD3_HUMAN	L	454	ENSP00000264669:S454L	ENSP00000264669:S454L	S	-	2	0	FASTKD3	7919836	1.000000	0.71417	0.939000	0.37840	0.663000	0.39108	7.056000	0.76662	2.548000	0.85928	0.655000	0.94253	TCA	FASTKD3	-	pfam_FAST_Leu-rich		0.368	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD3	HGNC	protein_coding	OTTHUMT00000253673.1	G	NM_024091		7866836	-1	no_errors	ENST00000264669	ensembl	human	known	70_37	missense	SNP	1.000	A
FAT2	2196	genome.wustl.edu	37	5	150947811	150947811	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:150947811G>A	ENST00000261800.5	-	1	694	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	228	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGATTTTCCGCATGCGGTCC	0.597																																																	0													50.0	44.0	46.0					5																	150947811		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.682C>T	5.37:g.150947811G>A	ENSP00000261800:p.Arg228Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R228W	ENST00000261800.5	37	c.682	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646340	0.67358	.	.	ENSG00000086570	ENST00000261800	T	0.52754	0.65	5.34	-3.92	0.04155	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000018	T	0.59569	0.2203	L	0.52573	1.65	0.36907	D	0.890728	D	0.89917	1.0	D	0.79784	0.993	T	0.68198	-0.5472	10	0.66056	D	0.02	.	18.9547	0.92654	0.0:0.0:0.2762:0.7238	.	228	Q9NYQ8	FAT2_HUMAN	W	228	ENSP00000261800:R228W	ENSP00000261800:R228W	R	-	1	2	FAT2	150928004	1.000000	0.71417	0.980000	0.43619	0.989000	0.77384	1.470000	0.35354	-0.336000	0.08438	0.555000	0.69702	CGG	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.597	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150947811	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	missense	SNP	0.973	A
FAT4	79633	genome.wustl.edu	37	4	126337605	126337605	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:126337605G>A	ENST00000394329.3	+	6	6859	c.6846G>A	c.(6844-6846)gtG>gtA	p.V2282V	FAT4_ENST00000335110.5_Silent_p.V580V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2282	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCTACAGGTGGTGGCAAGAG	0.368																																																	0													256.0	245.0	248.0					4																	126337605		2203	4300	6503	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6846G>A	4.37:g.126337605G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V2282	ENST00000394329.3	37	c.6846	CCDS3732.3	4																																																																																			FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.368	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	G	NM_024582		126337605	+1	no_errors	ENST00000394329	ensembl	human	known	70_37	silent	SNP	0.989	A
FBLN1	2192	genome.wustl.edu	37	22	45970481	45970481	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:45970481C>G	ENST00000327858.6	+	15	1883	c.1788C>G	c.(1786-1788)atC>atG	p.I596M	FBLN1_ENST00000348697.2_Intron	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	596					embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGCACACCATCTCCCACACCG	0.647																																																	0													221.0	122.0	155.0					22																	45970481		2203	4300	6503	SO:0001583	missense	2192				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1788C>G	22.37:g.45970481C>G	ENSP00000331544:p.Ile596Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.I596M	ENST00000327858.6	37	c.1788	CCDS14067.1	22	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145230	0.57044	.	.	ENSG00000077942	ENST00000327858	D	0.84944	-1.92	4.94	2.63	0.31362	.	0.606187	0.17013	N	0.190402	T	0.76407	0.3983	N	0.24115	0.695	0.80722	D	1	P	0.44776	0.843	P	0.48270	0.572	T	0.72795	-0.4185	10	0.51188	T	0.08	.	2.0262	0.03519	0.1983:0.4781:0.1925:0.1311	.	596	P23142	FBLN1_HUMAN	M	596	ENSP00000331544:I596M	ENSP00000331544:I596M	I	+	3	3	FBLN1	44349145	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.784000	0.26816	1.015000	0.39444	0.563000	0.77884	ATC	FBLN1	-	pirsf_Fibulin-1		0.647	FBLN1-001	KNOWN	basic|CCDS	protein_coding	FBLN1	HGNC	protein_coding	OTTHUMT00000322287.1	C	NM_006486		45970481	+1	no_errors	ENST00000327858	ensembl	human	known	70_37	missense	SNP	1.000	G
FBLN2	2199	genome.wustl.edu	37	3	13669378	13669378	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:13669378C>T	ENST00000295760.7	+	10	2406	c.2337C>T	c.(2335-2337)ttC>ttT	p.F779F	FBLN2_ENST00000404922.3_Silent_p.F826F|FBLN2_ENST00000492059.1_Silent_p.F826F|FBLN2_ENST00000535798.1_Silent_p.F805F	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	779	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCCGGGCTTCTTGTGCCAGA	0.637																																																	0													40.0	45.0	43.0					3																	13669378		2074	4197	6271	SO:0001819	synonymous_variant	2199			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2337C>T	3.37:g.13669378C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.F826	ENST00000295760.7	37	c.2478	CCDS46762.1	3																																																																																			FBLN2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.637	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	C	NM_001004019		13669378	+1	no_errors	ENST00000404922	ensembl	human	known	70_37	silent	SNP	0.528	T
FBXL16	146330	genome.wustl.edu	37	16	747106	747106	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:747106C>G	ENST00000397621.1	-	2	631	c.300G>C	c.(298-300)aaG>aaC	p.K100N	FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000562563.1_5'Flank|FBXL16_ENST00000324361.5_Missense_Mutation_p.K100N	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	100	F-box.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				CATTGAGGATCTTCTCGTCCG	0.682																																																	0													20.0	24.0	22.0					16																	747106		2197	4292	6489	SO:0001583	missense	146330			BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"""F-boxes / Leucine-rich repeats"""	14150	protein-coding gene	gene with protein product		609082	"""chromosome 16 open reading frame 22"""	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.300G>C	16.37:g.747106C>G	ENSP00000380746:p.Lys100Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp	p.K100N	ENST00000397621.1	37	c.300	CCDS10421.1	16	.	.	.	.	.	.	.	.	.	.	c	9.084	1.000076	0.19121	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	T;T	0.08807	3.05;3.05	4.25	2.28	0.28536	F-box domain, Skp2-like (1);	0.102755	0.64402	D	0.000004	T	0.09905	0.0243	L	0.61387	1.9	0.51482	D	0.99992	B	0.11235	0.004	B	0.08055	0.003	T	0.07404	-1.0774	10	0.51188	T	0.08	.	9.1099	0.36720	0.0:0.819:0.0:0.181	.	100	Q8N461	FXL16_HUMAN	N	100	ENSP00000380746:K100N;ENSP00000318674:K100N	ENSP00000318674:K100N	K	-	3	2	FBXL16	687107	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	3.645000	0.54389	0.278000	0.22164	0.313000	0.20887	AAG	FBXL16	-	superfamily_F-box_dom_cyclin-like		0.682	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL16	HGNC	protein_coding	OTTHUMT00000206851.2	C	NM_153350		747106	-1	no_errors	ENST00000324361	ensembl	human	known	70_37	missense	SNP	1.000	G
FBXL19	54620	genome.wustl.edu	37	16	30934103	30934103	+	5'Flank	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30934103C>G	ENST00000380310.2	+	0	0				FBXL19-AS1_ENST00000563777.1_RNA|FBXL19_ENST00000562319.1_5'Flank|FBXL19_ENST00000565690.1_5'Flank|FBXL19_ENST00000338343.4_5'Flank|FBXL19_ENST00000471231.2_5'Flank	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TCCATTGTCTCGACTTGAGAT	0.667																																																	0																																										SO:0001631	upstream_gene_variant	283932			AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403		16.37:g.30934103C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MT10|Q8N789|Q9NT14	RNA	SNP	-	NULL	ENST00000380310.2	37	NULL	CCDS45465.1	16																																																																																			FBXL19-AS1	-	-		0.667	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL19-AS1	HGNC	protein_coding		C	NM_019085		30934103	-1	no_errors	ENST00000563777	ensembl	human	known	70_37	rna	SNP	0.012	G
FBXL22	283807	genome.wustl.edu	37	15	63893570	63893570	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:63893570G>C	ENST00000360587.2	+	2	469	c.429G>C	c.(427-429)ccG>ccC	p.P143P	USP3-AS1_ENST00000560622.1_RNA|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000558831.1_RNA|FBXL22_ENST00000539570.3_Silent_p.P137P|USP3-AS1_ENST00000561191.1_RNA	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	143					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(4)	4						CCGTTGGACCGAAATCACCTC	0.711																																																	0													21.0	25.0	24.0					15																	63893570		2189	4260	6449	SO:0001819	synonymous_variant	283807			BC065833	CCDS10187.1, CCDS10187.2	15q22.1	2012-04-05			ENSG00000197361	ENSG00000197361		"""F-boxes / Leucine-rich repeats"""	27537	protein-coding gene	gene with protein product		609088				12477932	Standard	NM_203373		Approved	Fbl22, FLJ39626	uc002amn.4	Q6P050	OTTHUMG00000132905	ENST00000360587.2:c.429G>C	15.37:g.63893570G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	superfamily_F-box_dom_cyclin-like	p.P143	ENST00000360587.2	37	c.429	CCDS10187.2	15																																																																																			FBXL22	-	NULL		0.711	FBXL22-001	KNOWN	downstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	FBXL22	Uniprot_genename	protein_coding	OTTHUMT00000256412.4	G	NM_203373		63893570	+1	no_errors	ENST00000539570	ensembl	human	known	70_37	silent	SNP	0.000	C
FBXO11	80204	genome.wustl.edu	37	2	48050303	48050303	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:48050303G>C	ENST00000403359.3	-	12	1667	c.1595C>G	c.(1594-1596)tCa>tGa	p.S532*	FBXO11_ENST00000316377.4_Nonsense_Mutation_p.S448*|FBXO11_ENST00000434523.2_5'UTR|FBXO11_ENST00000402508.1_Nonsense_Mutation_p.S448*	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	532					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTCACTATTTGAGGTAATCCA	0.333			"""Mis, F, D"""		DLBCL																																			Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											108.0	101.0	103.0					2																	48050303		2202	4299	6501	SO:0001587	stop_gained	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1595C>G	2.37:g.48050303G>C	ENSP00000384823:p.Ser532*	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Nonsense_Mutation	SNP	pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.S532*	ENST00000403359.3	37	c.1595	CCDS54357.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.323139	0.98210	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-2.0084	19.7417	0.96234	0.0:0.0:1.0:0.0	.	.	.	.	X	448;532;448	.	ENSP00000323822:S448X	S	-	2	0	FBXO11	47903807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.665000	0.90641	0.650000	0.86243	TCA	FBXO11	-	superfamily_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1,tigrfam_Para_beta_helix_rpt-2		0.333	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3	G	NM_012167, NM_018693, NM_025133		48050303	-1	no_errors	ENST00000403359	ensembl	human	known	70_37	nonsense	SNP	1.000	C
FBXO21	23014	genome.wustl.edu	37	12	117610280	117610280	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:117610280C>G	ENST00000330622.5	-	7	1008	c.1009G>C	c.(1009-1011)Gaa>Caa	p.E337Q	FBXO21_ENST00000427718.2_Missense_Mutation_p.E337Q|FBXO21_ENST00000549689.1_5'Flank			O94952	FBX21_HUMAN	F-box protein 21	337					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GCTCACCCTTCTGCGCCTTGG	0.498																																					GBM(168;452 2038 13535 17701 43680)												0													124.0	109.0	114.0					12																	117610280		2203	4300	6503	SO:0001583	missense	23014			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1009G>C	12.37:g.117610280C>G	ENSP00000328187:p.Glu337Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom	p.E337Q	ENST00000330622.5	37	c.1009	CCDS9184.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.64|12.64	1.998603|1.998603	0.35226|0.35226	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622|ENST00000550180	T;T|.	0.49720|.	0.77;0.77|.	5.45|5.45	4.56|4.56	0.56223|0.56223	F-box domain, Skp2-like (1);|.	0.276441|.	0.41396|.	D|.	0.000897|.	T|T	0.44393|0.44393	0.1291|0.1291	L|L	0.45051|0.45051	1.395|1.395	0.31919|0.31919	N|N	0.613647|0.613647	B;B;B|.	0.22146|.	0.065;0.026;0.032|.	B;B;B|.	0.19391|.	0.022;0.025;0.008|.	T|T	0.50659|0.50659	-0.8802|-0.8802	10|5	0.17832|.	T|.	0.49|.	.|.	6.8487|6.8487	0.24003|0.24003	0.0:0.7035:0.152:0.1445|0.0:0.7035:0.152:0.1445	.|.	253;337;337|.	Q8IUQ5;O94952;O94952-1|.	.;FBX21_HUMAN;.|.	Q|T	337;253;253;337|280	ENSP00000414468:E337Q;ENSP00000328187:E337Q|.	ENSP00000257563:E253Q|.	E|R	-|-	1|2	0|0	FBXO21|FBXO21	116094663|116094663	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.764000|1.764000	0.38471|0.38471	2.579000|2.579000	0.87056|0.87056	0.655000|0.655000	0.94253|0.94253	GAA|AGA	FBXO21	-	superfamily_F-box_dom_cyclin-like		0.498	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO21	HGNC	protein_coding	OTTHUMT00000404409.1	C	NM_033624		117610280	-1	no_errors	ENST00000330622	ensembl	human	known	70_37	missense	SNP	0.932	G
FBXO40	51725	genome.wustl.edu	37	3	121345634	121345634	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:121345634C>G	ENST00000338040.4	+	4	2421	c.2007C>G	c.(2005-2007)ttC>ttG	p.F669L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	669					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CCTGTCCTTTCAACATTGTAG	0.488																																																	0													130.0	128.0	129.0					3																	121345634		2203	4300	6503	SO:0001583	missense	51725			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.2007C>G	3.37:g.121345634C>G	ENSP00000337510:p.Phe669Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF	p.F669L	ENST00000338040.4	37	c.2007	CCDS33835.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.527895	0.96446	.	.	ENSG00000163833	ENST00000338040	T	0.44482	0.92	6.17	6.17	0.99709	F-box domain, Skp2-like (1);	0.047718	0.85682	D	0.000000	T	0.64962	0.2646	M	0.66939	2.045	0.53005	D	0.999968	D	0.71674	0.998	D	0.80764	0.994	T	0.63761	-0.6564	10	0.66056	D	0.02	-21.9648	18.3732	0.90420	0.0:1.0:0.0:0.0	.	669	Q9UH90	FBX40_HUMAN	L	669	ENSP00000337510:F669L	ENSP00000337510:F669L	F	+	3	2	FBXO40	122828324	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.970000	0.63742	2.941000	0.99782	0.655000	0.94253	TTC	FBXO40	-	superfamily_F-box_dom_cyclin-like		0.488	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO40	HGNC	protein_coding	OTTHUMT00000355158.1	C	NM_016298		121345634	+1	no_errors	ENST00000338040	ensembl	human	known	70_37	missense	SNP	1.000	G
FBXO43	286151	genome.wustl.edu	37	8	101154311	101154311	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:101154311G>C	ENST00000428847.2	-	2	487	c.171C>G	c.(169-171)gtC>gtG	p.V57V		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	57					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ACTTGGAGTTGACAATTGGAG	0.413																																																	0													68.0	71.0	70.0					8																	101154311		1957	4150	6107	SO:0001819	synonymous_variant	286151			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.171C>G	8.37:g.101154311G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Znf_C6HC,superfamily_F-box_dom_cyclin-like,smart_Znf_C6HC	p.V57	ENST00000428847.2	37	c.171	CCDS47904.1	8																																																																																			FBXO43	-	NULL		0.413	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	HGNC	protein_coding	OTTHUMT00000380380.1	G	XM_209918		101154311	-1	no_errors	ENST00000428847	ensembl	human	known	70_37	silent	SNP	0.002	C
FBXO47	494188	genome.wustl.edu	37	17	37099097	37099097	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:37099097G>A	ENST00000378079.2	-	9	1216	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	339										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TACTAGCCATGAAACTGAAAC	0.393																																																	0													92.0	87.0	88.0					17																	37099097		2203	4300	6503	SO:0001819	synonymous_variant	494188				CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.1017C>T	17.37:g.37099097G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTZ4	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.F339	ENST00000378079.2	37	c.1017	CCDS32639.1	17																																																																																			FBXO47	-	NULL		0.393	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO47	HGNC	protein_coding	OTTHUMT00000444073.1	G	NM_001008777		37099097	-1	no_errors	ENST00000378079	ensembl	human	known	70_37	silent	SNP	1.000	A
FCGBP	8857	genome.wustl.edu	37	19	40364196	40364196	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:40364196G>A	ENST00000221347.6	-	31	14453	c.14446C>T	c.(14446-14448)Cgc>Tgc	p.R4816C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4816						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACTCACAGCGCCGCTCACAC	0.662																																																	0													31.0	34.0	33.0					19																	40364196		2203	4300	6503	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14446C>T	19.37:g.40364196G>A	ENSP00000221347:p.Arg4816Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.R4816C	ENST00000221347.6	37	c.14446	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314143	0.23908	.	.	ENSG00000090920	ENST00000221347	T	0.05382	3.45	5.04	1.63	0.23807	.	0.624433	0.14643	U	0.307064	T	0.16769	0.0403	M	0.80847	2.515	0.35075	D	0.762886	D	0.76494	0.999	P	0.57846	0.828	T	0.16335	-1.0406	10	0.51188	T	0.08	.	5.1837	0.15173	0.2373:0.0:0.6203:0.1423	.	4816	Q9Y6R7	FCGBP_HUMAN	C	4816	ENSP00000221347:R4816C	ENSP00000221347:R4816C	R	-	1	0	FCGBP	45056036	0.000000	0.05858	0.783000	0.31826	0.302000	0.27658	-0.061000	0.11693	0.240000	0.21263	0.313000	0.20887	CGC	FCGBP	-	smart_VWC_out		0.662	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40364196	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	missense	SNP	0.807	A
FCGBP	8857	genome.wustl.edu	37	19	40434171	40434171	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:40434171C>T	ENST00000221347.6	-	2	105	c.98G>A	c.(97-99)aGa>aAa	p.R33K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	33	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAATTCCTCTCTGCCAGTGTT	0.537																																																	0													65.0	60.0	61.0					19																	40434171		2203	4300	6503	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.98G>A	19.37:g.40434171C>T	ENSP00000221347:p.Arg33Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.R33K	ENST00000221347.6	37	c.98	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	0.421	-0.908048	0.02434	.	.	ENSG00000090920	ENST00000221347	T	0.18338	2.22	3.98	2.94	0.34122	.	0.209757	0.26991	U	0.021469	T	0.10508	0.0257	N	0.24115	0.695	0.09310	N	1	B	0.19073	0.033	B	0.13407	0.009	T	0.24728	-1.0152	10	0.27082	T	0.32	.	9.6256	0.39748	0.0:0.8979:0.0:0.1021	.	33	Q9Y6R7	FCGBP_HUMAN	K	33	ENSP00000221347:R33K	ENSP00000221347:R33K	R	-	2	0	FCGBP	45126011	0.305000	0.24481	0.009000	0.14445	0.002000	0.02628	3.406000	0.52637	1.255000	0.44051	0.655000	0.94253	AGA	FCGBP	-	NULL		0.537	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	C	NM_003890		40434171	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	missense	SNP	0.028	T
FCHSD1	89848	genome.wustl.edu	37	5	141020662	141020662	+	3'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:141020662G>C	ENST00000435817.2	-	0	2526				FCHSD1_ENST00000522783.1_3'UTR|FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1										FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGCTCCTGATTCCCAAGG	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	89848			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.*403C>G	5.37:g.141020662G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UX75|Q86Y77|Q9NXX8	RNA	SNP	-	NULL	ENST00000435817.2	37	NULL	CCDS47295.1	5																																																																																			FCHSD1	-	-		0.602	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	HGNC	protein_coding	OTTHUMT00000375282.2	G	NM_033449		141020662	-1	no_errors	ENST00000520465	ensembl	human	known	70_37	rna	SNP	1.000	C
FCRL5	83416	genome.wustl.edu	37	1	157490282	157490282	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:157490282G>A	ENST00000361835.3	-	12	2728	c.2571C>T	c.(2569-2571)ctC>ctT	p.L857L	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Silent_p.L857L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	857					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTGCTATGCTGAGCAGGCCCC	0.632																																																	0													24.0	25.0	25.0					1																	157490282		2195	4290	6485	SO:0001819	synonymous_variant	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2571C>T	1.37:g.157490282G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L857	ENST00000361835.3	37	c.2571	CCDS1165.1	1																																																																																			FCRL5	-	NULL		0.632	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	G	NM_031281		157490282	-1	no_errors	ENST00000356953	ensembl	human	known	70_37	silent	SNP	0.080	A
FCRL5	83416	genome.wustl.edu	37	1	157512838	157512838	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:157512838C>A	ENST00000361835.3	-	6	1091	c.934G>T	c.(934-936)Gaa>Taa	p.E312*	FCRL5_ENST00000368191.3_Nonsense_Mutation_p.E227*|FCRL5_ENST00000368189.3_Nonsense_Mutation_p.E312*|FCRL5_ENST00000356953.4_Nonsense_Mutation_p.E312*|FCRL5_ENST00000368190.3_Nonsense_Mutation_p.E312*	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	312	Ig-like C2-type 3.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGAGAATCTTCCTGGGTTTCA	0.512																																																	0													86.0	87.0	87.0					1																	157512838		2203	4300	6503	SO:0001587	stop_gained	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.934G>T	1.37:g.157512838C>A	ENSP00000354691:p.Glu312*	Somatic		WXS	Illumina HiSeq	Phase_IV	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Nonsense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E312*	ENST00000361835.3	37	c.934	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872444	0.72180	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	.	.	.	3.05	1.92	0.25849	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	4.4401	0.11570	0.0:0.1727:0.0:0.8273	.	.	.	.	X	312;312;312;227;312	.	ENSP00000349434:E312X	E	-	1	0	FCRL5	155779462	0.001000	0.12720	0.001000	0.08648	0.034000	0.12701	1.082000	0.30803	0.388000	0.25054	0.313000	0.20887	GAA	FCRL5	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.512	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	C	NM_031281		157512838	-1	no_errors	ENST00000356953	ensembl	human	known	70_37	nonsense	SNP	0.002	A
FCRL2	79368	genome.wustl.edu	37	1	157739743	157739743	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:157739743C>T	ENST00000361516.3	-	4	556	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000392274.3_Missense_Mutation_p.E170K	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	170	Ig-like C2-type 2.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTGTGTCTTCACTCCACACG	0.527																																																	0													77.0	79.0	78.0					1																	157739743		2203	4300	6503	SO:0001583	missense	79368			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.508G>A	1.37:g.157739743C>T	ENSP00000355157:p.Glu170Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E170K	ENST00000361516.3	37	c.508	CCDS1168.1	1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136193	0.37728	.	.	ENSG00000132704	ENST00000361516;ENST00000392274	T;T	0.03358	3.96;3.96	4.41	-0.0983	0.13629	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.753950	0.03962	N	0.290148	T	0.03305	0.0096	M	0.79258	2.445	0.09310	N	1	P;B;P	0.41313	0.745;0.224;0.538	P;B;B	0.46275	0.51;0.148;0.305	T	0.31833	-0.9929	10	0.49607	T	0.09	.	4.8199	0.13385	0.0:0.4202:0.3635:0.2163	.	170;170;170	B4E0W2;B4DVJ9;Q96LA5	.;.;FCRL2_HUMAN	K	170	ENSP00000355157:E170K;ENSP00000376100:E170K	ENSP00000355157:E170K	E	-	1	0	FCRL2	156006367	0.006000	0.16342	0.003000	0.11579	0.029000	0.11900	-0.261000	0.08694	-0.067000	0.12976	0.591000	0.81541	GAA	FCRL2	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.527	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	C	NM_030764		157739743	-1	no_errors	ENST00000361516	ensembl	human	known	70_37	missense	SNP	0.025	T
FCRL6	343413	genome.wustl.edu	37	1	159779272	159779272	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:159779272G>A	ENST00000368106.3	+	5	686	c.685G>A	c.(685-687)Gag>Aag	p.E229K	FCRL6_ENST00000321935.6_Missense_Mutation_p.E236K|FCRL6_ENST00000392235.3_Missense_Mutation_p.E134K|FCRL6_ENST00000339348.5_Missense_Mutation_p.E229K	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	229	Ig-like C2-type 3.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GCTCCTCTGTGAGGCACAGAG	0.607																																																	0													71.0	65.0	67.0					1																	159779272		2203	4300	6503	SO:0001583	missense	343413			AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.685G>A	1.37:g.159779272G>A	ENSP00000357086:p.Glu229Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E229K	ENST00000368106.3	37	c.685	CCDS30912.1	1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017706	0.35606	.	.	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000392235;ENST00000368106	T;T;T;T	0.03242	4.0;4.0;4.0;4.0	3.94	3.03	0.35002	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.209785	0.24130	N	0.041264	T	0.06781	0.0173	M	0.75615	2.305	0.09310	N	1	P;P;D;D	0.89917	0.917;0.75;1.0;0.999	P;B;D;D	0.77004	0.583;0.301;0.989;0.96	T	0.12142	-1.0559	9	.	.	.	.	7.5144	0.27592	0.1196:0.0:0.8804:0.0	.	229;134;229;236	Q6DN72-3;Q6DN72-4;Q6DN72;Q6DN72-2	.;.;FCRL6_HUMAN;.	K	236;229;134;229	ENSP00000320625:E236K;ENSP00000340949:E229K;ENSP00000376068:E134K;ENSP00000357086:E229K	.	E	+	1	0	FCRL6	158045896	1.000000	0.71417	0.505000	0.27651	0.013000	0.08279	1.731000	0.38135	0.990000	0.38787	-0.225000	0.12378	GAG	FCRL6	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.607	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL6	HGNC	protein_coding	OTTHUMT00000276853.1	G	NM_001004310		159779272	+1	no_errors	ENST00000368106	ensembl	human	known	70_37	missense	SNP	0.175	A
FCRL6	343413	genome.wustl.edu	37	1	159779317	159779317	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:159779317G>A	ENST00000368106.3	+	5	731	c.730G>A	c.(730-732)Gat>Aat	p.D244N	FCRL6_ENST00000321935.6_Missense_Mutation_p.D251N|FCRL6_ENST00000392235.3_Missense_Mutation_p.D149N|FCRL6_ENST00000339348.5_Missense_Mutation_p.D244N	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	244	Ig-like C2-type 3.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.D244N(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CTTCTACCTTGATGAGAAGAT	0.587																																																	1	Substitution - Missense(1)	ovary(1)											75.0	71.0	72.0					1																	159779317		2203	4300	6503	SO:0001583	missense	343413			AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.730G>A	1.37:g.159779317G>A	ENSP00000357086:p.Asp244Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D244N	ENST00000368106.3	37	c.730	CCDS30912.1	1	.	.	.	.	.	.	.	.	.	.	g	8.977	0.974361	0.18736	.	.	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000392235;ENST00000368106	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	3.91	-6.2	0.02072	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.142910	0.06898	N	0.805548	T	0.02533	0.0077	N	0.16307	0.4	0.09310	N	1	B;B;B;B	0.32573	0.001;0.376;0.058;0.081	B;B;B;B	0.35607	0.02;0.206;0.047;0.046	T	0.38436	-0.9661	9	.	.	.	.	6.3187	0.21204	0.6714:0.0:0.1878:0.1408	.	244;149;244;251	Q6DN72-3;Q6DN72-4;Q6DN72;Q6DN72-2	.;.;FCRL6_HUMAN;.	N	251;244;149;244	ENSP00000320625:D251N;ENSP00000340949:D244N;ENSP00000376068:D149N;ENSP00000357086:D244N	.	D	+	1	0	FCRL6	158045941	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.737000	0.04877	-1.251000	0.02494	-0.958000	0.02645	GAT	FCRL6	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.587	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL6	HGNC	protein_coding	OTTHUMT00000276853.1	G	NM_001004310		159779317	+1	no_errors	ENST00000368106	ensembl	human	known	70_37	missense	SNP	0.000	A
FEM1A	55527	genome.wustl.edu	37	19	4793205	4793205	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:4793205C>G	ENST00000269856.3	+	1	1478	c.1339C>G	c.(1339-1341)Cag>Gag	p.Q447E	AC005523.2_ENST00000601192.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000596170.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	447					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CTACGTGCTTCAGGACCGGGC	0.627																																																	0													81.0	92.0	88.0					19																	4793205		2203	4295	6498	SO:0001583	missense	55527			BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1339C>G	19.37:g.4793205C>G	ENSP00000269856:p.Gln447Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Q447E	ENST00000269856.3	37	c.1339	CCDS12135.1	19	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777112	0.49786	.	.	ENSG00000141965	ENST00000269856	T	0.65732	-0.17	5.07	5.07	0.68467	.	0.000000	0.64402	U	0.000001	T	0.63129	0.2485	L	0.59436	1.845	0.80722	D	1	P	0.42248	0.774	B	0.43331	0.416	T	0.60250	-0.7300	10	0.19147	T	0.46	-13.5183	18.4416	0.90669	0.0:1.0:0.0:0.0	.	447	Q9BSK4	FEM1A_HUMAN	E	447	ENSP00000269856:Q447E	ENSP00000269856:Q447E	Q	+	1	0	FEM1A	4744205	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	7.639000	0.83342	2.352000	0.79861	0.491000	0.48974	CAG	FEM1A	-	NULL		0.627	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1A	HGNC	protein_coding	OTTHUMT00000459000.1	C			4793205	+1	no_errors	ENST00000269856	ensembl	human	known	70_37	missense	SNP	1.000	G
FER1L4	80307	genome.wustl.edu	37	20	34164119	34164119	+	IGR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:34164119G>C								ERGIC3 (18714 upstream) : FER1L4 (5921 downstream)																							CCAGGAGCTTGATGGGCCGGT	0.527																																																	0																																										SO:0001628	intergenic_variant	80307																															20.37:g.34164119G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		20																																																																																			FER1L4	-	-	0	0.527					FER1L4	HGNC			G			34164119	-1	no_errors	ENST00000440443	ensembl	human	known	70_37	rna	SNP	1.000	C
FETUB	26998	genome.wustl.edu	37	3	186358435	186358435	+	Silent	SNP	G	G	C	rs544439289	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:186358435G>C	ENST00000265029.3	+	1	287	c.186G>C	c.(184-186)ctG>ctC	p.L62L	FETUB_ENST00000382136.3_Silent_p.L62L|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Silent_p.L62L|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000450521.1_Silent_p.L62L	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	62	Cystatin fetuin-B-type 1. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GCTATGTGCTGAGACTCAACC	0.577																																																	0													142.0	151.0	148.0					3																	186358435		2203	4300	6503	SO:0001819	synonymous_variant	26998			AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.186G>C	3.37:g.186358435G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.L62	ENST00000265029.3	37	c.186	CCDS3279.1	3																																																																																			FETUB	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.577	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FETUB	HGNC	protein_coding	OTTHUMT00000344679.1	G	NM_014375		186358435	+1	no_errors	ENST00000265029	ensembl	human	known	70_37	silent	SNP	0.997	C
FGL1	2267	genome.wustl.edu	37	8	17726235	17726235	+	Missense_Mutation	SNP	C	C	G	rs575067637		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:17726235C>G	ENST00000398056.2	-	9	1416	c.601G>C	c.(601-603)Gag>Cag	p.E201Q	FGL1_ENST00000398054.1_Missense_Mutation_p.E201Q|FGL1_ENST00000518650.1_Missense_Mutation_p.E201Q|FGL1_ENST00000381840.2_Missense_Mutation_p.E201Q|FGL1_ENST00000522444.1_Missense_Mutation_p.E201Q|FGL1_ENST00000427924.1_Missense_Mutation_p.E201Q|FGL1_ENST00000381841.2_Missense_Mutation_p.E201Q			Q08830	FGL1_HUMAN	fibrinogen-like 1	201	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		ATATTCAACTCGTAGAAATTC	0.383																																																	0													37.0	41.0	39.0					8																	17726235		2203	4299	6502	SO:0001583	missense	2267			D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.601G>C	8.37:g.17726235C>G	ENSP00000381133:p.Glu201Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.E201Q	ENST00000398056.2	37	c.601	CCDS6004.1	8	.	.	.	.	.	.	.	.	.	.	C	0.120	-1.126552	0.01770	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	4.37	3.49	0.39957	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.447646	0.25397	N	0.030976	T	0.45155	0.1328	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.007	B;B;B	0.19391	0.012;0.008;0.025	T	0.31166	-0.9953	10	0.16420	T	0.52	.	9.5695	0.39420	0.0:0.5225:0.3992:0.0783	.	171;201;201	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	Q	201;201;171;201;201;201;201;201;201	ENSP00000381133:E201Q;ENSP00000429757:E201Q;ENSP00000371263:E201Q;ENSP00000401952:E201Q;ENSP00000381131:E201Q;ENSP00000371262:E201Q;ENSP00000428430:E201Q	ENSP00000221204:E201Q	E	-	1	0	FGL1	17770515	0.958000	0.32768	0.065000	0.19835	0.017000	0.09413	1.050000	0.30404	1.159000	0.42565	-0.378000	0.06908	GAG	FGL1	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.383	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FGL1	HGNC	protein_coding	OTTHUMT00000375254.1	C	NM_004467		17726235	-1	no_errors	ENST00000221204	ensembl	human	known	70_37	missense	SNP	0.113	G
FHAD1	114827	genome.wustl.edu	37	1	15708573	15708573	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:15708573G>C	ENST00000375998.4	+	29	4006	c.4006G>C	c.(4006-4008)Gag>Cag	p.E1336Q	FHAD1_ENST00000314740.8_Missense_Mutation_p.E589Q|FHAD1_ENST00000417793.1_Missense_Mutation_p.E1300Q|FHAD1_ENST00000471347.1_3'UTR|FHAD1_ENST00000375999.3_Missense_Mutation_p.E1336Q|FHAD1_ENST00000358897.4_Missense_Mutation_p.E1336Q			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	1336										skin(1)|stomach(1)	2						GGCAAAGCTGGAGGATGATAT	0.552																																																	0													78.0	80.0	80.0					1																	15708573		692	1591	2283	SO:0001583	missense	114827			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.4006G>C	1.37:g.15708573G>C	ENSP00000365166:p.Glu1336Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E1336Q	ENST00000375998.4	37	c.4006		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.147786|4.147786	0.78001|0.78001	.|.	.|.	ENSG00000142621|ENSG00000142621	ENST00000358897;ENST00000417793;ENST00000375999;ENST00000375998;ENST00000529606;ENST00000314740;ENST00000314668|ENST00000444385	T;T;T;T;T;T;T|.	0.51325|.	0.71;0.71;0.76;0.71;0.79;0.8;0.74|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|.	.|.	.|.	.|.	T|T	0.74291|0.74291	0.3697|0.3697	M|M	0.72118|0.72118	2.19|2.19	0.39277|0.39277	D|D	0.964496|0.964496	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.87578|.	0.998;0.951|.	T|T	0.74612|0.74612	-0.3607|-0.3607	9|5	0.20046|.	T|.	0.44|.	-21.7952|-21.7952	15.8698|15.8698	0.79108|0.79108	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	589;1336|.	B7WPP2;B1AJZ9|.	.;FHAD1_HUMAN|.	Q|C	1336;1300;1336;1336;607;589;571|654	ENSP00000351770:E1336Q;ENSP00000407615:E1300Q;ENSP00000365167:E1336Q;ENSP00000365166:E1336Q;ENSP00000434909:E607Q;ENSP00000322979:E589Q;ENSP00000318812:E571Q|.	ENSP00000318812:E571Q|.	E|W	+|+	1|3	0|0	FHAD1|FHAD1	15581160|15581160	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	4.791000|4.791000	0.62460|0.62460	2.811000|2.811000	0.96726|0.96726	0.655000|0.655000	0.94253|0.94253	GAG|TGG	FHAD1	-	NULL		0.552	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	FHAD1	HGNC	protein_coding	OTTHUMT00000393400.2	G	NM_052929		15708573	+1	no_errors	ENST00000375999	ensembl	human	known	70_37	missense	SNP	1.000	C
FIGN	55137	genome.wustl.edu	37	2	164466975	164466975	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:164466975G>A	ENST00000333129.3	-	3	1681	c.1367C>T	c.(1366-1368)tCt>tTt	p.S456F	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	456					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTCGTCCACAGAGTGGTTGGA	0.537																																																	0													117.0	116.0	116.0					2																	164466975		2137	4246	6383	SO:0001583	missense	55137			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1367C>T	2.37:g.164466975G>A	ENSP00000333836:p.Ser456Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.S456F	ENST00000333129.3	37	c.1367	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470167	0.63625	.	.	ENSG00000182263	ENST00000333129	D	0.92699	-3.09	5.9	5.9	0.94986	.	0.226091	0.46758	D	0.000261	D	0.91116	0.7203	N	0.19112	0.55	0.80722	D	1	D	0.64830	0.994	P	0.52672	0.706	D	0.92115	0.5699	10	0.72032	D	0.01	-10.708	20.2723	0.98479	0.0:0.0:1.0:0.0	.	456	Q5HY92	FIGN_HUMAN	F	456	ENSP00000333836:S456F	ENSP00000333836:S456F	S	-	2	0	FIGN	164175221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.793000	0.96121	0.563000	0.77884	TCT	FIGN	-	NULL		0.537	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	G	NM_018086		164466975	-1	no_errors	ENST00000333129	ensembl	human	known	70_37	missense	SNP	1.000	A
FIP1L1	81608	genome.wustl.edu	37	4	54245406	54245406	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:54245406G>C	ENST00000337488.6	+	3	339	c.145G>C	c.(145-147)Gaa>Caa	p.E49Q	FIP1L1_ENST00000306932.6_Missense_Mutation_p.E34Q|FIP1L1_ENST00000507922.1_Missense_Mutation_p.E34Q|FIP1L1_ENST00000507166.1_Missense_Mutation_p.E49Q|FIP1L1_ENST00000510668.1_3'UTR|FIP1L1_ENST00000358575.5_Missense_Mutation_p.E34Q	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	49	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AAATGAAGTTGAAAGGCCAGA	0.294			T	PDGFRA	idiopathic hypereosinophilic syndrome																																			Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0													129.0	135.0	133.0					4																	54245406		2203	4300	6503	SO:0001583	missense	81608			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.145G>C	4.37:g.54245406G>C	ENSP00000336752:p.Glu49Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	pfam_Fip1	p.E49Q	ENST00000337488.6	37	c.145	CCDS3491.1	4	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783321	0.70222	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T	0.79454	-1.27	5.08	5.08	0.68730	.	0.091003	0.47852	D	0.000209	T	0.77691	0.4168	L	0.29908	0.895	0.40219	D	0.977719	P;D;P;P	0.54964	0.944;0.969;0.925;0.944	P;P;P;P	0.53649	0.731;0.634;0.644;0.57	T	0.80721	-0.1256	10	0.59425	D	0.04	-20.2753	16.611	0.84883	0.0:0.0:1.0:0.0	.	34;34;49;34	G3XAD6;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	Q	49;34;34;34;49	ENSP00000423325:E49Q	ENSP00000302993:E34Q	E	+	1	0	FIP1L1	53940163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.377000	0.59562	2.529000	0.85273	0.655000	0.94253	GAA	FIP1L1	-	NULL		0.294	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	FIP1L1	HGNC	protein_coding	OTTHUMT00000250602.1	G	NM_030917		54245406	+1	no_errors	ENST00000337488	ensembl	human	known	70_37	missense	SNP	1.000	C
FIS1	51024	genome.wustl.edu	37	7	100883427	100883427	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:100883427C>G	ENST00000223136.4	-	4	437	c.357G>C	c.(355-357)aaG>aaC	p.K119N	FIS1_ENST00000442303.1_3'UTR|CLDN15_ENST00000401528.1_5'Flank|CLDN15_ENST00000308344.5_5'Flank|CLDN15_ENST00000433422.1_5'Flank|FIS1_ENST00000474120.1_3'UTR|FIS1_ENST00000482199.1_5'UTR	NM_016068.2	NP_057152.2	Q9Y3D6	FIS1_HUMAN	fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)	119					calcium-mediated signaling using intracellular calcium source (GO:0035584)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|mitochondrion morphogenesis (GO:0070584)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|peroxisome fission (GO:0016559)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|release of cytochrome c from mitochondria (GO:0001836)	integral component of mitochondrial outer membrane (GO:0031307)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|protein complex (GO:0043234)	receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					TGTCACCTTTCTTCATGGCCT	0.587																																																	0													139.0	140.0	140.0					7																	100883427		2038	4181	6219	SO:0001583	missense	51024			AF151893	CCDS43626.1	7q22.1	2012-10-01	2006-04-04	2006-01-24	ENSG00000214253	ENSG00000214253			21689	protein-coding gene	gene with protein product	"""CGI-135 protein"""	609003	"""tetratricopeptide repeat domain 11"", ""fission 1 (mitochondrial outer membrane) homolog (yeast)"""	TTC11		14996942, 16010987	Standard	NM_016068		Approved	CGI-135, H_NH0132A01.6, Fis1	uc003uyj.4	Q9Y3D6	OTTHUMG00000157106	ENST00000223136.4:c.357G>C	7.37:g.100883427C>G	ENSP00000223136:p.Lys119Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BTP3	Missense_Mutation	SNP	pirsf_Tetratricopeptide_rpt_11_Fis1	p.K119N	ENST00000223136.4	37	c.357	CCDS43626.1	7	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914208	0.52546	.	.	ENSG00000214253	ENST00000223136	.	.	.	5.06	4.18	0.49190	Tetratricopeptide-like helical (1);	0.000000	0.64402	U	0.000009	T	0.59128	0.2171	L	0.59436	1.845	0.44677	D	0.997666	B	0.22211	0.066	B	0.31337	0.128	T	0.55405	-0.8146	9	0.33141	T	0.24	.	11.128	0.48330	0.0:0.9091:0.0:0.0909	.	119	Q9Y3D6	FIS1_HUMAN	N	119	.	ENSP00000223136:K119N	K	-	3	2	FIS1	100670147	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.886000	0.63149	1.156000	0.42514	0.556000	0.70494	AAG	FIS1	-	pirsf_Tetratricopeptide_rpt_11_Fis1		0.587	FIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIS1	HGNC	protein_coding	OTTHUMT00000347449.1	C	NM_016068		100883427	-1	no_errors	ENST00000223136	ensembl	human	known	70_37	missense	SNP	1.000	G
FKBP15	23307	genome.wustl.edu	37	9	115932861	115932861	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:115932861C>G	ENST00000238256.3	-	25	2824	c.2707G>C	c.(2707-2709)Gag>Cag	p.E903Q		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	903					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TCCTCCAGCTCAAACTCTCTC	0.448																																																	0													199.0	193.0	195.0					9																	115932861		1942	4153	6095	SO:0001583	missense	23307			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.2707G>C	9.37:g.115932861C>G	ENSP00000238256:p.Glu903Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.E903Q	ENST00000238256.3	37	c.2707	CCDS48007.1	9	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833118	0.71258	.	.	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.27256	1.68;1.69	5.86	5.86	0.93980	.	.	.	.	.	T	0.44561	0.1299	M	0.70275	2.135	0.36003	D	0.83749	P;P	0.51537	0.946;0.911	P;B	0.52672	0.706;0.311	T	0.54430	-0.8295	9	0.72032	D	0.01	-6.7448	17.674	0.88225	0.0:1.0:0.0:0.0	.	484;903	B4DVS2;Q5T1M5	.;FKB15_HUMAN	Q	928;903	ENSP00000416158:E928Q;ENSP00000238256:E903Q	ENSP00000238256:E903Q	E	-	1	0	FKBP15	114972682	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.220000	0.65267	2.777000	0.95525	0.655000	0.94253	GAG	FKBP15	-	NULL		0.448	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	HGNC	protein_coding		C	NM_015258		115932861	-1	no_errors	ENST00000238256	ensembl	human	known	70_37	missense	SNP	1.000	G
FKBPL	63943	genome.wustl.edu	37	6	32097077	32097077	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:32097077C>G	ENST00000375156.3	-	2	751	c.481G>C	c.(481-483)Gag>Cag	p.E161Q	ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	161					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										AAGCATTTCTCTATGAGCTCC	0.577																																																	0													178.0	187.0	184.0					6																	32097077		2203	4300	6503	SO:0001583	missense	63943			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.481G>C	6.37:g.32097077C>G	ENSP00000364298:p.Glu161Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E161Q	ENST00000375156.3	37	c.481	CCDS4738.1	6	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295715	0.81025	.	.	ENSG00000204315	ENST00000375156	D	0.85861	-2.04	5.38	5.38	0.77491	.	0.000000	0.45126	D	0.000388	D	0.84465	0.5478	N	0.24115	0.695	0.47374	D	0.999407	D	0.76494	0.999	D	0.66716	0.946	D	0.86806	0.1995	10	0.72032	D	0.01	-16.9716	16.6778	0.85284	0.0:1.0:0.0:0.0	.	161	Q9UIM3	FKBPL_HUMAN	Q	161	ENSP00000364298:E161Q	ENSP00000364298:E161Q	E	-	1	0	FKBPL	32205055	0.993000	0.37304	0.963000	0.40424	0.994000	0.84299	4.840000	0.62817	2.804000	0.96469	0.462000	0.41574	GAG	FKBPL	-	NULL		0.577	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBPL	HGNC	protein_coding	OTTHUMT00000076221.2	C			32097077	-1	no_errors	ENST00000375156	ensembl	human	known	70_37	missense	SNP	0.994	G
FLG	2312	genome.wustl.edu	37	1	152279231	152279231	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:152279231C>T	ENST00000368799.1	-	3	8166	c.8131G>A	c.(8131-8133)Gga>Aga	p.G2711R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2711	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGCCTGTCCGTGGGCTGAC	0.572									Ichthyosis																																								0													6.0	9.0	8.0					1																	152279231		1448	3562	5010	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8131G>A	1.37:g.152279231C>T	ENSP00000357789:p.Gly2711Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.G2711R	ENST00000368799.1	37	c.8131	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482734	0.26598	.	.	ENSG00000143631	ENST00000368799	T	0.07688	3.17	4.13	-6.3	0.02007	.	.	.	.	.	T	0.00906	0.0030	N	0.12887	0.27	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.48647	-0.9017	9	0.14252	T	0.57	.	5.9829	0.19417	0.0:0.2326:0.2501:0.5173	.	2711	P20930	FILA_HUMAN	R	2711	ENSP00000357789:G2711R	ENSP00000357789:G2711R	G	-	1	0	FLG	150545855	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.758000	0.04766	-1.357000	0.02180	-0.683000	0.03753	GGA	FLG	-	NULL		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152279231	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	T
FLG	2312	genome.wustl.edu	37	1	152279801	152279801	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:152279801C>T	ENST00000368799.1	-	3	7596	c.7561G>A	c.(7561-7563)Gaa>Aaa	p.E2521K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2521	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGATTGTTCATCGTTACGA	0.587									Ichthyosis																																								0													356.0	332.0	340.0					1																	152279801		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7561G>A	1.37:g.152279801C>T	ENSP00000357789:p.Glu2521Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.E2521K	ENST00000368799.1	37	c.7561	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	6.884	0.532640	0.13127	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	1.97	0.921	0.19403	.	.	.	.	.	T	0.00695	0.0023	M	0.81682	2.555	0.09310	N	1	P	0.41232	0.743	B	0.26094	0.066	T	0.48479	-0.9032	9	0.22706	T	0.39	.	6.0279	0.19665	0.0:0.6712:0.3288:0.0	.	2521	P20930	FILA_HUMAN	K	2521	ENSP00000357789:E2521K	ENSP00000357789:E2521K	E	-	1	0	FLG	150546425	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.634000	0.05477	0.118000	0.18165	0.306000	0.20318	GAA	FLG	-	NULL		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152279801	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	T
FLG2	388698	genome.wustl.edu	37	1	152327330	152327330	+	Missense_Mutation	SNP	C	C	T	rs374118925		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:152327330C>T	ENST00000388718.5	-	3	3004	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	978	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.E978Q(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCTGACTCATGTTGTCCA	0.493																																																	1	Substitution - Missense(1)	lung(1)						C	LYS/GLU	0,4406		0,0,2203	260.0	262.0	262.0		2932	3.2	0.1	1		262	1,8599	1.2+/-3.3	0,1,4299	no	missense	FLG2	NM_001014342.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	978/2392	152327330	1,13005	2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2932G>A	1.37:g.152327330C>T	ENSP00000373370:p.Glu978Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.E978K	ENST00000388718.5	37	c.2932	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580198	0.28180	0.0	1.16E-4	ENSG00000143520	ENST00000388718	T	0.03801	3.8	4.17	3.2	0.36748	.	.	.	.	.	T	0.00967	0.0032	N	0.14661	0.345	0.09310	N	1	B	0.23058	0.079	B	0.23574	0.047	T	0.44620	-0.9316	9	0.10377	T	0.69	0.044	9.9483	0.41623	0.0:0.7943:0.2057:0.0	.	978	Q5D862	FILA2_HUMAN	K	978	ENSP00000373370:E978K	ENSP00000373370:E978K	E	-	1	0	FLG2	150593954	0.000000	0.05858	0.136000	0.22124	0.018000	0.09664	0.085000	0.14912	2.160000	0.67779	0.561000	0.74099	GAG	FLG2	-	NULL		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	C	NM_001014342		152327330	-1	no_errors	ENST00000388718	ensembl	human	known	70_37	missense	SNP	0.392	T
FLI1	2313	genome.wustl.edu	37	11	128675282	128675282	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:128675282G>A	ENST00000527786.2	+	6	1166	c.677G>A	c.(676-678)aGa>aAa	p.R226K	FLI1_ENST00000344954.6_Missense_Mutation_p.R193K|FLI1_ENST00000534087.2_Missense_Mutation_p.R193K|FLI1_ENST00000525560.1_Missense_Mutation_p.R33K|FLI1_ENST00000281428.8_Missense_Mutation_p.R160K	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	226					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GACTCAGTCAGAAGAGGAGCT	0.393			T	EWSR1	Ewing sarcoma																																			Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	0													70.0	68.0	69.0					11																	128675282		1843	4080	5923	SO:0001583	missense	2313			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.677G>A	11.37:g.128675282G>A	ENSP00000433488:p.Arg226Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.R226K	ENST00000527786.2	37	c.677	CCDS44768.1	11	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513088	0.64522	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.23147	1.92;2.53;2.52;2.53;2.52	5.77	5.77	0.91146	.	0.506212	0.20193	N	0.097262	T	0.34774	0.0909	M	0.65975	2.015	0.47037	D	0.999294	B;B;B	0.32731	0.001;0.378;0.382	B;B;B	0.32624	0.001;0.067;0.149	T	0.14896	-1.0456	10	0.66056	D	0.02	.	20.3473	0.98799	0.0:0.0:1.0:0.0	.	226;33;160	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	K	33;193;226;193;160	ENSP00000437124:R33K;ENSP00000339627:R193K;ENSP00000399985:R226K;ENSP00000432950:R193K;ENSP00000281428:R160K	ENSP00000281428:R160K	R	+	2	0	FLI1	128180492	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	5.394000	0.66285	2.884000	0.98904	0.655000	0.94253	AGA	FLI1	-	NULL		0.393	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLI1	HGNC	protein_coding	OTTHUMT00000386226.2	G	NM_002017		128675282	+1	no_errors	ENST00000429175	ensembl	human	known	70_37	missense	SNP	1.000	A
PRR36	80164	genome.wustl.edu	37	19	7938348	7938348	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:7938348C>T	ENST00000539422.1	-	2	389	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	CTD-3193O13.11_ENST00000597156.1_lincRNA|CTD-3193O13.9_ENST00000593356.1_5'UTR	NM_001190467.1	NP_001177396.1																					TGGTCCCGCTCGGGGAGCAGA	0.672																																																	0																																										SO:0001583	missense	80164																														ENST00000539422.1:c.227G>A	19.37:g.7938348C>T	ENSP00000438970:p.Arg76Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R76Q	ENST00000539422.1	37	c.227		19	.	.	.	.	.	.	.	.	.	.	C	3.986	-0.005427	0.07773	.	.	ENSG00000183248	ENST00000539422	.	.	.	2.9	-0.976	0.10286	.	.	.	.	.	T	0.14787	0.0357	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25813	-1.0121	5	0.14252	T	0.57	.	2.1134	0.03708	0.2525:0.421:0.0:0.3265	.	.	.	.	Q	76	.	ENSP00000438970:R76Q	R	-	2	0	AC010336.1	7844348	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.190000	0.09615	0.097000	0.17492	0.305000	0.20034	CGA	FLJ22184	-	NULL		0.672	CTD-3193O13.9-201	KNOWN	basic|appris_principal	protein_coding	FLJ22184	Uniprot_genename	protein_coding		C			7938348	-1	no_errors	ENST00000539422	ensembl	human	known	70_37	missense	SNP	0.000	T
LINC00957	255031	genome.wustl.edu	37	7	44079656	44079656	+	lincRNA	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:44079656G>C	ENST00000441052.1	+	0	341				RASA4CP_ENST00000446874.1_RNA					long intergenic non-protein coding RNA 957																		ccttatccatgagatggaact	0.622																																																	0																																												0			BC014556		7p13	2013-06-04			ENSG00000235314	ENSG00000235314		"""Long non-coding RNAs"""	22332	non-coding RNA	RNA, long non-coding							Standard	NR_015401		Approved				OTTHUMG00000155351		7.37:g.44079656G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000441052.1	37	NULL		7																																																																																			AC017116.8	-	-		0.622	LINC00957-001	KNOWN	basic	lincRNA	FLJ35390	Clone_based_vega_gene	lincRNA	OTTHUMT00000339589.1	G			44079656	+1	no_errors	ENST00000416824	ensembl	human	known	70_37	rna	SNP	0.008	C
FLNC	2318	genome.wustl.edu	37	7	128486083	128486083	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:128486083C>T	ENST00000325888.8	+	22	4091	c.3830C>T	c.(3829-3831)gCa>gTa	p.A1277V	FLNC_ENST00000346177.6_Missense_Mutation_p.A1277V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1277					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACTGTGGATGCAAGATCCCTA	0.627																																																	0													41.0	45.0	44.0					7																	128486083		2082	4212	6294	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3830C>T	7.37:g.128486083C>T	ENSP00000327145:p.Ala1277Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.A1277V	ENST00000325888.8	37	c.3830	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.604855	0.96626	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85484	-1.99;-1.99	5.07	5.07	0.68467	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.057199	0.64402	D	0.000001	D	0.91348	0.7271	M	0.89478	3.035	0.80722	D	1	P;P	0.42584	0.748;0.784	P;P	0.49561	0.615;0.595	D	0.92751	0.6216	10	0.62326	D	0.03	.	18.4511	0.90704	0.0:1.0:0.0:0.0	.	1277;1277	Q14315-2;Q14315	.;FLNC_HUMAN	V	1277	ENSP00000327145:A1277V;ENSP00000344002:A1277V	ENSP00000327145:A1277V	A	+	2	0	FLNC	128273319	1.000000	0.71417	0.997000	0.53966	0.843000	0.47879	5.730000	0.68546	2.360000	0.80028	0.555000	0.69702	GCA	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	C			128486083	+1	no_errors	ENST00000325888	ensembl	human	known	70_37	missense	SNP	1.000	T
FLT1	2321	genome.wustl.edu	37	13	28886206	28886206	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:28886206C>G	ENST00000282397.4	-	26	3667	c.3416G>C	c.(3415-3417)aGa>aCa	p.R1139T	FLT1_ENST00000543394.1_Missense_Mutation_p.R162T|FLT1_ENST00000540678.1_Missense_Mutation_p.R357T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTGGGTCTCTGTGCCAGCA	0.408																																																	0													94.0	91.0	92.0					13																	28886206		2203	4300	6503	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3416G>C	13.37:g.28886206C>G	ENSP00000282397:p.Arg1139Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.R1139T	ENST00000282397.4	37	c.3416	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457618	0.43634	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	D;D;D	0.89196	-2.48;-2.48;-2.48	6.08	0.637	0.17735	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.551790	0.20032	N	0.100684	T	0.77219	0.4098	N	0.16066	0.365	0.80722	D	1	B	0.18741	0.03	B	0.20577	0.03	T	0.64761	-0.6331	10	0.38643	T	0.18	.	9.163	0.37035	0.0:0.5541:0.0:0.4459	.	1139	P17948	VGFR1_HUMAN	T	1139;162;357	ENSP00000282397:R1139T;ENSP00000437841:R162T;ENSP00000443311:R357T	ENSP00000282397:R1139T	R	-	2	0	FLT1	27784206	0.522000	0.26266	0.999000	0.59377	0.992000	0.81027	0.176000	0.16782	0.149000	0.19098	-0.290000	0.09829	AGA	FLT1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.408	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	C			28886206	-1	no_errors	ENST00000282397	ensembl	human	known	70_37	missense	SNP	0.963	G
FLT1	2321	genome.wustl.edu	37	13	28901605	28901605	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:28901605G>C	ENST00000282397.4	-	20	3041	c.2790C>G	c.(2788-2790)ctC>ctG	p.L930L	FLT1_ENST00000540678.1_Silent_p.L148L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	930	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTACCTTGTTGAGAAAAAATA	0.373																																																	0													77.0	75.0	75.0					13																	28901605		2203	4300	6503	SO:0001819	synonymous_variant	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2790C>G	13.37:g.28901605G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.L930	ENST00000282397.4	37	c.2790	CCDS9330.1	13																																																																																			FLT1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.373	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	G			28901605	-1	no_errors	ENST00000282397	ensembl	human	known	70_37	silent	SNP	0.997	C
FLT4	2324	genome.wustl.edu	37	5	180043928	180043928	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:180043928C>G	ENST00000261937.6	-	22	3146	c.3068G>C	c.(3067-3069)aGa>aCa	p.R1023T	FLT4_ENST00000502649.1_Missense_Mutation_p.R1023T|FLT4_ENST00000393347.3_Missense_Mutation_p.R1023T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1023	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCATCCCTCTGGCCACCTG	0.607																																					Colon(97;1075 1466 27033 27547 35871)												0													102.0	97.0	98.0					5																	180043928		2203	4300	6503	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3068G>C	5.37:g.180043928C>G	ENSP00000261937:p.Arg1023Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.R1023T	ENST00000261937.6	37	c.3068	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075805	0.76415	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000512795	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.04	3.15	0.36227	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.85159	0.5633	L	0.33792	1.035	0.58432	D	0.999999	P;P	0.49559	0.875;0.925	P;D	0.64410	0.833;0.925	D	0.86231	0.1637	9	0.87932	D	0	.	13.5017	0.61459	0.1571:0.8429:0.0:0.0	.	1023;1023	E9PD35;P35916	.;VGFR3_HUMAN	T	1023;1023;1023;61	ENSP00000261937:R1023T;ENSP00000377016:R1023T;ENSP00000426057:R1023T;ENSP00000421535:R61T	ENSP00000261937:R1023T	R	-	2	0	FLT4	179976534	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.754000	0.62191	1.023000	0.39654	0.561000	0.74099	AGA	FLT4	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.607	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	C			180043928	-1	no_errors	ENST00000261937	ensembl	human	known	70_37	missense	SNP	1.000	G
FLT4	2324	genome.wustl.edu	37	5	180043956	180043956	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:180043956G>A	ENST00000261937.6	-	22	3118	c.3040C>T	c.(3040-3042)Ctt>Ttt	p.L1014F	FLT4_ENST00000502649.1_Missense_Mutation_p.L1014F|FLT4_ENST00000393347.3_Missense_Mutation_p.L1014F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1014	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAGCAGACAAGATCTTCCATG	0.627																																					Colon(97;1075 1466 27033 27547 35871)												0													91.0	82.0	85.0					5																	180043956		2203	4300	6503	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3040C>T	5.37:g.180043956G>A	ENSP00000261937:p.Leu1014Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.L1014F	ENST00000261937.6	37	c.3040	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794786	0.70452	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000512795	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	4.15	4.15	0.48705	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.92854	0.7727	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93805	0.7104	9	0.87932	D	0	.	16.983	0.86333	0.0:0.0:1.0:0.0	.	1014;1014	E9PD35;P35916	.;VGFR3_HUMAN	F	1014;1014;1014;52	ENSP00000261937:L1014F;ENSP00000377016:L1014F;ENSP00000426057:L1014F;ENSP00000421535:L52F	ENSP00000261937:L1014F	L	-	1	0	FLT4	179976562	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	5.203000	0.65174	2.330000	0.79161	0.561000	0.74099	CTT	FLT4	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.627	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	G			180043956	-1	no_errors	ENST00000261937	ensembl	human	known	70_37	missense	SNP	1.000	A
FMO5	2330	genome.wustl.edu	37	1	146672800	146672800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:146672800G>A	ENST00000254090.4	-	7	1505	c.1117C>T	c.(1117-1119)Cag>Tag	p.Q373*	RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Nonsense_Mutation_p.Q373*|FMO5_ENST00000369272.3_Intron	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	373						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CCTAAGGGCTGAATCAAGCCT	0.438																																																	0													105.0	103.0	104.0					1																	146672800		2203	4300	6503	SO:0001587	stop_gained	2330			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1117C>T	1.37:g.146672800G>A	ENSP00000254090:p.Gln373*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBG1|C9JJD1|Q8IV22	Nonsense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1	p.Q373*	ENST00000254090.4	37	c.1117	CCDS926.1	1	.	.	.	.	.	.	.	.	.	.	.	41	9.096702	0.99064	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-17.4739	18.3732	0.90420	0.0:0.0:1.0:0.0	.	.	.	.	X	373	.	ENSP00000254090:Q373X	Q	-	1	0	FMO5	145139424	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.986000	0.88173	2.941000	0.99782	0.655000	0.94253	CAG	FMO5	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase		0.438	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	HGNC	protein_coding	OTTHUMT00000040373.2	G	NM_001461		146672800	-1	no_errors	ENST00000254090	ensembl	human	known	70_37	nonsense	SNP	1.000	A
FMO5	2330	genome.wustl.edu	37	1	146672888	146672888	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:146672888G>C	ENST00000254090.4	-	7	1417	c.1029C>G	c.(1027-1029)gtC>gtG	p.V343V	RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Silent_p.V343V|FMO5_ENST00000369272.3_Intron	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	343						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TGACCACTTTGACGGAATCTT	0.453																																																	0													106.0	104.0	105.0					1																	146672888		2203	4300	6503	SO:0001819	synonymous_variant	2330			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1029C>G	1.37:g.146672888G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBG1|C9JJD1|Q8IV22	Silent	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1	p.V343	ENST00000254090.4	37	c.1029	CCDS926.1	1																																																																																			FMO5	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_2		0.453	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	HGNC	protein_coding	OTTHUMT00000040373.2	G	NM_001461		146672888	-1	no_errors	ENST00000254090	ensembl	human	known	70_37	silent	SNP	0.997	C
FN1	2335	genome.wustl.edu	37	2	216298069	216298069	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:216298069C>G	ENST00000359671.1	-	3	658	c.393G>C	c.(391-393)ggG>ggC	p.G131G	FN1_ENST00000432072.2_Silent_p.G131G|FN1_ENST00000357867.4_Silent_p.G131G|FN1_ENST00000443816.1_Silent_p.G131G|FN1_ENST00000426059.1_Silent_p.G131G|FN1_ENST00000336916.4_Silent_p.G131G|FN1_ENST00000356005.4_Silent_p.G131G|FN1_ENST00000323926.6_Silent_p.G131G|FN1_ENST00000354785.4_Silent_p.G131G|FN1_ENST00000446046.1_Silent_p.G131G|FN1_ENST00000345488.5_Silent_p.G131G|AC012462.1_ENST00000412951.1_RNA|FN1_ENST00000357009.2_Silent_p.G131G|FN1_ENST00000346544.3_Silent_p.G131G|FN1_ENST00000421182.1_Silent_p.G131G			P02751	FINC_HUMAN	fibronectin 1	131	Fibrin- and heparin-binding 1.|Fibronectin type-I 2. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AGCTTATTCTCCCTCGCCCAG	0.438																																																	0													160.0	146.0	151.0					2																	216298069		2203	4300	6503	SO:0001819	synonymous_variant	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.393G>C	2.37:g.216298069C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.G131	ENST00000359671.1	37	c.393		2																																																																																			FN1	-	pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1		0.438	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		C	NM_212476		216298069	-1	no_errors	ENST00000354785	ensembl	human	known	70_37	silent	SNP	0.171	G
FNDC3B	64778	genome.wustl.edu	37	3	172052756	172052757	+	Frame_Shift_Ins	INS	-	-	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:172052756_172052757insA	ENST00000336824.4	+	15	1763_1764	c.1664_1665insA	c.(1663-1668)ggaaaafs	p.GK555fs	FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.GK555fs|FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.GK555fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	555	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AATACGGAAGGAAAAAGCTGTC	0.436																																																	0																																										SO:0001589	frameshift_variant	64778			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1669dupA	3.37:g.172052761_172052761dupA	ENSP00000338523:p.Gly555fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S557fs	ENST00000336824.4	37	c.1664_1665	CCDS3217.1	3																																																																																			FNDC3B	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.436	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	-	NM_022763		172052757	+1	no_errors	ENST00000336824	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.994	A
FNDC4	64838	genome.wustl.edu	37	2	27717491	27717491	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:27717491G>A	ENST00000264703.3	-	2	447	c.56C>T	c.(55-57)tCg>tTg	p.S19L	GCKR_ENST00000424318.2_5'Flank|GCKR_ENST00000264717.2_5'Flank	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	19						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGGCACCAGCGAAGCCATGTC	0.637																																																	0													22.0	21.0	22.0					2																	27717491		2203	4300	6503	SO:0001583	missense	64838			AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"""Fibronectin type III domain containing"""	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787	ENST00000264703.3:c.56C>T	2.37:g.27717491G>A	ENSP00000264703:p.Ser19Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W560	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S19L	ENST00000264703.3	37	c.56	CCDS1756.1	2	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075247	0.55646	.	.	ENSG00000115226	ENST00000264703	T	0.07114	3.22	5.14	4.25	0.50352	.	0.931621	0.08949	N	0.870377	T	0.04952	0.0133	N	0.03608	-0.345	0.24359	N	0.994883	B	0.19073	0.033	B	0.12156	0.007	T	0.21211	-1.0252	10	0.66056	D	0.02	-35.5252	10.7149	0.46006	0.0934:0.0:0.9066:0.0	.	19	Q9H6D8	FNDC4_HUMAN	L	19	ENSP00000264703:S19L	ENSP00000264703:S19L	S	-	2	0	FNDC4	27570995	0.999000	0.42202	0.991000	0.47740	0.871000	0.50021	3.725000	0.54970	2.395000	0.81488	0.456000	0.33151	TCG	FNDC4	-	NULL		0.637	FNDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC4	HGNC	protein_coding	OTTHUMT00000215031.1	G	NM_022823		27717491	-1	no_errors	ENST00000264703	ensembl	human	known	70_37	missense	SNP	0.991	A
FNIP2	57600	genome.wustl.edu	37	4	159789974	159789974	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:159789974C>G	ENST00000264433.6	+	13	2261	c.2186C>G	c.(2185-2187)tCt>tGt	p.S729C	FNIP2_ENST00000379346.3_Missense_Mutation_p.S752C	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	729	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TCTCCAGAGTCTGACTTTGAA	0.557																																																	0													64.0	68.0	67.0					4																	159789974		1871	4102	5973	SO:0001583	missense	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2186C>G	4.37:g.159789974C>G	ENSP00000264433:p.Ser729Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	NULL	p.S752C	ENST00000264433.6	37	c.2255	CCDS47155.1	4	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502196	0.85176	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.48201	0.83;0.82	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72162	0.3426	M	0.81942	2.565	0.51767	D	0.999935	D	0.89917	1.0	D	0.91635	0.999	T	0.72620	-0.4238	9	.	.	.	.	19.7773	0.96399	0.0:1.0:0.0:0.0	.	729	Q9P278	FNIP2_HUMAN	C	729;752	ENSP00000264433:S729C;ENSP00000368651:S752C	.	S	+	2	0	FNIP2	160009424	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	6.775000	0.75018	2.746000	0.94184	0.655000	0.94253	TCT	FNIP2	-	NULL		0.557	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP2	HGNC	protein_coding	OTTHUMT00000366602.1	C	NM_020840		159789974	+1	no_errors	ENST00000379346	ensembl	human	known	70_37	missense	SNP	1.000	G
FOXA2	3170	genome.wustl.edu	37	20	22563544	22563544	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:22563544C>G	ENST00000377115.4	-	3	499	c.318G>C	c.(316-318)ttG>ttC	p.L106F	FOXA2_ENST00000419308.2_Missense_Mutation_p.L112F	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	106					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GGCTGGGACTCAAGTGCGGCC	0.776																																																	0													5.0	6.0	5.0					20																	22563544		1847	3800	5647	SO:0001583	missense	3170			AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.318G>C	20.37:g.22563544C>G	ENSP00000366319:p.Leu106Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WUW4|Q96DF7	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.L112F	ENST00000377115.4	37	c.336	CCDS13147.1	20	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121518	0.77436	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993	T;T;T	0.22743	1.94;1.94;1.94	4.65	4.65	0.58169	Fork-head N-terminal (1);	0.224065	0.29260	U	0.012666	T	0.45637	0.1352	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79784	0.939;0.993	T	0.40079	-0.9582	10	0.41790	T	0.15	.	12.9801	0.58559	0.0:0.8371:0.1629:0.0	.	106;112	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	F	106;106;112	ENSP00000366319:L106F;ENSP00000400341:L106F;ENSP00000315955:L112F	ENSP00000315955:L112F	L	-	3	2	FOXA2	22511544	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.006000	0.49529	2.126000	0.65437	0.586000	0.80456	TTG	FOXA2	-	pfam_Fork-head_N		0.776	FOXA2-001	KNOWN	basic|CCDS	protein_coding	FOXA2	HGNC	protein_coding	OTTHUMT00000078289.1	C			22563544	-1	no_errors	ENST00000319993	ensembl	human	known	70_37	missense	SNP	1.000	G
FOXD4L1	200350	genome.wustl.edu	37	2	114257652	114257652	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:114257652G>A	ENST00000306507.5	+	1	992	c.819G>A	c.(817-819)tcG>tcA	p.S273S		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	273	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						TACTGCTCTCGGCCCCCGCCT	0.706																																																	0													21.0	26.0	24.0					2																	114257652		1519	3030	4549	SO:0001819	synonymous_variant	200350			AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.819G>A	2.37:g.114257652G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWN1|B9EGF3	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S273	ENST00000306507.5	37	c.819	CCDS2117.1	2																																																																																			FOXD4L1	-	NULL		0.706	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L1	HGNC	protein_coding	OTTHUMT00000254148.1	G	NM_012184		114257652	+1	no_errors	ENST00000306507	ensembl	human	known	70_37	silent	SNP	0.028	A
FOXL2	668	genome.wustl.edu	37	3	138665213	138665213	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:138665213C>T	ENST00000330315.3	-	1	769	c.352G>A	c.(352-354)Gag>Aag	p.E118K	RP11-548O1.3_ENST00000495287.1_lincRNA|C3orf72_ENST00000383165.3_5'Flank	NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	118					apoptotic DNA fragmentation (GO:0006309)|cell differentiation (GO:0030154)|embryonic eye morphogenesis (GO:0048048)|extraocular skeletal muscle development (GO:0002074)|female somatic sex determination (GO:0019101)|granulosa cell differentiation (GO:0060014)|menstruation (GO:0042703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	cysteine-type endopeptidase regulator activity involved in apoptotic process (GO:0043028)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin conjugating enzyme binding (GO:0031624)			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						CCGCCGCCCTCGCGCGGCACC	0.612			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""																																	Dom	yes		3	3q23	668	forkhead box L2	yes	O	0			GRCh37	CM082718	FOXL2	M							47.0	48.0	48.0					3																	138665213		2203	4300	6503	SO:0001583	missense	668			AF301906	CCDS3105.1	3q23	2008-04-10			ENSG00000183770	ENSG00000183770		"""Forkhead boxes"""	1092	protein-coding gene	gene with protein product		605597		BPES		1941972	Standard	NM_023067		Approved	BPES1	uc003esw.3	P58012	OTTHUMG00000159889	ENST00000330315.3:c.352G>A	3.37:g.138665213C>T	ENSP00000333188:p.Glu118Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4ZGJ3	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E118K	ENST00000330315.3	37	c.352	CCDS3105.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.083596	0.94050	.	.	ENSG00000183770	ENST00000330315;ENST00000542203	D	0.95412	-3.7	4.07	4.07	0.47477	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	U	0.000000	D	0.95978	0.8690	L	0.39467	1.215	0.80722	D	1	D	0.64830	0.994	D	0.63488	0.915	D	0.96857	0.9629	10	0.87932	D	0	.	16.6195	0.84926	0.0:1.0:0.0:0.0	.	118	P58012	FOXL2_HUMAN	K	118	ENSP00000333188:E118K	ENSP00000333188:E118K	E	-	1	0	FOXL2	140147903	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.254000	0.78329	1.970000	0.57323	0.505000	0.49811	GAG	FOXL2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head		0.612	FOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXL2	HGNC	protein_coding	OTTHUMT00000357999.1	C			138665213	-1	no_errors	ENST00000330315	ensembl	human	known	70_37	missense	SNP	1.000	T
FOXM1	2305	genome.wustl.edu	37	12	2968012	2968012	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:2968012G>C	ENST00000359843.3	-	9	2152	c.2084C>G	c.(2083-2085)tCa>tGa	p.S695*	FOXM1_ENST00000361953.3_Nonsense_Mutation_p.S680*|ITFG2_ENST00000545509.1_Intron|AC005841.1_ENST00000382678.3_5'Flank|FOXM1_ENST00000342628.2_Nonsense_Mutation_p.S733*|Y_RNA_ENST00000410561.1_RNA	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	695					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GTCTATATCTGAGGGAGAAGA	0.557																																																	0													57.0	61.0	59.0					12																	2968012		2203	4300	6503	SO:0001587	stop_gained	2305			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.2084C>G	12.37:g.2968012G>C	ENSP00000352901:p.Ser695*	Somatic		WXS	Illumina HiSeq	Phase_IV	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Nonsense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S733*	ENST00000359843.3	37	c.2198	CCDS8515.1	12	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403820	0.83230	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	.	.	.	4.72	4.72	0.59763	.	0.844873	0.10313	N	0.689750	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	8.0492	0.30568	0.1111:0.0:0.8889:0.0	.	.	.	.	X	733;680;695	.	ENSP00000342307:S733X	S	-	2	0	FOXM1	2838273	0.467000	0.25831	0.014000	0.15608	0.008000	0.06430	2.192000	0.42649	2.445000	0.82738	0.561000	0.74099	TCA	FOXM1	-	NULL		0.557	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	HGNC	protein_coding	OTTHUMT00000398272.1	G	NM_021953		2968012	-1	no_errors	ENST00000342628	ensembl	human	known	70_37	nonsense	SNP	0.007	C
FOXRED2	80020	genome.wustl.edu	37	22	36889694	36889694	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:36889694C>T	ENST00000397224.4	-	8	1874	c.1781G>A	c.(1780-1782)cGa>cAa	p.R594Q	FOXRED2_ENST00000216187.6_Missense_Mutation_p.R594Q|FOXRED2_ENST00000366463.3_Missense_Mutation_p.R146Q|FOXRED2_ENST00000397223.4_Missense_Mutation_p.R594Q	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	594					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ATAGAAGCTTCGCAAATCGGT	0.517																																																	0													63.0	62.0	63.0					22																	36889694		2203	4300	6503	SO:0001583	missense	80020			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1781G>A	22.37:g.36889694C>T	ENSP00000380401:p.Arg594Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.R594Q	ENST00000397224.4	37	c.1781	CCDS13929.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.569995	0.96540	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000366463;ENST00000397223	T;T;T;T	0.55760	2.02;2.02;0.5;2.02	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.72479	2.2	0.80722	D	1	D	0.76494	0.999	P	0.54060	0.741	T	0.72017	-0.4417	10	0.72032	D	0.01	-7.8924	18.457	0.90724	0.0:1.0:0.0:0.0	.	594	Q8IWF2	FXRD2_HUMAN	Q	594;594;146;594	ENSP00000380401:R594Q;ENSP00000216187:R594Q;ENSP00000382543:R146Q;ENSP00000380400:R594Q	ENSP00000216187:R594Q	R	-	2	0	FOXRED2	35219640	1.000000	0.71417	0.972000	0.41901	0.972000	0.66771	7.167000	0.77562	2.350000	0.79820	0.650000	0.86243	CGA	FOXRED2	-	NULL		0.517	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	HGNC	protein_coding	OTTHUMT00000104098.2	C	NM_024955		36889694	-1	no_errors	ENST00000216187	ensembl	human	known	70_37	missense	SNP	1.000	T
FRAS1	80144	genome.wustl.edu	37	4	79385678	79385678	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:79385678G>C	ENST00000264895.6	+	49	7410	c.6970G>C	c.(6970-6972)Gag>Cag	p.E2324Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2324					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCGGGTGCAGGAGGGCATGAG	0.507																																																	0													124.0	120.0	121.0					4																	79385678		2093	4228	6321	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.6970G>C	4.37:g.79385678G>C	ENSP00000264895:p.Glu2324Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.E2324Q	ENST00000264895.6	37	c.6970	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.17|16.17	3.048229|3.048229	0.55110|0.55110	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.58797|.	0.31|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.113557|.	0.64402|.	D|.	0.000019|.	T|T	0.81749|0.81749	0.4888|0.4888	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.66716|.	0.946|.	T|T	0.82168|0.82168	-0.0591|-0.0591	10|5	0.54805|.	T|.	0.06|.	.|.	19.3615|19.3615	0.94440|0.94440	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2324|.	E9PHH6|.	.|.	Q|A	2324|552	ENSP00000264895:E2324Q|.	ENSP00000264895:E2324Q|.	E|G	+|+	1|2	0|0	FRAS1|FRAS1	79604702|79604702	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.223000|0.223000	0.24884|0.24884	9.642000|9.642000	0.98461|0.98461	2.586000|2.586000	0.87340|0.87340	0.650000|0.650000	0.86243|0.86243	GAG|GGA	FRAS1	-	NULL		0.507	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		G			79385678	+1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	1.000	C
FRAS1	80144	genome.wustl.edu	37	4	79461938	79461938	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:79461938C>G	ENST00000264895.6	+	74	12139	c.11699C>G	c.(11698-11700)tCa>tGa	p.S3900*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3896					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCGTCCCTGTCACAGACTGGG	0.493																																																	0													50.0	57.0	55.0					4																	79461938		2003	4182	6185	SO:0001587	stop_gained	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11699C>G	4.37:g.79461938C>G	ENSP00000264895:p.Ser3900*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.S3900*	ENST00000264895.6	37	c.11699	CCDS54771.1	4	.	.	.	.	.	.	.	.	.	.	C	42	9.522067	0.99195	.	.	ENSG00000138759	ENST00000264895	.	.	.	6.17	6.17	0.99709	.	0.330716	0.32608	N	0.005880	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	3900	.	ENSP00000264895:S3900X	S	+	2	0	FRAS1	79680962	0.996000	0.38824	0.654000	0.29608	0.007000	0.05969	4.587000	0.60991	2.941000	0.99782	0.655000	0.94253	TCA	FRAS1	-	NULL		0.493	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		C			79461938	+1	no_errors	ENST00000264895	ensembl	human	known	70_37	nonsense	SNP	0.990	G
FRAS1	80144	genome.wustl.edu	37	4	79461991	79461991	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:79461991C>G	ENST00000264895.6	+	74	12192	c.11752C>G	c.(11752-11754)Ctg>Gtg	p.L3918V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3914					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCTTCTACTTCTGGTGTTTTT	0.498																																																	0													59.0	66.0	63.0					4																	79461991		1946	4143	6089	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11752C>G	4.37:g.79461991C>G	ENSP00000264895:p.Leu3918Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.L3918V	ENST00000264895.6	37	c.11752	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.46|13.46	2.243586|2.243586	0.39697|0.39697	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.52526|.	0.66|.	6.17|6.17	2.43|2.43	0.29744|0.29744	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.48114|0.48114	0.1482|0.1482	L|L	0.31294|0.31294	0.92|0.92	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.23904|0.23904	-1.0175|-1.0175	10|5	0.59425|.	D|.	0.04|.	.|.	8.9857|8.9857	0.35992|0.35992	0.0:0.7175:0.109:0.1735|0.0:0.7175:0.109:0.1735	.|.	3918|.	E9PHH6|.	.|.	V|C	3918|2146	ENSP00000264895:L3918V|.	ENSP00000264895:L3918V|.	L|S	+|+	1|2	2|0	FRAS1|FRAS1	79681015|79681015	0.986000|0.986000	0.35501|0.35501	0.814000|0.814000	0.32528|0.32528	0.160000|0.160000	0.22226|0.22226	2.571000|2.571000	0.45990|0.45990	0.439000|0.439000	0.26476|0.26476	0.655000|0.655000	0.94253|0.94253	CTG|TCT	FRAS1	-	NULL		0.498	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		C			79461991	+1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	0.977	G
FREM2	341640	genome.wustl.edu	37	13	39262212	39262212	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:39262212G>A	ENST00000280481.7	+	1	947	c.731G>A	c.(730-732)aGa>aAa	p.R244K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	244					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGAGGAGCCAGAGAGGGAGGC	0.652																																																	0													39.0	45.0	43.0					13																	39262212		2196	4297	6493	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.731G>A	13.37:g.39262212G>A	ENSP00000280481:p.Arg244Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.R244K	ENST00000280481.7	37	c.731	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	0	-2.630188	0.00115	.	.	ENSG00000150893	ENST00000280481	T	0.18016	2.24	5.46	3.7	0.42460	.	0.585417	0.19176	N	0.120809	T	0.10165	0.0249	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.34229	-0.9837	10	0.06099	T	0.92	.	12.3919	0.55362	0.0:0.3253:0.6747:0.0	.	244	Q5SZK8	FREM2_HUMAN	K	244	ENSP00000280481:R244K	ENSP00000280481:R244K	R	+	2	0	FREM2	38160212	0.351000	0.24887	0.008000	0.14137	0.004000	0.04260	0.082000	0.14847	0.645000	0.30675	-0.150000	0.13652	AGA	FREM2	-	NULL		0.652	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	G	NM_207361		39262212	+1	no_errors	ENST00000280481	ensembl	human	known	70_37	missense	SNP	0.001	A
FRMD4B	23150	genome.wustl.edu	37	3	69230376	69230376	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:69230376G>A	ENST00000398540.3	-	21	2608	c.2525C>T	c.(2524-2526)tCa>tTa	p.S842L	FRMD4B_ENST00000542259.1_Missense_Mutation_p.S788L|FRMD4B_ENST00000478263.1_Missense_Mutation_p.S494L	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	842					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		ATAGTGGGCTGAGGACCGGTA	0.507																																																	0													65.0	63.0	64.0					3																	69230376		1977	4157	6134	SO:0001583	missense	23150			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.2525C>T	3.37:g.69230376G>A	ENSP00000381549:p.Ser842Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TAI3	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.S842L	ENST00000398540.3	37	c.2525	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659463	0.67586	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	D;D	0.86562	-2.14;-2.14	5.83	4.96	0.65561	.	0.364572	0.29002	N	0.013446	D	0.84415	0.5467	L	0.56769	1.78	0.09310	N	1	B;P	0.46064	0.02;0.872	B;B	0.38327	0.014;0.271	T	0.79172	-0.1913	10	0.72032	D	0.01	-1.1683	14.7912	0.69844	0.0691:0.0:0.9309:0.0	.	686;842	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	L	842;788;494	ENSP00000381549:S842L;ENSP00000437658:S788L	ENSP00000381549:S842L	S	-	2	0	FRMD4B	69313066	0.998000	0.40836	0.250000	0.24296	0.995000	0.86356	5.607000	0.67648	1.468000	0.48064	0.591000	0.81541	TCA	FRMD4B	-	NULL		0.507	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	HGNC	protein_coding	OTTHUMT00000352111.1	G			69230376	-1	no_errors	ENST00000398540	ensembl	human	known	70_37	missense	SNP	0.074	A
FRMD4B	23150	genome.wustl.edu	37	3	69230520	69230520	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:69230520G>C	ENST00000398540.3	-	21	2464	c.2381C>G	c.(2380-2382)tCa>tGa	p.S794*	FRMD4B_ENST00000542259.1_Nonsense_Mutation_p.S740*|FRMD4B_ENST00000478263.1_Nonsense_Mutation_p.S446*	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	794					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTGACTCTTTGAGTAAACACC	0.443																																																	0													75.0	74.0	75.0					3																	69230520		1931	4130	6061	SO:0001587	stop_gained	23150			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.2381C>G	3.37:g.69230520G>C	ENSP00000381549:p.Ser794*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TAI3	Nonsense_Mutation	SNP	pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.S794*	ENST00000398540.3	37	c.2381	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.845183	0.97881	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	.	.	.	5.83	2.9	0.33743	.	1.135210	0.06359	N	0.711415	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	0.0937	4.0975	0.09998	0.0805:0.1098:0.4969:0.3127	.	.	.	.	X	794;740;446	.	ENSP00000381549:S794X	S	-	2	0	FRMD4B	69313210	0.032000	0.19561	0.001000	0.08648	0.949000	0.60115	2.217000	0.42880	0.794000	0.33899	0.591000	0.81541	TCA	FRMD4B	-	NULL		0.443	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	HGNC	protein_coding	OTTHUMT00000352111.1	G			69230520	-1	no_errors	ENST00000398540	ensembl	human	known	70_37	nonsense	SNP	0.009	C
FRMD4B	23150	genome.wustl.edu	37	3	69360490	69360490	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:69360490C>G	ENST00000398540.3	-	3	330	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	FRMD4B_ENST00000542259.1_Missense_Mutation_p.E29Q	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	83	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TCCAGCAACTCTCTTGCTAGA	0.373																																																	0													60.0	58.0	59.0					3																	69360490		1831	4084	5915	SO:0001583	missense	23150			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.247G>C	3.37:g.69360490C>G	ENSP00000381549:p.Glu83Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TAI3	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.E83Q	ENST00000398540.3	37	c.247	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684310	0.88639	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000473029;ENST00000460709;ENST00000459638;ENST00000497880	T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.49	5.49	0.81192	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.200581	0.45361	D	0.000374	D	0.83289	0.5222	L	0.42581	1.335	0.54753	D	0.999984	D;P	0.89917	1.0;0.545	D;B	0.79108	0.992;0.435	T	0.77680	-0.2497	10	0.16420	T	0.52	-23.4965	18.5154	0.90934	0.0:1.0:0.0:0.0	.	188;83	Q6PEW6;Q9Y2L6	.;FRM4B_HUMAN	Q	83;29;29;29;29;29	ENSP00000381549:E83Q;ENSP00000437658:E29Q;ENSP00000418373:E29Q;ENSP00000418023:E29Q;ENSP00000417550:E29Q;ENSP00000417765:E29Q	ENSP00000381549:E83Q	E	-	1	0	FRMD4B	69443180	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.069000	0.76755	2.736000	0.93811	0.655000	0.94253	GAG	FRMD4B	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain		0.373	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	HGNC	protein_coding	OTTHUMT00000352111.1	C			69360490	-1	no_errors	ENST00000398540	ensembl	human	known	70_37	missense	SNP	1.000	G
FRS3	10817	genome.wustl.edu	37	6	41738419	41738419	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:41738419G>A	ENST00000373018.3	-	7	1668	c.1417C>T	c.(1417-1419)Ctg>Ttg	p.L473L	FRS3_ENST00000259748.2_Silent_p.L473L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	473					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCGGGGCAGAGCTCTCTGC	0.632																																																	0													102.0	96.0	98.0					6																	41738419		2203	4300	6503	SO:0001819	synonymous_variant	10817			AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1417C>T	6.37:g.41738419G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3D5	Silent	SNP	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.L473	ENST00000373018.3	37	c.1417	CCDS4860.1	6																																																																																			FRS3	-	NULL		0.632	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRS3	HGNC	protein_coding	OTTHUMT00000040532.2	G	NM_006653		41738419	-1	no_errors	ENST00000259748	ensembl	human	known	70_37	silent	SNP	1.000	A
FRYL	285527	genome.wustl.edu	37	4	48588685	48588685	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:48588685C>G	ENST00000503238.1	-	16	1700	c.1701G>C	c.(1699-1701)ttG>ttC	p.L567F	FRYL_ENST00000507711.1_Missense_Mutation_p.L567F|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Missense_Mutation_p.L273F|FRYL_ENST00000537810.1_Missense_Mutation_p.L567F|FRYL_ENST00000358350.4_Missense_Mutation_p.L567F			O94915	FRYL_HUMAN	FRY-like	567					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CGTCAGGAATCAACCTTGGAA	0.343																																																	0													136.0	128.0	131.0					4																	48588685		1839	4096	5935	SO:0001583	missense	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1701G>C	4.37:g.48588685C>G	ENSP00000426064:p.Leu567Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L567F	ENST00000503238.1	37	c.1701	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490701	0.44249	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T;T	0.72282	3.53;3.53;3.53;3.53;-0.64	5.74	5.74	0.90152	Armadillo-type fold (1);	0.000000	0.64402	U	0.000020	T	0.76414	0.3984	L	0.43152	1.355	0.80722	D	1	D;P	0.69078	0.997;0.589	D;P	0.79108	0.992;0.459	T	0.74106	-0.3772	10	0.36615	T	0.2	.	10.3421	0.43884	0.0:0.8549:0.0:0.1451	.	567;567	F2Z2S2;O94915	.;FRYL_HUMAN	F	567;567;567;567;273	ENSP00000426064:L567F;ENSP00000351113:L567F;ENSP00000441114:L567F;ENSP00000421584:L567F;ENSP00000425592:L273F	ENSP00000351113:L567F	L	-	3	2	FRYL	48283442	0.974000	0.33945	1.000000	0.80357	0.806000	0.45545	0.180000	0.16860	2.702000	0.92279	0.655000	0.94253	TTG	FRYL	-	superfamily_ARM-type_fold		0.343	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	C			48588685	-1	no_errors	ENST00000358350	ensembl	human	known	70_37	missense	SNP	1.000	G
FSCN1	6624	genome.wustl.edu	37	7	5632933	5632933	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:5632933C>G	ENST00000382361.3	+	1	480	c.366C>G	c.(364-366)ttC>ttG	p.F122L	FSCN1_ENST00000340250.6_Missense_Mutation_p.F101L	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	122					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		TGTCCTGCTTCGCGCAGACGG	0.672																																																	0													24.0	22.0	22.0					7																	5632933		2198	4288	6486	SO:0001583	missense	6624			U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.366C>G	7.37:g.5632933C>G	ENSP00000371798:p.Phe122Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.F122L	ENST00000382361.3	37	c.366	CCDS5342.1	7	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218135	0.79464	.	.	ENSG00000075618	ENST00000340250;ENST00000382361	T;T	0.20881	2.04;2.04	3.9	3.9	0.45041	Fascin domain (1);Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	M	0.88450	2.955	0.58432	D	0.999994	D	0.89917	1.0	D	0.79108	0.992	T	0.63959	-0.6519	10	0.87932	D	0	4.0E-4	14.4684	0.67499	0.0:1.0:0.0:0.0	.	122	Q16658	FSCN1_HUMAN	L	101;122	ENSP00000339729:F101L;ENSP00000371798:F122L	ENSP00000339729:F101L	F	+	3	2	FSCN1	5599459	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.819000	0.39022	1.729000	0.51567	0.462000	0.41574	TTC	FSCN1	-	pfam_Fascin-domain,superfamily_Actin_cross-linking		0.672	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN1	HGNC	protein_coding	OTTHUMT00000207153.3	C	NM_003088		5632933	+1	no_errors	ENST00000382361	ensembl	human	known	70_37	missense	SNP	1.000	G
FSCN1	6624	genome.wustl.edu	37	7	5632988	5632988	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:5632988C>G	ENST00000382361.3	+	1	535	c.421C>G	c.(421-423)Cag>Gag	p.Q141E	FSCN1_ENST00000340250.6_Missense_Mutation_p.Q120E	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	141					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CATGCACCCTCAGGTCAACAT	0.701																																																	0													42.0	34.0	37.0					7																	5632988		2202	4298	6500	SO:0001583	missense	6624			U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.421C>G	7.37:g.5632988C>G	ENSP00000371798:p.Gln141Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.Q141E	ENST00000382361.3	37	c.421	CCDS5342.1	7	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328834	0.81690	.	.	ENSG00000075618	ENST00000340250;ENST00000382361	T;T	0.55052	0.54;1.16	3.9	2.93	0.34026	Actin cross-linking (1);	0.000000	0.64402	D	0.000001	T	0.66538	0.2799	M	0.86651	2.83	0.58432	D	0.999999	D	0.63880	0.993	P	0.53988	0.739	T	0.74103	-0.3773	10	0.87932	D	0	-0.052	10.8006	0.46487	0.1901:0.8099:0.0:0.0	.	141	Q16658	FSCN1_HUMAN	E	120;141	ENSP00000339729:Q120E;ENSP00000371798:Q141E	ENSP00000339729:Q120E	Q	+	1	0	FSCN1	5599514	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.483000	0.60264	1.729000	0.51567	0.462000	0.41574	CAG	FSCN1	-	superfamily_Actin_cross-linking		0.701	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN1	HGNC	protein_coding	OTTHUMT00000207153.3	C	NM_003088		5632988	+1	no_errors	ENST00000382361	ensembl	human	known	70_37	missense	SNP	1.000	G
FSCN1	6624	genome.wustl.edu	37	7	5632993	5632993	+	Silent	SNP	C	C	G	rs546819317		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:5632993C>G	ENST00000382361.3	+	1	540	c.426C>G	c.(424-426)gtC>gtG	p.V142V	FSCN1_ENST00000340250.6_Silent_p.V121V	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	142					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		ACCCTCAGGTCAACATCTACA	0.701																																																	0													41.0	34.0	36.0					7																	5632993		2202	4298	6500	SO:0001819	synonymous_variant	6624			U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.426C>G	7.37:g.5632993C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Silent	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.V142	ENST00000382361.3	37	c.426	CCDS5342.1	7																																																																																			FSCN1	-	superfamily_Actin_cross-linking		0.701	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN1	HGNC	protein_coding	OTTHUMT00000207153.3	C	NM_003088		5632993	+1	no_errors	ENST00000382361	ensembl	human	known	70_37	silent	SNP	0.997	G
FSD1L	83856	genome.wustl.edu	37	9	108226568	108226568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:108226568C>T	ENST00000481272.1	+	3	282	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	FSD1L_ENST00000484973.1_Nonsense_Mutation_p.Q23*|FSD1L_ENST00000480279.1_3'UTR|FSD1L_ENST00000495708.1_Nonsense_Mutation_p.Q55*|FSD1L_ENST00000374716.4_Nonsense_Mutation_p.Q23*|FSD1L_ENST00000394926.3_Nonsense_Mutation_p.Q23*|FSD1L_ENST00000539376.1_5'UTR|FSD1L_ENST00000374710.3_Nonsense_Mutation_p.Q23*	NM_001145313.1	NP_001138785.1	Q9BXM9	FSD1L_HUMAN	fibronectin type III and SPRY domain containing 1-like	55										NS(1)|endometrium(1)	2						TGATGAAATTCAGAACTTTAT	0.294																																																	0													71.0	62.0	65.0					9																	108226568		692	1580	2272	SO:0001587	stop_gained	83856			AF316830	CCDS6765.2, CCDS47999.1, CCDS6765.3, CCDS75870.1	9q31	2013-02-11	2006-03-10	2006-03-10	ENSG00000106701	ENSG00000106701		"""Fibronectin type III domain containing"""	13753	protein-coding gene	gene with protein product		609829	"""cystatin and DUF19 domain containing 1"", ""coiled-coil domain containing 10"""	CSDUFD1, CCDC10, FSD1NL, FSD1CL		11267680	Standard	XM_005252254		Approved		uc004bcq.2	Q9BXM9	OTTHUMG00000020426	ENST00000481272.1:c.163C>T	9.37:g.108226568C>T	ENSP00000417492:p.Gln55*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A338|A6NKH7|B7Z5S6|B7Z5W3|Q5T879|Q5T880	Nonsense_Mutation	SNP	superfamily_FH2_actin-bd,smart_Bbox_C	p.Q23*	ENST00000481272.1	37	c.67	CCDS47999.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.365163	0.95877	.	.	ENSG00000106701	ENST00000495708;ENST00000374716;ENST00000374710;ENST00000481272;ENST00000484973;ENST00000394926	.	.	.	5.05	5.05	0.67936	.	0.193204	0.33534	U	0.004802	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	17.5278	0.87805	0.0:1.0:0.0:0.0	.	.	.	.	X	55;23;23;55;23;23	.	ENSP00000363842:Q23X	Q	+	1	0	FSD1L	107266389	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.828000	0.69307	2.506000	0.84524	0.585000	0.79938	CAG	FSD1L	-	superfamily_FH2_actin-bd,smart_Bbox_C		0.294	FSD1L-007	NOVEL	basic|CCDS	protein_coding	FSD1L	HGNC	protein_coding	OTTHUMT00000349935.1	C	NM_207647		108226568	+1	no_errors	ENST00000374716	ensembl	human	known	70_37	nonsense	SNP	1.000	T
FSD2	123722	genome.wustl.edu	37	15	83455623	83455623	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:83455623C>T	ENST00000334574.8	-	2	701	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	FSD2_ENST00000541889.1_Missense_Mutation_p.E174K			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	174										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TCAGCAGCTTCTTCTTCATCC	0.483																																																	0													131.0	129.0	130.0					15																	83455623		2010	4182	6192	SO:0001583	missense	123722			AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.520G>A	15.37:g.83455623C>T	ENSP00000335651:p.Glu174Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVG1|B7ZM02	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin	p.E174K	ENST00000334574.8	37	c.520	CCDS45332.1	15	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954681	0.73902	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.18502	2.21;2.21	5.12	5.12	0.69794	.	0.243109	0.38272	N	0.001742	T	0.33789	0.0875	M	0.61703	1.905	0.30512	N	0.76936	D;D	0.69078	0.993;0.997	P;P	0.60012	0.757;0.867	T	0.24657	-1.0154	10	0.56958	D	0.05	-16.1206	12.6556	0.56786	0.1649:0.8351:0.0:0.0	.	174;174	B7ZM02;A1L4K1	.;FSD2_HUMAN	K	174	ENSP00000335651:E174K;ENSP00000444078:E174K	ENSP00000335651:E174K	E	-	1	0	FSD2	81252677	0.986000	0.35501	0.179000	0.23059	0.716000	0.41182	4.851000	0.62896	2.384000	0.81235	0.655000	0.94253	GAA	FSD2	-	NULL		0.483	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FSD2	HGNC	protein_coding	OTTHUMT00000418385.1	C	NM_001007122		83455623	-1	no_errors	ENST00000334574	ensembl	human	known	70_37	missense	SNP	0.671	T
FSIP2	401024	genome.wustl.edu	37	2	186653530	186653530	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:186653530C>T	ENST00000424728.1	+	16	1667	c.1667C>T	c.(1666-1668)tCa>tTa	p.S556L	FSIP2_ENST00000343098.5_Missense_Mutation_p.S645L|AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	556										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCAGATAGTTCAAGTTTCTGT	0.388																																																	0																																										SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.1667C>T	2.37:g.186653530C>T	ENSP00000401306:p.Ser556Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.S645L	ENST00000424728.1	37	c.1934		2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943374	0.73672	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	T;T	0.61392	0.11;0.12	5.87	5.87	0.94306	.	0.000000	0.43919	D	0.000517	T	0.64951	0.2645	L	0.48642	1.525	0.34311	D	0.685423	.	.	.	.	.	.	T	0.74581	-0.3618	8	0.72032	D	0.01	.	15.7033	0.77558	0.0:1.0:0.0:0.0	.	.	.	.	L	645;556;556	ENSP00000344403:S645L;ENSP00000401306:S556L	ENSP00000321903:S556L	S	+	2	0	FSIP2	186361775	0.997000	0.39634	0.992000	0.48379	0.992000	0.81027	4.109000	0.57824	2.785000	0.95823	0.650000	0.86243	TCA	FSIP2	-	NULL		0.388	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	C	NM_173651		186653530	+1	no_errors	ENST00000343098	ensembl	human	known	70_37	missense	SNP	0.998	T
FSTL3	10272	genome.wustl.edu	37	19	681413	681413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:681413C>T	ENST00000166139.4	+	4	618	c.586C>T	c.(586-588)Cga>Tga	p.R196*	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	196	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				adrenal gland development (GO:0030325)|cellular response to metal ion (GO:0071248)|hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)|ossification (GO:0001503)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|secretory granule (GO:0030141)	activin binding (GO:0048185)|fibronectin binding (GO:0001968)						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGGTGTGTCGAGCGGCGCC	0.697			T	CCND1	B-CLL																																			Dom	yes		19	19p13	10272	follistatin-like 3 (secreted glycoprotein)		L	0													32.0	26.0	28.0					19																	681413		2199	4293	6492	SO:0001587	stop_gained	10272			U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404			3973	protein-coding gene	gene with protein product	"""follistatin-related protein"""	605343				9671416, 15527507	Standard	NM_005860		Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.586C>T	19.37:g.681413C>T	ENSP00000166139:p.Arg196*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7E3	Nonsense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Prot_inh_Kazal	p.R196*	ENST00000166139.4	37	c.586	CCDS12040.1	19	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678212	0.88542	.	.	ENSG00000070404	ENST00000166139	.	.	.	3.85	0.286	0.15710	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-30.2838	8.2418	0.31665	0.3154:0.5319:0.1527:0.0	.	.	.	.	X	196	.	ENSP00000166139:R196X	R	+	1	2	FSTL3	632413	1.000000	0.71417	0.337000	0.25536	0.665000	0.39181	2.652000	0.46682	-0.017000	0.14103	-0.360000	0.07572	CGA	FSTL3	-	NULL		0.697	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL3	HGNC	protein_coding	OTTHUMT00000452479.1	C	NM_005860		681413	+1	no_errors	ENST00000166139	ensembl	human	known	70_37	nonsense	SNP	1.000	T
FSTL5	56884	genome.wustl.edu	37	4	162431553	162431553	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:162431553C>T	ENST00000306100.5	-	11	1772	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	FSTL5_ENST00000379164.4_Missense_Mutation_p.E445K|FSTL5_ENST00000427802.2_Intron|FSTL5_ENST00000536695.1_Missense_Mutation_p.E445K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	446						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTAGTACCTTCTTCTCTCCAT	0.249																																																	0													46.0	46.0	46.0					4																	162431553		2191	4268	6459	SO:0001583	missense	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1336G>A	4.37:g.162431553C>T	ENSP00000305334:p.Glu446Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.E446K	ENST00000306100.5	37	c.1336	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829593	0.71258	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000536695	T;T;T	0.72835	-0.69;-0.67;-0.67	5.4	5.4	0.78164	.	0.048523	0.85682	D	0.000000	T	0.66147	0.2760	L	0.57536	1.79	0.48087	D	0.999584	P;B	0.38827	0.649;0.22	B;B	0.38264	0.269;0.079	T	0.65076	-0.6256	10	0.30854	T	0.27	.	12.4534	0.55688	0.0:0.8314:0.1686:0.0	.	445;446	F8VZ90;Q8N475	.;FSTL5_HUMAN	K	446;445;445	ENSP00000305334:E446K;ENSP00000368462:E445K;ENSP00000440409:E445K	ENSP00000305334:E446K	E	-	1	0	FSTL5	162651003	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.102000	0.50291	2.522000	0.85027	0.557000	0.71058	GAA	FSTL5	-	NULL		0.249	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	C	NM_020116		162431553	-1	no_errors	ENST00000306100	ensembl	human	known	70_37	missense	SNP	1.000	T
FUK	197258	genome.wustl.edu	37	16	70513187	70513187	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:70513187C>T	ENST00000288078.6	+	23	3266	c.3034C>T	c.(3034-3036)Ctg>Ttg	p.L1012L	FUK_ENST00000571514.1_Silent_p.L503L|FUK_ENST00000378912.2_Silent_p.L1018L	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	1012						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GATGGATGTCCTGGCCCCCCA	0.632																																																	0													44.0	48.0	47.0					16																	70513187		2055	4209	6264	SO:0001819	synonymous_variant	197258				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.3034C>T	16.37:g.70513187C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase	p.L1018	ENST00000288078.6	37	c.3052	CCDS10891.2	16																																																																																			FUK	-	pfam_GHMP_kinase_C_dom,prints_Galkinase		0.632	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUK	HGNC	protein_coding	OTTHUMT00000157291.2	C	NM_145059		70513187	+1	no_errors	ENST00000378912	ensembl	human	known	70_37	silent	SNP	1.000	T
FURIN	5045	genome.wustl.edu	37	15	91419569	91419569	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:91419569C>T	ENST00000268171.3	+	3	541	c.262C>T	c.(262-264)Cag>Tag	p.Q88*		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	88					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CAGCCGGCTGCAGAGGGAGCC	0.662																																																	0													48.0	55.0	53.0					15																	91419569		2198	4298	6496	SO:0001587	stop_gained	5045			X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.262C>T	15.37:g.91419569C>T	ENSP00000268171:p.Gln88*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14336|Q6LBS3|Q9UCZ5	Nonsense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel	p.Q88*	ENST00000268171.3	37	c.262	CCDS10364.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.139388	0.97320	.	.	ENSG00000140564	ENST00000268171	.	.	.	4.82	3.88	0.44766	.	0.523917	0.20476	N	0.091600	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0196	8.2126	0.31492	0.1521:0.6169:0.231:0.0	.	.	.	.	X	88	.	ENSP00000268171:Q88X	Q	+	1	0	FURIN	89220573	0.920000	0.31207	1.000000	0.80357	0.982000	0.71751	0.775000	0.26689	1.220000	0.43490	0.555000	0.69702	CAG	FURIN	-	superfamily_Prot_inh_propept		0.662	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FURIN	HGNC	protein_coding	OTTHUMT00000313492.1	C	NM_002569		91419569	+1	no_errors	ENST00000268171	ensembl	human	known	70_37	nonsense	SNP	0.999	T
FXR1	8087	genome.wustl.edu	37	3	180666275	180666275	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:180666275G>C	ENST00000357559.4	+	5	795	c.411G>C	c.(409-411)ttG>ttC	p.L137F	FXR1_ENST00000480918.1_Missense_Mutation_p.L124F|FXR1_ENST00000445140.2_Missense_Mutation_p.L137F|FXR1_ENST00000468861.1_Missense_Mutation_p.L52F|FXR1_ENST00000491062.1_Missense_Mutation_p.L88F|FXR1_ENST00000305586.7_Missense_Mutation_p.L52F	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	137					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CTGAGGATTTGAGAGAGGCGT	0.333																																																	0													58.0	61.0	60.0					3																	180666275		2193	4297	6490	SO:0001583	missense	8087			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.411G>C	3.37:g.180666275G>C	ENSP00000350170:p.Leu137Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold-like,smart_KH_dom,pfscan_KH_dom_type_1	p.L137F	ENST00000357559.4	37	c.411	CCDS3238.1	3	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655079	0.67472	.	.	ENSG00000114416	ENST00000469882;ENST00000484790;ENST00000465551;ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000484958;ENST00000480918;ENST00000484042	T;T;T;T;T;T;T;T;T;T;T	0.63255	0.01;0.11;0.21;1.08;0.48;0.24;0.01;0.43;-0.01;0.87;-0.03	5.98	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.79633	0.4479	M	0.87547	2.89	0.58432	D	0.999999	D;D;D;D;D;D	0.71674	0.994;0.983;0.983;0.993;0.998;0.998	P;D;P;P;D;D	0.78314	0.856;0.917;0.894;0.839;0.984;0.991	T	0.81906	-0.0718	10	0.87932	D	0	-5.5871	10.6883	0.45856	0.1919:0.0:0.8081:0.0	.	124;88;52;52;137;137	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	F	52;52;52;137;52;88;52;137;52;124;141	ENSP00000419793:L52F;ENSP00000417125:L52F;ENSP00000418724:L52F;ENSP00000350170:L137F;ENSP00000307633:L52F;ENSP00000420643:L88F;ENSP00000420515:L52F;ENSP00000388828:L137F;ENSP00000419933:L52F;ENSP00000418097:L124F;ENSP00000417513:L141F	ENSP00000307633:L52F	L	+	3	2	FXR1	182148969	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.179000	0.31993	2.835000	0.97688	0.650000	0.86243	TTG	FXR1	-	NULL		0.333	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR1	HGNC	protein_coding	OTTHUMT00000350265.5	G			180666275	+1	no_errors	ENST00000357559	ensembl	human	known	70_37	missense	SNP	1.000	C
FXYD4	53828	genome.wustl.edu	37	10	43870966	43870966	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:43870966G>C	ENST00000476166.1	+	6	451	c.117G>C	c.(115-117)ctG>ctC	p.L39L	FXYD4_ENST00000480834.1_3'UTR	NM_173160.2	NP_775183.1	P59646	FXYD4_HUMAN	FXYD domain containing ion transport regulator 4	39					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)			NS(1)|large_intestine(1)|lung(3)	5						ACCTGCAGCTGAGCGGACTGA	0.612																																					GBM(173;880 2047 13035 42390 49655)												0													72.0	70.0	71.0					10																	43870966		2203	4300	6503	SO:0001819	synonymous_variant	53828				CCDS7203.1	10q11.21	2008-02-01	2002-01-14		ENSG00000150201	ENSG00000150201			4028	protein-coding gene	gene with protein product			"""FXYD domain-containing ion transport regulator 4"""			10950925, 12763854	Standard	NM_001184963		Approved	CHIF	uc001jaq.1	P59646	OTTHUMG00000018027	ENST00000476166.1:c.117G>C	10.37:g.43870966G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWZ1|Q7Z4M5	Silent	SNP	pfam_Ion-transport_regulator_FXYD	p.L39	ENST00000476166.1	37	c.117	CCDS7203.1	10																																																																																			FXYD4	-	pfam_Ion-transport_regulator_FXYD		0.612	FXYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXYD4	HGNC	protein_coding	OTTHUMT00000047698.2	G	NM_173160		43870966	+1	no_errors	ENST00000374451	ensembl	human	known	70_37	silent	SNP	0.991	C
FXYD6	53826	genome.wustl.edu	37	11	117710540	117710540	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:117710540C>G	ENST00000526014.1	-	7	860	c.265G>C	c.(265-267)Gag>Cag	p.E89Q	RP11-728F11.4_ENST00000525260.1_RNA|FXYD6_ENST00000527429.1_3'UTR|FXYD6_ENST00000524656.1_Missense_Mutation_p.E89Q|FXYD6_ENST00000583233.1_5'UTR|FXYD6_ENST00000529335.2_Missense_Mutation_p.Q79H|RP11-728F11.4_ENST00000534150.1_RNA|FXYD6-FXYD2_ENST00000532984.1_Missense_Mutation_p.Q76H|FXYD6_ENST00000527717.1_Missense_Mutation_p.E89Q|RP11-728F11.4_ENST00000581173.2_RNA|FXYD6_ENST00000260282.4_Missense_Mutation_p.E89Q|FXYD6_ENST00000584394.1_Missense_Mutation_p.R72T|FXYD6_ENST00000539526.1_Missense_Mutation_p.E89Q|FXYD6_ENST00000540359.1_Missense_Mutation_p.E89Q|FXYD6_ENST00000530956.1_Missense_Mutation_p.E89Q	NM_022003.3	NP_071286.1	Q9H0Q3	FXYD6_HUMAN	FXYD domain containing ion transport regulator 6	89					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)			central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)		TTCTGGGGCTCTGTTGCTGGA	0.567																																																	0													186.0	163.0	171.0					11																	117710540		2201	4296	6497	SO:0001583	missense	53826			BC093040	CCDS8387.1	11q23.3	2010-04-14	2002-01-14		ENSG00000137726	ENSG00000137726			4030	protein-coding gene	gene with protein product	"""phosphohippolin"""	606683	"""FXYD domain-containing ion transport regulator 6"""			10950925	Standard	NM_022003		Approved			Q9H0Q3		ENST00000526014.1:c.265G>C	11.37:g.117710540C>G	ENSP00000433312:p.Glu89Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0R4|J3QLD2|Q6FIG9|Q6UW52	Missense_Mutation	SNP	pfam_Ion-transport_regulator_FXYD	p.E89Q	ENST00000526014.1	37	c.265	CCDS8387.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.60|16.60	3.167539|3.167539	0.57476|0.57476	.|.	.|.	ENSG00000137726|ENSG00000137726	ENST00000540359;ENST00000539526;ENST00000260282;ENST00000527717;ENST00000526014;ENST00000524656|ENST00000529335	T;T;T;T;T;T|T	0.66815|0.64991	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23|-0.13	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|.	.|.	.|.	.|.	T|T	0.72653|0.72653	0.3487|0.3487	.|.	.|.	.|.	0.40385|0.40385	D|D	0.979489|0.979489	B|.	0.13594|.	0.008|.	B|.	0.08055|.	0.003|.	T|T	0.74833|0.74833	-0.3530|-0.3530	8|6	0.31617|0.52906	T|T	0.26|0.07	.|.	14.4832|14.4832	0.67597|0.67597	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	89|.	Q9H0Q3|.	FXYD6_HUMAN|.	Q|H	89|79	ENSP00000444243:E89Q;ENSP00000442756:E89Q;ENSP00000260282:E89Q;ENSP00000431446:E89Q;ENSP00000433312:E89Q;ENSP00000431427:E89Q|ENSP00000436629:Q79H	ENSP00000260282:E89Q|ENSP00000436629:Q79H	E|Q	-|-	1|3	0|2	FXYD6|FXYD6	117215750|117215750	0.994000|0.994000	0.37717|0.37717	0.999000|0.999000	0.59377|0.59377	0.987000|0.987000	0.75469|0.75469	4.019000|4.019000	0.57181|0.57181	2.566000|2.566000	0.86566|0.86566	0.561000|0.561000	0.74099|0.74099	GAG|CAG	FXYD6	-	NULL		0.567	FXYD6-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	FXYD6	HGNC	protein_coding	OTTHUMT00000392307.1	C	NM_022003		117710540	-1	no_errors	ENST00000260282	ensembl	human	known	70_37	missense	SNP	1.000	G
FYCO1	79443	genome.wustl.edu	37	3	46008803	46008803	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:46008803C>T	ENST00000296137.2	-	8	2228	c.2023G>A	c.(2023-2025)Gac>Aac	p.D675N	FYCO1_ENST00000535325.1_Missense_Mutation_p.D675N	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	675					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCCATCTGGTCACCCAAGTGC	0.622																																																	0													60.0	65.0	64.0					3																	46008803		2203	4299	6502	SO:0001583	missense	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2023G>A	3.37:g.46008803C>T	ENSP00000296137:p.Asp675Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.D675N	ENST00000296137.2	37	c.2023	CCDS2734.1	3	.	.	.	.	.	.	.	.	.	.	C	7.110	0.575778	0.13623	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.21031	2.03;2.03	5.62	3.82	0.43975	.	0.759254	0.12957	N	0.425371	T	0.13500	0.0327	L	0.35723	1.085	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.39583	-0.9607	10	0.10111	T	0.7	-13.9395	5.1746	0.15127	0.2061:0.619:0.0:0.1749	.	675;675	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	N	675	ENSP00000296137:D675N;ENSP00000441178:D675N	ENSP00000296137:D675N	D	-	1	0	FYCO1	45983807	0.008000	0.16893	0.599000	0.28851	0.603000	0.37013	1.310000	0.33551	0.718000	0.32166	0.655000	0.94253	GAC	FYCO1	-	superfamily_Prefoldin		0.622	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	C	NM_024513		46008803	-1	no_errors	ENST00000535325	ensembl	human	known	70_37	missense	SNP	0.004	T
FZD8	8325	genome.wustl.edu	37	10	35928930	35928930	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:35928930C>T	ENST00000374694.1	-	1	1432	c.1428G>A	c.(1426-1428)caG>caA	p.Q476Q	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	476					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGTCCAGGCTCTGGTTGCCCA	0.672																																																	0													39.0	34.0	36.0					10																	35928930		2202	4300	6502	SO:0001819	synonymous_variant	8325			AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.1428G>A	10.37:g.35928930C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.Q476	ENST00000374694.1	37	c.1428	CCDS7192.1	10																																																																																			FZD8	-	pfam_Frizzled,pfscan_GPCR_2-like		0.672	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD8	HGNC	protein_coding	OTTHUMT00000047575.2	C	NM_031866		35928930	-1	no_errors	ENST00000374694	ensembl	human	known	70_37	silent	SNP	1.000	T
FZR1	51343	genome.wustl.edu	37	19	3532042	3532042	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:3532042C>G	ENST00000395095.3	+	9	957	c.957C>G	c.(955-957)ctC>ctG	p.L319L	FZR1_ENST00000313639.8_Silent_p.L230L|FZR1_ENST00000441788.2_Silent_p.L319L	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	319					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCGGGCTCAAGTGGTCCA	0.706																																																	0													8.0	9.0	9.0					19																	3532042		2090	4147	6237	SO:0001819	synonymous_variant	51343			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.957C>G	19.37:g.3532042C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L319	ENST00000395095.3	37	c.957	CCDS45916.1	19																																																																																			FZR1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.706	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FZR1	HGNC	protein_coding	OTTHUMT00000452869.2	C	NM_016263		3532042	+1	no_errors	ENST00000395095	ensembl	human	known	70_37	silent	SNP	0.966	G
G0S2	50486	genome.wustl.edu	37	1	209849101	209849101	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:209849101G>A	ENST00000367029.4	+	2	234	c.72G>A	c.(70-72)gtG>gtA	p.V24V	RP1-28O10.1_ENST00000445272.1_RNA|RP1-28O10.1_ENST00000441672.1_RNA	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN	G0/G1 switch 2	24					cellular lipid metabolic process (GO:0044255)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|small molecule metabolic process (GO:0044281)	lipid particle (GO:0005811)|mitochondrion (GO:0005739)				large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		GGAAGATGGTGAAGCTGTACG	0.652																																																	0													47.0	35.0	39.0					1																	209849101		2203	4299	6502	SO:0001819	synonymous_variant	50486				CCDS1488.1	1q32.2	2014-04-22	2014-04-22		ENSG00000123689	ENSG00000123689			30229	protein-coding gene	gene with protein product	"""putative lymphocyte G0/G1 switch gene"""	614447	"""G0/G1switch 2"""			1930693, 10645953	Standard	NM_015714		Approved		uc001hhi.4	P27469	OTTHUMG00000036479	ENST00000367029.4:c.72G>A	1.37:g.209849101G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FGC8	Silent	SNP	NULL	p.V24	ENST00000367029.4	37	c.72	CCDS1488.1	1																																																																																			G0S2	-	NULL		0.652	G0S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G0S2	HGNC	protein_coding	OTTHUMT00000088732.1	G	NM_015714		209849101	+1	no_errors	ENST00000367029	ensembl	human	known	70_37	silent	SNP	1.000	A
GAB4	128954	genome.wustl.edu	37	22	17469015	17469015	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:17469015G>C	ENST00000400588.1	-	3	628	c.521C>G	c.(520-522)tCt>tGt	p.S174C	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	174										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AGCTGGAGAAGAGCAGAGGCC	0.592																																																	0													46.0	59.0	55.0					22																	17469015		2130	4264	6394	SO:0001583	missense	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.521C>G	22.37:g.17469015G>C	ENSP00000383431:p.Ser174Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S174C	ENST00000400588.1	37	c.521	CCDS42976.1	22	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244589	0.22796	.	.	ENSG00000215568	ENST00000400588	T	0.37584	1.19	1.84	1.84	0.25277	.	0.199186	0.43416	D	0.000567	T	0.44891	0.1315	L	0.43923	1.385	0.38935	D	0.958034	D	0.67145	0.996	D	0.74674	0.984	T	0.45011	-0.9290	10	0.62326	D	0.03	.	7.1508	0.25610	0.0:0.0:1.0:0.0	.	174	Q2WGN9	GAB4_HUMAN	C	174	ENSP00000383431:S174C	ENSP00000383431:S174C	S	-	2	0	GAB4	15849015	1.000000	0.71417	0.925000	0.36789	0.018000	0.09664	4.934000	0.63491	1.322000	0.45245	0.205000	0.17691	TCT	GAB4	-	NULL		0.592	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1	G	XM_372882		17469015	-1	no_errors	ENST00000400588	ensembl	human	known	70_37	missense	SNP	0.998	C
GABRR1	2569	genome.wustl.edu	37	6	89907951	89907951	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:89907951C>T	ENST00000454853.2	-	5	470	c.360G>A	c.(358-360)atG>atA	p.M120I	GABRR1_ENST00000435811.1_Missense_Mutation_p.M103I|GABRR1_ENST00000369451.3_Missense_Mutation_p.M33I	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	120					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GGTAGAGGGTCATCGTAAAGT	0.547																																																	0													184.0	174.0	178.0					6																	89907951		2203	4300	6503	SO:0001583	missense	2569				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.360G>A	6.37:g.89907951C>T	ENSP00000412673:p.Met120Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel	p.M120I	ENST00000454853.2	37	c.360	CCDS5019.2	6	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107698	0.37242	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	T;T;T	0.78003	-1.14;-1.14;-1.14	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.77718	0.4172	L	0.31294	0.92	0.58432	D	0.999999	P;D	0.56035	0.936;0.974	P;D	0.63113	0.693;0.911	T	0.74228	-0.3733	9	.	.	.	-43.3629	20.3437	0.98782	0.0:1.0:0.0:0.0	.	103;120	P24046-2;P24046	.;GBRR1_HUMAN	I	120;103;33;33	ENSP00000412673:M120I;ENSP00000394687:M103I;ENSP00000358463:M33I	.	M	-	3	0	GABRR1	89964670	1.000000	0.71417	1.000000	0.80357	0.225000	0.24961	7.717000	0.84732	2.815000	0.96918	0.561000	0.74099	ATG	GABRR1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.547	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	HGNC	protein_coding	OTTHUMT00000041479.2	C			89907951	-1	no_errors	ENST00000454853	ensembl	human	known	70_37	missense	SNP	1.000	T
GAK	2580	genome.wustl.edu	37	4	877234	877234	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:877234C>T	ENST00000314167.4	-	13	1383	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	GAK_ENST00000511163.1_Missense_Mutation_p.E346K	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	425	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCCACACCTTCTGCTGGGAAT	0.592																																																	0													168.0	143.0	151.0					4																	877234		2203	4300	6503	SO:0001583	missense	2580			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1273G>A	4.37:g.877234C>T	ENSP00000314499:p.Glu425Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5U4P5|Q9BVY6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_Kinase-like_dom,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_N,pfscan_Prot_kinase_cat_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.E425K	ENST00000314167.4	37	c.1273	CCDS3340.1	4	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920155	0.73098	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.98531	-4.98;-4.98	5.34	5.34	0.76211	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98764	0.9584	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.89917	1.0;0.992;1.0;0.999	D;D;D;D	0.76071	0.985;0.948;0.987;0.971	D	0.99827	1.1051	10	0.72032	D	0.01	-30.6774	16.5519	0.84474	0.0:1.0:0.0:0.0	.	346;346;425;321	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	K	425;346	ENSP00000314499:E425K;ENSP00000421361:E346K	ENSP00000314499:E425K	E	-	1	0	GAK	867234	1.000000	0.71417	0.101000	0.21167	0.134000	0.20937	7.656000	0.83736	2.498000	0.84270	0.591000	0.81541	GAA	GAK	-	pfscan_Phosphatase_tensin-typ		0.592	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAK	HGNC	protein_coding	OTTHUMT00000239188.1	C	NM_005255		877234	-1	no_errors	ENST00000314167	ensembl	human	known	70_37	missense	SNP	0.995	T
GAL3ST1	9514	genome.wustl.edu	37	22	30953252	30953252	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:30953252G>C	ENST00000402321.1	-	2	445	c.128C>G	c.(127-129)tCc>tGc	p.S43C	GAL3ST1_ENST00000406955.1_Missense_Mutation_p.S43C|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.S43C|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.S43C|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.S43C|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.S43C|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.S43C			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	43					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CACTCACGTGGAGGCCAGGCC	0.652																																																	0													51.0	54.0	53.0					22																	30953252		2203	4300	6503	SO:0001583	missense	9514			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.128C>G	22.37:g.30953252G>C	ENSP00000385735:p.Ser43Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96C63	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase	p.S43C	ENST00000402321.1	37	c.128	CCDS13879.1	22	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378763	0.61735	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827;ENST00000437282;ENST00000416358;ENST00000427899;ENST00000423299;ENST00000443136;ENST00000423371;ENST00000428682;ENST00000453479;ENST00000426220;ENST00000447224;ENST00000411821;ENST00000445645;ENST00000448604	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38	5.67	4.66	0.58398	.	0.446831	0.22235	N	0.062762	T	0.18841	0.0452	N	0.22421	0.69	0.80722	D	1	D	0.53885	0.963	P	0.50754	0.649	T	0.01904	-1.1250	10	0.40728	T	0.16	.	13.955	0.64142	0.0739:0.0:0.926:0.0	.	43	Q99999	G3ST1_HUMAN	C	43	ENSP00000385825:S43C;ENSP00000385735:S43C;ENSP00000384122:S43C;ENSP00000384388:S43C;ENSP00000343234:S43C;ENSP00000385207:S43C;ENSP00000402587:S43C;ENSP00000390545:S43C;ENSP00000395080:S43C;ENSP00000405017:S43C;ENSP00000401426:S43C;ENSP00000391485:S43C;ENSP00000397092:S43C;ENSP00000391996:S43C;ENSP00000405381:S43C;ENSP00000401074:S43C;ENSP00000389876:S43C;ENSP00000398380:S43C;ENSP00000414542:S43C;ENSP00000412995:S43C;ENSP00000394912:S43C;ENSP00000399649:S43C;ENSP00000390068:S43C	ENSP00000343234:S43C	S	-	2	0	GAL3ST1	29283252	0.998000	0.40836	0.955000	0.39395	0.747000	0.42532	2.269000	0.43346	1.389000	0.46526	0.591000	0.81541	TCC	GAL3ST1	-	pfam_Gal-3-0_sulfotransfrase		0.652	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAL3ST1	HGNC	protein_coding	OTTHUMT00000321745.1	G	NM_004861		30953252	-1	no_errors	ENST00000338911	ensembl	human	known	70_37	missense	SNP	0.992	C
GALK1	2584	genome.wustl.edu	37	17	73759142	73759142	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:73759142G>A	ENST00000588479.1	-	4	1138	c.564C>T	c.(562-564)ttC>ttT	p.F188F	GALK1_ENST00000437911.1_Silent_p.F218F|GALK1_ENST00000225614.2_Silent_p.F188F			P51570	GALK1_HUMAN	galactokinase 1	188					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAAGTGAGATGAACTGGTCCA	0.632																																																	0													66.0	57.0	60.0					17																	73759142		2203	4300	6503	SO:0001819	synonymous_variant	2584				CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.564C>T	17.37:g.73759142G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC07|B4E1G6	Silent	SNP	pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase	p.F218	ENST00000588479.1	37	c.654	CCDS11728.1	17																																																																																			GALK1	-	pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Galactokinase		0.632	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	GALK1	HGNC	protein_coding	OTTHUMT00000448430.1	G			73759142	-1	no_errors	ENST00000437911	ensembl	human	known	70_37	silent	SNP	1.000	A
GALK1	2584	genome.wustl.edu	37	17	73760097	73760097	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:73760097G>A	ENST00000588479.1	-	2	810	c.236C>T	c.(235-237)tCt>tTt	p.S79F	GALK1_ENST00000437911.1_Missense_Mutation_p.S109F|GALK1_ENST00000225614.2_Missense_Mutation_p.S79F			P51570	GALK1_HUMAN	galactokinase 1	79					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCACCCTCAGAGGTGGTGAG	0.652																																																	0													25.0	24.0	24.0					17																	73760097		2202	4300	6502	SO:0001583	missense	2584				CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.236C>T	17.37:g.73760097G>A	ENSP00000465930:p.Ser79Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC07|B4E1G6	Missense_Mutation	SNP	pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase	p.S109F	ENST00000588479.1	37	c.326	CCDS11728.1	17	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108209	0.37242	.	.	ENSG00000108479	ENST00000225614;ENST00000437911;ENST00000375188	D;D	0.84223	-1.82;-1.82	4.77	4.77	0.60923	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.386121	0.28488	N	0.015165	D	0.90607	0.7055	L	0.56769	1.78	0.19575	N	0.999962	D;B	0.89917	1.0;0.028	D;B	0.68765	0.96;0.049	D	0.84525	0.0630	10	0.54805	T	0.06	-6.0452	18.1773	0.89766	0.0:0.0:1.0:0.0	.	79;79	B4E1A8;P51570	.;GALK1_HUMAN	F	79;109;182	ENSP00000225614:S79F;ENSP00000406305:S109F	ENSP00000225614:S79F	S	-	2	0	GALK1	71271692	0.223000	0.23663	0.908000	0.35775	0.829000	0.46940	2.733000	0.47360	2.369000	0.80426	0.655000	0.94253	TCT	GALK1	-	superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,tigrfam_Galactokinase		0.652	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	GALK1	HGNC	protein_coding	OTTHUMT00000448430.1	G			73760097	-1	no_errors	ENST00000437911	ensembl	human	known	70_37	missense	SNP	0.098	A
GALT	2592	genome.wustl.edu	37	9	34646747	34646747	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:34646747G>C	ENST00000378842.3	+	1	88	c.46G>C	c.(46-48)Gag>Cag	p.E16Q	GALT_ENST00000556278.1_Missense_Mutation_p.E16Q|GALT_ENST00000450095.2_5'UTR	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	16					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GCAGGCGTCAGAGGCGGACGC	0.667									Galactosemia		OREG0019158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													41.0	44.0	43.0					9																	34646747		2201	4300	6501	SO:0001583	missense	2592	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.46G>C	9.37:g.34646747G>C	ENSP00000368119:p.Glu16Gln	Somatic	849	WXS	Illumina HiSeq	Phase_IV	B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	pfam_GalP_Utransf_N,pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1	p.E16Q	ENST00000378842.3	37	c.46	CCDS6565.1	9	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518752	0.85495	.	.	ENSG00000213930;ENSG00000258728	ENST00000378842;ENST00000556278	D;D	0.99557	-6.16;-5.07	5.64	5.64	0.86602	.	0.363501	0.21639	U	0.071366	D	0.98789	0.9592	N	0.25647	0.755	0.80722	D	1	D	0.57571	0.98	P	0.52598	0.703	D	0.99038	1.0823	10	0.44086	T	0.13	-7.9894	16.4444	0.83913	0.0:0.0:1.0:0.0	.	16	P07902	GALT_HUMAN	Q	16	ENSP00000368119:E16Q;ENSP00000451792:E16Q	ENSP00000368119:E16Q	E	+	1	0	RP11-195F19.29;GALT	34636747	0.988000	0.35896	1.000000	0.80357	0.280000	0.26924	2.319000	0.43788	2.675000	0.91044	0.462000	0.41574	GAG	GALT	-	pirsf_GalP_UDPtransf1		0.667	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GALT	HGNC	protein_coding	OTTHUMT00000052231.1	G	NM_000155		34646747	+1	no_errors	ENST00000378842	ensembl	human	known	70_37	missense	SNP	0.999	C
GAN	8139	genome.wustl.edu	37	16	81348827	81348827	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:81348827G>C	ENST00000568107.2	+	1	271	c.109G>C	c.(109-111)Gac>Cac	p.D37H	RP11-55K13.1_ENST00000570148.1_RNA	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	37	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCTGGTCCTCGACGGGGAGGA	0.716																																					GBM(106;1239 1507 7582 9741 33976)												0													14.0	15.0	15.0					16																	81348827		2189	4295	6484	SO:0001583	missense	8139			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.109G>C	16.37:g.81348827G>C	ENSP00000476795:p.Asp37His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D37H	ENST00000568107.2	37	c.109	CCDS10935.1	16	.	.	.	.	.	.	.	.	.	.	g	18.21	3.573550	0.65765	.	.	ENSG00000127688	ENST00000248272	T	0.72394	-0.65	4.16	3.17	0.36434	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.196194	0.42548	D	0.000683	T	0.66025	0.2748	L	0.58583	1.82	0.40598	D	0.98155	B	0.30851	0.297	B	0.29862	0.108	T	0.68176	-0.5478	10	0.59425	D	0.04	.	13.0862	0.59142	0.0:0.0:0.8382:0.1618	.	37	Q9H2C0	GAN_HUMAN	H	37	ENSP00000248272:D37H	ENSP00000248272:D37H	D	+	1	0	GAN	79906328	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.703000	0.74633	0.905000	0.36596	0.454000	0.30748	GAC	GAN	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.716	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAN	HGNC	protein_coding	OTTHUMT00000269050.3	G			81348827	+1	no_errors	ENST00000248272	ensembl	human	known	70_37	missense	SNP	1.000	C
GANC	2595	genome.wustl.edu	37	15	42632033	42632033	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:42632033C>T	ENST00000318010.8	+	17	2250	c.2010C>T	c.(2008-2010)atC>atT	p.I670I		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	670					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GAGAAGCCATCAGAGAGCGCT	0.542																																																	0													64.0	50.0	55.0					15																	42632033		2203	4299	6502	SO:0001819	synonymous_variant	2595			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2010C>T	15.37:g.42632033C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Silent	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.I670	ENST00000318010.8	37	c.2010	CCDS10084.1	15																																																																																			GANC	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.542	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GANC	HGNC	protein_coding	OTTHUMT00000252887.2	C	NM_198141		42632033	+1	no_errors	ENST00000318010	ensembl	human	known	70_37	silent	SNP	0.993	T
GAPVD1	26130	genome.wustl.edu	37	9	128113141	128113141	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:128113141G>A	ENST00000495955.1	+	23	3903	c.3613G>A	c.(3613-3615)Gag>Aag	p.E1205K	GAPVD1_ENST00000394083.2_Missense_Mutation_p.E1139K|GAPVD1_ENST00000470056.1_Missense_Mutation_p.E1160K|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E1187K|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E1179K|GAPVD1_ENST00000394105.2_Missense_Mutation_p.E1214K|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E1205K|GAPVD1_ENST00000312123.9_Missense_Mutation_p.E1166K			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1205					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTCGATTGCTGAGGACTACAG	0.383																																																	0													119.0	115.0	116.0					9																	128113141		2203	4300	6503	SO:0001583	missense	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3613G>A	9.37:g.128113141G>A	ENSP00000419063:p.Glu1205Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.E1214K	ENST00000495955.1	37	c.3640		9	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759402	0.89932	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.65270	0.2675	L	0.46157	1.445	0.80722	D	1	B;B;B;B;B;B	0.32425	0.255;0.226;0.371;0.371;0.371;0.244	B;B;B;B;B;B	0.41374	0.194;0.103;0.355;0.355;0.355;0.355	T	0.65512	-0.6150	9	0.56958	D	0.05	.	18.6035	0.91257	0.0:0.0:1.0:0.0	.	1205;220;1160;1166;1187;1214	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	K	1160;1214;1205;1179;1139;1205;1187;1166	.	ENSP00000265956:E1179K	E	+	1	0	GAPVD1	127152962	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.869000	0.99810	2.630000	0.89119	0.555000	0.69702	GAG	GAPVD1	-	NULL		0.383	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1	G			128113141	+1	no_errors	ENST00000394105	ensembl	human	known	70_37	missense	SNP	1.000	A
GATA2	2624	genome.wustl.edu	37	3	128200129	128200129	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:128200129C>T	ENST00000341105.2	-	6	1507	c.1176G>A	c.(1174-1176)ggG>ggA	p.G392G	GATA2_ENST00000430265.2_Silent_p.G378G|GATA2_ENST00000487848.1_Silent_p.G392G|GATA2_ENST00000489987.1_5'UTR	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	392					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GAGTCTGGATCCCTTCCTTCT	0.542			Mis		AML(CML blast transformation)																																			Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0													107.0	106.0	106.0					3																	128200129		2203	4300	6503	SO:0001819	synonymous_variant	2624			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1176G>A	3.37:g.128200129C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Silent	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.G392	ENST00000341105.2	37	c.1176	CCDS3049.1	3																																																																																			GATA2	-	smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA		0.542	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA2	HGNC	protein_coding	OTTHUMT00000356925.1	C	NM_032638		128200129	-1	no_errors	ENST00000341105	ensembl	human	known	70_37	silent	SNP	0.901	T
GCC2	9648	genome.wustl.edu	37	2	109087433	109087433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:109087433C>T	ENST00000309863.6	+	6	2362	c.1648C>T	c.(1648-1650)Caa>Taa	p.Q550*		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	550					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						gttactatctcaacaagaatt	0.373																																																	0													38.0	42.0	41.0					2																	109087433		2190	4289	6479	SO:0001587	stop_gained	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1648C>T	2.37:g.109087433C>T	ENSP00000307939:p.Gln550*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Nonsense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.Q550*	ENST00000309863.6	37	c.1648	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494714	0.85069	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	.	.	.	5.31	3.38	0.38709	.	0.594275	0.17153	N	0.184977	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	8.5421	0.33399	0.4291:0.4927:0.0:0.0782	.	.	.	.	X	550;513;295	.	ENSP00000307939:Q550X	Q	+	1	0	GCC2	108453865	0.000000	0.05858	0.053000	0.19242	0.944000	0.59088	0.169000	0.16641	1.345000	0.45676	0.650000	0.86243	CAA	GCC2	-	NULL		0.373	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	C	NM_014635		109087433	+1	no_errors	ENST00000309863	ensembl	human	known	70_37	nonsense	SNP	0.030	T
GCC2	9648	genome.wustl.edu	37	2	109088372	109088372	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:109088372G>C	ENST00000309863.6	+	6	3301	c.2587G>C	c.(2587-2589)Gaa>Caa	p.E863Q		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	863					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TGATCTTCTAGAAATGAAGAA	0.328																																																	0													33.0	36.0	35.0					2																	109088372		2194	4298	6492	SO:0001583	missense	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2587G>C	2.37:g.109088372G>C	ENSP00000307939:p.Glu863Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.E863Q	ENST00000309863.6	37	c.2587	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411074	0.62399	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.47528	0.84	5.45	5.45	0.79879	.	0.188803	0.45126	D	0.000381	T	0.67069	0.2854	M	0.71581	2.175	0.40991	D	0.984857	D	0.76494	0.999	D	0.66084	0.941	T	0.62595	-0.6821	10	0.27082	T	0.32	.	19.6575	0.95849	0.0:0.0:1.0:0.0	.	863	Q8IWJ2	GCC2_HUMAN	Q	863;826;607	ENSP00000307939:E863Q	ENSP00000307939:E863Q	E	+	1	0	GCC2	108454804	1.000000	0.71417	0.979000	0.43373	0.985000	0.73830	4.983000	0.63832	2.728000	0.93425	0.650000	0.86243	GAA	GCC2	-	NULL		0.328	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	G	NM_014635		109088372	+1	no_errors	ENST00000309863	ensembl	human	known	70_37	missense	SNP	0.986	C
GCNT2	2651	genome.wustl.edu	37	6	10529685	10529685	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:10529685G>A	ENST00000379597.3	+	1	1097	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.E181K|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	181					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGTGGCCTCTGAAGTTCCCTG	0.498																																																	0													39.0	41.0	41.0					6																	10529685		2203	4300	6503	SO:0001583	missense	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.541G>A	6.37:g.10529685G>A	ENSP00000368917:p.Glu181Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Glyco_trans_14	p.E181K	ENST00000379597.3	37	c.541	CCDS34338.1	6	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.734341	0.00687	.	.	ENSG00000111846	ENST00000495262;ENST00000379597	T;T	0.11495	2.77;2.77	5.47	0.163	0.14986	.	0.721686	0.13341	N	0.395129	T	0.00906	0.0030	N	0.04508	-0.205	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.47100	-0.9143	10	0.02654	T	1	-22.9835	7.8151	0.29254	0.1445:0.3685:0.487:0.0	.	181;180	Q8N0V5;Q08M29	GNT2A_HUMAN;.	K	181	ENSP00000419411:E181K;ENSP00000368917:E181K	ENSP00000368917:E181K	E	+	1	0	GCNT2	10637671	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.827000	0.04424	-0.286000	0.09076	-0.304000	0.09214	GAA	GCNT2	-	pfam_Glyco_trans_14		0.498	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GCNT2	HGNC	protein_coding	OTTHUMT00000327912.3	G	NM_145649		10529685	+1	no_errors	ENST00000379597	ensembl	human	known	70_37	missense	SNP	0.000	A
GCNT3	9245	genome.wustl.edu	37	15	59910896	59910896	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:59910896G>C	ENST00000396065.1	+	3	907	c.459G>C	c.(457-459)gtG>gtC	p.V153V	GCNT3_ENST00000560585.1_Silent_p.V153V	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	153					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCGAGCTGTGTATGCCCCTC	0.433																																																	0													110.0	111.0	111.0					15																	59910896		2190	4290	6480	SO:0001819	synonymous_variant	9245			AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.459G>C	15.37:g.59910896G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Glyco_trans_14	p.V153	ENST00000396065.1	37	c.459	CCDS10172.1	15																																																																																			GCNT3	-	pfam_Glyco_trans_14		0.433	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT3	HGNC	protein_coding	OTTHUMT00000256068.1	G	NM_004751		59910896	+1	no_errors	ENST00000396065	ensembl	human	known	70_37	silent	SNP	1.000	C
RTFDC1	51507	genome.wustl.edu	37	20	55072244	55072244	+	Intron	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:55072244G>T	ENST00000023939.4	+	5	584				GCNT7_ENST00000243913.4_Missense_Mutation_p.H19N|RTFDC1_ENST00000357348.5_Intron|RTFDC1_ENST00000395881.3_Intron	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2	Q9BY42	RTF2_HUMAN	replication termination factor 2 domain containing 1																		TCATCAACATGAATACAATAA	0.373																																																	0													28.0	23.0	24.0					20																	55072244		692	1591	2283	SO:0001627	intron_variant	140687			AF161513	CCDS13453.1, CCDS63316.1, CCDS63317.1	20q13	2012-10-29	2012-10-29	2012-10-29	ENSG00000022277	ENSG00000022277			15890	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 43"""	C20orf43			Standard	NM_001283035		Approved	HSPC164, CDAO5	uc002xxt.2	Q9BY42	OTTHUMG00000032801	ENST00000023939.4:c.477+12999G>T	20.37:g.55072244G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3	Missense_Mutation	SNP	pfam_Glyco_trans_14	p.H19N	ENST00000023939.4	37	c.55	CCDS13453.1	20	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394951	0.83011	.	.	ENSG00000124091	ENST00000243913	T	0.14144	2.53	5.48	4.54	0.55810	.	0.094954	0.64402	D	0.000001	T	0.42562	0.1208	M	0.93720	3.45	0.58432	D	0.999994	D	0.58268	0.982	P	0.57057	0.812	T	0.60073	-0.7334	10	0.87932	D	0	.	14.738	0.69430	0.0699:0.0:0.9301:0.0	.	141	Q6ZNI0	GCNT7_HUMAN	N	19	ENSP00000243913:H19N	ENSP00000243913:H19N	H	-	1	0	GCNT7	54505651	1.000000	0.71417	0.962000	0.40283	0.978000	0.69477	7.793000	0.85851	1.435000	0.47434	0.650000	0.86243	CAT	GCNT7	-	pfam_Glyco_trans_14		0.373	RTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT7	HGNC	protein_coding	OTTHUMT00000079817.2	G	NM_016407		55072244	-1	no_errors	ENST00000243913	ensembl	human	putative	70_37	missense	SNP	1.000	T
GDPD5	81544	genome.wustl.edu	37	11	75154077	75154077	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:75154077G>C	ENST00000336898.3	-	11	1786				GDPD5_ENST00000533784.1_Intron|GDPD5_ENST00000443276.2_Intron|GDPD5_ENST00000529721.1_Intron|GDPD5_ENST00000376282.3_Intron|GDPD5_ENST00000533805.1_Intron|GDPD5_ENST00000526177.1_Intron	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5						cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CGAAAGCTCTGAGAGTGGGGG	0.572																																																	0																																										SO:0001627	intron_variant	81544			AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.948+103C>G	11.37:g.75154077G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	RNA	SNP	-	NULL	ENST00000336898.3	37	NULL	CCDS8238.1	11																																																																																			GDPD5	-	-		0.572	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD5	HGNC	protein_coding	OTTHUMT00000384409.1	G	NM_030792		75154077	-1	no_errors	ENST00000527322	ensembl	human	known	70_37	rna	SNP	0.000	C
GGH	8836	genome.wustl.edu	37	8	63927960	63927960	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:63927960C>T	ENST00000260118.6	-	9	1290	c.888G>A	c.(886-888)ttG>ttA	p.L296L	RP11-659E9.2_ENST00000524309.1_RNA	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	296	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	ACTGATAAATCAATGCTTTCT	0.284																																																	0													73.0	74.0	74.0					8																	63927960		2197	4294	6491	SO:0001819	synonymous_variant	8836			U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.888G>A	8.37:g.63927960C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Peptidase_C26,pfam_GATASE_1	p.L296	ENST00000260118.6	37	c.888	CCDS6177.1	8																																																																																			GGH	-	NULL		0.284	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGH	HGNC	protein_coding	OTTHUMT00000378453.1	C			63927960	-1	no_errors	ENST00000260118	ensembl	human	known	70_37	silent	SNP	0.999	T
GGNBP1	449520	genome.wustl.edu	37	6	33554563	33554563	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:33554563G>T	ENST00000374458.1	+	5	844	c.214G>T	c.(214-216)Gag>Tag	p.E72*	LINC00336_ENST00000477984.1_RNA			Q5YKI7	GGNB1_HUMAN	gametogenetin binding protein 1 (pseudogene)	72	Interaction with GGN. {ECO:0000250}.				cell differentiation (GO:0030154)|mitochondrial fission (GO:0000266)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)											CACCGTGGTGGAGGTGAGCAT	0.622																																																	0																																										SO:0001587	stop_gained	449520					6p21	2012-04-19	2012-04-19		ENSG00000204188	ENSG00000204188			19427	pseudogene	pseudogene		609495	"""gametogenetin binding protein 1"""			15642376	Standard	NR_028361		Approved		uc021ywq.1	Q5YKI7		ENST00000374458.1:c.214G>T	6.37:g.33554563G>T	ENSP00000363582:p.Glu72*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5YKI8	Nonsense_Mutation	SNP	NULL	p.E72*	ENST00000374458.1	37	c.214		6	.	.	.	.	.	.	.	.	.	.	G	36	5.619713	0.96660	.	.	ENSG00000204188	ENST00000374458	.	.	.	4.04	3.17	0.36434	.	0.403521	0.21060	N	0.080854	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.076	7.7168	0.28708	0.116:0.0:0.884:0.0	.	.	.	.	X	72	.	ENSP00000363582:E72X	E	+	1	0	GGNBP1	33662541	1.000000	0.71417	0.974000	0.42286	0.003000	0.03518	3.748000	0.55142	0.931000	0.37242	-0.300000	0.09419	GAG	GGNBP1	-	NULL		0.622	GGNBP1-201	KNOWN	basic|appris_principal	protein_coding	GGNBP1	HGNC	protein_coding		G			33554563	+1	no_errors	ENST00000374458	ensembl	human	known	70_37	nonsense	SNP	0.987	T
GGTLC2	91227	genome.wustl.edu	37	22	22988825	22988825	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:22988825G>A	ENST00000480559.1	+	1	10	c.10G>A	c.(10-12)Gag>Aag	p.E4K	POM121L1P_ENST00000402027.1_RNA|GGTLC2_ENST00000448514.1_Missense_Mutation_p.E4K	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	4					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		CATGACCTCTGAGTTCTTCGC	0.637																																																	0													20.0	20.0	20.0					22																	22988825		2156	4125	6281	SO:0001583	missense	91227			X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"""Gamma-glutamyltransferases"""	18596	protein-coding gene	gene with protein product		612339	"""gamma-glutamyltransferase-like 4"""	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.10G>A	22.37:g.22988825G>A	ENSP00000419751:p.Glu4Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A516|A2VCM9|Q5NV76|Q6ISH0	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.E4K	ENST00000480559.1	37	c.10	CCDS13802.2	22	.	.	.	.	.	.	.	.	.	.	g	9.468	1.094924	0.20471	.	.	ENSG00000100121	ENST00000480559;ENST00000448514	T;T	0.05447	3.44;3.44	.	.	.	.	0.233067	0.35739	U	0.003014	T	0.02494	0.0076	N	0.05554	-0.025	0.29963	N	0.819205	B;B	0.20368	0.044;0.044	B;B	0.29353	0.101;0.048	T	0.46034	-0.9220	9	0.05620	T	0.96	-6.3883	5.8178	0.18506	0.001:0.0:0.999:0.0	.	4;4	Q14390;B7WND7	GGTL2_HUMAN;.	K	4	ENSP00000419751:E4K;ENSP00000415676:E4K	ENSP00000415676:E4K	E	+	1	0	GGTLC2	21318825	0.999000	0.42202	0.000000	0.03702	0.000000	0.00434	3.376000	0.52417	-0.000000	0.14550	0.000000	0.15137	GAG	GGTLC2	-	pfam_GGT_peptidase		0.637	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	GGTLC2	HGNC	protein_coding	OTTHUMT00000321662.1	G	NM_199127		22988825	+1	no_errors	ENST00000448514	ensembl	human	known	70_37	missense	SNP	1.000	A
GGTLC2	91227	genome.wustl.edu	37	22	22988948	22988948	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:22988948G>C	ENST00000480559.1	+	1	133	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	POM121L1P_ENST00000402027.1_RNA|GGTLC2_ENST00000448514.1_Missense_Mutation_p.E45Q	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	45					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		TGTCGTCGCAGAGGACGGCAG	0.652																																																	0													19.0	10.0	13.0					22																	22988948		2184	4108	6292	SO:0001583	missense	91227			X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"""Gamma-glutamyltransferases"""	18596	protein-coding gene	gene with protein product		612339	"""gamma-glutamyltransferase-like 4"""	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.133G>C	22.37:g.22988948G>C	ENSP00000419751:p.Glu45Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A516|A2VCM9|Q5NV76|Q6ISH0	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.E45Q	ENST00000480559.1	37	c.133	CCDS13802.2	22	.	.	.	.	.	.	.	.	.	.	g	10.04	1.242167	0.22796	.	.	ENSG00000100121	ENST00000480559;ENST00000448514	T;T	0.08458	3.09;3.09	.	.	.	.	0.055721	0.64402	D	0.000001	T	0.07413	0.0187	L	0.52364	1.645	0.29172	N	0.877073	B;B	0.29232	0.238;0.205	B;B	0.32211	0.142;0.139	T	0.22382	-1.0218	9	0.28530	T	0.3	-41.8891	5.8178	0.18506	0.001:0.0:0.999:0.0	.	45;45	Q14390;B7WND7	GGTL2_HUMAN;.	Q	45	ENSP00000419751:E45Q;ENSP00000415676:E45Q	ENSP00000415676:E45Q	E	+	1	0	GGTLC2	21318948	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	3.115000	0.50391	-0.000000	0.14550	0.000000	0.15137	GAG	GGTLC2	-	pfam_GGT_peptidase,prints_GGT_peptidase		0.652	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	GGTLC2	HGNC	protein_coding	OTTHUMT00000321662.1	G	NM_199127		22988948	+1	no_errors	ENST00000448514	ensembl	human	known	70_37	missense	SNP	1.000	C
GIMAP6	474344	genome.wustl.edu	37	7	150325418	150325418	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:150325418C>G	ENST00000328902.5	-	3	484	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	90	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCTCAAGCTCCTTCCCAGCC	0.602																																																	0													112.0	113.0	113.0					7																	150325418		2203	4300	6503	SO:0001583	missense	474344			AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.268G>C	7.37:g.150325418C>G	ENSP00000330374:p.Glu90Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	pfam_AIG1	p.E90Q	ENST00000328902.5	37	c.268	CCDS34778.1	7	.	.	.	.	.	.	.	.	.	.	C	9.667	1.145601	0.21288	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.05925	3.37	4.29	0.0065	0.14067	AIG1 (1);	0.558247	0.19143	N	0.121647	T	0.03783	0.0107	L	0.35249	1.045	0.09310	N	1	B	0.14438	0.01	B	0.18871	0.023	T	0.42068	-0.9473	10	0.17832	T	0.49	.	2.6863	0.05108	0.18:0.3647:0.3507:0.1046	.	90	Q6P9H5	GIMA6_HUMAN	Q	90;151	ENSP00000330374:E90Q	ENSP00000330374:E90Q	E	-	1	0	GIMAP6	149956351	0.000000	0.05858	0.081000	0.20488	0.005000	0.04900	-0.352000	0.07701	0.418000	0.25898	-0.264000	0.10439	GAG	GIMAP6	-	pfam_AIG1		0.602	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP6	HGNC	protein_coding	OTTHUMT00000353457.1	C	NM_024711		150325418	-1	no_errors	ENST00000328902	ensembl	human	known	70_37	missense	SNP	0.000	G
GJB1	2705	genome.wustl.edu	37	X	70443861	70443861	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:70443861G>C	ENST00000374022.3	+	2	399	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	GJB1_ENST00000374029.1_Missense_Mutation_p.E102Q|GJB1_ENST00000361726.6_Missense_Mutation_p.E102Q	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	102			E -> G (in CMTX1; mild phenotype; increased sensitivity to acidification- induced closure). {ECO:0000269|PubMed:10873293, ECO:0000269|PubMed:11835375, ECO:0000269|PubMed:14627639, ECO:0000269|PubMed:8004109, ECO:0000269|PubMed:8737658, ECO:0000269|PubMed:9361298}.|Missing (in CMTX1). {ECO:0000269|PubMed:12707076}.		cell death (GO:0008219)|cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)|purine ribonucleotide transport (GO:0015868)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					GCAACACATAGAGAAGAAAAT	0.587																																																	0			GRCh37	CD031051|CM973201	GJB1	D|M							100.0	71.0	81.0					X																	70443861		2203	4300	6503	SO:0001583	missense	2705			X04325	CCDS14408.1	Xq13.1	2014-09-17	2007-01-16		ENSG00000169562	ENSG00000169562		"""Ion channels / Gap junction proteins (connexins)"""	4283	protein-coding gene	gene with protein product	"""Charcot-Marie-Tooth neuropathy, X-linked"", ""connexin 32"""	304040	"""gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)"", ""gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)"", ""gap junction protein, beta 1, 32kDa (connexin 32)"""	CMTX1, CMTX		1319395	Standard	NM_000166		Approved	CX32	uc004dzf.3	P08034	OTTHUMG00000021797	ENST00000374022.3:c.304G>C	X.37:g.70443861G>C	ENSP00000363134:p.Glu102Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8R2|D3DVV2|Q5U0S4	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin32	p.E102Q	ENST00000374022.3	37	c.304	CCDS14408.1	X	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742508	0.30865	.	.	ENSG00000169562	ENST00000374029;ENST00000374022;ENST00000361726	D;D;D	0.99150	-5.49;-5.49;-5.49	4.67	3.81	0.43845	Connexin, N-terminal (1);	0.188324	0.49305	D	0.000151	D	0.98343	0.9450	L	0.56280	1.765	0.50632	D	0.999881	P	0.47910	0.902	P	0.52343	0.696	D	0.98068	1.0397	10	0.72032	D	0.01	.	12.2486	0.54585	0.0842:0.0:0.9158:0.0	.	102	P08034	CXB1_HUMAN	Q	102	ENSP00000363141:E102Q;ENSP00000363134:E102Q;ENSP00000354900:E102Q	ENSP00000354900:E102Q	E	+	1	0	GJB1	70360586	1.000000	0.71417	0.844000	0.33320	0.085000	0.17905	6.556000	0.73932	0.995000	0.38917	-0.309000	0.09137	GAG	GJB1	-	pfam_Connexin_N		0.587	GJB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJB1	HGNC	protein_coding	OTTHUMT00000057133.1	G	NM_000166		70443861	+1	no_errors	ENST00000361726	ensembl	human	known	70_37	missense	SNP	0.995	C
GK5	256356	genome.wustl.edu	37	3	141905084	141905084	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:141905084G>A	ENST00000392993.2	-	8	858	c.707C>T	c.(706-708)tCt>tTt	p.S236F	GK5_ENST00000544571.1_Missense_Mutation_p.S236F	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	236					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						CGAAATTAGAGAGGTAATCAT	0.343																																																	0													124.0	120.0	121.0					3																	141905084		2203	4300	6503	SO:0001583	missense	256356			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.707C>T	3.37:g.141905084G>A	ENSP00000418001:p.Ser236Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C	p.S236F	ENST00000392993.2	37	c.707	CCDS33871.1	3	.	.	.	.	.	.	.	.	.	.	G	0.288	-0.981827	0.02197	.	.	ENSG00000175066	ENST00000392993;ENST00000544571	T;T	0.59638	0.25;0.25	4.83	2.89	0.33648	Carbohydrate kinase, FGGY, N-terminal (1);	0.337440	0.35378	N	0.003251	T	0.54481	0.1861	M	0.79926	2.475	0.35384	D	0.79019	B	0.13145	0.007	B	0.18263	0.021	T	0.62604	-0.6819	10	0.87932	D	0	-4.6465	4.8759	0.13656	0.0867:0.146:0.6177:0.1496	.	236	Q6ZS86	GLPK5_HUMAN	F	236	ENSP00000418001:S236F;ENSP00000440860:S236F	ENSP00000418001:S236F	S	-	2	0	GK5	143387774	0.997000	0.39634	0.361000	0.25849	0.069000	0.16628	1.992000	0.40737	1.153000	0.42468	0.655000	0.94253	TCT	GK5	-	pfam_Carb_kinase_FGGY_N		0.343	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK5	HGNC	protein_coding	OTTHUMT00000353999.1	G	NM_001039547		141905084	-1	no_errors	ENST00000392993	ensembl	human	known	70_37	missense	SNP	0.978	A
GLB1L	79411	genome.wustl.edu	37	2	220103037	220103037	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:220103037C>G	ENST00000295759.7	-	14	1589	c.1276G>C	c.(1276-1278)Gag>Cag	p.E426Q	GLB1L_ENST00000409640.1_Missense_Mutation_p.E336Q|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000356283.3_Missense_Mutation_p.E336Q|GLB1L_ENST00000392089.2_Missense_Mutation_p.E426Q			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	426					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGTTGGCTCAAAAATGGTA	0.463																																																	0													166.0	150.0	155.0					2																	220103037		2203	4300	6503	SO:0001583	missense	79411				CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1276G>C	2.37:g.220103037C>G	ENSP00000295759:p.Glu426Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96DR0	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.E426Q	ENST00000295759.7	37	c.1276	CCDS2437.1	2	.	.	.	.	.	.	.	.	.	.	C	12.28	1.892061	0.33442	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.97161	-4.27;-4.02;-4.27;-4.02	5.41	3.48	0.39840	.	0.485079	0.23670	N	0.045726	D	0.91784	0.7401	N	0.16833	0.445	0.19575	N	0.999967	B;B	0.28850	0.225;0.035	B;B	0.27262	0.078;0.017	T	0.83003	-0.0176	10	0.20519	T	0.43	-15.1073	12.6472	0.56742	0.0:0.847:0.0:0.153	.	336;426	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	Q	426;336;426;336	ENSP00000295759:E426Q;ENSP00000386354:E336Q;ENSP00000375939:E426Q;ENSP00000348628:E336Q	ENSP00000295759:E426Q	E	-	1	0	GLB1L	219811281	0.456000	0.25744	0.880000	0.34516	0.941000	0.58515	1.129000	0.31381	1.538000	0.49270	0.655000	0.94253	GAG	GLB1L	-	NULL		0.463	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L	HGNC	protein_coding	OTTHUMT00000256822.2	C	NM_024506		220103037	-1	no_errors	ENST00000295759	ensembl	human	known	70_37	missense	SNP	0.170	G
GLDC	2731	genome.wustl.edu	37	9	6605200	6605200	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:6605200G>C	ENST00000321612.6	-	6	942	c.792C>G	c.(790-792)ttC>ttG	p.F264L		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	264					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	CTGGGTACTGGAACAACACTC	0.498																																																	0													133.0	101.0	112.0					9																	6605200		2203	4300	6503	SO:0001583	missense	2731			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.792C>G	9.37:g.6605200G>C	ENSP00000370737:p.Phe264Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M2F8	Missense_Mutation	SNP	pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo	p.F264L	ENST00000321612.6	37	c.792	CCDS34987.1	9	.	.	.	.	.	.	.	.	.	.	G	4.523	0.097055	0.08681	.	.	ENSG00000178445	ENST00000321612	D	0.94862	-3.54	5.45	3.53	0.40419	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.047185	0.85682	D	0.000000	T	0.80904	0.4713	N	0.03050	-0.425	0.52501	D	0.999959	B	0.09022	0.002	B	0.14023	0.01	T	0.72040	-0.4410	10	0.02654	T	1	-20.5082	6.9619	0.24601	0.4165:0.0:0.5835:0.0	.	264	P23378	GCSP_HUMAN	L	264	ENSP00000370737:F264L	ENSP00000370737:F264L	F	-	3	2	GLDC	6595200	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.877000	0.39598	0.712000	0.32039	0.655000	0.94253	TTC	GLDC	-	pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo		0.498	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDC	HGNC	protein_coding	OTTHUMT00000051674.2	G	NM_000170		6605200	-1	no_errors	ENST00000321612	ensembl	human	known	70_37	missense	SNP	1.000	C
GLDN	342035	genome.wustl.edu	37	15	51689762	51689762	+	Missense_Mutation	SNP	C	C	T	rs375789151		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:51689762C>T	ENST00000335449.6	+	6	840	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	GLDN_ENST00000396399.2_Missense_Mutation_p.R138W	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	262	Pro-rich.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CAAAGGCCCTCGGCAGCCAAG	0.642																																																	0								C	TRP/ARG	0,4392		0,0,2196	32.0	42.0	38.0		784	4.2	1.0	15		38	1,8585	1.2+/-3.3	0,1,4292	no	missense	GLDN	NM_181789.2	101	0,1,6488	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	262/552	51689762	1,12977	2196	4293	6489	SO:0001583	missense	342035			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.784C>T	15.37:g.51689762C>T	ENSP00000335196:p.Arg262Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXZ7|Q7Z359	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like	p.R262W	ENST00000335449.6	37	c.784	CCDS10140.2	15	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358894	0.82353	0.0	1.16E-4	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.94376	-3.41;-3.41	5.17	4.25	0.50352	.	0.000000	0.38111	N	0.001819	D	0.94810	0.8324	M	0.83223	2.63	0.38221	D	0.940761	D	0.76494	0.999	P	0.56216	0.794	D	0.95049	0.8185	10	0.66056	D	0.02	.	7.4228	0.27081	0.1672:0.7487:0.0:0.0841	.	262	Q6ZMI3	GLDN_HUMAN	W	262;138;138	ENSP00000335196:R262W;ENSP00000379681:R138W	ENSP00000335196:R262W	R	+	1	2	GLDN	49477054	0.549000	0.26481	0.998000	0.56505	0.998000	0.95712	1.194000	0.32174	2.406000	0.81754	0.650000	0.86243	CGG	GLDN	-	NULL		0.642	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDN	HGNC	protein_coding	OTTHUMT00000254667.2	C	NM_181789		51689762	+1	no_errors	ENST00000335449	ensembl	human	known	70_37	missense	SNP	0.834	T
GLI2	2736	genome.wustl.edu	37	2	121746932	121746932	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:121746932G>C	ENST00000452319.1	+	14	3502	c.3442G>C	c.(3442-3444)Gag>Cag	p.E1148Q	GLI2_ENST00000314490.11_Missense_Mutation_p.E820Q|GLI2_ENST00000361492.4_Missense_Mutation_p.E1148Q					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCAGTGGAATGAGGTGAGCTC	0.627																																																	0													28.0	26.0	27.0					2																	121746932		2183	4267	6450	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3442G>C	2.37:g.121746932G>C	ENSP00000390436:p.Glu1148Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1148Q	ENST00000452319.1	37	c.3442	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632331	0.87660	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.28454	1.81;1.81;1.61	4.87	4.87	0.63330	.	0.153534	0.56097	D	0.000024	T	0.57873	0.2083	M	0.75777	2.31	0.53688	D	0.999974	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.999;0.998	T	0.62789	-0.6780	10	0.87932	D	0	.	18.2578	0.90025	0.0:0.0:1.0:0.0	.	1148;803;803;820	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	Q	1148;1148;820	ENSP00000390436:E1148Q;ENSP00000354586:E1148Q;ENSP00000312694:E820Q	ENSP00000312694:E820Q	E	+	1	0	GLI2	121463402	1.000000	0.71417	0.985000	0.45067	0.962000	0.63368	9.524000	0.98036	2.542000	0.85734	0.449000	0.29647	GAG	GLI2	-	NULL		0.627	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	G	NM_005270		121746932	+1	no_errors	ENST00000361492	ensembl	human	known	70_37	missense	SNP	1.000	C
GLIS1	148979	genome.wustl.edu	37	1	54059922	54059922	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:54059922C>T	ENST00000312233.2	-	3	1220	c.654G>A	c.(652-654)aaG>aaA	p.K218K		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CGATGTGGCTCTTCTCGATGT	0.672																																																	0													85.0	63.0	71.0					1																	54059922		2203	4300	6503	SO:0001819	synonymous_variant	148979			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.654G>A	1.37:g.54059922C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K218	ENST00000312233.2	37	c.654	CCDS582.1	1																																																																																			GLIS1	-	smart_Znf_C2H2-like		0.672	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS1	HGNC	protein_coding	OTTHUMT00000022109.1	C	NM_147193		54059922	-1	no_errors	ENST00000312233	ensembl	human	known	70_37	silent	SNP	1.000	T
GLIS3	169792	genome.wustl.edu	37	9	3898693	3898693	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:3898693G>A	ENST00000324333.10	-	6	1854	c.1661C>T	c.(1660-1662)tCa>tTa	p.S554L	GLIS3-AS1_ENST00000451340.2_RNA|GLIS3_ENST00000381971.3_Missense_Mutation_p.S709L|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	554					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTCTTTACCTGAATAGAGGTC	0.532																																																	0													59.0	58.0	58.0					9																	3898693		2203	4300	6503	SO:0001583	missense	169792			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1661C>T	9.37:g.3898693G>A	ENSP00000325494:p.Ser554Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AL19|Q1PHK5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S709L	ENST00000324333.10	37	c.2126	CCDS6451.1	9	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095841	0.56075	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.52295	0.67;0.67	5.62	5.62	0.85841	.	0.696585	0.12179	N	0.492247	T	0.38983	0.1061	N	0.12182	0.205	0.34758	D	0.732483	P;B;B;B;B	0.35272	0.493;0.146;0.054;0.0;0.047	B;B;B;B;B	0.36845	0.234;0.038;0.034;0.001;0.024	T	0.54794	-0.8240	10	0.66056	D	0.02	.	19.6588	0.95855	0.0:0.0:1.0:0.0	.	149;222;222;709;554	Q59FQ6;Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;.;GLIS3_HUMAN	L	554;709	ENSP00000325494:S554L;ENSP00000371398:S709L	ENSP00000325494:S554L	S	-	2	0	GLIS3	3888693	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	6.247000	0.72411	2.643000	0.89663	0.655000	0.94253	TCA	GLIS3	-	NULL		0.532	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	HGNC	protein_coding	OTTHUMT00000051559.1	G	NM_152629		3898693	-1	no_errors	ENST00000381971	ensembl	human	known	70_37	missense	SNP	1.000	A
GLRA3	8001	genome.wustl.edu	37	4	175644037	175644037	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:175644037C>T	ENST00000274093.3	-	4	994				GLRA3_ENST00000340217.5_Intron|GLRA3_ENST00000436738.1_5'UTR	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	gtgagattttcaaaaacaact	0.308																																																	0																																										SO:0001627	intron_variant	8001			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.491+5588G>A	4.37:g.175644037C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DP44|O75816|Q5D0E3	RNA	SNP	-	NULL	ENST00000274093.3	37	NULL	CCDS3822.1	4																																																																																			GLRA3	-	-		0.308	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	GLRA3	HGNC	protein_coding	OTTHUMT00000313427.1	C			175644037	-1	no_errors	ENST00000436738	ensembl	human	putative	70_37	rna	SNP	0.998	T
GLUL	2752	genome.wustl.edu	37	1	182355306	182355306	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:182355306G>C	ENST00000331872.6	-	4	1016				GLUL_ENST00000311223.5_Intron|GLUL_ENST00000339526.4_Intron|GLUL_ENST00000417584.2_Intron|GLUL_ENST00000491322.1_5'UTR	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase						cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	TCTTGATTCTGAAAGTCATTC	0.443																																																	0																																										SO:0001627	intron_variant	2752			AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.475+84C>G	1.37:g.182355306G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	RNA	SNP	-	NULL	ENST00000331872.6	37	NULL	CCDS1344.1	1																																																																																			GLUL	-	-		0.443	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUL	HGNC	protein_coding	OTTHUMT00000091043.1	G	NM_002065		182355306	-1	no_errors	ENST00000491322	ensembl	human	known	70_37	rna	SNP	0.000	C
GLYATL2	219970	genome.wustl.edu	37	11	58660238	58660238	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:58660238G>A	ENST00000533636.1	-	1	60				GLYATL1P2_ENST00000529451.1_RNA			Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2							endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AAGATATCCTGAAGCTCAATG	0.408																																																	0																																										SO:0001627	intron_variant	100129933			AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000533636.1:c.506+11390C>T	11.37:g.58660238G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5LGC7|Q86WC3|Q96AT2	RNA	SNP	-	NULL	ENST00000533636.1	37	NULL		11																																																																																			GLYATL1P2	-	-		0.408	GLYATL2-002	KNOWN	basic	processed_transcript	GLYATL1P2	HGNC	protein_coding	OTTHUMT00000394601.1	G	NM_145016		58660238	+1	no_errors	ENST00000529451	ensembl	human	known	70_37	rna	SNP	0.028	A
GLYATL2	219970	genome.wustl.edu	37	11	58660281	58660281	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:58660281G>A	ENST00000533636.1	-	1	60				GLYATL1P2_ENST00000529451.1_RNA			Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2							endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AAGTAGGGATGAGATAGGCCA	0.373																																																	0																																										SO:0001627	intron_variant	100129933			AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000533636.1:c.506+11347C>T	11.37:g.58660281G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5LGC7|Q86WC3|Q96AT2	RNA	SNP	-	NULL	ENST00000533636.1	37	NULL		11																																																																																			GLYATL1P2	-	-		0.373	GLYATL2-002	KNOWN	basic	processed_transcript	GLYATL1P2	HGNC	protein_coding	OTTHUMT00000394601.1	G	NM_145016		58660281	+1	no_errors	ENST00000529451	ensembl	human	known	70_37	rna	SNP	0.007	A
GLYR1	84656	genome.wustl.edu	37	16	4882065	4882065	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:4882065G>C	ENST00000321919.9	-	5	528	c.452C>G	c.(451-453)tCt>tGt	p.S151C	GLYR1_ENST00000381983.3_Missense_Mutation_p.S151C|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000591451.1_Missense_Mutation_p.S151C|GLYR1_ENST00000436648.5_Intron	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	151					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCTCTCTGAAGAGCCTGAAGA	0.517																																																	0													130.0	125.0	127.0					16																	4882065		2197	4300	6497	SO:0001583	missense	84656			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.452C>G	16.37:g.4882065G>C	ENSP00000322716:p.Ser151Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP	p.S151C	ENST00000321919.9	37	c.452	CCDS10524.1	16	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457448	0.63401	.	.	ENSG00000140632	ENST00000321919;ENST00000381983	T;T	0.65178	-0.13;-0.14	5.29	5.29	0.74685	.	0.289778	0.36200	N	0.002722	T	0.54240	0.1846	N	0.14661	0.345	0.42555	D	0.993126	P;P;P	0.48640	0.913;0.805;0.859	P;B;B	0.46585	0.521;0.394;0.322	T	0.63287	-0.6671	10	0.87932	D	0	-3.8116	18.0706	0.89405	0.0:0.0:1.0:0.0	.	151;151;151	Q49A26-3;Q49A26-2;Q49A26	.;.;GLYR1_HUMAN	C	151	ENSP00000322716:S151C;ENSP00000371413:S151C	ENSP00000322716:S151C	S	-	2	0	GLYR1	4822066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.770000	0.74990	2.634000	0.89283	0.650000	0.86243	TCT	GLYR1	-	NULL		0.517	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLYR1	HGNC	protein_coding	OTTHUMT00000251717.2	G	NM_032569		4882065	-1	no_errors	ENST00000321919	ensembl	human	known	70_37	missense	SNP	1.000	C
GMEB1	10691	genome.wustl.edu	37	1	29023524	29023524	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:29023524C>G	ENST00000294409.2	+	6	646	c.556C>G	c.(556-558)Ctg>Gtg	p.L186V	GMEB1_ENST00000361872.4_Missense_Mutation_p.L176V|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000373816.1_Missense_Mutation_p.L176V	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	186					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTGATCTTCTGATCAGCAG	0.488																																																	0													97.0	92.0	94.0					1																	29023524		2203	4300	6503	SO:0001583	missense	10691			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.556C>G	1.37:g.29023524C>G	ENSP00000294409:p.Leu186Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	p.L186V	ENST00000294409.2	37	c.556	CCDS327.1	1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960545	0.53400	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	T;T;T	0.56941	0.44;0.44;0.43	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.63165	0.2488	L	0.43923	1.385	0.31738	N	0.636229	D;D	0.63880	0.993;0.993	D;D	0.73708	0.952;0.981	T	0.59166	-0.7505	10	0.10636	T	0.68	-14.3814	17.971	0.89112	0.0:1.0:0.0:0.0	.	186;176	Q9Y692;B1AT47	GMEB1_HUMAN;.	V	176;152;176;186	ENSP00000362922:L176V;ENSP00000355186:L176V;ENSP00000294409:L186V	ENSP00000294409:L186V	L	+	1	2	GMEB1	28896111	0.992000	0.36948	1.000000	0.80357	0.990000	0.78478	2.112000	0.41892	2.542000	0.85734	0.561000	0.74099	CTG	GMEB1	-	NULL		0.488	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1	C	NM_006582		29023524	+1	no_errors	ENST00000294409	ensembl	human	known	70_37	missense	SNP	1.000	G
GNAS	2778	genome.wustl.edu	37	20	57428722	57428722	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:57428722C>T	ENST00000306120.3	+	1	212	c.212C>T	c.(211-213)tCg>tTg	p.S71L	GNAS_ENST00000371100.4_Silent_p.F134F|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Silent_p.F134F|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371102.4_Silent_p.F134F|GNAS_ENST00000371075.3_Intron			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TTGAGGCCTTCGGCCCAGCAC	0.617			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	0													30.0	35.0	33.0					20																	57428722		1886	4116	6002	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000306120.3:c.212C>T	20.37:g.57428722C>T	ENSP00000302237:p.Ser71Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	NULL	p.S71L	ENST00000306120.3	37	c.212		20	.	.	.	.	.	.	.	.	.	.	C	6.469	0.454760	0.12283	.	.	ENSG00000087460	ENST00000306120	.	.	.	4.6	-1.99	0.07457	.	.	.	.	.	T	0.34890	0.0913	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39901	-0.9591	5	0.72032	D	0.01	.	4.3842	0.11309	0.0:0.3557:0.308:0.3364	.	.	.	.	L	71	.	ENSP00000302237:S71L	S	+	2	0	GNAS	56862117	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.977000	0.03782	-0.412000	0.07519	-0.355000	0.07637	TCG	GNAS	-	NULL		0.617	GNAS-050	PUTATIVE	basic	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000267987.1	C	NM_000516		57428722	+1	no_errors	ENST00000306120	ensembl	human	putative	70_37	missense	SNP	0.000	T
GNB5	10681	genome.wustl.edu	37	15	52472036	52472036	+	Nonsense_Mutation	SNP	G	G	T	rs375782449		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:52472036G>T	ENST00000261837.7	-	3	232	c.167C>A	c.(166-168)tCg>tAg	p.S56*	GNB5_ENST00000560116.1_Nonsense_Mutation_p.S14*|RP11-430B1.2_ENST00000560518.1_lincRNA|GNB5_ENST00000396335.4_Nonsense_Mutation_p.S14*|GNB5_ENST00000358784.7_Nonsense_Mutation_p.S14*	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	56					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GCTCTTCAGCGACGCCAGCGT	0.711																																																	0													22.0	17.0	19.0					15																	52472036		2191	4291	6482	SO:0001587	stop_gained	10681			AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.167C>A	15.37:g.52472036G>T	ENSP00000261837:p.Ser56*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBR5|Q9HAU9|Q9UFT3	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep	p.S56*	ENST00000261837.7	37	c.167	CCDS10149.1	15	.	.	.	.	.	.	.	.	.	.	g	33	5.206719	0.95033	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000358784	.	.	.	4.16	4.16	0.48862	.	0.583978	0.18677	N	0.134268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-2.9744	16.4176	0.83746	0.0:0.0:1.0:0.0	.	.	.	.	X	56;14;14	.	ENSP00000261837:S56X	S	-	2	0	GNB5	50259328	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	4.932000	0.63476	2.015000	0.59207	0.454000	0.30748	TCG	GNB5	-	superfamily_WD40_repeat_dom,pirsf_Guanine_nucleotide-bd_bsu		0.711	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNB5	HGNC	protein_coding	OTTHUMT00000254842.1	G			52472036	-1	no_errors	ENST00000261837	ensembl	human	known	70_37	nonsense	SNP	1.000	T
GNS	2799	genome.wustl.edu	37	12	65130862	65130862	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:65130862C>G	ENST00000258145.3	-	9	1190	c.1020G>C	c.(1018-1020)aaG>aaC	p.K340N	GNS_ENST00000542058.1_Missense_Mutation_p.K320N|GNS_ENST00000418919.2_Missense_Mutation_p.K284N|GNS_ENST00000543646.1_Missense_Mutation_p.K372N	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	340			K -> R (in MPS3D). {ECO:0000269|PubMed:20232353}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ACAGCTGTCTCTTGTCTATTG	0.428																																																	0													114.0	110.0	111.0					12																	65130862		2203	4300	6503	SO:0001583	missense	2799				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1020G>C	12.37:g.65130862C>G	ENSP00000258145:p.Lys340Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYH8|Q53F05	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase	p.K340N	ENST00000258145.3	37	c.1020	CCDS8970.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.73|19.73	3.882599|3.882599	0.72410|0.72410	.|.	.|.	ENSG00000135677|ENSG00000135677	ENST00000540196|ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825;ENST00000545471	.|D;D;D;D	.|0.98329	.|-4.87;-4.87;-4.87;-4.87	5.49|5.49	0.522|0.522	0.17053|0.17053	.|Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99214|0.99214	0.9727|0.9727	H|H	0.98559|0.98559	4.265|4.265	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.999;1.0;0.999	D|D	0.98559|0.98559	1.0640|1.0640	5|9	.|.	.|.	.|.	-20.7307|-20.7307	9.6715|9.6715	0.40015|0.40015	0.0:0.3898:0.0:0.6102|0.0:0.3898:0.0:0.6102	.|.	.|320;372;340;284	.|B4DYH8;F6S8M0;P15586;Q7Z3X3	.|.;.;GNS_HUMAN;.	Q|N	160|284;340;372;320;257;277	.|ENSP00000413130:K284N;ENSP00000258145:K340N;ENSP00000438497:K372N;ENSP00000444819:K320N	.|.	E|K	-|-	1|3	0|2	GNS|GNS	63417129|63417129	0.999000|0.999000	0.42202|0.42202	0.964000|0.964000	0.40570|0.40570	0.968000|0.968000	0.65278|0.65278	0.789000|0.789000	0.26886|0.26886	-0.075000|-0.075000	0.12798|0.12798	0.555000|0.555000	0.69702|0.69702	GAG|AAG	GNS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase		0.428	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GNS	HGNC	protein_coding	OTTHUMT00000401195.2	C			65130862	-1	no_errors	ENST00000258145	ensembl	human	known	70_37	missense	SNP	0.960	G
GNS	2799	genome.wustl.edu	37	12	65141672	65141672	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:65141672G>A	ENST00000258145.3	-	3	449	c.279C>T	c.(277-279)ccC>ccT	p.P93P	GNS_ENST00000542058.1_Silent_p.P73P|GNS_ENST00000418919.2_Silent_p.P37P|GNS_ENST00000543646.1_Silent_p.P125P	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	93					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		TGGCTCTGCTGGGGCAGCAGA	0.458																																																	0													121.0	111.0	114.0					12																	65141672		2203	4300	6503	SO:0001819	synonymous_variant	2799				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.279C>T	12.37:g.65141672G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYH8|Q53F05	Silent	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase	p.P93	ENST00000258145.3	37	c.279	CCDS8970.1	12																																																																																			GNS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase		0.458	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GNS	HGNC	protein_coding	OTTHUMT00000401195.2	G			65141672	-1	no_errors	ENST00000258145	ensembl	human	known	70_37	silent	SNP	0.374	A
TTC41P	253724	genome.wustl.edu	37	12	104238044	104238044	+	3'UTR	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:104238044G>T	ENST00000551650.1	+	0	276																											ACATTGCAGAGCTCACTGTAT	0.418																																																	0																																										SO:0001624	3_prime_UTR_variant	253724																														ENST00000551650.1:c.*60G>T	12.37:g.104238044G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000551650.1	37	NULL		12																																																																																			RP11-642P15.1	-	-		0.418	RP11-650K20.3-001	PUTATIVE	basic|appris_principal	protein_coding	GNN	Clone_based_vega_gene	protein_coding	OTTHUMT00000407237.1	G			104238044	-1	no_errors	ENST00000548527	ensembl	human	known	70_37	rna	SNP	0.083	T
GOLGA1	2800	genome.wustl.edu	37	9	127640716	127640716	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:127640716C>T	ENST00000373555.4	-	0	4730					NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1						protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						CAGCAGTTTTCAAGAATACAA	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	2800			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.*2093G>A	9.37:g.127640716C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T164|Q8IYZ9	RNA	SNP	-	NULL	ENST00000373555.4	37	NULL	CCDS6860.1	9																																																																																			GOLGA1	-	-		0.378	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA1	HGNC	protein_coding	OTTHUMT00000054049.1	C	NM_002077		127640716	-1	no_errors	ENST00000475407	ensembl	human	known	70_37	rna	SNP	0.997	T
GOLGA3	2802	genome.wustl.edu	37	12	133384852	133384852	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:133384852G>C	ENST00000450791.2	-	4	986	c.803C>G	c.(802-804)tCt>tGt	p.S268C	GOLGA3_ENST00000456883.2_Missense_Mutation_p.S268C|GOLGA3_ENST00000204726.3_Missense_Mutation_p.S268C|GOLGA3_ENST00000537452.1_Missense_Mutation_p.S268C|GOLGA3_ENST00000545875.1_Missense_Mutation_p.S268C			Q08378	GOGA3_HUMAN	golgin A3	268					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		ACCCTTGGTAGAATCGGGAGC	0.527																																																	0													132.0	144.0	140.0					12																	133384852		2203	4300	6503	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.803C>G	12.37:g.133384852G>C	ENSP00000410378:p.Ser268Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.S268C	ENST00000450791.2	37	c.803	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	G	8.219	0.801997	0.16397	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.23	4.33	0.51752	.	0.684102	0.15269	N	0.271379	T	0.30008	0.0751	L	0.54323	1.7	0.32329	N	0.561287	B;B;B	0.16166	0.01;0.006;0.016	B;B;B	0.18871	0.007;0.005;0.023	T	0.32052	-0.9921	10	0.51188	T	0.08	.	10.1307	0.42676	0.0808:0.1395:0.7797:0.0	.	268;268;268	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	C	268	ENSP00000204726:S268C;ENSP00000410378:S268C;ENSP00000409303:S268C;ENSP00000442143:S268C;ENSP00000442603:S268C	ENSP00000204726:S268C	S	-	2	0	GOLGA3	131894925	0.043000	0.20138	0.001000	0.08648	0.170000	0.22686	2.290000	0.43531	1.317000	0.45149	0.585000	0.79938	TCT	GOLGA3	-	NULL		0.527	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	G	NM_005895		133384852	-1	no_errors	ENST00000204726	ensembl	human	known	70_37	missense	SNP	0.011	C
GOLGA4	2803	genome.wustl.edu	37	3	37284995	37284995	+	5'UTR	SNP	C	C	T	rs573137246		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:37284995C>T	ENST00000361924.2	+	0	328				GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000444882.1_5'UTR|RP11-259K5.2_ENST00000604992.1_RNA|GOLGA4_ENST00000356847.4_5'UTR	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4						Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCCGGGCTCTCGCCCTTCAGG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		15319	0.0		0.001	False		,,,				2504	0.0																0													20.0	22.0	21.0					3																	37284995		2202	4299	6501	SO:0001623	5_prime_UTR_variant	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.-47C>T	3.37:g.37284995C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	RNA	SNP	-	NULL	ENST00000361924.2	37	NULL	CCDS2666.1	3																																																																																			GOLGA4	-	-		0.632	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	C	NM_002078		37284995	+1	no_errors	ENST00000419177	ensembl	human	known	70_37	rna	SNP	0.005	T
GOLGA8T	653075	genome.wustl.edu	37	15	30435872	30435872	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:30435872C>T	ENST00000569052.1	+	14	1264	c.1264C>T	c.(1264-1266)Ctc>Ttc	p.L422F	RN7SL469P_ENST00000491512.2_RNA|AC120045.2_ENST00000408858.1_RNA					golgin A8 family, member T																		CCTCATGGCTCTCCCTGGGGA	0.607																																																	0																																										SO:0001583	missense	653075					15q13.2	2013-01-17			ENSG00000261247	ENSG00000261247			44410	other	unknown							Standard	NR_033933		Approved		uc021sha.1		OTTHUMG00000175638	ENST00000569052.1:c.1264C>T	15.37:g.30435872C>T	ENSP00000455826:p.Leu422Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.L422F	ENST00000569052.1	37	c.1264		15																																																																																			GOLGA8T	-	NULL		0.607	GOLGA8T-001	NOVEL	basic|appris_principal	protein_coding	GOLGA8T	HGNC	protein_coding	OTTHUMT00000430690.1	C	NR_033933		30435872	+1	no_errors	ENST00000569052	ensembl	human	novel	70_37	missense	SNP	0.648	T
GOLGA8B	440270	genome.wustl.edu	37	15	34825220	34825220	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:34825220C>G	ENST00000342314.5	-	3	266				GOLGA8B_ENST00000438958.2_Missense_Mutation_p.E68Q|GOLGA8B_ENST00000267731.7_Intron|GOLGA8A_ENST00000543376.1_Intron	NM_001023567.4	NP_001018861.3	A8MQT2	GOG8B_HUMAN	golgin A8 family, member B							Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)	1		all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TGGGCTGTCTCAGCTGGCAGA	0.657																																																	0																																										SO:0001627	intron_variant	440270			AF164622	CCDS45211.1	15q14	2011-10-25	2010-02-12		ENSG00000215252	ENSG00000215252			31973	protein-coding gene	gene with protein product		609619	"""golgi autoantigen, golgin subfamily a, 8B"""				Standard	NM_001023567		Approved		uc001ziq.3	A8MQT2	OTTHUMG00000129549	ENST00000342314.5:c.169-57G>C	15.37:g.34825220C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLZ2|O94937|Q2M3S9|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	NULL	p.E68Q	ENST00000342314.5	37	c.202	CCDS45211.1	15	.	.	.	.	.	.	.	.	.	.	c	5.140	0.211507	0.09757	.	.	ENSG00000215252	ENST00000438958	T	0.08807	3.05	1.33	1.33	0.21861	.	.	.	.	.	T	0.07007	0.0178	.	.	.	0.18873	N	0.999984	.	.	.	.	.	.	T	0.40117	-0.9580	5	.	.	.	.	6.1002	0.20043	0.0:1.0:0.0:0.0	.	.	.	.	Q	68	ENSP00000400063:E68Q	.	E	-	1	0	GOLGA8B	32612512	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	0.938000	0.28965	1.038000	0.40049	0.184000	0.17185	GAG	GOLGA8B	-	NULL		0.657	GOLGA8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA8B	HGNC	protein_coding	OTTHUMT00000251739.2	C	NM_001023567		34825220	-1	no_errors	ENST00000438958	ensembl	human	known	70_37	missense	SNP	1.000	G
GOLGB1	2804	genome.wustl.edu	37	3	121415989	121415989	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:121415989G>C	ENST00000340645.5	-	13	3491	c.3366C>G	c.(3364-3366)atC>atG	p.I1122M	GOLGB1_ENST00000393667.3_Missense_Mutation_p.I1127M	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1122					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTAACTTCTGGATAATTGCTT	0.413																																																	0													201.0	177.0	185.0					3																	121415989		2203	4299	6502	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3366C>G	3.37:g.121415989G>C	ENSP00000341848:p.Ile1122Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.I1122M	ENST00000340645.5	37	c.3366	CCDS3004.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.577|7.577	0.668005|0.668005	0.14710|0.14710	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.25250|.	2.4;2.4;1.81|.	5.1|5.1	1.72|1.72	0.24424|0.24424	.|.	0.194699|.	0.36628|.	N|.	0.002483|.	T|T	0.48132|0.48132	0.1483|0.1483	L|L	0.46157|0.46157	1.445|1.445	0.34319|0.34319	D|D	0.686302|0.686302	D;D;D;D;D|.	0.89917|.	0.999;0.999;1.0;0.999;0.999|.	D;D;D;D;D|.	0.85130|.	0.994;0.996;0.997;0.996;0.952|.	T|T	0.53222|0.53222	-0.8469|-0.8469	10|5	0.30854|.	T|.	0.27|.	.|.	7.0713|7.0713	0.25179|0.25179	0.4409:0.0:0.5591:0.0|0.4409:0.0:0.5591:0.0	.|.	1047;1086;1127;1127;1122|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	M|C	1122;1127;1086;934|993	ENSP00000341848:I1122M;ENSP00000377275:I1127M;ENSP00000418231:I1086M|.	ENSP00000341848:I1122M|.	I|S	-|-	3|2	3|0	GOLGB1|GOLGB1	122898679|122898679	0.996000|0.996000	0.38824|0.38824	0.998000|0.998000	0.56505|0.56505	0.661000|0.661000	0.39034|0.39034	0.261000|0.261000	0.18442|0.18442	0.132000|0.132000	0.18615|0.18615	0.561000|0.561000	0.74099|0.74099	ATC|TCC	GOLGB1	-	superfamily_Prefoldin		0.413	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	G	NM_004487		121415989	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.999	C
GOLGB1	2804	genome.wustl.edu	37	3	121435699	121435699	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:121435699C>G	ENST00000340645.5	-	9	1283	c.1158G>C	c.(1156-1158)aaG>aaC	p.K386N	GOLGB1_ENST00000393667.3_Missense_Mutation_p.K391N	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	386					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTTGTCCAGTCTTTTGAAGAC	0.458																																																	0													126.0	116.0	119.0					3																	121435699		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1158G>C	3.37:g.121435699C>G	ENSP00000341848:p.Lys386Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.K386N	ENST00000340645.5	37	c.1158	CCDS3004.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.971|6.971	0.549204|0.549204	0.13374|0.13374	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.25912|.	2.36;2.36;1.77|.	6.07|6.07	2.12|2.12	0.27331|0.27331	.|.	0.270884|.	0.32372|.	N|.	0.006196|.	T|T	0.43500|0.43500	0.1250|0.1250	M|M	0.70595|0.70595	2.14|2.14	0.28488|0.28488	N|N	0.914602|0.914602	D;D;D;D;D|.	0.56746|.	0.959;0.977;0.959;0.959;0.959|.	P;P;P;P;P|.	0.53593|.	0.647;0.73;0.647;0.647;0.647|.	T|T	0.43212|0.43212	-0.9405|-0.9405	10|5	0.59425|.	D|.	0.04|.	.|.	2.591|2.591	0.04842|0.04842	0.1521:0.5421:0.147:0.1588|0.1521:0.5421:0.147:0.1588	.|.	311;350;391;391;386|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	N|T	386;391;350;198|257	ENSP00000341848:K386N;ENSP00000377275:K391N;ENSP00000418231:K350N|.	ENSP00000341848:K386N|.	K|R	-|-	3|2	2|0	GOLGB1|GOLGB1	122918389|122918389	0.011000|0.011000	0.17503|0.17503	0.905000|0.905000	0.35620|0.35620	0.012000|0.012000	0.07955|0.07955	-0.232000|-0.232000	0.09055|0.09055	0.456000|0.456000	0.26937|0.26937	-0.844000|-0.844000	0.03045|0.03045	AAG|AGA	GOLGB1	-	NULL		0.458	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121435699	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.735	G
GON4L	54856	genome.wustl.edu	37	1	155823271	155823271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155823271G>A	ENST00000368331.1	-	2	349	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	GON4L_ENST00000437809.1_Nonsense_Mutation_p.Q101*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q101*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.Q101*|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	101					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTGATTCCCTGAGAGATGGCC	0.443																																																	0													174.0	162.0	166.0					1																	155823271		2203	4300	6503	SO:0001587	stop_gained	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.301C>T	1.37:g.155823271G>A	ENSP00000357315:p.Gln101*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Nonsense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.Q101*	ENST00000368331.1	37	c.301		1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785221	0.90282	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	.	.	.	4.48	3.55	0.40652	.	0.169473	0.28683	N	0.014493	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.5912	0.39548	0.0:0.0:0.7907:0.2092	.	.	.	.	X	101	.	ENSP00000271883:Q101X	Q	-	1	0	GON4L	154089895	1.000000	0.71417	0.996000	0.52242	0.588000	0.36517	2.676000	0.46883	1.061000	0.40601	0.561000	0.74099	CAG	GON4L	-	NULL		0.443	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		G	NM_032292		155823271	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	nonsense	SNP	1.000	A
GON4L	54856	genome.wustl.edu	37	1	155823273	155823273	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155823273G>A	ENST00000368331.1	-	2	347	c.299C>T	c.(298-300)tCt>tTt	p.S100F	GON4L_ENST00000437809.1_Missense_Mutation_p.S100F|GON4L_ENST00000271883.5_Missense_Mutation_p.S100F|GON4L_ENST00000361040.5_Missense_Mutation_p.S100F|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	100					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GATTCCCTGAGAGATGGCCAC	0.453																																																	0													176.0	165.0	169.0					1																	155823273		2203	4300	6503	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.299C>T	1.37:g.155823273G>A	ENSP00000357315:p.Ser100Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.S100F	ENST00000368331.1	37	c.299		1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293807	0.60086	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.14640	2.69;2.69;2.69;2.49	4.48	4.48	0.54585	.	0.159482	0.30201	N	0.010166	T	0.10252	0.0251	L	0.34521	1.04	0.30860	N	0.733601	P;P;P	0.48503	0.899;0.856;0.911	P;P;P	0.52554	0.471;0.507;0.702	T	0.01420	-1.1359	10	0.62326	D	0.03	.	12.5216	0.56062	0.0:0.0:1.0:0.0	.	100;100;100	Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	F	100	ENSP00000396117:S100F;ENSP00000357315:S100F;ENSP00000271883:S100F;ENSP00000354322:S100F	ENSP00000271883:S100F	S	-	2	0	GON4L	154089897	1.000000	0.71417	0.974000	0.42286	0.592000	0.36648	4.200000	0.58433	2.308000	0.77769	0.561000	0.74099	TCT	GON4L	-	NULL		0.453	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		G	NM_032292		155823273	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	missense	SNP	0.972	A
GORASP2	26003	genome.wustl.edu	37	2	171786164	171786164	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:171786164C>G	ENST00000234160.4	+	1	878				GORASP2_ENST00000493692.1_Intron|GORASP2_ENST00000452526.2_Intron	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa						mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						GCCGGCGACTCGGCCAGGGGG	0.687																																																	0																																										SO:0001627	intron_variant	26003				CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"""golgi reassembly stacking protein 2, 55 kDa"""			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.63+251C>G	2.37:g.171786164C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	RNA	SNP	-	NULL	ENST00000234160.4	37	NULL	CCDS33325.1	2																																																																																			GORASP2	-	-		0.687	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GORASP2	HGNC	protein_coding	OTTHUMT00000333719.2	C			171786164	+1	no_errors	ENST00000497928	ensembl	human	known	70_37	rna	SNP	0.002	G
GPATCH3	63906	genome.wustl.edu	37	1	27223845	27223845	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:27223845C>G	ENST00000361720.5	-	2	846	c.823G>C	c.(823-825)Gag>Cag	p.E275Q		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	275	Glu-rich.						nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTCAGGCTCTCCACAGGGG	0.537																																																	0													180.0	179.0	179.0					1																	27223845		2203	4300	6503	SO:0001583	missense	63906			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.823G>C	1.37:g.27223845C>G	ENSP00000354645:p.Glu275Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.E275Q	ENST00000361720.5	37	c.823	CCDS290.1	1	.	.	.	.	.	.	.	.	.	.	C	8.397	0.841022	0.16891	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000374122	T	0.48522	0.81	4.65	1.57	0.23409	.	0.878054	0.09995	N	0.729153	T	0.31482	0.0798	L	0.35723	1.085	0.09310	N	1	B	0.24132	0.098	B	0.17433	0.018	T	0.20974	-1.0259	10	0.23302	T	0.38	-1.3208	3.7889	0.08712	0.3393:0.4771:0.0:0.1836	.	275	Q96I76	GPTC3_HUMAN	Q	275;257;86	ENSP00000354645:E275Q	ENSP00000354645:E275Q	E	-	1	0	GPATCH3	27096432	0.425000	0.25498	0.003000	0.11579	0.007000	0.05969	2.330000	0.43885	0.556000	0.29098	-0.181000	0.13052	GAG	GPATCH3	-	NULL		0.537	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH3	HGNC	protein_coding	OTTHUMT00000012181.1	C	NM_022078		27223845	-1	no_errors	ENST00000361720	ensembl	human	known	70_37	missense	SNP	0.100	G
GPBP1	65056	genome.wustl.edu	37	5	56542956	56542956	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:56542956C>T	ENST00000506184.2	+	8	1823	c.718C>T	c.(718-720)Cat>Tat	p.H240Y	GPBP1_ENST00000511209.1_Missense_Mutation_p.H247Y|GPBP1_ENST00000514387.2_Missense_Mutation_p.H69Y|GPBP1_ENST00000264779.6_Missense_Mutation_p.H247Y|GPBP1_ENST00000424459.3_Missense_Mutation_p.H260Y|GPBP1_ENST00000538707.1_Missense_Mutation_p.H247Y|GPBP1_ENST00000454432.2_Missense_Mutation_p.H260Y			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	240					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TTCTTTCCCTCATGAGTCCAC	0.343																																																	0													83.0	80.0	81.0					5																	56542956		2202	4300	6502	SO:0001583	missense	65056				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.718C>T	5.37:g.56542956C>T	ENSP00000421202:p.His240Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	NULL	p.H260Y	ENST00000506184.2	37	c.778	CCDS34162.1	5	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873343	0.51695	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.44482	1.92;0.92;1.93;1.92;1.92;1.93;1.93	5.43	3.54	0.40534	.	0.170150	0.53938	D	0.000045	T	0.34135	0.0887	L	0.36672	1.1	0.34523	D	0.708355	P;P;P;P	0.49090	0.919;0.838;0.669;0.736	B;B;B;B	0.43809	0.432;0.093;0.065;0.093	T	0.42716	-0.9435	10	0.16420	T	0.52	-4.0892	14.3083	0.66397	0.0:0.7191:0.2809:0.0	.	260;247;247;240	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	Y	260;69;240;260;247;247;247	ENSP00000401596:H260Y;ENSP00000421709:H69Y;ENSP00000421202:H240Y;ENSP00000403522:H260Y;ENSP00000422337:H247Y;ENSP00000264779:H247Y;ENSP00000440090:H247Y	ENSP00000264779:H247Y	H	+	1	0	GPBP1	56578713	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.255000	0.51484	1.266000	0.44231	0.561000	0.74099	CAT	GPBP1	-	NULL		0.343	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPBP1	HGNC	protein_coding	OTTHUMT00000374496.1	C	NM_022913		56542956	+1	no_errors	ENST00000424459	ensembl	human	known	70_37	missense	SNP	1.000	T
GPR113	165082	genome.wustl.edu	37	2	26534593	26534593	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:26534593G>A	ENST00000311519.1	-	11	2002	c.2003C>T	c.(2002-2004)tCa>tTa	p.S668L	GPR113_ENST00000421160.2_Missense_Mutation_p.S599L|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Missense_Mutation_p.S469L|GPR113_ENST00000541401.1_Missense_Mutation_p.S271L	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	668					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCATAGTTTGAGGGCAGAAG	0.552																																																	0													50.0	50.0	50.0					2																	26534593		2203	4300	6503	SO:0001583	missense	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2003C>T	2.37:g.26534593G>A	ENSP00000307831:p.Ser668Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S469L	ENST00000311519.1	37	c.1406	CCDS46239.1	2	.	.	.	.	.	.	.	.	.	.	G	6.860	0.527961	0.13127	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	5.84	1.16	0.20824	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.11153	0.0272	M	0.62723	1.935	0.09310	N	1	B;B;B;B	0.23249	0.082;0.067;0.082;0.024	B;B;B;B	0.25987	0.065;0.039;0.065;0.022	T	0.33574	-0.9863	9	0.54805	T	0.06	-1.3422	2.546	0.04737	0.1042:0.1501:0.2829:0.4629	.	599;469;668;271	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	L	271;469;599;668	ENSP00000445729:S271L;ENSP00000327396:S469L;ENSP00000388537:S599L;ENSP00000307831:S668L	ENSP00000307831:S668L	S	-	2	0	GPR113	26388097	0.000000	0.05858	0.019000	0.16419	0.275000	0.26752	0.196000	0.17176	0.763000	0.33175	-0.181000	0.13052	TCA	GPR113	-	pfam_DUF3497		0.552	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000316892.1	G	NM_153835		26534593	-1	no_errors	ENST00000333478	ensembl	human	known	70_37	missense	SNP	0.001	A
GPR113	165082	genome.wustl.edu	37	2	26534708	26534708	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:26534708G>A	ENST00000311519.1	-	11	1887	c.1888C>T	c.(1888-1890)Cgg>Tgg	p.R630W	GPR113_ENST00000421160.2_Missense_Mutation_p.R561W|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Missense_Mutation_p.R431W|GPR113_ENST00000541401.1_Missense_Mutation_p.R233W	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	630					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGGGGGCCGAGTAGGGAAG	0.552																																																	0													43.0	39.0	40.0					2																	26534708		2203	4300	6503	SO:0001583	missense	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1888C>T	2.37:g.26534708G>A	ENSP00000307831:p.Arg630Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.R431W	ENST00000311519.1	37	c.1291	CCDS46239.1	2	.	.	.	.	.	.	.	.	.	.	G	1.298	-0.605609	0.03717	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.69	2.9	0.33743	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.04952	0.0133	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.18310	0.002;0.027;0.002;0.001	B;B;B;B	0.20577	0.009;0.03;0.013;0.001	T	0.38373	-0.9664	9	0.62326	D	0.03	-0.2444	5.8556	0.18718	0.2252:0.1405:0.6343:0.0	.	561;431;630;233	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	W	233;431;561;630	ENSP00000445729:R233W;ENSP00000327396:R431W;ENSP00000388537:R561W;ENSP00000307831:R630W	ENSP00000307831:R630W	R	-	1	2	GPR113	26388212	0.150000	0.22732	0.008000	0.14137	0.002000	0.02628	1.690000	0.37711	0.334000	0.23590	-0.150000	0.13652	CGG	GPR113	-	pfam_DUF3497		0.552	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000316892.1	G	NM_153835		26534708	-1	no_errors	ENST00000333478	ensembl	human	known	70_37	missense	SNP	0.036	A
GPR114	221188	genome.wustl.edu	37	16	57609400	57609400	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:57609400G>A	ENST00000340339.4	+	12	2060	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.E513K	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	513					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CTCAGAAGCAGAGGCCAAGGC	0.602																																																	0													69.0	62.0	64.0					16																	57609400		2198	4300	6498	SO:0001583	missense	221188			AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.1537G>A	16.37:g.57609400G>A	ENSP00000342981:p.Glu513Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.E513K	ENST00000340339.4	37	c.1537	CCDS10785.1	16	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845580	0.51164	.	.	ENSG00000159618	ENST00000340339	T	0.31510	1.49	4.41	2.39	0.29439	.	.	.	.	.	T	0.27384	0.0672	L	0.52905	1.665	0.09310	N	1	B	0.23058	0.079	B	0.21917	0.037	T	0.20874	-1.0262	9	0.48119	T	0.1	.	6.9172	0.24367	0.2884:0.0:0.7116:0.0	.	513	Q8IZF4	GP114_HUMAN	K	513	ENSP00000342981:E513K	ENSP00000342981:E513K	E	+	1	0	GPR114	56166901	0.091000	0.21658	0.044000	0.18714	0.560000	0.35617	0.619000	0.24388	0.988000	0.38734	0.491000	0.48974	GAG	GPR114	-	NULL		0.602	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR114	HGNC	protein_coding	OTTHUMT00000257336.3	G	NM_153837		57609400	+1	no_errors	ENST00000340339	ensembl	human	known	70_37	missense	SNP	0.029	A
GPR125	166647	genome.wustl.edu	37	4	22403111	22403111	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:22403111G>A	ENST00000334304.5	-	16	2693	c.2424C>T	c.(2422-2424)acC>acT	p.T808T	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	808					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGACCACACAGGTTAGGAAAA	0.383																																																	0													112.0	107.0	109.0					4																	22403111		2203	4300	6503	SO:0001819	synonymous_variant	166647			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2424C>T	4.37:g.22403111G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.T808	ENST00000334304.5	37	c.2424	CCDS33964.1	4																																																																																			GPR125	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.383	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	G			22403111	-1	no_errors	ENST00000334304	ensembl	human	known	70_37	silent	SNP	1.000	A
GPR143	4935	genome.wustl.edu	37	X	9693818	9693818	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:9693818C>G	ENST00000467482.1	-	9	1329	c.1183G>C	c.(1183-1185)Gac>Cac	p.D395H	GPR143_ENST00000380929.2_Missense_Mutation_p.D415H			P51810	GP143_HUMAN	G protein-coupled receptor 143	395					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				AGAGCAGGGTCACCCTCATTT	0.473																																																	0													193.0	145.0	161.0					X																	9693818		2203	4300	6503	SO:0001583	missense	4935			Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.1183G>C	X.37:g.9693818C>G	ENSP00000417161:p.Asp395His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NTI7	Missense_Mutation	SNP	pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1	p.D415H	ENST00000467482.1	37	c.1243	CCDS14134.2	X	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320709	0.41096	.	.	ENSG00000101850	ENST00000467482;ENST00000380929	D;D	0.99458	-5.93;-5.93	4.27	1.32	0.21799	.	1.114580	0.06840	N	0.795472	D	0.97911	0.9313	L	0.43152	1.355	0.09310	N	1	P	0.37573	0.6	B	0.39119	0.291	D	0.96078	0.9051	10	0.66056	D	0.02	-7.032	3.3732	0.07228	0.174:0.5599:0.1657:0.1004	.	395	P51810	GP143_HUMAN	H	395;415	ENSP00000417161:D395H;ENSP00000370316:D415H	ENSP00000370316:D415H	D	-	1	0	GPR143	9653818	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.326000	0.19646	-0.070000	0.12908	0.429000	0.28392	GAC	GPR143	-	pfam_Ocular_alb1		0.473	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR143	HGNC	protein_coding	OTTHUMT00000055714.2	C	NM_000273		9693818	-1	no_errors	ENST00000380929	ensembl	human	known	70_37	missense	SNP	0.000	G
GPR156	165829	genome.wustl.edu	37	3	119962888	119962888	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:119962888C>T	ENST00000464295.1	-	2	503	c.58G>A	c.(58-60)Gat>Aat	p.D20N	GPR156_ENST00000315843.3_Missense_Mutation_p.D20N|GPR156_ENST00000461057.1_Missense_Mutation_p.D20N			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGTCTCCGATCCAGCTCCTGG	0.512											OREG0015730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													126.0	103.0	111.0					3																	119962888		2203	4300	6503	SO:0001583	missense	165829			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.58G>A	3.37:g.119962888C>T	ENSP00000417261:p.Asp20Asn	Somatic	1500	WXS	Illumina HiSeq	Phase_IV	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.D20N	ENST00000464295.1	37	c.58	CCDS2997.1	3	.	.	.	.	.	.	.	.	.	.	C	8.367	0.834443	0.16820	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.23552	1.9;1.9;1.9	4.96	1.95	0.26073	.	0.973347	0.08389	N	0.953203	T	0.12860	0.0312	N	0.14661	0.345	0.27603	N	0.948894	B;B	0.17465	0.022;0.022	B;B	0.12837	0.008;0.008	T	0.34700	-0.9818	9	.	.	.	-0.3338	3.3744	0.07232	0.2043:0.5779:0.0:0.2179	.	20;20	E9PFZ4;Q8NFN8	.;GP156_HUMAN	N	20	ENSP00000417261:D20N;ENSP00000324553:D20N;ENSP00000418758:D20N	.	D	-	1	0	GPR156	121445578	0.110000	0.22057	0.978000	0.43139	0.656000	0.38851	0.038000	0.13862	0.667000	0.31107	0.555000	0.69702	GAT	GPR156	-	NULL		0.512	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	HGNC	protein_coding	OTTHUMT00000355139.1	C	NM_153002		119962888	-1	no_errors	ENST00000315843	ensembl	human	known	70_37	missense	SNP	0.910	T
GPR149	344758	genome.wustl.edu	37	3	154147176	154147176	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:154147176C>T	ENST00000389740.2	-	1	328	c.229G>A	c.(229-231)Gat>Aat	p.D77N		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	77					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATGAGATCATCCACAGACCAG	0.493																																																	0													89.0	93.0	92.0					3																	154147176		2045	4204	6249	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.229G>A	3.37:g.154147176C>T	ENSP00000374390:p.Asp77Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.D77N	ENST00000389740.2	37	c.229	CCDS43162.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.202959	0.94997	.	.	ENSG00000174948	ENST00000389740	T	0.71698	-0.59	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83220	0.5207	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83273	-0.0042	10	0.72032	D	0.01	-20.7721	20.2985	0.98592	0.0:1.0:0.0:0.0	.	77	Q86SP6	GP149_HUMAN	N	77	ENSP00000374390:D77N	ENSP00000374390:D77N	D	-	1	0	GPR149	155629870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.141000	0.77330	2.793000	0.96121	0.655000	0.94253	GAT	GPR149	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.493	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR149	HGNC	protein_coding	OTTHUMT00000353430.1	C	XM_293580		154147176	-1	no_errors	ENST00000389740	ensembl	human	known	70_37	missense	SNP	1.000	T
GPR63	81491	genome.wustl.edu	37	6	97246873	97246873	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:97246873C>G	ENST00000229955.3	-	2	1080	c.735G>C	c.(733-735)ttG>ttC	p.L245F	GPR63_ENST00000417980.1_Missense_Mutation_p.L245F	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.L245F(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TGAGAGAAATCAAAATCACAT	0.473																																																	1	Substitution - Missense(1)	stomach(1)											81.0	87.0	85.0					6																	97246873		2203	4300	6503	SO:0001583	missense	81491			AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.735G>C	6.37:g.97246873C>G	ENSP00000229955:p.Leu245Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UJH3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L245F	ENST00000229955.3	37	c.735	CCDS5036.1	6	.	.	.	.	.	.	.	.	.	.	C	9.076	0.998055	0.19043	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.37411	1.2;1.2;1.2	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.275256	0.28809	N	0.014071	T	0.15565	0.0375	L	0.33137	0.985	0.46774	D	0.999193	B	0.29136	0.234	B	0.30105	0.111	T	0.04078	-1.0979	10	0.24483	T	0.36	-0.3861	13.2223	0.59894	0.2652:0.7348:0.0:0.0	.	245	Q9BZJ6	GPR63_HUMAN	F	269;245;245;245	ENSP00000393170:L245F;ENSP00000229955:L245F;ENSP00000358273:L245F	ENSP00000229955:L245F	L	-	3	2	GPR63	97353594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.367000	0.34204	2.595000	0.87683	0.650000	0.86243	TTG	GPR63	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.473	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR63	HGNC	protein_coding	OTTHUMT00000041566.2	C			97246873	-1	no_errors	ENST00000229955	ensembl	human	known	70_37	missense	SNP	1.000	G
GPR65	8477	genome.wustl.edu	37	14	88477740	88477740	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:88477740C>G	ENST00000267549.3	+	2	1107	c.549C>G	c.(547-549)ctC>ctG	p.L183L	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	183					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						AAATCAACCTCAACTTGTTCA	0.428																																																	0													90.0	88.0	89.0					14																	88477740		2203	4299	6502	SO:0001819	synonymous_variant	8477			U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.549C>G	14.37:g.88477740C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O75819	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Psych_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.L183	ENST00000267549.3	37	c.549	CCDS9879.1	14																																																																																			GPR65	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Psych_rcpt		0.428	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR65	HGNC	protein_coding	OTTHUMT00000071564.4	C			88477740	+1	no_errors	ENST00000267549	ensembl	human	known	70_37	silent	SNP	0.034	G
GPR98	84059	genome.wustl.edu	37	5	90008191	90008191	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:90008191C>G	ENST00000405460.2	+	42	9226	c.9130C>G	c.(9130-9132)Cag>Gag	p.Q3044E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3044	Calx-beta 21. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGAAAAATTTCAGCTGATTTT	0.343																																																	0													43.0	39.0	40.0					5																	90008191		1808	4062	5870	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.9130C>G	5.37:g.90008191C>G	ENSP00000384582:p.Gln3044Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.Q3044E	ENST00000405460.2	37	c.9130	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.18|17.18	3.322696|3.322696	0.60634|0.60634	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	T|T	0.55413|0.28666	0.52|1.6	6.01|6.01	6.01|6.01	0.97437|0.97437	.|Na-Ca exchanger/integrin-beta4 (2);	.|0.161561	.|0.56097	.|D	.|0.000028	T|T	0.33030|0.33030	0.0849|0.0849	N|N	0.25789|0.25789	0.76|0.76	0.80722|0.80722	D|D	1|1	.|B;D	.|0.53619	.|0.197;0.961	.|B;P	.|0.48304	.|0.111;0.573	T|T	0.00986|0.00986	-1.1490|-1.1490	7|10	0.39692|0.34782	T|T	0.17|0.22	.|.	20.5141|20.5141	0.99211|0.99211	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3044;3044	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	L|E	609|3044	ENSP00000422153:F609L|ENSP00000384582:Q3044E	ENSP00000422153:F609L|ENSP00000296619:Q3044E	F|Q	+|+	3|1	2|0	GPR98|GPR98	90043947|90043947	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.906000|5.906000	0.69900|0.69900	2.850000|2.850000	0.98022|0.98022	0.655000|0.655000	0.94253|0.94253	TTC|CAG	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.343	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	C	NM_032119		90008191	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	G
GPS2	2874	genome.wustl.edu	37	17	7216714	7216714	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:7216714G>C	ENST00000380728.2	-	8	1009	c.709C>G	c.(709-711)Cag>Gag	p.Q237E	RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.Q237E|GPS2_ENST00000389167.5_Missense_Mutation_p.Q237E			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	237					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				TGAGTGGGCTGAAAGTGGCCA	0.547											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													93.0	96.0	95.0					17																	7216714		2203	4300	6503	SO:0001583	missense	2874			U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.709C>G	17.37:g.7216714G>C	ENSP00000370104:p.Gln237Glu	Somatic	640	WXS	Illumina HiSeq	Phase_IV	B4DXA1|Q6FHM8	Missense_Mutation	SNP	NULL	p.Q237E	ENST00000380728.2	37	c.709	CCDS11100.1	17	.	.	.	.	.	.	.	.	.	.	G	14.46	2.543075	0.45280	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.43294	0.95;0.95	4.74	3.77	0.43336	.	0.178818	0.38492	U	0.001674	T	0.24812	0.0602	N	0.14661	0.345	0.30835	N	0.736249	B	0.23058	0.079	B	0.16289	0.015	T	0.17258	-1.0375	10	0.49607	T	0.09	-0.5471	10.1262	0.42652	0.0944:0.0:0.9056:0.0	.	237	Q13227	GPS2_HUMAN	E	237	ENSP00000370104:Q237E;ENSP00000379841:Q237E	ENSP00000319371:Q237E	Q	-	1	0	GPS2	7157438	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.455000	0.44988	1.212000	0.43366	0.655000	0.94253	CAG	GPS2	-	NULL		0.547	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPS2	HGNC	protein_coding	OTTHUMT00000220048.4	G	NM_004489		7216714	-1	no_errors	ENST00000380728	ensembl	human	known	70_37	missense	SNP	1.000	C
GPX7	2882	genome.wustl.edu	37	1	53072635	53072635	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:53072635C>T	ENST00000361314.4	+	2	438				GPX7_ENST00000459779.1_3'UTR	NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7						response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	CTGGTCTCTTCATCCCCTCAC	0.592																																																	0													136.0	125.0	129.0					1																	53072635		2203	4300	6503	SO:0001627	intron_variant	2882			AF091092	CCDS569.1	1p32	2008-02-05			ENSG00000116157	ENSG00000116157			4559	protein-coding gene	gene with protein product		615784				15294905	Standard	NM_015696		Approved	FLJ14777, GPX6, NPGPx	uc001cue.3	Q96SL4	OTTHUMG00000008322	ENST00000361314.4:c.400+18C>T	1.37:g.53072635C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O95337|Q5T501	RNA	SNP	-	NULL	ENST00000361314.4	37	NULL	CCDS569.1	1																																																																																			GPX7	-	-		0.592	GPX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX7	HGNC	protein_coding	OTTHUMT00000022913.1	C	NM_015696		53072635	+1	no_errors	ENST00000459779	ensembl	human	known	70_37	rna	SNP	0.002	T
GREB1L	80000	genome.wustl.edu	37	18	19021373	19021373	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:19021373C>G	ENST00000580732.2	+	10	1463	c.1082C>G	c.(1081-1083)tCt>tGt	p.S361C	GREB1L_ENST00000400483.4_Missense_Mutation_p.S361C|GREB1L_ENST00000431264.1_Missense_Mutation_p.S361C|GREB1L_ENST00000424526.1_Missense_Mutation_p.S361C|GREB1L_ENST00000269218.6_Missense_Mutation_p.S361C|RP11-296E23.1_ENST00000584611.1_RNA|GREB1L_ENST00000578368.1_3'UTR			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	361						integral component of membrane (GO:0016021)				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						CCCCTTTTATCTGCCCCAGTT	0.398																																																	0													56.0	47.0	50.0					18																	19021373		692	1591	2283	SO:0001583	missense	80000			AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.1082C>G	18.37:g.19021373C>G	ENSP00000464162:p.Ser361Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4QN17|Q9H8F1	Missense_Mutation	SNP	NULL	p.S361C	ENST00000580732.2	37	c.1082	CCDS45836.1	18	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724150	0.68959	.	.	ENSG00000141449	ENST00000424526;ENST00000269218;ENST00000400483;ENST00000431264	T;T;T;T	0.15718	3.14;3.13;2.4;2.4	5.93	5.93	0.95920	.	.	.	.	.	T	0.16938	0.0407	N	0.10874	0.06	0.33413	D	0.578913	D;P	0.63880	0.993;0.8	P;B	0.53360	0.724;0.421	T	0.10753	-1.0616	9	0.45353	T	0.12	.	13.5326	0.61631	0.0:0.929:0.0:0.071	.	361;361	Q9C091;Q9C091-2	GRB1L_HUMAN;.	C	361	ENSP00000412060:S361C;ENSP00000269218:S361C;ENSP00000383331:S361C;ENSP00000393125:S361C	ENSP00000269218:S361C	S	+	2	0	GREB1L	17275371	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	3.005000	0.49521	2.810000	0.96702	0.655000	0.94253	TCT	GREB1L	-	NULL		0.398	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	GREB1L	HGNC	protein_coding	OTTHUMT00000443782.2	C	NM_024935		19021373	+1	no_errors	ENST00000424526	ensembl	human	known	70_37	missense	SNP	1.000	G
GRIP1	23426	genome.wustl.edu	37	12	66839208	66839208	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:66839208G>A	ENST00000398016.3	-	11	1347	c.1279C>T	c.(1279-1281)Cct>Tct	p.P427S	GRIP1_ENST00000286445.7_Missense_Mutation_p.P479S|GRIP1_ENST00000359742.4_Missense_Mutation_p.P479S	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CCTGTGACAGGATCTGCCGTC	0.507																																																	0													90.0	92.0	91.0					12																	66839208		1965	4163	6128	SO:0001583	missense	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1279C>T	12.37:g.66839208G>A	ENSP00000381098:p.Pro427Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P479S	ENST00000398016.3	37	c.1435	CCDS41807.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.64|14.64	2.596473|2.596473	0.46318|0.46318	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000543172	T;T;T;T;T;T|.	0.71817|.	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6|.	4.93|4.93	4.93|4.93	0.64822|0.64822	PDZ/DHR/GLGF (3);|.	0.165341|.	0.53938|.	D|.	0.000049|.	T|T	0.51432|0.51432	0.1674|0.1674	N|N	0.16743|0.16743	0.435|0.435	0.45777|0.45777	D|D	0.998666|0.998666	B;B;B;B|.	0.27380|.	0.177;0.03;0.054;0.048|.	B;B;B;B|.	0.35607|.	0.206;0.044;0.091;0.096|.	T|T	0.48175|0.48175	-0.9058|-0.9058	9|5	.|.	.|.	.|.	-10.5494|-10.5494	18.1423|18.1423	0.89643|0.89643	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	427;479;427;479|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	S|F	427;479;479;427;371;319|246	ENSP00000381098:P427S;ENSP00000352780:P479S;ENSP00000286445:P479S;ENSP00000446047:P427S;ENSP00000446024:P371S;ENSP00000446011:P319S|.	.|.	P|S	-|-	1|2	0|0	GRIP1|GRIP1	65125475|65125475	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.978000|0.978000	0.69477|0.69477	3.934000|3.934000	0.56553|0.56553	2.275000|2.275000	0.75901|0.75901	0.442000|0.442000	0.29010|0.29010	CCT|TCC	GRIP1	-	pfam_PDZ,superfamily_PDZ,pfscan_PDZ		0.507	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	G			66839208	-1	no_errors	ENST00000359742	ensembl	human	known	70_37	missense	SNP	1.000	A
GRIPAP1	56850	genome.wustl.edu	37	X	48844596	48844596	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:48844596C>T	ENST00000376441.1	-	12	919	c.885G>A	c.(883-885)ctG>ctA	p.L295L	GRIPAP1_ENST00000376425.3_Silent_p.L295L|GRIPAP1_ENST00000376444.3_Silent_p.L250L|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376423.4_Silent_p.L242L	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	295						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GCTGATCTCTCAGCTCTGCCA	0.582																																																	0													52.0	36.0	41.0					X																	48844596		2203	4298	6501	SO:0001819	synonymous_variant	56850			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.885G>A	X.37:g.48844596C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Silent	SNP	superfamily_Prefoldin	p.L295	ENST00000376441.1	37	c.885	CCDS35248.1	X																																																																																			GRIPAP1	-	NULL		0.582	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	C	NM_207672		48844596	-1	no_errors	ENST00000376441	ensembl	human	known	70_37	silent	SNP	0.887	T
GRK4	2868	genome.wustl.edu	37	4	2965765	2965765	+	5'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:2965765C>G	ENST00000398052.4	+	0	311				GRK4_ENST00000345167.6_5'UTR|NOP14_ENST00000502735.1_5'Flank|GRK4_ENST00000398051.4_5'UTR|NOP14_ENST00000398071.4_5'Flank|NOP14_ENST00000314262.6_5'Flank|NOP14-AS1_ENST00000503709.1_RNA|GRK4_ENST00000504933.1_5'UTR|GRK4_ENST00000442472.2_Missense_Mutation_p.S19W|GRK4_ENST00000503518.2_5'UTR|NOP14_ENST00000416614.2_5'Flank	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4						G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCTCGGTCTCGCAGAATCCG	0.697																																																	0													9.0	15.0	13.0					4																	2965765		2178	4268	6446	SO:0001623	5_prime_UTR_variant	2868				CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.-33C>G	4.37:g.2965765C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	NULL	p.S19W	ENST00000398052.4	37	c.56	CCDS33946.1	4	.	.	.	.	.	.	.	.	.	.	C	8.354	0.831618	0.16820	.	.	ENSG00000125388	ENST00000442472	.	.	.	2.85	-1.39	0.08997	.	.	.	.	.	T	0.49115	0.1538	.	.	.	0.09310	N	1	D	0.63880	0.993	P	0.62649	0.905	T	0.40421	-0.9564	7	0.87932	D	0	.	1.3315	0.02136	0.1704:0.4339:0.1676:0.2281	.	19	B4DEC9	.	W	19	.	ENSP00000392297:S19W	S	+	2	0	GRK4	2935563	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-1.471000	0.02344	-0.227000	0.09884	0.305000	0.20034	TCG	GRK4	-	NULL		0.697	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK4	HGNC	protein_coding	OTTHUMT00000358176.2	C	NM_005307		2965765	+1	no_errors	ENST00000442472	ensembl	human	known	70_37	missense	SNP	0.000	G
GRK7	131890	genome.wustl.edu	37	3	141535812	141535812	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:141535812G>A	ENST00000264952.2	+	4	1719	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	528					protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GGGACTGTTTGAGGAACTGAA	0.428																																																	0													154.0	149.0	150.0					3																	141535812		2203	4300	6503	SO:0001583	missense	131890				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1582G>A	3.37:g.141535812G>A	ENSP00000264952:p.Glu528Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.E528K	ENST00000264952.2	37	c.1582	CCDS3120.1	3	.	.	.	.	.	.	.	.	.	.	G	9.314	1.056384	0.19907	.	.	ENSG00000114124	ENST00000264952	T	0.60040	0.22	5.14	4.27	0.50696	AGC-kinase, C-terminal (1);	0.118100	0.56097	D	0.000022	T	0.39600	0.1084	N	0.26162	0.8	0.41471	D	0.988104	B	0.09022	0.002	B	0.04013	0.001	T	0.28459	-1.0043	10	0.02654	T	1	-11.3395	13.6065	0.62050	0.0751:0.0:0.9249:0.0	.	528	Q8WTQ7	GRK7_HUMAN	K	528	ENSP00000264952:E528K	ENSP00000264952:E528K	E	+	1	0	GRK7	143018502	1.000000	0.71417	0.573000	0.28510	0.973000	0.67179	7.889000	0.87307	1.171000	0.42768	0.591000	0.81541	GAG	GRK7	-	smart_AGC-kinase_C		0.428	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK7	HGNC	protein_coding	OTTHUMT00000353168.1	G	NM_139209		141535812	+1	no_errors	ENST00000264952	ensembl	human	known	70_37	missense	SNP	1.000	A
GRM5	2915	genome.wustl.edu	37	11	88300278	88300278	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:88300278C>G	ENST00000305447.4	-	7	2722	c.2573G>C	c.(2572-2574)aGa>aCa	p.R858T	GRM5_ENST00000305432.5_Missense_Mutation_p.R858T|GRM5_ENST00000455756.2_Missense_Mutation_p.R858T|GRM5_ENST00000393297.1_Missense_Mutation_p.R858T|GRM5_ENST00000418177.2_Missense_Mutation_p.R858T	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	858					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GCTGCTGGATCTGCTGGCTGC	0.562																																																	0													82.0	73.0	76.0					11																	88300278		2201	4299	6500	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2573G>C	11.37:g.88300278C>G	ENSP00000306138:p.Arg858Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.R858T	ENST00000305447.4	37	c.2573	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236333	0.58886	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88896	-2.36;-2.43;-2.43;-2.36;-2.44	5.71	5.71	0.89125	.	0.047569	0.85682	D	0.000000	D	0.90494	0.7022	M	0.62723	1.935	0.43203	D	0.995054	P;P	0.46142	0.873;0.483	P;B	0.47346	0.544;0.084	D	0.89287	0.3616	9	.	.	.	.	19.8631	0.96790	0.0:1.0:0.0:0.0	.	858;858	P41594-2;P41594	.;GRM5_HUMAN	T	858	ENSP00000402912:R858T;ENSP00000405690:R858T;ENSP00000305905:R858T;ENSP00000306138:R858T;ENSP00000376975:R858T	.	R	-	2	0	GRM5	87939926	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.934000	0.63491	2.709000	0.92574	0.655000	0.94253	AGA	GRM5	-	prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3_mtglu_rcpt_1		0.562	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	C	NM_000842		88300278	-1	no_errors	ENST00000305447	ensembl	human	known	70_37	missense	SNP	1.000	G
GRPR	2925	genome.wustl.edu	37	X	16168521	16168521	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:16168521G>C	ENST00000380289.2	+	2	905	c.507G>C	c.(505-507)atG>atC	p.M169I	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000422438.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	169					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TCATCTCCATGCTGCTGGCCA	0.527																																																	0													147.0	130.0	135.0					X																	16168521		2203	4300	6503	SO:0001583	missense	2925				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.507G>C	X.37:g.16168521G>C	ENSP00000369643:p.Met169Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R910	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.M169I	ENST00000380289.2	37	c.507	CCDS14174.1	X	.	.	.	.	.	.	.	.	.	.	G	11.82	1.754099	0.31046	.	.	ENSG00000126010	ENST00000380289	T	0.34275	1.37	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.139393	0.64402	D	0.000004	T	0.21145	0.0509	N	0.11341	0.13	0.58432	D	0.999999	B	0.20368	0.044	B	0.23716	0.048	T	0.08554	-1.0716	10	0.06099	T	0.92	-29.2505	17.4003	0.87458	0.0:0.0:1.0:0.0	.	169	P30550	GRPR_HUMAN	I	169	ENSP00000369643:M169I	ENSP00000369643:M169I	M	+	3	0	GRPR	16078442	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.568000	0.82369	2.322000	0.78497	0.600000	0.82982	ATG	GRPR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	HGNC	protein_coding	OTTHUMT00000055901.1	G	NM_005314		16168521	+1	no_errors	ENST00000380289	ensembl	human	known	70_37	missense	SNP	1.000	C
GSDMB	55876	genome.wustl.edu	37	17	38061111	38061111	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:38061111G>C	ENST00000394179.1	-	10	1320	c.1190C>G	c.(1189-1191)tCt>tGt	p.S397C	GSDMB_ENST00000520542.1_Missense_Mutation_p.S393C|GSDMB_ENST00000418519.1_Missense_Mutation_p.S402C|GSDMB_ENST00000309481.7_Missense_Mutation_p.S389C|GSDMB_ENST00000394175.2_Missense_Mutation_p.S380C|GSDMB_ENST00000360317.3_Missense_Mutation_p.S402C			Q8TAX9	GSDMB_HUMAN	gasdermin B	397						cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CAGCAGGATAGAGACAACAAC	0.532																																																	0													105.0	97.0	100.0					17																	38061111		2203	4300	6503	SO:0001583	missense	55876			AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.1190C>G	17.37:g.38061111G>C	ENSP00000377733:p.Ser397Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Missense_Mutation	SNP	pfam_Gasdermin	p.S402C	ENST00000394179.1	37	c.1205		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.94|12.94	2.087899|2.087899	0.36855|0.36855	.|.	.|.	ENSG00000073605|ENSG00000073605	ENST00000420491|ENST00000360317;ENST00000394175;ENST00000309481;ENST00000520542;ENST00000418519;ENST00000394179	.|T;T;T;T;T	.|0.10763	.|2.84;2.9;2.93;2.9;2.94	3.76|3.76	1.7|1.7	0.24286|0.24286	.|.	.|0.332601	.|0.21545	.|N	.|0.072822	T|T	0.15652|0.15652	0.0377|0.0377	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.87578	.|0.996;0.957;0.94;0.998;0.998	T|T	0.04796|0.04796	-1.0926|-1.0926	5|10	.|0.87932	.|D	.|0	.|.	6.2485|6.2485	0.20832|0.20832	0.0:0.2054:0.5826:0.212|0.0:0.2054:0.5826:0.212	.|.	.|393;402;397;389;380	.|B4DKK7;Q8TAX9-4;Q8TAX9;Q8TAX9-3;Q8TAX9-2	.|.;.;GSDMB_HUMAN;.;.	V|C	334|397;380;389;393;402;397	.|ENSP00000377729:S380C;ENSP00000312584:S389C;ENSP00000430157:S393C;ENSP00000415049:S402C;ENSP00000377733:S397C	.|ENSP00000312584:S389C	L|S	-|-	1|2	2|0	GSDMB|GSDMB	35314637|35314637	0.005000|0.005000	0.15991|0.15991	0.001000|0.001000	0.08648|0.08648	0.006000|0.006000	0.05464|0.05464	0.899000|0.899000	0.28417|0.28417	0.348000|0.348000	0.23949|0.23949	0.511000|0.511000	0.50034|0.50034	CTA|TCT	GSDMB	-	NULL		0.532	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	GSDMB	HGNC	protein_coding		G	NM_018530		38061111	-1	no_errors	ENST00000360317	ensembl	human	known	70_37	missense	SNP	0.001	C
GSDMB	55876	genome.wustl.edu	37	17	38061148	38061148	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:38061148C>T	ENST00000394179.1	-	10	1283	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	GSDMB_ENST00000520542.1_Missense_Mutation_p.E381K|GSDMB_ENST00000418519.1_Missense_Mutation_p.E390K|GSDMB_ENST00000309481.7_Missense_Mutation_p.E377K|GSDMB_ENST00000394175.2_Missense_Mutation_p.E368K|GSDMB_ENST00000360317.3_Missense_Mutation_p.E390K			Q8TAX9	GSDMB_HUMAN	gasdermin B	385						cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						ATTCGTGCCTCAGGGTCATAG	0.522																																																	0													124.0	110.0	115.0					17																	38061148		2203	4300	6503	SO:0001583	missense	55876			AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.1153G>A	17.37:g.38061148C>T	ENSP00000377733:p.Glu385Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Missense_Mutation	SNP	pfam_Gasdermin	p.E390K	ENST00000394179.1	37	c.1168		17	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131589	0.56828	.	.	ENSG00000073605	ENST00000360317;ENST00000394175;ENST00000309481;ENST00000520542;ENST00000418519;ENST00000394179	T;T;T;T;T	0.10477	2.87;2.94;2.97;2.94;2.99	3.65	1.6	0.23607	.	0.565418	0.14111	N	0.340719	T	0.11922	0.0290	N	0.24115	0.695	0.09310	N	1	P;D;D;P;P	0.61080	0.799;0.982;0.989;0.773;0.873	B;P;P;B;B	0.54965	0.103;0.765;0.696;0.208;0.328	T	0.15235	-1.0444	10	0.62326	D	0.03	.	5.696	0.17855	0.0:0.748:0.0:0.252	.	381;390;385;377;368	B4DKK7;Q8TAX9-4;Q8TAX9;Q8TAX9-3;Q8TAX9-2	.;.;GSDMB_HUMAN;.;.	K	385;368;377;381;390;385	ENSP00000377729:E368K;ENSP00000312584:E377K;ENSP00000430157:E381K;ENSP00000415049:E390K;ENSP00000377733:E385K	ENSP00000312584:E377K	E	-	1	0	GSDMB	35314674	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-0.045000	0.12003	0.320000	0.23234	0.511000	0.50034	GAG	GSDMB	-	NULL		0.522	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	GSDMB	HGNC	protein_coding		C	NM_018530		38061148	-1	no_errors	ENST00000360317	ensembl	human	known	70_37	missense	SNP	0.005	T
GSN	2934	genome.wustl.edu	37	9	124086857	124086857	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:124086857G>C	ENST00000373818.4	+	11	1573	c.1504G>C	c.(1504-1506)Gag>Cag	p.E502Q	GSN_ENST00000373823.3_Missense_Mutation_p.E451Q|GSN_ENST00000373806.1_5'Flank|GSN_ENST00000449733.1_Missense_Mutation_p.E451Q|GSN_ENST00000341272.2_Missense_Mutation_p.E451Q|GSN_ENST00000412819.1_Missense_Mutation_p.E451Q|GSN_ENST00000436847.1_Missense_Mutation_p.E462Q|GSN_ENST00000373807.1_Missense_Mutation_p.E233Q|GSN_ENST00000394353.2_Missense_Mutation_p.E462Q|GSN_ENST00000373808.2_Missense_Mutation_p.E451Q|GSN_ENST00000545652.1_Missense_Mutation_p.E459Q	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	502	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TACCCAGGATGAGGTCGCTGC	0.627																																																	0													64.0	41.0	49.0					9																	124086857		2169	4204	6373	SO:0001583	missense	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1504G>C	9.37:g.124086857G>C	ENSP00000362924:p.Glu502Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	p.E502Q	ENST00000373818.4	37	c.1504	CCDS6828.1	9	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171924	0.78452	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807	T;T;T;T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	4.63	3.73	0.42828	Gelsolin domain (1);	0.054601	0.64402	D	0.000001	T	0.63546	0.2520	H	0.97707	4.06	0.58432	D	0.999998	D;D;D;D;D	0.89917	0.999;0.97;0.999;1.0;0.998	D;P;D;D;D	0.80764	0.992;0.741;0.992;0.994;0.941	T	0.74940	-0.3493	10	0.66056	D	0.02	-24.2112	11.9368	0.52878	0.0865:0.0:0.9135:0.0	.	475;459;462;233;502	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	Q	451;462;462;451;451;451;451;435;425;459;502;233	ENSP00000362929:E451Q;ENSP00000411293:E462Q;ENSP00000377882:E462Q;ENSP00000409358:E451Q;ENSP00000416586:E451Q;ENSP00000340888:E451Q;ENSP00000362914:E451Q;ENSP00000445823:E459Q;ENSP00000362924:E502Q;ENSP00000362913:E233Q	ENSP00000340888:E451Q	E	+	1	0	GSN	123126678	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.385000	0.97223	1.075000	0.40932	0.650000	0.86243	GAG	GSN	-	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin		0.627	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	G	NM_000177		124086857	+1	no_errors	ENST00000373818	ensembl	human	known	70_37	missense	SNP	1.000	C
GSPT1	2935	genome.wustl.edu	37	16	11984953	11984953	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:11984953C>G	ENST00000563468.1	-	4	354	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q	GSPT1_ENST00000420576.2_Missense_Mutation_p.E110Q|GSPT1_ENST00000439887.2_Missense_Mutation_p.E247Q|GSPT1_ENST00000434724.2_Missense_Mutation_p.E248Q|RP11-166B2.8_ENST00000574364.1_RNA			P15170	ERF3A_HUMAN	G1 to S phase transition 1	110	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						GCTTCTCTTTCATACTTTTCA	0.313																																																	0													111.0	96.0	101.0					16																	11984953		1741	3946	5687	SO:0001583	missense	2935			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.328G>C	16.37:g.11984953C>G	ENSP00000454351:p.Glu110Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KQG6|Q96GF2	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom	p.E248Q	ENST00000563468.1	37	c.742	CCDS45414.1	16	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144090	0.77888	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.45276	0.9;0.9;0.9	5.44	4.49	0.54785	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	U	0.000000	T	0.55752	0.1940	M	0.70595	2.14	0.80722	D	1	D;D;B	0.53462	0.96;0.96;0.398	P;P;P	0.54924	0.764;0.764;0.571	T	0.61327	-0.7085	10	0.87932	D	0	-12.6486	12.7798	0.57471	0.0:0.9205:0.0:0.0795	.	247;244;110	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	Q	248;247;110	ENSP00000398131:E248Q;ENSP00000408399:E247Q;ENSP00000399539:E110Q	ENSP00000399539:E110Q	E	-	1	0	GSPT1	11892454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	1.304000	0.44892	0.650000	0.86243	GAA	GSPT1	-	pfam_EF_GTP-bd_dom		0.313	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	GSPT1	HGNC	protein_coding	OTTHUMT00000421513.1	C	NM_002094		11984953	-1	no_errors	ENST00000434724	ensembl	human	known	70_37	missense	SNP	1.000	G
GSPT2	23708	genome.wustl.edu	37	X	51488154	51488154	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:51488154G>A	ENST00000340438.4	+	1	1674	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	478					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AATACTTTCTGATGATACTGA	0.423																																																	0													63.0	55.0	58.0					X																	51488154		2203	4300	6503	SO:0001583	missense	23708			AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1432G>A	X.37:g.51488154G>A	ENSP00000341247:p.Asp478Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom	p.D478N	ENST00000340438.4	37	c.1432	CCDS14336.1	X	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538504	0.65085	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.63096	-0.02	4.54	4.54	0.55810	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.66218	0.2767	L	0.34521	1.04	0.80722	D	1	P	0.48694	0.914	P	0.58454	0.839	T	0.68066	-0.5507	10	0.56958	D	0.05	-27.0569	14.1724	0.65517	0.0:0.0:1.0:0.0	.	478	Q8IYD1	ERF3B_HUMAN	N	478;395	ENSP00000341247:D478N	ENSP00000341247:D478N	D	+	1	0	GSPT2	51504894	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.141000	0.77330	2.520000	0.84964	0.590000	0.80494	GAT	GSPT2	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel		0.423	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSPT2	HGNC	protein_coding	OTTHUMT00000056587.1	G			51488154	+1	no_errors	ENST00000340438	ensembl	human	known	70_37	missense	SNP	1.000	A
GSTA3	2940	genome.wustl.edu	37	6	52764836	52764836	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:52764836C>G	ENST00000211122.3	-	5	375	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	GSTA3_ENST00000370968.1_Missense_Mutation_p.E54Q	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	104	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	AGGATCATTTCATTCAAATCT	0.378																																																	0													138.0	126.0	130.0					6																	52764836		2203	4300	6503	SO:0001583	missense	2940			AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4628	protein-coding gene	gene with protein product		605449	"""glutathione S-transferase A3"""			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.310G>C	6.37:g.52764836C>G	ENSP00000211122:p.Glu104Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.E104Q	ENST00000211122.3	37	c.310	CCDS4947.1	6	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855383	0.32791	.	.	ENSG00000174156	ENST00000370968;ENST00000211122;ENST00000431899	T;T;T	0.06687	4.48;4.48;3.27	3.91	3.91	0.45181	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.126216	0.51477	D	0.000100	T	0.12944	0.0314	M	0.69463	2.115	0.28155	N	0.929245	D	0.62365	0.991	P	0.62298	0.9	T	0.00945	-1.1505	10	0.49607	T	0.09	.	12.7996	0.57578	0.0:0.8339:0.1661:0.0	.	104	Q16772	GSTA3_HUMAN	Q	54;104;54	ENSP00000360007:E54Q;ENSP00000211122:E104Q;ENSP00000399142:E54Q	ENSP00000211122:E104Q	E	-	1	0	GSTA3	52872795	0.003000	0.15002	0.059000	0.19551	0.057000	0.15508	1.569000	0.36428	2.168000	0.68352	0.591000	0.81541	GAA	GSTA3	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like		0.378	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA3	HGNC	protein_coding	OTTHUMT00000040933.1	C			52764836	-1	no_errors	ENST00000211122	ensembl	human	known	70_37	missense	SNP	0.974	G
GTDC1	79712	genome.wustl.edu	37	2	144966248	144966248	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:144966248G>A	ENST00000392869.2	-	3	253	c.101C>T	c.(100-102)cCt>cTt	p.P34L	GTDC1_ENST00000542155.1_Missense_Mutation_p.P34L|GTDC1_ENST00000344850.4_Missense_Mutation_p.P34L|GTDC1_ENST00000241391.5_Missense_Mutation_p.P34L|GTDC1_ENST00000409214.1_Missense_Mutation_p.P34L|GTDC1_ENST00000463875.2_Intron|GTDC1_ENST00000392867.3_Missense_Mutation_p.P34L|GTDC1_ENST00000409298.1_Missense_Mutation_p.P34L|GTDC1_ENST00000467352.1_5'Flank	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	34					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TTTCTTTGCAGGAAGGGTATA	0.438																																																	0													90.0	89.0	89.0					2																	144966248		2203	4300	6503	SO:0001583	missense	79712			AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.101C>T	2.37:g.144966248G>A	ENSP00000376608:p.Pro34Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1	p.P34L	ENST00000392869.2	37	c.101	CCDS33300.1	2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442720	0.83993	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000437114;ENST00000417450	T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	6.08	5.19	0.71726	Glycosyltransferase family 1, N-terminal (1);	0.054232	0.85682	D	0.000000	T	0.77658	0.4163	M	0.89478	3.035	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.898;1.0	D;D;P;D	0.81914	0.993;0.995;0.566;0.991	T	0.83194	-0.0082	10	0.87932	D	0	-0.66	17.423	0.87519	0.0:0.1246:0.8754:0.0	.	34;34;34;34	Q4AE62-2;B8ZZ45;Q4AE62;Q4AE62-3	.;.;GTDC1_HUMAN;.	L	34	ENSP00000376608:P34L;ENSP00000386581:P34L;ENSP00000376606:P34L;ENSP00000386691:P34L;ENSP00000438323:P34L;ENSP00000241391:P34L;ENSP00000339750:P34L;ENSP00000403869:P34L;ENSP00000400661:P34L	ENSP00000241391:P34L	P	-	2	0	GTDC1	144682718	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.320000	0.96346	1.569000	0.49696	-0.175000	0.13238	CCT	GTDC1	-	pfam_GlycosylTrfase_1_N		0.438	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTDC1	HGNC	protein_coding	OTTHUMT00000254779.2	G	NM_024659		144966248	-1	no_errors	ENST00000344850	ensembl	human	known	70_37	missense	SNP	1.000	A
GTF2H1	2965	genome.wustl.edu	37	11	18359719	18359719	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:18359719C>T	ENST00000265963.4	+	4	571	c.411C>T	c.(409-411)atC>atT	p.I137I	GTF2H1_ENST00000534641.1_Silent_p.I21I|GTF2H1_ENST00000453096.2_Silent_p.I137I|GTF2H1_ENST00000524753.4_5'Flank	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	137	BSD 1. {ECO:0000255|PROSITE- ProRule:PRU00036}.				7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GTCAAGTGATCAGTGCTGAGG	0.383								Nucleotide excision repair (NER)																																									0													216.0	193.0	201.0					11																	18359719		2199	4293	6492	SO:0001819	synonymous_variant	2965				CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.411C>T	11.37:g.18359719C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Silent	SNP	pfam_BSD,pfam_TFIIH_BTF_p62_N,smart_BSD,pfscan_BSD	p.I137	ENST00000265963.4	37	c.411	CCDS7838.1	11																																																																																			GTF2H1	-	pfam_BSD,smart_BSD,pfscan_BSD		0.383	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H1	HGNC	protein_coding	OTTHUMT00000395627.2	C	NM_005316		18359719	+1	no_errors	ENST00000265963	ensembl	human	known	70_37	silent	SNP	1.000	T
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72683349	72683349	+	RNA	SNP	C	C	T	rs546677553		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:72683349C>T	ENST00000425256.1	-	0	174									GTF2I repeat domain containing 2 pseudogene 1																		CGACTGGTCTCGCAGCATCTT	0.498													.|||	1	0.000199681	0.0	0.0014	5008	,	,		17878	0.0		0.0	False		,,,				2504	0.0																0																																												401375			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72683349C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000425256.1	37	NULL		7																																																																																			GTF2IRD2P1	-	-		0.498	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	HGNC	pseudogene	OTTHUMT00000345921.1	C	NR_002164		72683349	-1	no_errors	ENST00000425256	ensembl	human	known	70_37	rna	SNP	0.323	T
GTF2I	2969	genome.wustl.edu	37	7	74169840	74169840	+	Splice_Site	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:74169840G>C	ENST00000324896.4	+	31	3214		c.e31-1		GTF2I_ENST00000346152.4_Splice_Site|GTF2I_ENST00000416070.1_Splice_Site|GTF2I_ENST00000353920.4_Splice_Site	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi						negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TCTCTCTTTAGACCATTTCCA	0.343																																																	0													1.0	1.0	1.0					7																	74169840		104	199	303	SO:0001630	splice_region_variant	2969			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.2826-1G>C	7.37:g.74169840G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Splice_Site	SNP	-	e30-1	ENST00000324896.4	37	c.2826-1	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681408	0.47991	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	.	.	.	3.63	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5532	0.68081	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GTF2I	73807776	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.159000	0.71856	1.894000	0.54839	0.449000	0.29647	.	GTF2I	-	-		0.343	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	HGNC	protein_coding	OTTHUMT00000252708.1	G	NM_032999	Intron	74169840	+1	no_errors	ENST00000324896	ensembl	human	known	70_37	splice_site	SNP	1.000	C
GUCY1A2	2977	genome.wustl.edu	37	11	106681104	106681104	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:106681104C>T	ENST00000526355.2	-	5	1775	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R457Q|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R436Q	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	436					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	ATGTAGCCCTCGGCCCATGAG	0.463																																																	0													95.0	94.0	94.0					11																	106681104		2201	4298	6499	SO:0001583	missense	2977			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1307G>A	11.37:g.106681104C>T	ENSP00000431245:p.Arg436Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4C4|B7ZLT5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R436Q	ENST00000526355.2	37	c.1307	CCDS8335.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.139307	0.94560	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.88586	-2.4;-2.4;-2.4	5.64	5.64	0.86602	Haem NO binding associated (1);	0.000000	0.38959	U	0.001502	D	0.93255	0.7851	L	0.58302	1.8	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.75020	0.985;0.843;0.928	D	0.92462	0.5978	10	0.44086	T	0.13	.	18.6821	0.91549	0.0:1.0:0.0:0.0	.	457;436;436	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	Q	436;436;457	ENSP00000431245:R436Q;ENSP00000282249:R436Q;ENSP00000344874:R457Q	ENSP00000282249:R436Q	R	-	2	0	GUCY1A2	106186314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.644000	0.89710	0.650000	0.86243	CGA	GUCY1A2	-	pfam_Haem_no_assoc-bd		0.463	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2	C			106681104	-1	no_errors	ENST00000282249	ensembl	human	known	70_37	missense	SNP	1.000	T
GUCY1A3	2982	genome.wustl.edu	37	4	156632252	156632252	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:156632252G>A	ENST00000296518.7	+	6	1144	c.935G>A	c.(934-936)aGa>aAa	p.R312K	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R312K|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R312K|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R312K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R312K|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R54K|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R312K			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	312					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATGAACAGGAGAGACTTTCAA	0.378																																																	0													69.0	69.0	69.0					4																	156632252		2203	4300	6503	SO:0001583	missense	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.935G>A	4.37:g.156632252G>A	ENSP00000296518:p.Arg312Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R312K	ENST00000296518.7	37	c.935	CCDS34085.1	4	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449859	0.43531	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.76	5.76	0.90799	Haem NO binding associated (1);	0.000000	0.64402	D	0.000001	D	0.82921	0.5142	L	0.27053	0.805	0.43471	D	0.995686	B;B	0.26318	0.146;0.024	B;B	0.33254	0.16;0.058	T	0.76495	-0.2938	10	0.20046	T	0.44	.	20.3219	0.98684	0.0:0.0:1.0:0.0	.	312;312	Q02108;D6RDW3	GCYA3_HUMAN;.	K	312;312;312;312;54;312;312	ENSP00000424361:R312K;ENSP00000421493:R312K;ENSP00000426968:R312K;ENSP00000412201:R312K;ENSP00000377418:R54K;ENSP00000296518:R312K;ENSP00000426040:R312K	ENSP00000296518:R312K	R	+	2	0	GUCY1A3	156851702	1.000000	0.71417	0.954000	0.39281	0.992000	0.81027	4.995000	0.63908	2.876000	0.98609	0.643000	0.83706	AGA	GUCY1A3	-	pfam_Haem_no_assoc-bd		0.378	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	HGNC	protein_coding	OTTHUMT00000365786.2	G			156632252	+1	no_errors	ENST00000296518	ensembl	human	known	70_37	missense	SNP	1.000	A
GUSB	2990	genome.wustl.edu	37	7	65439917	65439917	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:65439917C>T	ENST00000304895.4	-	6	1184	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	GUSB_ENST00000476486.1_5'Flank|GUSB_ENST00000421103.1_Missense_Mutation_p.E206K|GUSB_ENST00000345660.6_Intron	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	352					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TCCGCATCCTCATGCTTGTTG	0.572																																																	0													117.0	112.0	114.0					7																	65439917		2203	4300	6503	SO:0001583	missense	2990			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1054G>A	7.37:g.65439917C>T	ENSP00000302728:p.Glu352Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.E352K	ENST00000304895.4	37	c.1054	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.248825	0.95305	.	.	ENSG00000169919	ENST00000304895;ENST00000421103	D;D	0.96774	-4.12;-4.12	5.06	5.06	0.68205	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.151699	0.64402	N	0.000014	D	0.98883	0.9622	H	0.97682	4.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99453	1.0941	10	0.87932	D	0	.	17.6083	0.88045	0.0:1.0:0.0:0.0	.	206;352	E9PCV0;P08236	.;BGLR_HUMAN	K	352;206	ENSP00000302728:E352K;ENSP00000391390:E206K	ENSP00000302728:E352K	E	-	1	0	GUSB	65077352	1.000000	0.71417	0.984000	0.44739	0.763000	0.43281	7.455000	0.80726	2.622000	0.88805	0.561000	0.74099	GAG	GUSB	-	pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_2		0.572	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	C	NM_000181		65439917	-1	no_errors	ENST00000304895	ensembl	human	known	70_37	missense	SNP	1.000	T
GVINP1	387751	genome.wustl.edu	37	11	6740012	6740012	+	RNA	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:6740012C>T	ENST00000526769.3	-	0	3192					NR_003945.1		Q7Z2Y8	GVIN1_HUMAN	GTPase, very large interferon inducible pseudogene 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										AATAGTTCTTCCCTTTTGGTG	0.413																																																	0																																												387751			BX538318		11p15.4	2014-03-18	2010-09-28	2010-09-28	ENSG00000254838	ENSG00000254838			25813	pseudogene	pseudogene	"""very large inducible GTPase 1"""		"""GTPase, very large interferon inducible 1"", ""GTPase, very large interferon inducible 1, pseudogene"""	GVIN1, GVIN1P		12874213, 19369598	Standard	NR_003945		Approved	VLIG-1, FLJ13373, VLIG1	uc001meo.4	Q7Z2Y8	OTTHUMG00000165506		11.37:g.6740012C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFL2|Q9H8N5	RNA	SNP	-	NULL	ENST00000526769.3	37	NULL		11																																																																																			GVINP1	-	-		0.413	GVINP1-002	KNOWN	basic|exp_conf	processed_transcript	GVINP1	HGNC	pseudogene	OTTHUMT00000386960.3	C	NR_003945		6740012	-1	no_errors	ENST00000526769	ensembl	human	known	70_37	rna	SNP	0.000	T
GYG2	8908	genome.wustl.edu	37	X	2748123	2748123	+	5'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:2748123C>T	ENST00000381163.3	+	0	176				GYG2_ENST00000542787.1_5'UTR|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_5'UTR|GYG2_ENST00000338623.5_5'UTR	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACGCGGATTCCCGGAGACGG	0.726																																																	0																																										SO:0001623	5_prime_UTR_variant	8908			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.-107C>T	X.37:g.2748123C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7WNN6|O15485|O15486|O15487|O15489|O15490	RNA	SNP	-	NULL	ENST00000381163.3	37	NULL	CCDS14121.1	X																																																																																			GYG2	-	-		0.726	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GYG2	HGNC	protein_coding	OTTHUMT00000055645.1	C	NM_003918		2748123	+1	no_errors	ENST00000381161	ensembl	human	known	70_37	rna	SNP	0.005	T
GYPB	2994	genome.wustl.edu	37	4	144940464	144940464	+	5'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:144940464G>C	ENST00000502664.1	-	0	28				RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000513128.1_5'UTR|GYPB_ENST00000429670.2_5'UTR|GYPB_ENST00000283126.7_Intron	NM_002100.4	NP_002091	P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					GCTGGTTCCTGAAGTTAGTGC	0.408																																																	0													30.0	36.0	34.0					4																	144940464		2184	4292	6476	SO:0001623	5_prime_UTR_variant	2994				CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000502664.1:c.-24C>G	4.37:g.144940464G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	RNA	SNP	-	NULL	ENST00000502664.1	37	NULL	CCDS54809.1	4																																																																																			GYPB	-	-		0.408	GYPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYPB	HGNC	protein_coding	OTTHUMT00000364791.1	G	NM_002100		144940464	-1	no_errors	ENST00000507009	ensembl	human	known	70_37	rna	SNP	0.000	C
HABP2	3026	genome.wustl.edu	37	10	115341870	115341870	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:115341870C>T	ENST00000351270.3	+	9	1170	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	HABP2_ENST00000542051.1_Silent_p.L332L|HABP2_ENST00000541666.1_Intron	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	358	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	GCTGGGTGCTCACTGCTGCCC	0.662																																																	0													19.0	21.0	21.0					10																	115341870		2202	4300	6502	SO:0001819	synonymous_variant	3026				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.1074C>T	10.37:g.115341870C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K467|B7Z8U5|F5H5M6|O00663	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L358	ENST00000351270.3	37	c.1074	CCDS7577.1	10																																																																																			HABP2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.662	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HABP2	HGNC	protein_coding	OTTHUMT00000050428.1	C	NM_004132		115341870	+1	no_errors	ENST00000351270	ensembl	human	known	70_37	silent	SNP	1.000	T
HAND1	9421	genome.wustl.edu	37	5	153857266	153857266	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:153857266C>T	ENST00000231121.2	-	1	558	c.303G>A	c.(301-303)aaG>aaA	p.K101K		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	101	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|blastocyst development (GO:0001824)|cardiac left ventricle formation (GO:0003218)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cartilage morphogenesis (GO:0060536)|embryonic heart tube development (GO:0035050)|embryonic heart tube formation (GO:0003144)|heart development (GO:0007507)|heart looping (GO:0001947)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)|trophoblast giant cell differentiation (GO:0060707)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCCGCTCCTTCTTGGGTCCTG	0.667																																																	0													61.0	55.0	57.0					5																	153857266		2203	4300	6503	SO:0001819	synonymous_variant	9421			AF061756	CCDS4327.1	5q33	2013-05-21			ENSG00000113196	ENSG00000113196		"""Basic helix-loop-helix proteins"""	4807	protein-coding gene	gene with protein product		602406				9337404, 9931445	Standard	NM_004821		Approved	eHand, Thing1, Hxt, bHLHa27	uc003lvn.3	O96004	OTTHUMG00000130193	ENST00000231121.2:c.303G>A	5.37:g.153857266C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.K101	ENST00000231121.2	37	c.303	CCDS4327.1	5																																																																																			HAND1	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.667	HAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAND1	HGNC	protein_coding	OTTHUMT00000252511.1	C	NM_004821		153857266	-1	no_errors	ENST00000231121	ensembl	human	known	70_37	silent	SNP	1.000	T
HAP1	9001	genome.wustl.edu	37	17	39888584	39888584	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:39888584C>T	ENST00000310778.5	-	3	621	c.612G>A	c.(610-612)ctG>ctA	p.L204L	JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Silent_p.L212L|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000347901.4_Silent_p.L204L|HAP1_ENST00000393939.2_Silent_p.L204L			P54257	HAP1_HUMAN	huntingtin-associated protein 1	204	HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTGCAGTGTTCAGGTCCCTCT	0.602																																																	0													66.0	59.0	62.0					17																	39888584		2203	4300	6503	SO:0001819	synonymous_variant	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.612G>A	17.37:g.39888584C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Silent	SNP	pfam_HAP1_N	p.L204	ENST00000310778.5	37	c.612		17																																																																																			HAP1	-	pfam_HAP1_N		0.602	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	HGNC	protein_coding	OTTHUMT00000389619.1	C	NM_003949		39888584	-1	no_errors	ENST00000310778	ensembl	human	known	70_37	silent	SNP	0.962	T
HAT1	8520	genome.wustl.edu	37	2	172848125	172848125	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:172848125G>A	ENST00000264108.4	+	11	1155	c.1119G>A	c.(1117-1119)atG>atA	p.M373I	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.M288I	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	373					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TTGCTAAGATGAGAAAATGTC	0.343																																																	0													93.0	93.0	93.0					2																	172848125		2203	4300	6503	SO:0001583	missense	8520			AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.1119G>A	2.37:g.172848125G>A	ENSP00000264108:p.Met373Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	pfam_Hat1_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su	p.M373I	ENST00000264108.4	37	c.1119	CCDS2245.1	2	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319347	0.60524	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	L	0.31294	0.92	0.80722	D	1	B	0.16396	0.017	B	0.12837	0.008	T	0.51450	-0.8704	9	0.87932	D	0	-27.8351	20.3593	0.98849	0.0:0.0:1.0:0.0	.	373	O14929	HAT1_HUMAN	I	288;373	.	ENSP00000264108:M373I	M	+	3	0	HAT1	172556371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.372000	0.79612	2.807000	0.96579	0.591000	0.81541	ATG	HAT1	-	pirsf_Hist_AcTrfase_B-typ_cat-su		0.343	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAT1	HGNC	protein_coding	OTTHUMT00000255377.1	G	NM_003642		172848125	+1	no_errors	ENST00000264108	ensembl	human	known	70_37	missense	SNP	1.000	A
HBS1L	10767	genome.wustl.edu	37	6	135358409	135358409	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:135358409C>T	ENST00000367837.5	-	4	637				HBS1L_ENST00000367822.5_Missense_Mutation_p.D396N|HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000314674.3_Intron|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000367820.2_Intron|HBS1L_ENST00000367826.2_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase						signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TTACAAAGGTCAGATAAAGTA	0.398																																																	0													142.0	117.0	125.0					6																	135358409		692	1591	2283	SO:0001627	intron_variant	10767			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.430+2301G>A	6.37:g.135358409C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	pfam_DUF1916	p.D396N	ENST00000367837.5	37	c.1186	CCDS5173.1	6	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257251	0.59321	.	.	ENSG00000112339	ENST00000367822	.	.	.	5.53	3.73	0.42828	.	.	.	.	.	T	0.33933	0.0880	.	.	.	0.80722	D	1	B	0.24186	0.099	B	0.25884	0.064	T	0.32214	-0.9915	7	0.66056	D	0.02	.	10.0412	0.42160	0.0:0.79:0.1371:0.0728	.	396	Q9Y450-2	.	N	396	.	ENSP00000356796:D396N	D	-	1	0	HBS1L	135400102	1.000000	0.71417	0.696000	0.30242	0.971000	0.66376	1.550000	0.36223	0.791000	0.33826	0.655000	0.94253	GAC	HBS1L	-	NULL		0.398	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBS1L	HGNC	protein_coding	OTTHUMT00000042339.2	C			135358409	-1	no_errors	ENST00000367822	ensembl	human	known	70_37	missense	SNP	1.000	T
HCAR2	338442	genome.wustl.edu	37	12	123187019	123187019	+	Missense_Mutation	SNP	G	G	C	rs199788788		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:123187019G>C	ENST00000328880.5	-	1	871	c.812C>G	c.(811-813)tCg>tGg	p.S271W	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	271					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	CAGGTCCACCGAGCGGTACAC	0.542																																																	0													46.0	42.0	44.0					12																	123187019		2203	4294	6497	SO:0001583	missense	338442			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.812C>G	12.37:g.123187019G>C	ENSP00000375066:p.Ser271Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJL5|A7LGG3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.S271W	ENST00000328880.5	37	c.812	CCDS9235.1	12	.	.	.	.	.	.	.	.	.	.	G	8.977	0.974299	0.18736	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.72615	-0.67	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.353602	0.24014	N	0.042349	T	0.81616	0.4860	M	0.74467	2.265	0.18873	N	0.999981	D	0.76494	0.999	D	0.80764	0.994	T	0.72343	-0.4322	10	0.38643	T	0.18	-17.3605	11.7461	0.51821	0.0:0.1777:0.8223:0.0	.	271	Q8TDS4	HCAR2_HUMAN	W	271	ENSP00000375066:S271W	ENSP00000375066:S271W	S	-	2	0	HCAR2	121752972	0.004000	0.15560	0.114000	0.21550	0.021000	0.10359	0.531000	0.23052	2.746000	0.94184	0.563000	0.77884	TCG	HCAR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	HGNC	protein_coding	OTTHUMT00000370202.1	G	NM_177551		123187019	-1	no_errors	ENST00000328880	ensembl	human	known	70_37	missense	SNP	0.039	C
HCFC1	3054	genome.wustl.edu	37	X	153225702	153225702	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:153225702G>A	ENST00000310441.7	-	7	2034	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000354233.3_Silent_p.L356L|HCFC1_ENST00000369984.4_Silent_p.L356L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	356					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTAGGTACCAGAGGTCCTTGC	0.627																																																	0													36.0	40.0	39.0					X																	153225702		2037	4144	6181	SO:0001819	synonymous_variant	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.1068C>T	X.37:g.153225702G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P4G5	Silent	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.L356	ENST00000310441.7	37	c.1068	CCDS44020.1	X																																																																																			HCFC1	-	NULL		0.627	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	G	NM_005334		153225702	-1	no_errors	ENST00000310441	ensembl	human	known	70_37	silent	SNP	0.986	A
HCFC1	3054	genome.wustl.edu	37	X	153225740	153225740	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:153225740G>A	ENST00000310441.7	-	7	1996	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000354233.3_Missense_Mutation_p.R344C|HCFC1_ENST00000369984.4_Missense_Mutation_p.R344C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	344					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCCTTGCGGTAGCCGTCA	0.642																																																	0													31.0	36.0	34.0					X																	153225740		2073	4171	6244	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.1030C>T	X.37:g.153225740G>A	ENSP00000309555:p.Arg344Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.R344C	ENST00000310441.7	37	c.1030	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	G	31	5.063010	0.93898	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.66995	-0.24;-0.24;3.82	5.39	5.39	0.77823	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.81749	0.4888	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.84208	0.0454	10	0.87932	D	0	.	16.8686	0.86035	0.0:0.0:1.0:0.0	.	344	P51610	HCFC1_HUMAN	C	344	ENSP00000309555:R344C;ENSP00000359001:R344C;ENSP00000346174:R344C	ENSP00000309555:R344C	R	-	1	0	HCFC1	152878934	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.654000	0.61469	2.244000	0.73946	0.600000	0.82982	CGC	HCFC1	-	NULL		0.642	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	G	NM_005334		153225740	-1	no_errors	ENST00000310441	ensembl	human	known	70_37	missense	SNP	1.000	A
HCN2	610	genome.wustl.edu	37	19	613851	613851	+	Splice_Site	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:613851G>C	ENST00000251287.2	+	7	1878		c.e7-1		AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2						cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCACGTGCAGAGATCTGCCT	0.731																																					Melanoma(145;1175 2427 8056 36306)												0													17.0	21.0	20.0					19																	613851		2156	4225	6381	SO:0001630	splice_region_variant	610			AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1826-1G>C	19.37:g.613851G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O60742|O60743|O75267|Q9UBS2	Splice_Site	SNP	-	e7-1	ENST00000251287.2	37	c.1826-1	CCDS12035.1	19	.	.	.	.	.	.	.	.	.	.	g	19.52	3.843220	0.71488	.	.	ENSG00000099822	ENST00000251287	.	.	.	3.83	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1504	0.72692	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HCN2	564851	1.000000	0.71417	0.997000	0.53966	0.753000	0.42808	9.058000	0.93896	1.876000	0.54355	0.425000	0.28330	.	HCN2	-	-		0.731	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN2	HGNC	protein_coding	OTTHUMT00000452100.1	G	NM_001194	Intron	613851	+1	no_errors	ENST00000251287	ensembl	human	known	70_37	splice_site	SNP	1.000	C
HDAC4	9759	genome.wustl.edu	37	2	240048391	240048391	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:240048391C>T	ENST00000345617.3	-	12	2086				HDAC4_ENST00000541256.1_Splice_Site|HDAC4_ENST00000543185.1_Intron	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4						B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AGATACCAGTCTGAAGATAAT	0.577																																																	0													33.0	39.0	37.0					2																	240048391		2203	4300	6503	SO:0001627	intron_variant	9759			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1295-16G>A	2.37:g.240048391C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UND6	Splice_Site	SNP	-	e10-1	ENST00000345617.3	37	c.1202-1	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425827	0.62733	.	.	ENSG00000068024	ENST00000456922;ENST00000541256	.	.	.	4.14	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9992	0.71459	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HDAC4	239713328	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	2.316000	0.43761	2.043000	0.60533	0.563000	0.77884	.	HDAC4	-	-		0.577	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	C	NM_006037		240048391	-1	no_errors	ENST00000541256	ensembl	human	known	70_37	splice_site	SNP	1.000	T
HDC	3067	genome.wustl.edu	37	15	50550607	50550607	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:50550607G>A	ENST00000267845.3	-	3	714	c.312C>T	c.(310-312)ttC>ttT	p.F104F	HDC_ENST00000543581.1_Silent_p.F104F	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		TCACCCAGGTGAATCCCAAGC	0.537																																					GBM(95;1627 1936 6910 9570)												0													85.0	72.0	76.0					15																	50550607		2196	4295	6491	SO:0001819	synonymous_variant	3067				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.312C>T	15.37:g.50550607G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC	p.F104	ENST00000267845.3	37	c.312	CCDS10134.1	15																																																																																			HDC	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC		0.537	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDC	HGNC	protein_coding	OTTHUMT00000254540.1	G			50550607	-1	no_errors	ENST00000267845	ensembl	human	known	70_37	silent	SNP	1.000	A
HDLBP	3069	genome.wustl.edu	37	2	242168950	242168950	+	3'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:242168950G>A	ENST00000391975.1	-	0	4100				HDLBP_ENST00000391976.2_3'UTR|HDLBP_ENST00000310931.4_3'UTR|HDLBP_ENST00000427183.2_3'UTR	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGGTCAGATTGAGACAAACCA	0.587																																																	0																																										SO:0001624	3_prime_UTR_variant	3069				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.*66C>T	2.37:g.242168950G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	RNA	SNP	-	NULL	ENST00000391975.1	37	NULL	CCDS2547.1	2																																																																																			HDLBP	-	-		0.587	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	G	NM_203346		242168950	-1	no_errors	ENST00000484412	ensembl	human	putative	70_37	rna	SNP	0.133	A
HDLBP	3069	genome.wustl.edu	37	2	242168952	242168952	+	3'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:242168952G>A	ENST00000391975.1	-	0	4098				HDLBP_ENST00000391976.2_3'UTR|HDLBP_ENST00000310931.4_3'UTR|HDLBP_ENST00000427183.2_3'UTR	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GTCAGATTGAGACAAACCATT	0.592																																																	0																																										SO:0001624	3_prime_UTR_variant	3069				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.*64C>T	2.37:g.242168952G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	RNA	SNP	-	NULL	ENST00000391975.1	37	NULL	CCDS2547.1	2																																																																																			HDLBP	-	-		0.592	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	G	NM_203346		242168952	-1	no_errors	ENST00000484412	ensembl	human	putative	70_37	rna	SNP	0.005	A
HDLBP	3069	genome.wustl.edu	37	2	242168993	242168993	+	3'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:242168993G>C	ENST00000391975.1	-	0	4057				HDLBP_ENST00000391976.2_3'UTR|HDLBP_ENST00000310931.4_3'UTR|HDLBP_ENST00000427183.2_3'UTR	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GCAGGCTGGAGAGGGTTCTGT	0.547																																																	0													124.0	123.0	124.0					2																	242168993		2203	4300	6503	SO:0001624	3_prime_UTR_variant	3069				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.*23C>G	2.37:g.242168993G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	RNA	SNP	-	NULL	ENST00000391975.1	37	NULL	CCDS2547.1	2																																																																																			HDLBP	-	-		0.547	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	G	NM_203346		242168993	-1	no_errors	ENST00000484412	ensembl	human	putative	70_37	rna	SNP	0.064	C
HEATR1	55127	genome.wustl.edu	37	1	236750791	236750791	+	Splice_Site	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:236750791C>G	ENST00000366582.3	-	14	1741		c.e14-1		HEATR1_ENST00000366581.2_Splice_Site	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1						rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTTGAAAATCTAAAGGGAAA	0.308																																																	0													32.0	31.0	31.0					1																	236750791		2198	4284	6482	SO:0001630	splice_region_variant	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1627-1G>C	1.37:g.236750791C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3Q8|Q6P197|Q9NW23	Splice_Site	SNP	-	e13-1	ENST00000366582.3	37	c.1627-1	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.209026	0.39003	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6679	0.85258	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEATR1	234817414	1.000000	0.71417	0.998000	0.56505	0.336000	0.28762	3.042000	0.49815	2.530000	0.85305	0.655000	0.94253	.	HEATR1	-	-		0.308	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	C	XM_375853	Intron	236750791	-1	no_errors	ENST00000366582	ensembl	human	known	70_37	splice_site	SNP	1.000	G
HEATR4	399671	genome.wustl.edu	37	14	73987662	73987662	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:73987662C>T	ENST00000553558.1	-	4	1284	c.963G>A	c.(961-963)acG>acA	p.T321T	RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000334988.2_Silent_p.T321T|RP3-414A15.2_ENST00000555972.2_RNA|HEATR4_ENST00000560393.1_Silent_p.T274T	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	321										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGGAGAGGCTCGTCTTTTCAT	0.512																																																	0													162.0	147.0	152.0					14																	73987662		2203	4300	6503	SO:0001819	synonymous_variant	399671			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.963G>A	14.37:g.73987662C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7V9|E9KL41	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.T321	ENST00000553558.1	37	c.963	CCDS9815.2	14																																																																																			HEATR4	-	NULL		0.512	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	C	NM_203309		73987662	-1	no_errors	ENST00000334988	ensembl	human	known	70_37	silent	SNP	0.000	T
HEATR6	63897	genome.wustl.edu	37	17	58121197	58121197	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:58121197C>T	ENST00000184956.6	-	20	3289	c.3273G>A	c.(3271-3273)atG>atA	p.M1091I	MIR4737_ENST00000583979.1_RNA|AC005702.3_ENST00000582298.1_RNA|AC005702.4_ENST00000583144.1_RNA|HEATR6_ENST00000585976.1_Missense_Mutation_p.M979I|AC005702.1_ENST00000581326.1_RNA|AC005702.2_ENST00000577558.1_RNA	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1091							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GGGTTTCTTTCATACAAGGGA	0.488																																																	0													101.0	102.0	102.0					17																	58121197		2203	4300	6503	SO:0001583	missense	63897			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.3273G>A	17.37:g.58121197C>T	ENSP00000184956:p.Met1091Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.M1091I	ENST00000184956.6	37	c.3273	CCDS11623.1	17	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.295617	0.00245	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.62105	0.05	5.15	3.15	0.36227	Armadillo-like helical (1);Armadillo-type fold (1);	0.109676	0.64402	N	0.000007	T	0.23210	0.0561	N	0.00966	-1.09	0.21897	N	0.99949	B;B	0.14012	0.009;0.0	B;B	0.08055	0.003;0.0	T	0.33624	-0.9861	10	0.02654	T	1	-7.7341	6.3136	0.21178	0.1636:0.1533:0.6832:0.0	.	826;1091	E7ESB9;Q6AI08	.;HEAT6_HUMAN	I	1091;826	ENSP00000184956:M1091I	ENSP00000184956:M1091I	M	-	3	0	HEATR6	55475979	0.008000	0.16893	0.637000	0.29366	0.016000	0.09150	0.114000	0.15520	0.674000	0.31244	-0.134000	0.14843	ATG	HEATR6	-	superfamily_ARM-type_fold		0.488	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR6	HGNC	protein_coding	OTTHUMT00000449165.1	C	NM_022070		58121197	-1	no_errors	ENST00000184956	ensembl	human	known	70_37	missense	SNP	0.564	T
MROH2B	133558	genome.wustl.edu	37	5	41038910	41038910	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:41038910C>G	ENST00000399564.4	-	21	2592	c.2142G>C	c.(2140-2142)aaG>aaC	p.K714N	MROH2B_ENST00000506092.2_Missense_Mutation_p.K269N	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	714																	GAAGTTGCTTCTTGGGAGCAT	0.498																																																	0													73.0	72.0	72.0					5																	41038910		1914	4129	6043	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2142G>C	5.37:g.41038910C>G	ENSP00000382476:p.Lys714Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.K714N	ENST00000399564.4	37	c.2142	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454045	0.43634	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.66638	4.83;-0.22	5.93	-0.806	0.10875	Armadillo-type fold (1);	0.111582	0.39909	N	0.001227	T	0.66187	0.2764	L	0.51422	1.61	0.09310	N	0.999997	D	0.56746	0.977	P	0.55923	0.787	T	0.60388	-0.7273	10	0.33940	T	0.23	.	9.5547	0.39332	0.0:0.4903:0.0:0.5097	.	714	Q7Z745	HTRB2_HUMAN	N	269;419;714	ENSP00000441504:K269N;ENSP00000382476:K714N	ENSP00000296803:K419N	K	-	3	2	HEATR7B2	41074667	0.063000	0.20901	0.026000	0.17262	0.542000	0.35054	0.128000	0.15810	-0.108000	0.12066	0.655000	0.94253	AAG	HEATR7B2	-	superfamily_ARM-type_fold		0.498	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	C	NM_173489		41038910	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	missense	SNP	0.017	G
MROH2B	133558	genome.wustl.edu	37	5	41058167	41058167	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:41058167G>C	ENST00000399564.4	-	7	1204	c.754C>G	c.(754-756)Cag>Gag	p.Q252E	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	252																	GCTCTTACCTGAGTGACATGG	0.507																																																	0													103.0	98.0	99.0					5																	41058167		1889	4109	5998	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.754C>G	5.37:g.41058167G>C	ENSP00000382476:p.Gln252Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q252E	ENST00000399564.4	37	c.754	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160195	0.78226	.	.	ENSG00000171495	ENST00000399564	T	0.08458	3.09	5.27	5.27	0.74061	Armadillo-type fold (1);	0.000000	0.50627	D	0.000101	T	0.26991	0.0661	M	0.69823	2.125	0.40456	D	0.980196	D	0.56035	0.974	D	0.70487	0.969	T	0.00221	-1.1905	10	0.49607	T	0.09	.	14.2725	0.66159	0.0:0.0:1.0:0.0	.	252	Q7Z745	HTRB2_HUMAN	E	252	ENSP00000382476:Q252E	ENSP00000382476:Q252E	Q	-	1	0	HEATR7B2	41093924	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.090000	0.41682	2.732000	0.93576	0.650000	0.86243	CAG	HEATR7B2	-	superfamily_ARM-type_fold		0.507	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	G	NM_173489		41058167	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	missense	SNP	1.000	C
HECTD1	25831	genome.wustl.edu	37	14	31611083	31611083	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:31611083C>T	ENST00000399332.1	-	18	3342	c.2854G>A	c.(2854-2856)Gaa>Aaa	p.E952K	HECTD1_ENST00000553700.1_Missense_Mutation_p.E952K|RNU6-541P_ENST00000384709.1_RNA	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	952					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCTTCATTTTCACTAAAGGCA	0.284																																																	0													53.0	51.0	51.0					14																	31611083		1802	4044	5846	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2854G>A	14.37:g.31611083C>T	ENSP00000382269:p.Glu952Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.E952K	ENST00000399332.1	37	c.2854	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724908	0.30593	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.39229	1.09;1.09;1.58	5.29	5.29	0.74685	Armadillo-type fold (1);	0.491622	0.17512	U	0.171580	T	0.29355	0.0731	L	0.28192	0.835	0.80722	D	1	B;B	0.29378	0.011;0.243	B;B	0.24541	0.003;0.054	T	0.09378	-1.0677	10	0.06891	T	0.86	-14.45	17.6915	0.88269	0.0:1.0:0.0:0.0	.	952;952	D3DS86;Q9ULT8	.;HECD1_HUMAN	K	952;954;952;426	ENSP00000450697:E952K;ENSP00000382269:E952K;ENSP00000451860:E426K	ENSP00000261312:E954K	E	-	1	0	HECTD1	30680834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.666000	0.68059	2.451000	0.82905	0.655000	0.94253	GAA	HECTD1	-	superfamily_ARM-type_fold		0.284	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	C			31611083	-1	no_errors	ENST00000399332	ensembl	human	known	70_37	missense	SNP	1.000	T
HECTD1	25831	genome.wustl.edu	37	14	31641296	31641296	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:31641296G>C	ENST00000399332.1	-	7	1677	c.1189C>G	c.(1189-1191)Cag>Gag	p.Q397E	HECTD1_ENST00000553700.1_Missense_Mutation_p.Q397E	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	397					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AATAGAGTCTGACCTACATCA	0.274																																																	0													54.0	52.0	52.0					14																	31641296		1793	4061	5854	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.1189C>G	14.37:g.31641296G>C	ENSP00000382269:p.Gln397Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.Q397E	ENST00000399332.1	37	c.1189	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	G	18.97	3.734938	0.69189	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.33216	1.42;1.42;1.42	5.33	5.33	0.75918	Ankyrin repeat-containing domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	L	0.60455	1.87	0.80722	D	1	P	0.40332	0.713	P	0.48654	0.585	T	0.43278	-0.9401	10	0.87932	D	0	-6.1843	19.0278	0.92939	0.0:0.0:1.0:0.0	.	397	Q9ULT8	HECD1_HUMAN	E	397	ENSP00000450697:Q397E;ENSP00000382269:Q397E;ENSP00000452015:Q397E	ENSP00000261312:Q397E	Q	-	1	0	HECTD1	30711047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	2.501000	0.84356	0.484000	0.47621	CAG	HECTD1	-	superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.274	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	G			31641296	-1	no_errors	ENST00000399332	ensembl	human	known	70_37	missense	SNP	1.000	C
HECTD3	79654	genome.wustl.edu	37	1	45468859	45468859	+	3'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:45468859G>C	ENST00000372172.4	-	0	2962				HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_3'UTR	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TGGGGACCTAGATGGCCCCCT	0.512																																																	0																																										SO:0001624	3_prime_UTR_variant	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.*305C>G	1.37:g.45468859G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPV7|B3KRH4|Q5T448|Q9H783	RNA	SNP	-	NULL	ENST00000372172.4	37	NULL	CCDS41318.1	1																																																																																			HECTD3	-	-		0.512	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	G	NM_024602		45468859	-1	no_errors	ENST00000486132	ensembl	human	known	70_37	rna	SNP	0.000	C
HECTD3	79654	genome.wustl.edu	37	1	45474374	45474374	+	Splice_Site	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:45474374C>T	ENST00000372172.4	-	8	1144		c.e8-1		HECTD3_ENST00000372168.3_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					ATCCCATCATCTGGGGGAAGG	0.552																																																	0													126.0	117.0	120.0					1																	45474374		2050	4207	6257	SO:0001630	splice_region_variant	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1073-1G>A	1.37:g.45474374C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPV7|B3KRH4|Q5T448|Q9H783	Splice_Site	SNP	-	e8-1	ENST00000372172.4	37	c.1073-1	CCDS41318.1	1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463097	0.63513	.	.	ENSG00000126107	ENST00000372172	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.243	0.87019	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HECTD3	45246961	1.000000	0.71417	0.999000	0.59377	0.775000	0.43874	7.122000	0.77169	2.357000	0.79964	0.655000	0.94253	.	HECTD3	-	-		0.552	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	C	NM_024602	Intron	45474374	-1	no_errors	ENST00000372172	ensembl	human	known	70_37	splice_site	SNP	1.000	T
HECTD4	283450	genome.wustl.edu	37	12	112752316	112752316	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:112752316G>C	ENST00000430131.2	-	0	693				HECTD4_ENST00000377560.5_Missense_Mutation_p.L100V|HECTD4_ENST00000550722.1_Missense_Mutation_p.L100V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4						glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTCTGTAATAGATGGACTGTG	0.373																																																	0																																												283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.-453C>G	12.37:g.112752316G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.L100V	ENST00000430131.2	37	c.298		12	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138816	0.77775	.	.	ENSG00000173064	ENST00000377560;ENST00000550722	D;D	0.93247	-3.19;-3.19	5.94	5.06	0.68205	.	.	.	.	.	D	0.90222	0.6943	N	0.19112	0.55	0.80722	D	1	.	.	.	.	.	.	D	0.90607	0.4549	7	0.87932	D	0	.	11.0691	0.47993	0.1406:0.0:0.8594:0.0	.	.	.	.	V	100	ENSP00000366783:L100V;ENSP00000449784:L100V	ENSP00000366783:L100V	L	-	1	2	C12orf51	111236699	1.000000	0.71417	0.931000	0.37212	0.929000	0.56500	6.360000	0.73064	1.529000	0.49120	0.650000	0.86243	CTA	HECTD4	-	NULL		0.373	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		G	NM_173813		112752316	-1	no_errors	ENST00000377560	ensembl	human	known	70_37	missense	SNP	1.000	C
HECW1	23072	genome.wustl.edu	37	7	43484309	43484309	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:43484309C>T	ENST00000395891.2	+	11	2143	c.1538C>T	c.(1537-1539)tCt>tTt	p.S513F	HECW1_ENST00000453890.1_Missense_Mutation_p.S513F	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	513	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						gGAGATGTGTCTACCCTGGAG	0.632																																																	0													27.0	34.0	31.0					7																	43484309		2132	4223	6355	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1538C>T	7.37:g.43484309C>T	ENSP00000379228:p.Ser513Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.S513F	ENST00000395891.2	37	c.1538	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541694	0.45280	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.34072	1.41;1.38	5.12	5.12	0.69794	.	1.424000	0.03740	N	0.254761	T	0.37839	0.1018	L	0.34521	1.04	0.09310	N	1	P;P	0.38642	0.641;0.641	B;B	0.37833	0.133;0.259	T	0.49011	-0.8983	10	0.87932	D	0	.	14.9834	0.71327	0.0:0.8569:0.143:0.0	.	513;513	B4DH42;Q76N89	.;HECW1_HUMAN	F	513	ENSP00000379228:S513F;ENSP00000407774:S513F	ENSP00000265522:S513F	S	+	2	0	HECW1	43450834	0.000000	0.05858	0.004000	0.12327	0.207000	0.24258	0.094000	0.15107	2.370000	0.80446	0.561000	0.74099	TCT	HECW1	-	NULL		0.632	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	C	NM_015052		43484309	+1	no_errors	ENST00000395891	ensembl	human	known	70_37	missense	SNP	0.007	T
HERC1	8925	genome.wustl.edu	37	15	63932560	63932560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:63932560G>A	ENST00000443617.2	-	61	11779	c.11692C>T	c.(11692-11694)Cag>Tag	p.Q3898*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3898					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CACAACAGCTGATCCAGATGA	0.483																																																	0													107.0	107.0	107.0					15																	63932560		2089	4233	6322	SO:0001587	stop_gained	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.11692C>T	15.37:g.63932560G>A	ENSP00000390158:p.Gln3898*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IW65	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.Q3898*	ENST00000443617.2	37	c.11692	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	53	20.458144	0.99931	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.72	5.72	0.89469	.	0.150554	0.45361	D	0.000367	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	19.8753	0.96867	0.0:0.0:1.0:0.0	.	.	.	.	X	3898	.	ENSP00000390158:Q3898X	Q	-	1	0	HERC1	61719613	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.481000	0.66826	2.711000	0.92665	0.655000	0.94253	CAG	HERC1	-	NULL		0.483	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	G	NM_003922		63932560	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	nonsense	SNP	1.000	A
HERC1	8925	genome.wustl.edu	37	15	63946435	63946435	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:63946435G>A	ENST00000443617.2	-	51	10260	c.10173C>T	c.(10171-10173)ctC>ctT	p.L3391L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3391					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAGTGCGCACGAGTTGCTGAG	0.542																																																	0													90.0	87.0	88.0					15																	63946435		2050	4207	6257	SO:0001819	synonymous_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.10173C>T	15.37:g.63946435G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IW65	Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.L3391	ENST00000443617.2	37	c.10173	CCDS45277.1	15																																																																																			HERC1	-	NULL		0.542	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	G	NM_003922		63946435	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	silent	SNP	0.953	A
HERC1	8925	genome.wustl.edu	37	15	63970083	63970083	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:63970083G>A	ENST00000443617.2	-	37	7118	c.7031C>T	c.(7030-7032)tCt>tTt	p.S2344F	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2344					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GACCTTGGCAGACGTGCTGCC	0.478																																																	0													177.0	181.0	179.0					15																	63970083		2107	4238	6345	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7031C>T	15.37:g.63970083G>A	ENSP00000390158:p.Ser2344Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.S2344F	ENST00000443617.2	37	c.7031	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925950	0.73327	.	.	ENSG00000103657	ENST00000443617	T	0.26957	1.7	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.34221	0.0890	L	0.47716	1.5	0.58432	D	0.999999	P	0.50943	0.94	P	0.46850	0.529	T	0.02852	-1.1102	10	0.59425	D	0.04	.	20.0628	0.97684	0.0:0.0:1.0:0.0	.	2344	Q15751	HERC1_HUMAN	F	2344	ENSP00000390158:S2344F	ENSP00000390158:S2344F	S	-	2	0	HERC1	61757136	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.720000	0.68470	2.745000	0.94114	0.655000	0.94253	TCT	HERC1	-	NULL		0.478	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	G	NM_003922		63970083	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	missense	SNP	1.000	A
HERC1	8925	genome.wustl.edu	37	15	63970165	63970165	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:63970165G>C	ENST00000443617.2	-	37	7036	c.6949C>G	c.(6949-6951)Ctt>Gtt	p.L2317V	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2317					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCAACTCTAAGACCAGCATCA	0.577																																																	0													130.0	134.0	133.0					15																	63970165		2129	4241	6370	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6949C>G	15.37:g.63970165G>C	ENSP00000390158:p.Leu2317Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.L2317V	ENST00000443617.2	37	c.6949	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834056	0.71373	.	.	ENSG00000103657	ENST00000443617	T	0.31769	1.48	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000008	T	0.49218	0.1544	L	0.55481	1.735	0.54753	D	0.999985	D	0.63880	0.993	D	0.70016	0.967	T	0.46414	-0.9193	10	0.72032	D	0.01	.	12.8878	0.58053	0.0743:0.0:0.9257:0.0	.	2317	Q15751	HERC1_HUMAN	V	2317	ENSP00000390158:L2317V	ENSP00000390158:L2317V	L	-	1	0	HERC1	61757218	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.795000	0.75140	2.635000	0.89317	0.655000	0.94253	CTT	HERC1	-	NULL		0.577	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	G	NM_003922		63970165	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	missense	SNP	1.000	C
HES4	57801	genome.wustl.edu	37	1	934943	934943	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:934943C>T	ENST00000304952.6	-	3	392	c.255G>A	c.(253-255)gtG>gtA	p.V85V	RP11-54O7.17_ENST00000606034.1_lincRNA|HES4_ENST00000428771.2_Silent_p.V111V|HES4_ENST00000484667.2_Silent_p.V53V			Q9HCC6	HES4_HUMAN	hes family bHLH transcription factor 4	85	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			lung(2)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCAGGTGTCTCACGGTCATCT	0.736																																																	0													12.0	16.0	15.0					1																	934943		2158	4259	6417	SO:0001819	synonymous_variant	57801			BC012351	CCDS5.1, CCDS44034.1	1p36	2013-10-17	2013-10-17		ENSG00000188290	ENSG00000188290		"""Basic helix-loop-helix proteins"""	24149	protein-coding gene	gene with protein product		608060	"""hairy and enhancer of split 4 (Drosophila)"""			11260262, 15254753	Standard	NM_021170		Approved	bHLHb42	uc001aci.2	Q9HCC6	OTTHUMG00000040758	ENST00000304952.6:c.255G>A	1.37:g.934943C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SVA5	Silent	SNP	pfam_Orange,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom	p.V111	ENST00000304952.6	37	c.333	CCDS5.1	1																																																																																			HES4	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.736	HES4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HES4	HGNC	protein_coding	OTTHUMT00000097944.1	C	NM_021170		934943	-1	no_errors	ENST00000428771	ensembl	human	known	70_37	silent	SNP	0.994	T
HEXIM2	124790	genome.wustl.edu	37	17	43246675	43246675	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:43246675G>C	ENST00000307275.3	+	4	796	c.360G>C	c.(358-360)caG>caC	p.Q120H	RP13-890H12.2_ENST00000589796.1_RNA|RP13-890H12.2_ENST00000589451.1_RNA|HEXIM2_ENST00000591576.1_Missense_Mutation_p.Q120H|HEXIM2_ENST00000592695.1_Missense_Mutation_p.Q120H	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	120					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						ATGAGAGGCAGAGCCAGAGGG	0.637																																																	0													30.0	35.0	33.0					17																	43246675		2203	4300	6503	SO:0001583	missense	124790			AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.360G>C	17.37:g.43246675G>C	ENSP00000302276:p.Gln120His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DX66	Missense_Mutation	SNP	NULL	p.Q120H	ENST00000307275.3	37	c.360	CCDS11496.1	17	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074075	0.55646	.	.	ENSG00000168517	ENST00000307275	.	.	.	4.83	2.84	0.33178	.	0.112290	0.64402	D	0.000014	T	0.68183	0.2973	M	0.62016	1.91	0.38833	D	0.955888	D	0.76494	0.999	D	0.71870	0.975	T	0.70128	-0.4957	9	0.87932	D	0	-39.5849	8.2091	0.31473	0.2499:0.0:0.7501:0.0	.	120	Q96MH2	HEXI2_HUMAN	H	120	.	ENSP00000302276:Q120H	Q	+	3	2	HEXIM2	40602458	1.000000	0.71417	0.999000	0.59377	0.665000	0.39181	3.144000	0.50616	0.761000	0.33130	-1.075000	0.02238	CAG	HEXIM2	-	NULL		0.637	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXIM2	HGNC	protein_coding	OTTHUMT00000450181.1	G	NM_144608		43246675	+1	no_errors	ENST00000307275	ensembl	human	known	70_37	missense	SNP	1.000	C
HEXIM2	124790	genome.wustl.edu	37	17	43246703	43246703	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:43246703G>C	ENST00000307275.3	+	4	824	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	RP13-890H12.2_ENST00000589796.1_RNA|RP13-890H12.2_ENST00000589451.1_RNA|HEXIM2_ENST00000591576.1_Missense_Mutation_p.E130Q|HEXIM2_ENST00000592695.1_Missense_Mutation_p.E130Q	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	130					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						GGTCCGCGAAGAGATGTTCGC	0.627																																																	0													36.0	40.0	39.0					17																	43246703		2203	4300	6503	SO:0001583	missense	124790			AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.388G>C	17.37:g.43246703G>C	ENSP00000302276:p.Glu130Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DX66	Missense_Mutation	SNP	NULL	p.E130Q	ENST00000307275.3	37	c.388	CCDS11496.1	17	.	.	.	.	.	.	.	.	.	.	G	7.468	0.646003	0.14451	.	.	ENSG00000168517	ENST00000307275	.	.	.	4.6	2.59	0.31030	.	0.100830	0.64402	D	0.000003	T	0.36468	0.0968	L	0.28115	0.83	0.34251	D	0.678814	B	0.16802	0.019	B	0.20384	0.029	T	0.38950	-0.9637	9	0.33940	T	0.23	-30.7555	9.2951	0.37811	0.0815:0.1454:0.7731:0.0	.	130	Q96MH2	HEXI2_HUMAN	Q	130	.	ENSP00000302276:E130Q	E	+	1	0	HEXIM2	40602486	1.000000	0.71417	0.985000	0.45067	0.234000	0.25298	6.042000	0.70996	0.670000	0.31165	-1.259000	0.01468	GAG	HEXIM2	-	NULL		0.627	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXIM2	HGNC	protein_coding	OTTHUMT00000450181.1	G	NM_144608		43246703	+1	no_errors	ENST00000307275	ensembl	human	known	70_37	missense	SNP	1.000	C
HEXIM2	124790	genome.wustl.edu	37	17	43246907	43246907	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:43246907G>A	ENST00000307275.3	+	4	1028	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	RP13-890H12.2_ENST00000589796.1_RNA|RP13-890H12.2_ENST00000589451.1_RNA|HEXIM2_ENST00000591576.1_Missense_Mutation_p.E198K|HEXIM2_ENST00000592695.1_Missense_Mutation_p.E198K	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	198					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						TGAGACTTACGAACGCTTCCA	0.657																																																	0																																										SO:0001583	missense	124790			AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.592G>A	17.37:g.43246907G>A	ENSP00000302276:p.Glu198Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DX66	Missense_Mutation	SNP	NULL	p.E198K	ENST00000307275.3	37	c.592	CCDS11496.1	17	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978211	0.74360	.	.	ENSG00000168517	ENST00000307275	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.83413	0.5249	M	0.84683	2.71	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	D	0.86400	0.1741	9	0.87932	D	0	-26.6696	16.5996	0.84810	0.0:0.0:1.0:0.0	.	198	Q96MH2	HEXI2_HUMAN	K	198	.	ENSP00000302276:E198K	E	+	1	0	HEXIM2	40602690	1.000000	0.71417	0.961000	0.40146	0.066000	0.16364	7.501000	0.81600	2.563000	0.86464	0.561000	0.74099	GAA	HEXIM2	-	NULL		0.657	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXIM2	HGNC	protein_coding	OTTHUMT00000450181.1	G	NM_144608		43246907	+1	no_errors	ENST00000307275	ensembl	human	known	70_37	missense	SNP	1.000	A
HEXIM2	124790	genome.wustl.edu	37	17	43246949	43246949	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:43246949G>C	ENST00000307275.3	+	4	1070	c.634G>C	c.(634-636)Gag>Cag	p.E212Q	RP13-890H12.2_ENST00000589796.1_RNA|RP13-890H12.2_ENST00000589451.1_RNA|HEXIM2_ENST00000591576.1_Missense_Mutation_p.E212Q|HEXIM2_ENST00000592695.1_Missense_Mutation_p.E212Q	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	212					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						CAGCAAGCAGGAGCTGGTGCG	0.657																																																	0													13.0	10.0	11.0					17																	43246949		2137	4182	6319	SO:0001583	missense	124790			AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.634G>C	17.37:g.43246949G>C	ENSP00000302276:p.Glu212Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DX66	Missense_Mutation	SNP	NULL	p.E212Q	ENST00000307275.3	37	c.634	CCDS11496.1	17	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753435	0.89753	.	.	ENSG00000168517	ENST00000307275	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.76090	0.3939	L	0.58583	1.82	0.50313	D	0.99986	D	0.89917	1.0	D	0.87578	0.998	T	0.78216	-0.2290	9	0.66056	D	0.02	-29.0645	16.5996	0.84810	0.0:0.0:1.0:0.0	.	212	Q96MH2	HEXI2_HUMAN	Q	212	.	ENSP00000302276:E212Q	E	+	1	0	HEXIM2	40602732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.357000	0.79456	2.563000	0.86464	0.561000	0.74099	GAG	HEXIM2	-	NULL		0.657	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXIM2	HGNC	protein_coding	OTTHUMT00000450181.1	G	NM_144608		43246949	+1	no_errors	ENST00000307275	ensembl	human	known	70_37	missense	SNP	1.000	C
HEXIM2	124790	genome.wustl.edu	37	17	43247063	43247063	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:43247063G>C	ENST00000307275.3	+	4	1184	c.748G>C	c.(748-750)Gag>Cag	p.E250Q	RP13-890H12.2_ENST00000589796.1_RNA|RP13-890H12.2_ENST00000589451.1_RNA|HEXIM2_ENST00000591576.1_Missense_Mutation_p.E250Q|HEXIM2_ENST00000592695.1_Missense_Mutation_p.E250Q	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	250	Interaction with CCNT1, HEXIM1 and HEXIM2.				negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						CCGCCAGGTGGAGGAGCTGGC	0.662																																																	0													7.0	6.0	6.0					17																	43247063		1962	3858	5820	SO:0001583	missense	124790			AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.748G>C	17.37:g.43247063G>C	ENSP00000302276:p.Glu250Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DX66	Missense_Mutation	SNP	NULL	p.E250Q	ENST00000307275.3	37	c.748	CCDS11496.1	17	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415659	0.25552	.	.	ENSG00000168517	ENST00000307275	.	.	.	4.39	3.34	0.38264	.	0.255167	0.40222	N	0.001148	T	0.16896	0.0406	N	0.17082	0.46	0.26093	N	0.98092	P	0.36392	0.551	B	0.28784	0.094	T	0.11842	-1.0571	9	0.18710	T	0.47	-26.4362	9.7084	0.40229	0.0:0.2115:0.7885:0.0	.	250	Q96MH2	HEXI2_HUMAN	Q	250	.	ENSP00000302276:E250Q	E	+	1	0	HEXIM2	40602846	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.829000	0.39121	2.436000	0.82500	0.462000	0.41574	GAG	HEXIM2	-	NULL		0.662	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXIM2	HGNC	protein_coding	OTTHUMT00000450181.1	G	NM_144608		43247063	+1	no_errors	ENST00000307275	ensembl	human	known	70_37	missense	SNP	1.000	C
HEXDC	284004	genome.wustl.edu	37	17	80399095	80399095	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:80399095C>G	ENST00000327949.9	+	10	1127	c.1116C>G	c.(1114-1116)gtC>gtG	p.V372V	HEXDC_ENST00000577944.1_Missense_Mutation_p.Q375E|HEXDC_ENST00000337014.6_Nonsense_Mutation_p.S402*			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	372					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCACACAAGTCAGCCTCCATC	0.667																																																	0													50.0	54.0	53.0					17																	80399095		2027	4192	6219	SO:0001819	synonymous_variant	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.1116C>G	17.37:g.80399095C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7UUP6|Q8IYN4|Q8TE81	Nonsense_Mutation	SNP	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF	p.S402*	ENST00000327949.9	37	c.1205		17	.	.	.	.	.	.	.	.	.	.	C	39	7.808949	0.98501	.	.	ENSG00000169660	ENST00000337014	.	.	.	5.1	3.02	0.34903	.	0.857477	0.09788	N	0.755813	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	5.8631	0.18760	0.0:0.6461:0.162:0.192	.	.	.	.	X	402	.	ENSP00000337854:S402X	S	+	2	0	HEXDC	77992384	0.994000	0.37717	0.975000	0.42487	0.443000	0.32047	0.245000	0.18142	0.482000	0.27582	0.563000	0.77884	TCA	HEXDC	-	NULL		0.667	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	HEXDC	HGNC	protein_coding	OTTHUMT00000443513.1	C	NM_173620		80399095	+1	no_errors	ENST00000337014	ensembl	human	known	70_37	nonsense	SNP	0.999	G
HIC2	23119	genome.wustl.edu	37	22	21799586	21799586	+	Silent	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:21799586C>A	ENST00000443632.2	+	2	774	c.402C>A	c.(400-402)ctC>ctA	p.L134L	HIC2_ENST00000407598.2_Silent_p.L134L|HIC2_ENST00000407464.2_Silent_p.L134L			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	134					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TGGCAGCCCTCTGCCGCCGCA	0.706																																					NSCLC(23;437 858 2282 27947 40366)												0													16.0	20.0	19.0					22																	21799586		2203	4295	6498	SO:0001819	synonymous_variant	23119			AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.402C>A	22.37:g.21799586C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L134	ENST00000443632.2	37	c.402	CCDS13789.1	22																																																																																			HIC2	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.706	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIC2	HGNC	protein_coding	OTTHUMT00000320061.2	C			21799586	+1	no_errors	ENST00000407464	ensembl	human	known	70_37	silent	SNP	0.993	A
HIF1A	3091	genome.wustl.edu	37	14	62162552	62162552	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:62162552G>C	ENST00000337138.4	+	1	295	c.30G>C	c.(28-30)aaG>aaC	p.K10N	HIF1A_ENST00000394997.1_Missense_Mutation_p.K10N|HIF1A_ENST00000323441.6_Missense_Mutation_p.K10N|HIF1A-AS1_ENST00000557544.1_lincRNA|HIF1A_ENST00000557538.1_5'Flank|HIF1A_ENST00000539097.1_5'Flank	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	10	Interaction with TSGA10. {ECO:0000250}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	CGAACGACAAGAAAAAGTAAG	0.726																																																	0													22.0	27.0	25.0					14																	62162552		2187	4288	6475	SO:0001583	missense	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.30G>C	14.37:g.62162552G>C	ENSP00000338018:p.Lys10Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS	p.K10N	ENST00000337138.4	37	c.30	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018998	0.54576	.	.	ENSG00000100644	ENST00000337138;ENST00000394997;ENST00000323441	T;T;T	0.56103	0.59;0.64;0.48	4.61	1.73	0.24493	.	0.855261	0.10622	N	0.653218	T	0.67998	0.2953	M	0.79258	2.445	0.80722	D	1	D;D;D	0.58268	0.981;0.982;0.982	D;P;P	0.67231	0.95;0.624;0.624	T	0.64854	-0.6309	10	0.66056	D	0.02	.	6.5438	0.22394	0.313:0.0:0.687:0.0	.	10;10;10	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	N	10	ENSP00000338018:K10N;ENSP00000378446:K10N;ENSP00000323326:K10N	ENSP00000323326:K10N	K	+	3	2	HIF1A	61232305	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.685000	0.37659	0.575000	0.29434	0.491000	0.48974	AAG	HIF1A	-	NULL		0.726	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	G	NM_001530		62162552	+1	no_errors	ENST00000337138	ensembl	human	known	70_37	missense	SNP	1.000	C
HIGD2A	192286	genome.wustl.edu	37	5	175816403	175816403	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:175816403C>G	ENST00000274787.2	+	2	299	c.226C>G	c.(226-228)Cag>Gag	p.Q76E	NOP16_ENST00000510123.1_5'Flank|NOP16_ENST00000507413.1_5'Flank|NOP16_ENST00000509257.1_5'Flank|NOP16_ENST00000389158.5_5'Flank	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	76	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.				negative regulation of apoptotic process (GO:0043066)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		CCAGCGCTCTCAGCTCATGAT	0.637																																																	0													66.0	73.0	71.0					5																	175816403		2203	4300	6503	SO:0001583	missense	192286			BC007502	CCDS4401.1	5q35.2	2009-03-17	2009-03-17		ENSG00000146066	ENSG00000146066			28311	protein-coding gene	gene with protein product			"""HIG1 domain family, member 2A"""			12477932	Standard	NM_138820		Approved	MGC2198	uc003meg.3	Q9BW72	OTTHUMG00000130657	ENST00000274787.2:c.226C>G	5.37:g.175816403C>G	ENSP00000274787:p.Gln76Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Hypoxia_induced_domain	p.Q76E	ENST00000274787.2	37	c.226	CCDS4401.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.571273	0.96553	.	.	ENSG00000146066	ENST00000274787	.	.	.	5.89	5.89	0.94794	Hypoxia induced protein, domain (2);	0.000000	0.85682	D	0.000000	D	0.84224	0.5425	H	0.95679	3.705	0.80722	D	1	D	0.54601	0.967	P	0.51945	0.685	D	0.87567	0.2475	9	0.52906	T	0.07	-16.9141	20.2618	0.98447	0.0:1.0:0.0:0.0	.	76	Q9BW72	HIG2A_HUMAN	E	76	.	ENSP00000274787:Q76E	Q	+	1	0	HIGD2A	175749009	1.000000	0.71417	0.977000	0.42913	0.901000	0.52897	7.437000	0.80417	2.793000	0.96121	0.655000	0.94253	CAG	HIGD2A	-	pfam_Hypoxia_induced_domain		0.637	HIGD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIGD2A	HGNC	protein_coding	OTTHUMT00000253147.1	C	NM_138820		175816403	+1	no_errors	ENST00000274787	ensembl	human	known	70_37	missense	SNP	1.000	G
COL1A1	1277	genome.wustl.edu	37	17	48258430	48258430	+	IGR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:48258430G>A	ENST00000225964.5	-	0	6727				HILS1_ENST00000504307.1_RNA	NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1						blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TCCCTTTCTAGAATTTTCCAT	0.473			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																																	Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	0																																										SO:0001628	intergenic_variant	373861			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674		17.37:g.48258430G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	RNA	SNP	-	NULL	ENST00000225964.5	37	NULL	CCDS11561.1	17																																																																																			HILS1	-	-		0.473	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HILS1	HGNC	protein_coding	OTTHUMT00000309036.2	G			48258430	-1	no_errors	ENST00000504307	ensembl	human	known	70_37	rna	SNP	0.030	A
HIST1H4F	8361	genome.wustl.edu	37	6	26240726	26240726	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:26240726G>C	ENST00000377745.2	+	1	166	c.73G>C	c.(73-75)Gac>Cac	p.D25H		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	25					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AGTGCTGCGTGACAACATACA	0.557																																																	0													51.0	49.0	50.0					6																	26240726		2203	4300	6503	SO:0001583	missense	8361			M60749	CCDS4598.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198327			"""Histones / Replication-dependent"""	4783	protein-coding gene	gene with protein product		602824	"""H4 histone family, member C"", ""histone 1, H4f"""	H4FC		1916825, 9119399, 12408966	Standard	NM_003540		Approved	H4/c, H4	uc003nhe.1	P62805	OTTHUMG00000014443	ENST00000377745.2:c.73G>C	6.37:g.26240726G>C	ENSP00000366974:p.Asp25His	Somatic		WXS	Illumina HiSeq	Phase_IV	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.D25H	ENST00000377745.2	37	c.73	CCDS4598.1	6	.	.	.	.	.	.	.	.	.	.	.	18.23	3.577730	0.65878	.	.	ENSG00000198327	ENST00000377745	.	.	.	4.69	4.69	0.59074	.	0.050814	0.85682	D	0.000000	T	0.71962	0.3402	.	.	.	0.46317	D	0.998986	.	.	.	.	.	.	T	0.75878	-0.3162	6	0.87932	D	0	.	17.1533	0.86783	0.0:0.0:1.0:0.0	.	.	.	.	H	25	.	ENSP00000366974:D25H	D	+	1	0	HIST1H4F	26348705	1.000000	0.71417	0.990000	0.47175	0.011000	0.07611	9.222000	0.95196	2.614000	0.88457	0.655000	0.94253	GAC	HIST1H4F	-	superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4		0.557	HIST1H4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4F	HGNC	protein_coding	OTTHUMT00000040106.1	G	NM_003540		26240726	+1	no_errors	ENST00000377745	ensembl	human	known	70_37	missense	SNP	1.000	C
HIST1H4G	8369	genome.wustl.edu	37	6	26247124	26247124	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:26247124G>C	ENST00000244537.4	-	1	135	c.82C>G	c.(82-84)Cag>Gag	p.Q28E		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	28						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GTAATGCCCTGAATATTATCG	0.552																																																	0													55.0	51.0	52.0					6																	26247124		2203	4300	6503	SO:0001583	missense	8369			Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"""Histones / Replication-dependent"""	4792	protein-coding gene	gene with protein product		602832	"""H4 histone family, member L"", ""histone 1, H4g"""	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.82C>G	6.37:g.26247124G>C	ENSP00000244537:p.Gln28Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4	p.Q28E	ENST00000244537.4	37	c.82	CCDS4599.1	6	.	.	.	.	.	.	.	.	.	.	.	11.33	1.608304	0.28623	.	.	ENSG00000124578	ENST00000244537	T	0.67865	-0.29	3.07	3.07	0.35406	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.56077	0.1961	.	.	.	0.37861	D	0.929723	P	0.36354	0.549	B	0.42214	0.38	T	0.66126	-0.6001	8	0.66056	D	0.02	.	14.0978	0.65034	0.0:0.0:1.0:0.0	.	28	Q99525	H4G_HUMAN	E	28	ENSP00000244537:Q28E	ENSP00000244537:Q28E	Q	-	1	0	HIST1H4G	26355103	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	8.737000	0.91562	1.704000	0.51252	0.134000	0.15878	CAG	HIST1H4G	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4		0.552	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4G	HGNC	protein_coding	OTTHUMT00000040107.1	G	NM_003547		26247124	-1	no_errors	ENST00000244537	ensembl	human	known	70_37	missense	SNP	1.000	C
HIST1H2BL	8340	genome.wustl.edu	37	6	27775463	27775463	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:27775463G>C	ENST00000377401.2	-	1	246	c.222C>G	c.(220-222)atC>atG	p.I74M	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2AI_ENST00000358739.3_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	74					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I74I(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CCTCGCTTGCGATGCGCTCGA	0.612																																																	1	Substitution - coding silent(1)	cervix(1)											152.0	144.0	147.0					6																	27775463		2203	4300	6503	SO:0001583	missense	8340			Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"""Histones / Replication-dependent"""	4748	protein-coding gene	gene with protein product		602800	"""H2B histone family, member C"", ""histone 1, H2bl"""	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.222C>G	6.37:g.27775463G>C	ENSP00000366618:p.Ile74Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5A3|Q52LW9	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.I74M	ENST00000377401.2	37	c.222	CCDS4625.1	6	.	.	.	.	.	.	.	.	.	.	.	11.76	1.733411	0.30684	.	.	ENSG00000185130	ENST00000377401	T	0.46063	0.88	4.35	3.48	0.39840	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.59742	0.2216	M	0.93507	3.425	0.25961	N	0.982629	P	0.46220	0.874	P	0.60473	0.875	T	0.57653	-0.7774	9	0.87932	D	0	.	12.0668	0.53592	0.0859:0.0:0.9141:0.0	.	74	Q99880	H2B1L_HUMAN	M	74	ENSP00000366618:I74M	ENSP00000366618:I74M	I	-	3	3	HIST1H2BL	27883442	1.000000	0.71417	0.998000	0.56505	0.269000	0.26545	1.780000	0.38634	1.120000	0.41904	-0.140000	0.14226	ATC	HIST1H2BL	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.612	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BL	HGNC	protein_coding	OTTHUMT00000040153.1	G	NM_003519		27775463	-1	no_errors	ENST00000377401	ensembl	human	known	70_37	missense	SNP	1.000	C
HIST1H1B	3009	genome.wustl.edu	37	6	27834714	27834714	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:27834714C>T	ENST00000331442.3	-	1	645	c.594G>A	c.(592-594)ccG>ccA	p.P198P		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	198					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)	p.P198P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTGCCGCCTTCGGCTTAACTG	0.557																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											71.0	68.0	69.0					6																	27834714		2203	4300	6503	SO:0001819	synonymous_variant	3009			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.594G>A	6.37:g.27834714C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14529|Q3MJ42	Silent	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.P198	ENST00000331442.3	37	c.594	CCDS4635.1	6																																																																																			HIST1H1B	-	prints_Histone_H5		0.557	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	C	NM_005322		27834714	-1	no_errors	ENST00000331442	ensembl	human	known	70_37	silent	SNP	0.208	T
HIST2H2BE	8349	genome.wustl.edu	37	1	149857834	149857834	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:149857834G>A	ENST00000369155.2	-	1	398	c.357C>T	c.(355-357)gtC>gtT	p.V119V	HIST2H2AC_ENST00000331380.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	119					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGTACTTGGTGACCGCCTTGG	0.672																																																	0													30.0	34.0	33.0					1																	149857834		2202	4298	6500	SO:0001819	synonymous_variant	8349			AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.357C>T	1.37:g.149857834G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.V119	ENST00000369155.2	37	c.357	CCDS936.1	1																																																																																			HIST2H2BE	-	superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.672	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BE	HGNC	protein_coding	OTTHUMT00000033455.1	G	NM_003528		149857834	-1	no_errors	ENST00000369155	ensembl	human	known	70_37	silent	SNP	1.000	A
HIVEP2	3097	genome.wustl.edu	37	6	143074955	143074955	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:143074955G>C	ENST00000367604.1	-	9	7269	c.6630C>G	c.(6628-6630)gtC>gtG	p.V2210V	RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367603.2_Silent_p.V2210V|HIVEP2_ENST00000012134.2_Silent_p.V2210V			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GATGACTGAAGACATAGTCAT	0.532																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													109.0	110.0	109.0					6																	143074955		1935	4134	6069	SO:0001819	synonymous_variant	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6630C>G	6.37:g.143074955G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q02646|Q5THT5|Q9NS05	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V2210	ENST00000367604.1	37	c.6630	CCDS43510.1	6																																																																																			HIVEP2	-	NULL		0.532	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	G			143074955	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	silent	SNP	1.000	C
HK1	3098	genome.wustl.edu	37	10	71142457	71142457	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:71142457G>A	ENST00000359426.6	+	10	1584	c.1480G>A	c.(1480-1482)Gag>Aag	p.E494K	HK1_ENST00000360289.2_Missense_Mutation_p.E482K|HK1_ENST00000298649.3_Missense_Mutation_p.E493K|HK1_ENST00000448642.2_Missense_Mutation_p.E529K|HK1_ENST00000404387.2_Missense_Mutation_p.E498K|HK1_ENST00000494253.1_3'UTR	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	494	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GATGCGGGCCGAGATGGAGCT	0.617																																																	0													86.0	66.0	73.0					10																	71142457		2203	4300	6503	SO:0001583	missense	3098			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1480G>A	10.37:g.71142457G>A	ENSP00000352398:p.Glu494Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.E529K	ENST00000359426.6	37	c.1585	CCDS7292.1	10	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949183	0.92660	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.99207	-5.56;-5.56;-5.56;-5.56;-5.56	5.53	5.53	0.82687	Hexokinase, N-terminal (1);	0.044743	0.85682	D	0.000000	D	0.99557	0.9841	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.997;0.997;1.0;1.0;0.999	D;P;P;D;D;D	0.77004	0.969;0.879;0.808;0.989;0.981;0.964	D	0.98413	1.0573	10	0.72032	D	0.01	.	19.8134	0.96556	0.0:0.0:1.0:0.0	.	494;494;493;529;498;482	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	K	482;529;498;493;494;494	ENSP00000353433:E482K;ENSP00000402103:E529K;ENSP00000384774:E498K;ENSP00000298649:E493K;ENSP00000352398:E494K	ENSP00000298649:E493K	E	+	1	0	HK1	70812463	1.000000	0.71417	0.964000	0.40570	0.432000	0.31715	9.743000	0.98849	2.767000	0.95098	0.655000	0.94253	GAG	HK1	-	pfam_Hexokinase_N		0.617	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK1	HGNC	protein_coding	OTTHUMT00000048429.2	G	NM_000188		71142457	+1	no_errors	ENST00000448642	ensembl	human	known	70_37	missense	SNP	1.000	A
HLA-A	3105	genome.wustl.edu	37	6	29910647	29910647	+	Missense_Mutation	SNP	G	G	C	rs199474387		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:29910647G>C	ENST00000396634.1	+	4	528	c.187G>C	c.(187-189)Gac>Cac	p.D63H	HLA-A_ENST00000376802.2_Missense_Mutation_p.D63H|HLA-A_ENST00000376806.5_Missense_Mutation_p.D63H|HLA-A_ENST00000376809.5_Missense_Mutation_p.D63H			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	63	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GTTCGACAGCGACGCCGCGAG	0.667									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0													51.0	47.0	48.0					6																	29910647		2202	4298	6500	SO:0001583	missense	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.187G>C	6.37:g.29910647G>C	ENSP00000379873:p.Asp63His	Somatic		WXS	Illumina HiSeq	Phase_IV	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.D63H	ENST00000396634.1	37	c.187	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	15.69	2.908575	0.52439	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00856	5.61;5.61;5.61;5.61	3.72	2.83	0.33086	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.384680	0.05515	U	0.561134	T	0.08935	0.0221	H	0.99987	5.26	0.24861	N	0.992347	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;1.0	T	0.49934	-0.8886	10	0.62326	D	0.03	.	6.5333	0.22339	0.1325:0.0:0.8675:0.0	.	63;63;63;63;63	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	H	63	ENSP00000379873:D63H;ENSP00000366002:D63H;ENSP00000366005:D63H;ENSP00000365998:D63H	ENSP00000348012:D63H	D	+	1	0	HLA-A	30018626	0.446000	0.25665	0.960000	0.40013	0.800000	0.45204	0.890000	0.28295	2.112000	0.64535	0.478000	0.44815	GAC	HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.667	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29910647	+1	no_errors	ENST00000376806	ensembl	human	known	70_37	missense	SNP	0.899	C
HLA-A	3105	genome.wustl.edu	37	6	29910744	29910744	+	Nonsense_Mutation	SNP	C	C	G	rs281864739|rs199474451		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:29910744C>G	ENST00000396634.1	+	4	625	c.284C>G	c.(283-285)tCa>tGa	p.S95*	HLA-A_ENST00000376802.2_Nonsense_Mutation_p.S95*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.S95*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.S95*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	95	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						AAGGCCCAGTCACAGACTGAC	0.682									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0													73.0	78.0	77.0					6																	29910744		2197	4292	6489	SO:0001587	stop_gained	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.284C>G	6.37:g.29910744C>G	ENSP00000379873:p.Ser95*	Somatic		WXS	Illumina HiSeq	Phase_IV	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.S95*	ENST00000396634.1	37	c.284	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	36	5.607162	0.96626	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	3.57	0.5	0.16919	.	0.693044	0.10708	U	0.643154	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.7655	0.05319	0.2212:0.5135:0.0:0.2654	.	.	.	.	X	95	.	ENSP00000348012:S95X	S	+	2	0	HLA-A	30018723	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	0.123000	0.15708	-0.013000	0.14199	0.478000	0.44815	TCA	HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2		0.682	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	C	NM_002116		29910744	+1	no_errors	ENST00000376806	ensembl	human	known	70_37	nonsense	SNP	0.000	G
HLA-F-AS1	285830	genome.wustl.edu	37	6	29716805	29716805	+	RNA	SNP	G	G	A	rs114419664	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:29716805G>A	ENST00000458236.1	-	0	0				Y_RNA_ENST00000362420.1_RNA|XXbac-BPG170G13.32_ENST00000606834.1_lincRNA					HLA-F antisense RNA 1																		GCGGAGCCGCGAAGGCCCACC	0.627																																																	0																																												285830			AK092748		6p22.1	2013-06-03	2012-08-15		ENSG00000214922	ENSG00000214922		"""Long non-coding RNAs"""	26645	non-coding RNA	RNA, long non-coding			"""HLA-F antisense RNA 1 (non-protein coding)"""				Standard	NR_026972		Approved		uc003nnp.2		OTTHUMG00000185970		6.37:g.29716805G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000458236.1	37	NULL		6																																																																																			HLA-F-AS1	-	-		0.627	HLA-F-AS1-002	KNOWN	basic	processed_transcript	HLA-F-AS1	HGNC	processed_transcript	OTTHUMT00000471862.1	G	NR_026972		29716805	-1	no_errors	ENST00000399247	ensembl	human	known	70_37	rna	SNP	0.011	A
HCG17	414778	genome.wustl.edu	37	6	30227572	30227572	+	lincRNA	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:30227572C>G	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		GGGCGGGTCTCAGCCTCTCCT	0.741																																																	0																																												3139			AB023055		6p21	2012-11-02	2008-08-13		ENSG00000241701	ENSG00000270604		"""Long non-coding RNAs"""	31339	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 46"", ""long intergenic non-protein coding RNA 46"""						Standard	NR_052012		Approved	NCRNA00046, LINC00046	uc031snc.1		OTTHUMG00000031114		6.37:g.30227572C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000453558.1	37	NULL		6																																																																																			HLA-L	-	-		0.741	HCG17-002	KNOWN	basic|exp_conf	lincRNA	HLA-L	HGNC	lincRNA	OTTHUMT00000256054.1	C	NR_052012		30227572	+1	no_errors	ENST00000482052	ensembl	human	known	70_37	rna	SNP	0.062	G
HLA-B	3106	genome.wustl.edu	37	6	31324477	31324477	+	Nonsense_Mutation	SNP	G	G	A	rs151341205		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:31324477G>A	ENST00000412585.2	-	2	359	c.331C>T	c.(331-333)Cag>Tag	p.Q111*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	111	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GCCTCGCTCTGGTTGTAGTAG	0.687									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0													39.0	42.0	41.0					6																	31324477		2156	4243	6399	SO:0001587	stop_gained	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.331C>T	6.37:g.31324477G>A	ENSP00000399168:p.Gln111*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q29764	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.Q111*	ENST00000412585.2	37	c.331	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	21.5	4.162630	0.78226	.	.	ENSG00000234745	ENST00000412585;ENST00000434333	.	.	.	3.2	3.2	0.36748	.	0.304822	0.17312	U	0.178846	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.0816	0.42393	0.0:0.0:1.0:0.0	.	.	.	.	X	111;122	.	ENSP00000399168:Q111X	Q	-	1	0	HLA-B	31432456	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	1.493000	0.35605	1.808000	0.52836	0.448000	0.29417	CAG	HLA-B	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2		0.687	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	G	NM_005514		31324477	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	nonsense	SNP	1.000	A
HLTF	6596	genome.wustl.edu	37	3	148778607	148778607	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:148778607G>C	ENST00000310053.5	-	11	1392	c.1199C>G	c.(1198-1200)tCa>tGa	p.S400*	HLTF_ENST00000465259.1_Nonsense_Mutation_p.S400*|HLTF_ENST00000392912.2_Nonsense_Mutation_p.S400*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.S400*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	400					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AATTTCCTCTGAATCACTGCT	0.318																																																	0													93.0	88.0	90.0					3																	148778607		2201	4295	6496	SO:0001587	stop_gained	6596			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1199C>G	3.37:g.148778607G>C	ENSP00000308944:p.Ser400*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S400*	ENST00000310053.5	37	c.1199	CCDS33875.1	3	.	.	.	.	.	.	.	.	.	.	G	41	8.643947	0.98897	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.2661	16.1526	0.81632	0.0:0.0:1.0:0.0	.	.	.	.	X	400;400;400;400;397	.	ENSP00000308944:S400X	S	-	2	0	HLTF	150261297	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.024000	0.64090	2.890000	0.99128	0.585000	0.79938	TCA	HLTF	-	smart_Helicase_ATP-bd		0.318	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HLTF	HGNC	protein_coding	OTTHUMT00000356064.1	G			148778607	-1	no_errors	ENST00000310053	ensembl	human	known	70_37	nonsense	SNP	1.000	C
CSF1R	1436	genome.wustl.edu	37	5	149431695	149431695	+	IGR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:149431695G>A	ENST00000286301.3	-	0	3989				HMGXB3_ENST00000503427.1_Silent_p.Q1241Q|HMGXB3_ENST00000502717.1_Silent_p.Q1273Q	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor						cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGGTTGCTCAGATCAAGACAG	0.552																																																	0													102.0	122.0	116.0					5																	149431695		692	1591	2283	SO:0001628	intergenic_variant	22993			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050		5.37:g.149431695G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.Q1273	ENST00000286301.3	37	c.3819	CCDS4302.1	5																																																																																			HMGXB3	-	NULL		0.552	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGXB3	HGNC	protein_coding	OTTHUMT00000252329.2	G	NM_005211		149431695	+1	no_errors	ENST00000502717	ensembl	human	known	70_37	silent	SNP	1.000	A
HMHA1	23526	genome.wustl.edu	37	19	1081908	1081908	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:1081908C>A	ENST00000313093.2	+	19	2696	c.2465C>A	c.(2464-2466)tCg>tAg	p.S822*	HMHA1_ENST00000536472.1_Nonsense_Mutation_p.S690*|HMHA1_ENST00000586866.1_Nonsense_Mutation_p.S826*|HMHA1_ENST00000590214.1_Nonsense_Mutation_p.S849*|HMHA1_ENST00000543365.1_Nonsense_Mutation_p.S705*|HMHA1_ENST00000539243.2_Nonsense_Mutation_p.S838*|HMHA1_ENST00000590577.1_Nonsense_Mutation_p.S457*	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	822	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCGAGCTGTCGCAGGCCTCG	0.657																																																	0													73.0	54.0	61.0					19																	1081908		2203	4300	6503	SO:0001587	stop_gained	23526			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2465C>A	19.37:g.1081908C>A	ENSP00000316772:p.Ser822*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.S822*	ENST00000313093.2	37	c.2465	CCDS32863.1	19	.	.	.	.	.	.	.	.	.	.	c	41	9.129044	0.99075	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5576	16.7261	0.85422	0.0:1.0:0.0:0.0	.	.	.	.	X	838;822;822;690;816;705	.	ENSP00000316772:S822X	S	+	2	0	HMHA1	1032908	1.000000	0.71417	0.997000	0.53966	0.417000	0.31264	5.600000	0.67599	2.175000	0.68902	0.550000	0.68814	TCG	HMHA1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.657	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1	C			1081908	+1	no_errors	ENST00000313093	ensembl	human	known	70_37	nonsense	SNP	1.000	A
HNRNPC	3183	genome.wustl.edu	37	14	21679390	21679390	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:21679390C>T	ENST00000320084.7	-	8	1152	c.913G>A	c.(913-915)Gac>Aac	p.D305N	HNRNPC_ENST00000557201.1_Missense_Mutation_p.D305N|HNRNPC_ENST00000556513.1_3'UTR|HNRNPC_ENST00000553753.1_3'UTR|HNRNPC_ENST00000556142.1_3'UTR|HNRNPC_ENST00000420743.2_Missense_Mutation_p.D305N|HNRNPC_ENST00000553300.1_Missense_Mutation_p.D292N|HNRNPC_ENST00000336053.6_3'UTR|HNRNPC_ENST00000555309.1_Missense_Mutation_p.D304N|HNRNPC_ENST00000555914.1_Missense_Mutation_p.D291N|HNRNPC_ENST00000430246.2_Missense_Mutation_p.D292N|HNRNPC_ENST00000556897.1_Missense_Mutation_p.D292N|HNRNPC_ENST00000556628.1_Missense_Mutation_p.D225N|HNRNPC_ENST00000554969.1_Missense_Mutation_p.D292N|HNRNPC_ENST00000449098.1_Missense_Mutation_p.D292N|HNRNPC_ENST00000555883.1_Missense_Mutation_p.D249N|HNRNPC_ENST00000554455.1_Missense_Mutation_p.D305N	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	305				EDDS -> G (in Ref. 1 and 2). {ECO:0000305}.	3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		GCTTAAGAGTCATCCTCGCCA	0.443																																					NSCLC(108;607 2244 12726 38757)												0													112.0	117.0	115.0					14																	21679390		2030	4157	6187	SO:0001583	missense	3183				CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.913G>A	14.37:g.21679390C>T	ENSP00000319690:p.Asp305Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Missense_Mutation	SNP	pfam_RRM_dom,superfamily_Regulat_G_prot_signal_superfam,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.D305N	ENST00000320084.7	37	c.913	CCDS41915.1	14	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098404	0.76870	.	.	ENSG00000092199	ENST00000320084;ENST00000449098;ENST00000554969;ENST00000554455;ENST00000430246;ENST00000400042;ENST00000555914;ENST00000555309;ENST00000556628;ENST00000555883;ENST00000557201;ENST00000553300;ENST00000556897;ENST00000420743;ENST00000557157	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.17213	2.86;2.69;2.69;2.86;2.69;2.69;2.86;2.29;2.39;2.86;2.69;2.69;2.86;2.54	5.78	5.78	0.91487	.	1.420010	0.07003	U	0.823700	T	0.43055	0.1230	L	0.47716	1.5	0.31916	N	0.614092	D;D;D;D;D	0.76494	0.999;0.999;0.996;0.993;0.996	D;D;D;D;D	0.87578	0.994;0.998;0.987;0.971;0.987	T	0.43180	-0.9407	10	0.87932	D	0	.	18.7706	0.91890	0.0:1.0:0.0:0.0	.	225;249;291;305;292	P07910-3;P07910-4;G3V4C1;P07910;P07910-2	.;.;.;HNRPC_HUMAN;.	N	305;292;292;305;292;101;291;304;225;249;305;292;292;305;213	ENSP00000319690:D305N;ENSP00000404559:D292N;ENSP00000450725:D292N;ENSP00000451291:D305N;ENSP00000442816:D292N;ENSP00000451708:D291N;ENSP00000450790:D304N;ENSP00000451652:D225N;ENSP00000450629:D249N;ENSP00000452276:D305N;ENSP00000450544:D292N;ENSP00000451176:D292N;ENSP00000404848:D305N;ENSP00000450601:D213N	ENSP00000319690:D305N	D	-	1	0	HNRNPC	20749230	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.219000	0.51200	2.724000	0.93272	0.655000	0.94253	GAC	HNRNPC	-	pirsf_hnRNP_C_Raly		0.443	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	HNRNPC	HGNC	protein_coding	OTTHUMT00000410235.1	C			21679390	-1	no_errors	ENST00000320084	ensembl	human	known	70_37	missense	SNP	1.000	T
HNRNPM	4670	genome.wustl.edu	37	19	8532465	8532465	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:8532465G>C	ENST00000325495.4	+	8	872	c.831G>C	c.(829-831)aaG>aaC	p.K277N	HNRNPM_ENST00000348943.3_Missense_Mutation_p.K238N	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	277	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGCACGTCAAGATGGTAAGTC	0.353																																																	0													126.0	111.0	116.0					19																	8532465		2203	4300	6503	SO:0001583	missense	4670			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.831G>C	19.37:g.8532465G>C	ENSP00000325376:p.Lys277Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom	p.K277N	ENST00000325495.4	37	c.831	CCDS12203.1	19	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614959	0.66672	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.36157	1.27;3.35	5.44	0.434	0.16539	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.39332	0.1074	N	0.20530	0.585	0.80722	D	1	P;D;D;P;D	0.89917	0.932;0.992;0.999;0.762;1.0	P;P;D;B;D	0.87578	0.653;0.898;0.998;0.21;0.996	T	0.21965	-1.0230	10	0.87932	D	0	.	9.4031	0.38444	0.593:0.0:0.407:0.0	.	117;277;238;238;177	Q7KYM9;P52272;P52272-2;B4DEG4;Q59ES8	.;HNRPM_HUMAN;.;.;.	N	277;238;177	ENSP00000325376:K277N;ENSP00000325732:K238N	ENSP00000325376:K277N	K	+	3	2	HNRNPM	8438465	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.677000	0.46892	0.131000	0.18576	-0.302000	0.09304	AAG	HNRNPM	-	smart_RRM_dom,pfscan_RRM_dom		0.353	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPM	HGNC	protein_coding	OTTHUMT00000460894.1	G			8532465	+1	no_errors	ENST00000325495	ensembl	human	known	70_37	missense	SNP	1.000	C
HNRNPR	10236	genome.wustl.edu	37	1	23648042	23648042	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:23648042C>T	ENST00000374612.1	-	7	913	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	HNRNPR_ENST00000302271.6_Missense_Mutation_p.E264K|HNRNPR_ENST00000478691.1_Missense_Mutation_p.E163K|HNRNPR_ENST00000426846.2_Missense_Mutation_p.E104K|HNRNPR_ENST00000606561.1_Missense_Mutation_p.E125K|HNRNPR_ENST00000374616.3_Missense_Mutation_p.E264K|HNRNPR_ENST00000427764.2_Missense_Mutation_p.E226K	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	264	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTGAATTCTTCCAAAATGTTT	0.348																																																	0													89.0	89.0	89.0					1																	23648042		2203	4299	6502	SO:0001583	missense	10236			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.790G>A	1.37:g.23648042C>T	ENSP00000363741:p.Glu264Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.E264K	ENST00000374612.1	37	c.790	CCDS232.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.079575	0.94050	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	4.87	4.87	0.63330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	L	0.60845	1.875	0.80722	D	1	P;D;D;D;B;D	0.76494	0.903;0.994;0.994;0.999;0.425;0.999	P;D;D;D;B;D	0.75020	0.814;0.973;0.973;0.985;0.414;0.974	T	0.19128	-1.0315	10	0.87932	D	0	-5.3131	16.9396	0.86213	0.0:1.0:0.0:0.0	.	104;226;125;241;264;264	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	K	264;264;264;226;104	ENSP00000363745:E264K;ENSP00000363741:E264K;ENSP00000304405:E264K;ENSP00000392799:E226K;ENSP00000415042:E104K	ENSP00000304405:E264K	E	-	1	0	HNRNPR	23520629	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.430000	0.82344	0.561000	0.74099	GAA	HNRNPR	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac		0.348	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1	C	NM_005826		23648042	-1	no_errors	ENST00000374616	ensembl	human	known	70_37	missense	SNP	1.000	T
HNRNPR	10236	genome.wustl.edu	37	1	23650114	23650114	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:23650114G>C	ENST00000374612.1	-	6	733	c.610C>G	c.(610-612)Cag>Gag	p.Q204E	HNRNPR_ENST00000302271.6_Missense_Mutation_p.Q204E|HNRNPR_ENST00000478691.1_Missense_Mutation_p.Q103E|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000606561.1_Missense_Mutation_p.Q65E|HNRNPR_ENST00000374616.3_Missense_Mutation_p.Q204E|HNRNPR_ENST00000427764.2_Missense_Mutation_p.Q166E	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	204	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CCTCTATTCTGACCGGACAGT	0.453																																																	0													116.0	116.0	116.0					1																	23650114		2203	4300	6503	SO:0001583	missense	10236			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.610C>G	1.37:g.23650114G>C	ENSP00000363741:p.Gln204Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.Q204E	ENST00000374612.1	37	c.610	CCDS232.1	1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.742061	0.30865	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.29	4.36	0.52297	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.048934	0.85682	N	0.000000	T	0.22975	0.0555	N	0.22421	0.69	0.80722	D	1	D;D;P;B;P	0.57899	0.958;0.981;0.933;0.126;0.917	P;D;P;B;P	0.64877	0.897;0.93;0.796;0.163;0.693	T	0.02909	-1.1095	10	0.09843	T	0.71	-1.8414	14.9106	0.70755	0.0:0.1442:0.8558:0.0	.	166;65;181;204;204	Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;HNRPR_HUMAN;.	E	204;204;204;166	ENSP00000363745:Q204E;ENSP00000363741:Q204E;ENSP00000304405:Q204E;ENSP00000392799:Q166E	ENSP00000304405:Q204E	Q	-	1	0	HNRNPR	23522701	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.695000	0.98691	1.353000	0.45828	0.561000	0.74099	CAG	HNRNPR	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac		0.453	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1	G	NM_005826		23650114	-1	no_errors	ENST00000374616	ensembl	human	known	70_37	missense	SNP	1.000	C
HOPX	84525	genome.wustl.edu	37	4	57523943	57523943	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:57523943C>T	ENST00000337881.7	-	2	645				HOPX_ENST00000317745.7_5'Flank|HOPX_ENST00000554144.1_Missense_Mutation_p.E14K|HOPX_ENST00000381260.3_Intron|HOPX_ENST00000553379.2_5'Flank|HOPX_ENST00000555760.2_5'Flank|HOPX_ENST00000556376.2_Intron|HOPX_ENST00000605395.1_5'Flank|HOPX_ENST00000381255.3_5'Flank|HOPX_ENST00000420433.1_Missense_Mutation_p.E14K|HOPX_ENST00000508121.1_Missense_Mutation_p.E14K|HOPX_ENST00000503639.3_5'Flank|HOPX_ENST00000556614.2_5'Flank	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox						heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					gaaattacctcttccagtctt	0.488																																																	0													91.0	81.0	84.0					4																	57523943		692	1591	2283	SO:0001627	intron_variant	84525				CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"""Homeoboxes / PRD class"""	24961	protein-coding gene	gene with protein product	"""homeobox only domain"""	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.12-1765G>A	4.37:g.57523943C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.E14K	ENST00000337881.7	37	c.40	CCDS3507.1	4	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766431	0.31228	.	.	ENSG00000171476	ENST00000420433;ENST00000554144;ENST00000508121	T;T	0.58940	0.3;0.3	2.95	0.252	0.15545	.	.	.	.	.	T	0.31136	0.0787	N	0.08118	0	0.09310	N	1	B;B	0.25312	0.123;0.004	B;B	0.24394	0.053;0.003	T	0.17379	-1.0371	9	0.30854	T	0.27	-0.0037	4.8659	0.13607	0.0:0.4772:0.0:0.5228	.	14;14	G3V294;E9PB55	.;.	K	14	ENSP00000396275:E14K;ENSP00000422175:E14K	ENSP00000370659:E14K	E	-	1	0	HOPX	57218700	0.000000	0.05858	0.001000	0.08648	0.208000	0.24298	0.542000	0.23222	0.042000	0.15717	0.478000	0.44815	GAG	HOPX	-	NULL		0.488	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HOPX	HGNC	protein_coding	OTTHUMT00000250689.4	C			57523943	-1	no_errors	ENST00000554144	ensembl	human	known	70_37	missense	SNP	0.001	T
HOXB3	3213	genome.wustl.edu	37	17	46628394	46628395	+	Missense_Mutation	DNP	GC	GC	TT	rs534729258		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G|C	G|C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:46628394_46628395GC>TT	ENST00000470495.1	-	2	2044_2045	c.597_598GC>AA	c.(595-600)caGCtg>caAAtg	p.L200M	HOXB3_ENST00000485909.2_Missense_Mutation_p.L68M|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000489475.1_Missense_Mutation_p.L127M|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.L200M|HOXB3_ENST00000498678.1_Missense_Mutation_p.L200M|HOXB3_ENST00000472863.1_Missense_Mutation_p.L127M|HOXB3_ENST00000476342.1_Missense_Mutation_p.L200M|HOXB3_ENST00000460160.1_Missense_Mutation_p.L68M|HOXB3_ENST00000490677.1_Missense_Mutation_p.L66M|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	200				QL -> HV (in Ref. 2; AAD10852). {ECO:0000305}.	angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						AGCTCCACCAGCTGCGCGCTCG	0.703																																																	0																																										SO:0001583	missense	3213				CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.597_598delinsTT	17.37:g.46628394_46628395delinsTT	ENSP00000417207:p.Leu200Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation|Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.L200M|p.Q199	ENST00000470495.1	37	c.598|c.597	CCDS11528.1	17																																																																																			HOXB3	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.703	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB3	HGNC	protein_coding	OTTHUMT00000358261.1	G|C			46628394|46628395	-1	no_errors	ENST00000311626	ensembl	human	known	70_37	missense|silent	SNP	1.000	T
HOXC6	3223	genome.wustl.edu	37	12	54422601	54422601	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:54422601C>G	ENST00000243108.4	+	1	460	c.296C>G	c.(295-297)tCa>tGa	p.S99*	RP11-834C11.12_ENST00000513209.1_Intron|RP11-834C11.14_ENST00000512206.1_RNA|HOXC4_ENST00000303406.4_Intron|HOXC6_ENST00000394331.3_Nonsense_Mutation_p.S17*	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	99					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACACAGACCTCAATCGCTCAG	0.498																																																	0													132.0	128.0	129.0					12																	54422601		2203	4300	6503	SO:0001587	stop_gained	3223				CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"""Homeoboxes / ANTP class : HOXL subclass"""	5128	protein-coding gene	gene with protein product		142972	"""homeo box C6"""	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.296C>G	12.37:g.54422601C>G	ENSP00000243108:p.Ser99*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBV2|Q6DK09	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S99*	ENST00000243108.4	37	c.296	CCDS8871.1	12	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196063	0.78902	.	.	ENSG00000197757	ENST00000504315;ENST00000509328;ENST00000394331;ENST00000243108	.	.	.	5.65	5.65	0.86999	.	0.123729	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.6545	0.91445	0.0:1.0:0.0:0.0	.	.	.	.	X	17;17;17;99	.	ENSP00000243108:S99X	S	+	2	0	HOXC6	52708868	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.686000	0.68211	2.941000	0.99782	0.655000	0.94253	TCA	HOXC6	-	NULL		0.498	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC6	HGNC	protein_coding	OTTHUMT00000358943.2	C			54422601	+1	no_errors	ENST00000243108	ensembl	human	known	70_37	nonsense	SNP	1.000	G
HPD	3242	genome.wustl.edu	37	12	122294313	122294313	+	Splice_Site	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:122294313C>A	ENST00000289004.4	-	6	277		c.e6-1		HPD_ENST00000543163.1_Splice_Site|RP11-7M8.2_ENST00000543848.1_RNA	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase						cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCGCCCATCTCTGTGGCCGGC	0.582																																																	0													153.0	110.0	125.0					12																	122294313		2203	4300	6503	SO:0001630	splice_region_variant	3242			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.242-1G>T	12.37:g.122294313C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K461|B3KQ63|Q13234	Splice_Site	SNP	-	e6-1	ENST00000289004.4	37	c.242-1	CCDS9224.1	12	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270630	0.40194	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4661	0.94943	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HPD	120778696	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	7.300000	0.78841	2.672000	0.90937	0.555000	0.69702	.	HPD	-	-		0.582	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HPD	HGNC	protein_coding	OTTHUMT00000402184.1	C	NM_002150	Intron	122294313	-1	no_errors	ENST00000289004	ensembl	human	known	70_37	splice_site	SNP	1.000	A
HPS5	11234	genome.wustl.edu	37	11	18313229	18313229	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:18313229G>A	ENST00000349215.3	-	16	2477	c.2200C>T	c.(2200-2202)Cgg>Tgg	p.R734W	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000396253.3_Missense_Mutation_p.R620W|HPS5_ENST00000438420.2_Missense_Mutation_p.R620W	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	734					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGTCGTTCCGAAGACCACTT	0.418									Hermansky-Pudlak syndrome																																								0													169.0	156.0	160.0					11																	18313229		2199	4293	6492	SO:0001583	missense	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2200C>T	11.37:g.18313229G>A	ENSP00000265967:p.Arg734Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.R734W	ENST00000349215.3	37	c.2200	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822505	0.50739	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.77229	-1.08;-1.08;-1.08	5.56	4.63	0.57726	.	0.700616	0.14866	N	0.293834	T	0.68787	0.3039	N	0.14661	0.345	0.80722	D	1	D	0.58970	0.984	P	0.45138	0.471	T	0.73360	-0.4007	10	0.72032	D	0.01	.	16.3745	0.83381	0.0:0.1321:0.8679:0.0	.	734	Q9UPZ3	HPS5_HUMAN	W	620;620;734	ENSP00000379552:R620W;ENSP00000399590:R620W;ENSP00000265967:R734W	ENSP00000265967:R734W	R	-	1	2	HPS5	18269805	1.000000	0.71417	0.976000	0.42696	0.177000	0.22998	4.037000	0.57311	1.319000	0.45190	0.655000	0.94253	CGG	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit		0.418	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	G	NM_181507		18313229	-1	no_errors	ENST00000349215	ensembl	human	known	70_37	missense	SNP	0.874	A
HRC	3270	genome.wustl.edu	37	19	49658077	49658077	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:49658077C>T	ENST00000252825.4	-	1	604	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	HRC_ENST00000595625.1_Missense_Mutation_p.E140K|TRPM4_ENST00000252826.5_5'Flank|TRPM4_ENST00000427978.2_5'Flank	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	140	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCCGTGTCTTCACTCCCGTGG	0.597																																					Melanoma(37;75 1097 24567 25669 30645)												0													176.0	128.0	144.0					19																	49658077		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.418G>A	19.37:g.49658077C>T	ENSP00000252825:p.Glu140Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.E140K	ENST00000252825.4	37	c.418	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674205	0.67928	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.06687	3.27	2.6	2.6	0.31112	.	.	.	.	.	T	0.20901	0.0503	L	0.60845	1.875	0.25812	N	0.984381	D	0.76494	0.999	D	0.75484	0.986	T	0.07986	-1.0744	9	0.21014	T	0.42	-0.6964	11.3389	0.49520	0.0:1.0:0.0:0.0	.	140	P23327	SRCH_HUMAN	K	140;110	ENSP00000252825:E140K	ENSP00000252825:E140K	E	-	1	0	HRC	54349889	0.062000	0.20869	0.037000	0.18230	0.019000	0.09904	1.982000	0.40638	1.775000	0.52247	0.462000	0.41574	GAA	HRC	-	NULL		0.597	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	C	NM_002152		49658077	-1	no_errors	ENST00000252825	ensembl	human	known	70_37	missense	SNP	0.342	T
HS3ST3A1	9955	genome.wustl.edu	37	17	13503886	13503886	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:13503886G>A	ENST00000284110.1	-	1	1358	c.561C>T	c.(559-561)ttC>ttT	p.F187F		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	187	Substrate binding.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGCGGTCGAAGAAGTGGGGCT	0.711																																																	0													8.0	9.0	9.0					17																	13503886		2134	4174	6308	SO:0001819	synonymous_variant	9955			AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.561C>T	17.37:g.13503886G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7N2	Silent	SNP	pfam_Sulfotransferase_dom	p.F187	ENST00000284110.1	37	c.561	CCDS11165.1	17																																																																																			HS3ST3A1	-	pfam_Sulfotransferase_dom		0.711	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST3A1	HGNC	protein_coding	OTTHUMT00000129952.1	G	NM_006042		13503886	-1	no_errors	ENST00000284110	ensembl	human	known	70_37	silent	SNP	1.000	A
HSD17B4	3295	genome.wustl.edu	37	5	118788278	118788278	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:118788278C>T	ENST00000256216.6	+	1	141	c.8C>T	c.(7-9)tCa>tTa	p.S3L	HSD17B4_ENST00000414835.2_5'Flank|HSD17B4_ENST00000515320.1_Missense_Mutation_p.S3L|HSD17B4_ENST00000504811.1_5'UTR|HSD17B4_ENST00000510025.1_5'UTR	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	3	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TTCATGGGCTCACCGCTGAGG	0.692																																					Colon(35;490 801 34689 41394 43344)												0													94.0	83.0	87.0					5																	118788278		2202	4300	6502	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.8C>T	5.37:g.118788278C>T	ENSP00000256216:p.Ser3Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.S3L	ENST00000256216.6	37	c.8	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528566	0.44969	.	.	ENSG00000133835	ENST00000256216;ENST00000515320	D;T	0.82344	-1.6;-1.25	4.96	0.825	0.18824	.	0.615974	0.17284	N	0.179887	T	0.73583	0.3605	L	0.46157	1.445	0.09310	N	0.999995	B;B	0.30937	0.103;0.301	B;B	0.35182	0.064;0.197	T	0.65150	-0.6238	10	0.62326	D	0.03	.	1.4251	0.02321	0.1646:0.4587:0.1807:0.196	.	3;3	E9PB82;P51659	.;DHB4_HUMAN	L	3	ENSP00000256216:S3L;ENSP00000424613:S3L	ENSP00000256216:S3L	S	+	2	0	HSD17B4	118816177	0.000000	0.05858	0.378000	0.26068	0.486000	0.33341	0.252000	0.18278	0.246000	0.21394	0.491000	0.48974	TCA	HSD17B4	-	NULL		0.692	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	C	NM_000414		118788278	+1	no_errors	ENST00000256216	ensembl	human	known	70_37	missense	SNP	0.006	T
HSD17B4	3295	genome.wustl.edu	37	5	118835193	118835193	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:118835193C>G	ENST00000256216.6	+	13	1287	c.1154C>G	c.(1153-1155)tCt>tGt	p.S385C	HSD17B4_ENST00000414835.2_Missense_Mutation_p.S245C|HSD17B4_ENST00000513628.1_Missense_Mutation_p.S248C|HSD17B4_ENST00000515320.1_Missense_Mutation_p.S367C|HSD17B4_ENST00000504811.1_Missense_Mutation_p.S410C|HSD17B4_ENST00000509514.1_Missense_Mutation_p.S123C|HSD17B4_ENST00000510025.1_Missense_Mutation_p.S361C	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	385	Enoyl-CoA hydratase 2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GGTCAGAAATCTATGATGGGT	0.358																																					Colon(35;490 801 34689 41394 43344)												0													123.0	135.0	131.0					5																	118835193		2202	4300	6502	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1154C>G	5.37:g.118835193C>G	ENSP00000256216:p.Ser385Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.S385C	ENST00000256216.6	37	c.1154	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	C	5.561	0.288342	0.10513	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.49	-0.114	0.13564	.	0.414174	0.28365	N	0.015609	T	0.67933	0.2946	L	0.45470	1.425	0.09310	N	1	B;B;B;B;B	0.18461	0.004;0.002;0.002;0.028;0.009	B;B;B;B;B	0.17722	0.006;0.007;0.012;0.019;0.011	T	0.56667	-0.7941	10	0.48119	T	0.1	-2.7336	3.7546	0.08581	0.1182:0.518:0.2202:0.1436	.	410;367;361;123;385	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	C	385;367;361;410;245;248;123	ENSP00000256216:S385C;ENSP00000424613:S367C;ENSP00000424940:S361C;ENSP00000420914:S410C;ENSP00000411960:S245C;ENSP00000425993:S248C;ENSP00000426272:S123C	ENSP00000256216:S385C	S	+	2	0	HSD17B4	118863092	0.000000	0.05858	0.015000	0.15790	0.160000	0.22226	0.702000	0.25631	0.233000	0.21120	0.557000	0.71058	TCT	HSD17B4	-	NULL		0.358	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	C	NM_000414		118835193	+1	no_errors	ENST00000256216	ensembl	human	known	70_37	missense	SNP	0.008	G
HSD3B1	3283	genome.wustl.edu	37	1	120056474	120056474	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:120056474G>C	ENST00000369413.3	+	4	473	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	HSD3B1_ENST00000528909.1_Missense_Mutation_p.E110Q|HSD3B1_ENST00000235547.6_Missense_Mutation_p.E112Q			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	110					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	GCTCCTGTTAGAGGCCTGTGT	0.512																																																	0													232.0	233.0	233.0					1																	120056474		2203	4300	6503	SO:0001583	missense	3283			S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.328G>C	1.37:g.120056474G>C	ENSP00000358421:p.Glu110Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA	p.E112Q	ENST00000369413.3	37	c.334	CCDS903.1	1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276432	0.40294	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.89810	-2.57;-2.57;-2.57	3.7	2.76	0.32466	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.099722	0.64402	N	0.000002	D	0.82375	0.5023	M	0.65975	2.015	0.44110	D	0.996886	B;B	0.30889	0.299;0.294	B;B	0.35770	0.192;0.21	T	0.82159	-0.0595	10	0.59425	D	0.04	-20.8165	10.667	0.45736	0.0:0.221:0.779:0.0	.	112;110	Q5TDG2;P14060	.;3BHS1_HUMAN	Q	110;112;110	ENSP00000358421:E110Q;ENSP00000235547:E112Q;ENSP00000432268:E110Q	ENSP00000235547:E112Q	E	+	1	0	HSD3B1	119857997	1.000000	0.71417	0.856000	0.33681	0.572000	0.35998	3.321000	0.51999	0.833000	0.34828	0.491000	0.48974	GAG	HSD3B1	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA		0.512	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD3B1	HGNC	protein_coding	OTTHUMT00000034993.3	G	NM_000862		120056474	+1	no_errors	ENST00000235547	ensembl	human	known	70_37	missense	SNP	1.000	C
HSF1	3297	genome.wustl.edu	37	8	145535024	145535024	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:145535024C>G	ENST00000528838.1	+	6	742	c.582C>G	c.(580-582)atC>atG	p.I194M	HSF1_ENST00000400780.4_Missense_Mutation_p.I129M	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	194	Hydrophobic repeat HR-A/B.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I194M(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			AGTTCCTGATCTCACTGGTGC	0.632																																																	1	Substitution - Missense(1)	large_intestine(1)											72.0	77.0	75.0					8																	145535024		2203	4296	6499	SO:0001583	missense	3297			M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.582C>G	8.37:g.145535024C>G	ENSP00000431512:p.Ile194Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	pfam_Vert_HS_TF,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.I194M	ENST00000528838.1	37	c.582	CCDS6419.1	8	.	.	.	.	.	.	.	.	.	.	C	15.27	2.785166	0.49997	.	.	ENSG00000185122	ENST00000528838;ENST00000533240;ENST00000400780	.	.	.	5.5	3.58	0.41010	.	0.137726	0.49916	D	0.000132	T	0.62221	0.2410	L	0.50333	1.59	0.40708	D	0.982544	D	0.58620	0.983	P	0.55577	0.779	T	0.66428	-0.5926	9	0.87932	D	0	-15.0935	10.3627	0.44003	0.1513:0.7027:0.146:0.0	.	194	Q00613	HSF1_HUMAN	M	194;129;129	.	ENSP00000383590:I129M	I	+	3	3	HSF1	145505832	0.006000	0.16342	1.000000	0.80357	0.977000	0.68977	-0.149000	0.10204	1.261000	0.44149	0.655000	0.94253	ATC	HSF1	-	NULL		0.632	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF1	HGNC	protein_coding	OTTHUMT00000382053.1	C	NM_005526		145535024	+1	no_errors	ENST00000528838	ensembl	human	known	70_37	missense	SNP	0.998	G
HSPA1L	3305	genome.wustl.edu	37	6	31778931	31778931	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:31778931C>T	ENST00000375654.4	-	2	1008	c.819G>A	c.(817-819)aaG>aaA	p.K273K	HSPA1L_ENST00000417199.3_Silent_p.K273K	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	273					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACAGGGTCCTCTTGGCCCTCT	0.527																																																	0													65.0	71.0	69.0					6																	31778931		2203	4300	6503	SO:0001819	synonymous_variant	3305			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.819G>A	6.37:g.31778931C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.K273	ENST00000375654.4	37	c.819	CCDS34413.1	6																																																																																			HSPA1L	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.527	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1L	HGNC	protein_coding	OTTHUMT00000076416.2	C			31778931	-1	no_errors	ENST00000375654	ensembl	human	known	70_37	silent	SNP	1.000	T
HSPA1B	3304	genome.wustl.edu	37	6	31797431	31797431	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:31797431G>C	ENST00000375650.3	+	1	1920	c.1704G>C	c.(1702-1704)aaG>aaC	p.K568N	HSPA1B_ENST00000545241.1_Missense_Mutation_p.K477N	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	568					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			breast(1)|large_intestine(1)|prostate(1)	3						CGGACAAGAAGAAGGTTCTGG	0.582																																																	0													103.0	68.0	79.0					6																	31797431		1930	3980	5910	SO:0001583	missense	3304				CCDS34415.1	6p21.3	2011-09-02	2002-08-29		ENSG00000204388	ENSG00000204388		"""Heat shock proteins / HSP70"""	5233	protein-coding gene	gene with protein product		603012	"""heat shock 70kD protein 1B"""			1700760	Standard	NM_005346		Approved	HSP70-2	uc003nxk.2	P08107	OTTHUMG00000031202	ENST00000375650.3:c.1704G>C	6.37:g.31797431G>C	ENSP00000364801:p.Lys568Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.K568N	ENST00000375650.3	37	c.1704	CCDS34415.1	6	.	.	.	.	.	.	.	.	.	.	G	8.016	0.758663	0.15846	.	.	ENSG00000204388	ENST00000542758;ENST00000375650;ENST00000545429;ENST00000545241	T;T	0.15603	2.41;2.41	4.38	3.48	0.39840	.	0.180091	0.26522	N	0.023909	T	0.11324	0.0276	.	.	.	0.49915	D	0.999837	.	.	.	.	.	.	T	0.03413	-1.1039	7	0.33940	T	0.23	-7.5588	7.3297	0.26575	0.2073:0.0:0.7927:0.0	.	.	.	.	N	635;568;551;477	ENSP00000364801:K568N;ENSP00000442789:K477N	ENSP00000364801:K568N	K	+	3	2	HSPA1B	31905410	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	5.683000	0.68189	2.138000	0.66242	0.467000	0.42956	AAG	HSPA1B	-	pfam_Hsp_70_fam		0.582	HSPA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1B	HGNC	protein_coding	OTTHUMT00000076402.2	G			31797431	+1	no_errors	ENST00000375650	ensembl	human	known	70_37	missense	SNP	1.000	C
HSPA2	3306	genome.wustl.edu	37	14	65008969	65008969	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:65008969C>T	ENST00000394709.1	+	2	1478	c.1402C>T	c.(1402-1404)Ccc>Tcc	p.P468S	HSPA2_ENST00000247207.6_Missense_Mutation_p.P468S|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	468					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GACCGGGATTCCCCCTGCGCC	0.597																																					Pancreas(136;1211 1835 24894 31984 38227)												0													56.0	58.0	57.0					14																	65008969		2203	4300	6503	SO:0001583	missense	3306			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1402C>T	14.37:g.65008969C>T	ENSP00000378199:p.Pro468Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.P468S	ENST00000394709.1	37	c.1402	CCDS9766.1	14	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783472	0.49891	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.05649	3.41;3.41	5.13	5.13	0.70059	.	0.000000	0.53938	U	0.000044	T	0.35885	0.0947	H	0.94306	3.52	0.58432	D	0.999999	D	0.69078	0.997	D	0.64506	0.926	T	0.54302	-0.8314	10	0.87932	D	0	-15.9813	18.6485	0.91421	0.0:1.0:0.0:0.0	.	468	P54652	HSP72_HUMAN	S	468;468;242	ENSP00000378199:P468S;ENSP00000247207:P468S	ENSP00000247207:P468S	P	+	1	0	HSPA2	64078722	1.000000	0.71417	0.988000	0.46212	0.219000	0.24729	6.089000	0.71384	2.399000	0.81585	0.558000	0.71614	CCC	HSPA2	-	pfam_Hsp_70_fam		0.597	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA2	HGNC	protein_coding	OTTHUMT00000280651.1	C			65008969	+1	no_errors	ENST00000247207	ensembl	human	known	70_37	missense	SNP	1.000	T
HSPG2	3339	genome.wustl.edu	37	1	22178679	22178679	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:22178679C>T	ENST00000374695.3	-	53	6851	c.6772G>A	c.(6772-6774)Gag>Aag	p.E2258K	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2258	Ig-like C2-type 8.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GTCTGGCCCTCGGCCACTGTG	0.642																																																	0													54.0	51.0	52.0					1																	22178679		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6772G>A	1.37:g.22178679C>T	ENSP00000363827:p.Glu2258Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.E2258K	ENST00000374695.3	37	c.6772	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209619	0.79240	.	.	ENSG00000142798	ENST00000374695	T	0.14266	2.52	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.551523	0.14285	N	0.329290	T	0.18551	0.0445	M	0.65320	2	0.42662	D	0.993481	P;B	0.39696	0.683;0.357	B;B	0.39840	0.311;0.094	T	0.07770	-1.0755	10	0.12103	T	0.63	.	16.8528	0.85998	0.0:1.0:0.0:0.0	.	198;2258	Q59EG0;P98160	.;PGBM_HUMAN	K	2258	ENSP00000363827:E2258K	ENSP00000363827:E2258K	E	-	1	0	HSPG2	22051266	0.997000	0.39634	0.994000	0.49952	0.982000	0.71751	5.059000	0.64306	2.584000	0.87258	0.561000	0.74099	GAG	HSPG2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22178679	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	0.997	T
HSPG2	3339	genome.wustl.edu	37	1	22181343	22181343	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:22181343G>C	ENST00000374695.3	-	48	6210	c.6131C>G	c.(6130-6132)tCa>tGa	p.S2044*	HSPG2_ENST00000430507.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2044	Ig-like C2-type 5.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GTCCGTACCTGAAAGGACAAC	0.667																																																	0													51.0	51.0	51.0					1																	22181343		2202	4300	6502	SO:0001587	stop_gained	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6131C>G	1.37:g.22181343G>C	ENSP00000363827:p.Ser2044*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16287|Q5SZI3|Q9H3V5	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.S2044*	ENST00000374695.3	37	c.6131	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	45	11.891000	0.99614	.	.	ENSG00000142798	ENST00000374695	.	.	.	5.54	5.54	0.83059	.	1.154950	0.06791	N	0.787004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	12.6883	0.56960	0.0:0.1657:0.8343:0.0	.	.	.	.	X	2044	.	ENSP00000363827:S2044X	S	-	2	0	HSPG2	22053930	0.994000	0.37717	0.967000	0.41034	0.027000	0.11550	2.203000	0.42752	2.620000	0.88729	0.561000	0.74099	TCA	HSPG2	-	NULL		0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	G	NM_005529		22181343	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	nonsense	SNP	0.967	C
HTR1D	3352	genome.wustl.edu	37	1	23519981	23519981	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:23519981G>A	ENST00000374619.1	-	1	1241	c.732C>T	c.(730-732)ctC>ctT	p.L244L	HTR1D_ENST00000314113.3_Silent_p.L244L	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	244					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGCCTGTGATGAGGTGGGCCG	0.607																																																	0													43.0	48.0	46.0					1																	23519981		2203	4300	6503	SO:0001819	synonymous_variant	3352			M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.732C>T	1.37:g.23519981G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt	p.L244	ENST00000374619.1	37	c.732	CCDS231.1	1																																																																																			HTR1D	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1D_rcpt		0.607	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1D	HGNC	protein_coding	OTTHUMT00000008924.1	G	NM_000864		23519981	-1	no_errors	ENST00000314113	ensembl	human	known	70_37	silent	SNP	1.000	A
HTR3D	200909	genome.wustl.edu	37	3	183756156	183756156	+	Splice_Site	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:183756156G>A	ENST00000382489.3	+	7	879		c.e7-1		HTR3D_ENST00000334128.2_Intron|HTR3D_ENST00000453435.1_Intron|HTR3D_ENST00000428798.2_Intron	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	AGAAATTCTAGGTGGCGCCTC	0.567																																																	0													49.0	51.0	50.0					3																	183756156		2203	4300	6503	SO:0001630	splice_region_variant	200909			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.880-1G>A	3.37:g.183756156G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Splice_Site	SNP	-	e7-1	ENST00000382489.3	37	c.880-1	CCDS54685.1	3	.	.	.	.	.	.	.	.	.	.	G	6.126	0.391557	0.11581	.	.	ENSG00000186090	ENST00000382489	.	.	.	3.26	1.84	0.25277	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0202	0.14358	0.2495:0.0:0.7505:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HTR3D	185238850	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.007000	0.12810	0.568000	0.29311	0.462000	0.41574	.	HTR3D	-	-		0.567	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3D	HGNC	protein_coding	OTTHUMT00000346289.1	G	NM_182537	Intron	183756156	+1	no_errors	ENST00000382489	ensembl	human	known	70_37	splice_site	SNP	0.001	A
HTT	3064	genome.wustl.edu	37	4	3117082	3117082	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:3117082C>T	ENST00000355072.5	+	7	944	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	267					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCCCACCATTCGGCGGACAGC	0.468																																																	0													76.0	79.0	78.0					4																	3117082		2053	4213	6266	SO:0001583	missense	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.799C>T	4.37:g.3117082C>T	ENSP00000347184:p.Arg267Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.R267W	ENST00000355072.5	37	c.799	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449090	0.84101	.	.	ENSG00000197386	ENST00000355072	T	0.79352	-1.26	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89753	0.6806	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90113	0.4193	10	0.87932	D	0	.	20.2857	0.98533	0.0:1.0:0.0:0.0	.	267	P42858	HD_HUMAN	W	267	ENSP00000347184:R267W	ENSP00000347184:R267W	R	+	1	2	HTT	3086880	1.000000	0.71417	0.964000	0.40570	0.638000	0.38207	4.402000	0.59722	2.803000	0.96430	0.650000	0.86243	CGG	HTT	-	superfamily_ARM-type_fold		0.468	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	C	NM_002111		3117082	+1	no_errors	ENST00000355072	ensembl	human	known	70_37	missense	SNP	0.997	T
HTT	3064	genome.wustl.edu	37	4	3201506	3201506	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:3201506G>A	ENST00000355072.5	+	41	5561	c.5416G>A	c.(5416-5418)Gat>Aat	p.D1806N		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1806					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTTCCGCAGTGATGGCTGTGG	0.542																																																	0													83.0	88.0	86.0					4																	3201506		2046	4200	6246	SO:0001583	missense	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5416G>A	4.37:g.3201506G>A	ENSP00000347184:p.Asp1806Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.D1806N	ENST00000355072.5	37	c.5416	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541362	0.27563	.	.	ENSG00000197386	ENST00000355072	T	0.05513	3.43	6.04	6.04	0.98038	.	0.168048	0.53938	D	0.000060	T	0.09818	0.0241	M	0.63428	1.95	0.48571	D	0.999677	B	0.16166	0.016	B	0.15484	0.013	T	0.07404	-1.0774	10	0.30078	T	0.28	.	14.6935	0.69103	0.0687:0.0:0.9313:0.0	.	1806	P42858	HD_HUMAN	N	1806	ENSP00000347184:D1806N	ENSP00000347184:D1806N	D	+	1	0	HTT	3171304	1.000000	0.71417	0.041000	0.18516	0.288000	0.27193	7.550000	0.82173	2.873000	0.98535	0.561000	0.74099	GAT	HTT	-	NULL		0.542	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	G	NM_002111		3201506	+1	no_errors	ENST00000355072	ensembl	human	known	70_37	missense	SNP	0.974	A
HUWE1	10075	genome.wustl.edu	37	X	53579708	53579708	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:53579708C>T	ENST00000342160.3	-	61	9098	c.8641G>A	c.(8641-8643)Gag>Aag	p.E2881K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2881K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2881					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGGGCTGCTCAGAACTGCCA	0.602																																																	0													47.0	43.0	45.0					X																	53579708		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8641G>A	X.37:g.53579708C>T	ENSP00000340648:p.Glu2881Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.E2881K	ENST00000342160.3	37	c.8641	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434899	0.43224	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.37411	1.2;1.2	5.88	4.99	0.66335	.	0.479240	0.21908	N	0.067348	T	0.24890	0.0604	N	0.19112	0.55	0.38629	D	0.951334	B;B	0.25609	0.079;0.13	B;B	0.19391	0.011;0.025	T	0.09037	-1.0693	10	0.33940	T	0.23	.	14.3196	0.66476	0.1486:0.8514:0.0:0.0	.	2881;2881	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	K	2881	ENSP00000340648:E2881K;ENSP00000262854:E2881K	ENSP00000262854:E2881K	E	-	1	0	HUWE1	53596433	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.595000	0.54016	2.489000	0.83994	0.600000	0.82982	GAG	HUWE1	-	NULL		0.602	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	C	XM_497119		53579708	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	T
HUWE1	10075	genome.wustl.edu	37	X	53591561	53591561	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:53591561C>G	ENST00000342160.3	-	50	7460	c.7003G>C	c.(7003-7005)Gag>Cag	p.E2335Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2335Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2335	Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGAGCACCTCAGGCTGCCCA	0.572																																																	0													138.0	83.0	102.0					X																	53591561		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7003G>C	X.37:g.53591561C>G	ENSP00000340648:p.Glu2335Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.E2335Q	ENST00000342160.3	37	c.7003	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.17|10.17	1.277084|1.277084	0.23307|0.23307	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.37058|.	1.22;1.22|.	5.28|5.28	4.36|4.36	0.52297|0.52297	.|.	0.063358|.	0.64402|.	D|.	0.000012|.	T|.	0.46229|.	0.1382|.	N|N	0.12182|0.12182	0.205|0.205	0.42735|0.42735	D|D	0.993727|0.993727	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.09377|.	0.002;0.004|.	T|.	0.42481|.	-0.9449|.	10|.	0.54805|.	T|.	0.06|.	.|.	15.4199|15.4199	0.75003|0.75003	0.0:0.8489:0.1511:0.0|0.0:0.8489:0.1511:0.0	.|.	2335;2335|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	Q|S	2335|1368	ENSP00000340648:E2335Q;ENSP00000262854:E2335Q|.	ENSP00000262854:E2335Q|.	E|X	-|-	1|2	0|2	HUWE1|HUWE1	53608286|53608286	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.286000|5.286000	0.65639|0.65639	2.185000|2.185000	0.69588|0.69588	0.513000|0.513000	0.50165|0.50165	GAG|TGA	HUWE1	-	NULL		0.572	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	C	XM_497119		53591561	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	G
HYOU1	10525	genome.wustl.edu	37	11	118918983	118918983	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:118918983C>T	ENST00000404233.3	-	20	2477	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K	HYOU1_ENST00000529972.1_Missense_Mutation_p.E723K|RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000525859.1_Missense_Mutation_p.E723K	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	785					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CCAACACCCTCATCCTCCAGC	0.612																																																	0													82.0	81.0	81.0					11																	118918983		2200	4295	6495	SO:0001583	missense	10525			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2353G>A	11.37:g.118918983C>T	ENSP00000384144:p.Glu785Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E785K	ENST00000404233.3	37	c.2353	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.534057	0.96460	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.14391	2.51;2.51;2.51	5.54	5.54	0.83059	.	0.111023	0.64402	D	0.000009	T	0.34513	0.0900	M	0.82823	2.61	0.80722	D	1	P;B;P;P	0.44429	0.739;0.183;0.835;0.835	B;B;P;P	0.50378	0.403;0.089;0.639;0.639	T	0.03933	-1.0991	10	0.52906	T	0.07	-27.1175	19.2714	0.94011	0.0:1.0:0.0:0.0	.	776;767;785;785	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	K	785;776;723;634;723;766	ENSP00000384144:E785K;ENSP00000437313:E723K;ENSP00000433397:E723K	ENSP00000278752:E776K	E	-	1	0	HYOU1	118424193	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	6.549000	0.73900	2.884000	0.98904	0.655000	0.94253	GAG	HYOU1	-	pfam_Hsp_70_fam		0.612	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	C	NM_006389		118918983	-1	no_errors	ENST00000404233	ensembl	human	known	70_37	missense	SNP	1.000	T
IARS2	55699	genome.wustl.edu	37	1	220311328	220311328	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:220311328C>T	ENST00000302637.5	+	17	2222	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F	IARS2_ENST00000366922.1_Silent_p.F634F|snoU13_ENST00000459443.1_RNA	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	706					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CCAATGTCTTCACCGAAGTTG	0.408																																																	0													156.0	138.0	144.0					1																	220311328		2203	4300	6503	SO:0001819	synonymous_variant	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2118C>T	1.37:g.220311328C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.F706	ENST00000302637.5	37	c.2118	CCDS1523.1	1																																																																																			IARS2	-	pfam_aa-tRNA-synth_Ia,tigrfam_Ile-tRNA-ligase		0.408	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		C	NM_018060		220311328	+1	no_errors	ENST00000302637	ensembl	human	known	70_37	silent	SNP	0.994	T
ID1	3397	genome.wustl.edu	37	20	30193259	30193259	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:30193259G>C	ENST00000376112.3	+	1	174	c.69G>C	c.(67-69)aaG>aaC	p.K23N	MIR3193_ENST00000578262.1_RNA|ID1_ENST00000376105.3_Missense_Mutation_p.K23N	NM_002165.3	NP_002156.2	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	23					angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|collagen metabolic process (GO:0032963)|endothelial cell morphogenesis (GO:0001886)|heart development (GO:0007507)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein destabilization (GO:0031648)|regulation of angiogenesis (GO:0045765)|regulation of MAPK cascade (GO:0043408)|response to antibiotic (GO:0046677)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AGGCCGGCAAGACAGCGAGCG	0.721																																					NSCLC(123;1618 1779 21803 28680 33854)												0													12.0	16.0	15.0					20																	30193259		2117	4176	6293	SO:0001583	missense	3397				CCDS13185.1, CCDS13186.1	20q11	2013-05-21			ENSG00000125968	ENSG00000125968		"""Basic helix-loop-helix proteins"""	5360	protein-coding gene	gene with protein product	"""DNA-binding protein inhibitor ID-1"""	600349				8294468	Standard	NM_002165		Approved	dJ857M17.1.2, bHLHb24	uc002wwg.2	P41134	OTTHUMG00000032181	ENST00000376112.3:c.69G>C	20.37:g.30193259G>C	ENSP00000365280:p.Lys23Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K537|E1P5L4|O00651|O00652|Q16371|Q16377|Q5TE66|Q5TE67|Q969Z7|Q9H0Z5|Q9H109	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.K23N	ENST00000376112.3	37	c.69	CCDS13185.1	20	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591505	0.66219	.	.	ENSG00000125968	ENST00000376112;ENST00000376105	T;T	0.49139	0.81;0.79	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000001	T	0.38453	0.1041	N	0.22421	0.69	0.36577	D	0.873344	B;P	0.50066	0.075;0.931	B;B	0.44224	0.027;0.444	T	0.48779	-0.9005	10	0.45353	T	0.12	-27.2724	15.486	0.75569	0.0:0.0:1.0:0.0	.	23;23	P41134-2;P41134	.;ID1_HUMAN	N	23	ENSP00000365280:K23N;ENSP00000365273:K23N	ENSP00000365273:K23N	K	+	3	2	ID1	29656920	1.000000	0.71417	0.969000	0.41365	0.940000	0.58332	3.941000	0.56607	2.590000	0.87494	0.561000	0.74099	AAG	ID1	-	NULL		0.721	ID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ID1	HGNC	protein_coding	OTTHUMT00000078550.1	G	NM_002165		30193259	+1	no_errors	ENST00000376112	ensembl	human	known	70_37	missense	SNP	0.985	C
ID2	3398	genome.wustl.edu	37	2	8822502	8822502	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:8822502C>T	ENST00000234091.4	+	3	1067	c.207C>T	c.(205-207)atC>atT	p.I69I	ID2_ENST00000396290.1_Silent_p.I69I|ID2_ENST00000331129.3_Silent_p.I69I|AC011747.7_ENST00000455965.1_RNA			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	69	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				adipose tissue development (GO:0060612)|bundle of His development (GO:0003166)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|embryonic digestive tract morphogenesis (GO:0048557)|endodermal digestive tract morphogenesis (GO:0061031)|entrainment of circadian clock by photoperiod (GO:0043153)|enucleate erythrocyte differentiation (GO:0043353)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|locomotor rhythm (GO:0045475)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|membranous septum morphogenesis (GO:0003149)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|natural killer cell differentiation (GO:0001779)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of DNA binding (GO:0043392)|negative regulation of gene expression (GO:0010629)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate commitment (GO:0048663)|olfactory bulb development (GO:0021772)|oligodendrocyte development (GO:0014003)|Peyer's patch development (GO:0048541)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of lipid metabolic process (GO:0019216)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	ion channel binding (GO:0044325)			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCACGTCATCGACTACATCT	0.567																																																	0													80.0	78.0	78.0					2																	8822502		2203	4300	6503	SO:0001819	synonymous_variant	3398				CCDS1659.1	2p25	2013-05-21			ENSG00000115738	ENSG00000115738		"""Basic helix-loop-helix proteins"""	5361	protein-coding gene	gene with protein product	"""cell growth-inhibiting gene 8"""	600386				8294468	Standard	NM_002166		Approved	GIG8, bHLHb26	uc002qza.3	Q02363	OTTHUMG00000112454	ENST00000234091.4:c.207C>T	2.37:g.8822502C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.I69	ENST00000234091.4	37	c.207	CCDS1659.1	2																																																																																			ID2	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.567	ID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ID2	HGNC	protein_coding	OTTHUMT00000231925.2	C	NM_002166		8822502	+1	no_errors	ENST00000234091	ensembl	human	known	70_37	silent	SNP	1.000	T
IDO2	169355	genome.wustl.edu	37	8	39806742	39806742	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:39806742C>G	ENST00000389060.4	+	1	58	c.58C>G	c.(58-60)Cac>Gac	p.H20D	RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000502986.2_Missense_Mutation_p.H33D|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	20					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GGAAAGCTATCACATATCTGA	0.413																																																	0													72.0	70.0	71.0					8																	39806742		1897	4115	6012	SO:0001583	missense	169355			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.58C>G	8.37:g.39806742C>G	ENSP00000426447:p.His20Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A4UD41	Missense_Mutation	SNP	pfam_Indolamine_dOase	p.H33D	ENST00000389060.4	37	c.97		8	.	.	.	.	.	.	.	.	.	.	-	8.371	0.835350	0.16820	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.39997	1.05;1.05	4.92	4.04	0.47022	.	0.211797	0.38436	N	0.001691	T	0.28200	0.0696	L	0.28776	0.89	0.27767	N	0.943629	B	0.24721	0.11	B	0.23419	0.046	T	0.14282	-1.0478	9	.	.	.	.	9.0261	0.36230	0.0:0.9009:0.0:0.0991	.	33	F5H5G0	.	D	33;20	ENSP00000443432:H33D;ENSP00000426447:H20D	.	H	+	1	0	IDO2	39925899	1.000000	0.71417	0.960000	0.40013	0.289000	0.27227	2.139000	0.42149	1.301000	0.44836	0.645000	0.84053	CAC	IDO2	-	pfam_Indolamine_dOase		0.413	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	HGNC	protein_coding	OTTHUMT00000372742.1	C	NM_194294		39806742	+1	no_errors	ENST00000502986	ensembl	human	known	70_37	missense	SNP	0.993	G
IFI44	10561	genome.wustl.edu	37	1	79115876	79115876	+	5'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:79115876G>C	ENST00000370747.4	+	0	81				IFI44_ENST00000545124.1_Intron|IFI44_ENST00000495254.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44						response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						ACTAGATCAAGAAGTATGGCA	0.338																																																	0													70.0	66.0	68.0					1																	79115876		2203	4300	6503	SO:0001623	5_prime_UTR_variant	10561			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.-5G>C	1.37:g.79115876G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZAG3|D3DQ80|Q14496	RNA	SNP	-	NULL	ENST00000370747.4	37	NULL	CCDS688.1	1																																																																																			IFI44	-	-		0.338	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44	HGNC	protein_coding	OTTHUMT00000026825.1	G	NM_006417		79115876	+1	no_errors	ENST00000467790	ensembl	human	known	70_37	rna	SNP	0.592	C
IFI16	3428	genome.wustl.edu	37	1	159002440	159002440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:159002440C>T	ENST00000295809.7	+	7	1543	c.1288C>T	c.(1288-1290)Cag>Tag	p.Q430*	IFI16_ENST00000368131.4_Nonsense_Mutation_p.Q430*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.Q378*|IFI16_ENST00000340979.6_Nonsense_Mutation_p.Q430*|IFI16_ENST00000448393.2_Nonsense_Mutation_p.Q430*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.Q374*|IFI16_ENST00000368132.3_Nonsense_Mutation_p.Q430*			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	430					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCGGACTCCTCAGATGCCACC	0.512																																																	0													150.0	139.0	143.0					1																	159002440		2203	4300	6503	SO:0001587	stop_gained	3428			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1288C>T	1.37:g.159002440C>T	ENSP00000295809:p.Gln430*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Nonsense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.Q430*	ENST00000295809.7	37	c.1288		1	.	.	.	.	.	.	.	.	.	.	C	36	5.852697	0.97030	.	.	ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.	.	.	2.15	1.22	0.21188	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	4.6192	0.12442	0.0:0.8078:0.0:0.1922	.	.	.	.	X	430;430;430;430;378	.	ENSP00000295809:Q430X	Q	+	1	0	IFI16	157269064	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.051000	0.14141	0.447000	0.26695	0.462000	0.41574	CAG	IFI16	-	NULL		0.512	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	C	NM_005531		159002440	+1	no_errors	ENST00000295809	ensembl	human	known	70_37	nonsense	SNP	0.002	T
IFIT1	3434	genome.wustl.edu	37	10	91163267	91163267	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:91163267C>G	ENST00000371804.3	+	2	1402	c.1235C>G	c.(1234-1236)tCa>tGa	p.S412*	IFIT1_ENST00000546318.1_Nonsense_Mutation_p.S381*|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	412					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GAACAGGCATCATTAACAAGG	0.348																																																	0													51.0	53.0	52.0					10																	91163267		2203	4299	6502	SO:0001587	stop_gained	3434			M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.1235C>G	10.37:g.91163267C>G	ENSP00000360869:p.Ser412*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KS50|D3DR31|Q5T7J1|Q96QM5	Nonsense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S412*	ENST00000371804.3	37	c.1235	CCDS31243.1	10	.	.	.	.	.	.	.	.	.	.	C	46	12.193593	0.99645	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	.	.	.	5.47	4.56	0.56223	.	0.228402	0.38058	U	0.001828	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	8.6012	0.33745	0.0:0.7627:0.1528:0.0846	.	.	.	.	X	412;381	.	ENSP00000360869:S412X	S	+	2	0	IFIT1	91153247	0.002000	0.14202	0.022000	0.16811	0.002000	0.02628	1.214000	0.32419	1.399000	0.46721	0.650000	0.86243	TCA	IFIT1	-	NULL		0.348	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT1	HGNC	protein_coding	OTTHUMT00000049302.1	C	NM_001548		91163267	+1	no_errors	ENST00000371804	ensembl	human	known	70_37	nonsense	SNP	0.006	G
IFITM3	10410	genome.wustl.edu	37	11	320663	320663	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:320663C>G	ENST00000399808.4	-	1	387	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.E30Q|RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.E30Q|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.11_ENST00000508004.2_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	51					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACGGAGGTCTCGCTGCGGATG	0.622																																																	0													91.0	96.0	94.0					11																	320663		2049	4167	6216	SO:0001583	missense	10410			X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.151G>C	11.37:g.320663C>G	ENSP00000382707:p.Glu51Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.E51Q	ENST00000399808.4	37	c.151	CCDS41585.1	11	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339671	0.60963	.	.	ENSG00000142089	ENST00000399808;ENST00000270031;ENST00000526811	D;D	0.85556	-2.0;-2.0	4.65	3.69	0.42338	.	0.189170	0.30820	U	0.008806	D	0.88518	0.6458	M	0.86651	2.83	0.09310	N	1	P	0.39376	0.67	P	0.46320	0.512	T	0.82460	-0.0446	10	0.52906	T	0.07	-11.866	10.7295	0.46087	0.0:0.8077:0.1923:0.0	.	51	Q01628	IFM3_HUMAN	Q	51;35;30	ENSP00000382707:E51Q;ENSP00000432108:E30Q	ENSP00000372047:E35Q	E	-	1	0	IFITM3	310663	0.037000	0.19845	0.014000	0.15608	0.039000	0.13416	1.383000	0.34385	2.409000	0.81822	0.467000	0.42956	GAG	IFITM3	-	pfam_Interferon-induced_TM_protein		0.622	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFITM3	HGNC	protein_coding	OTTHUMT00000384765.1	C	NM_021034		320663	-1	no_errors	ENST00000399808	ensembl	human	known	70_37	missense	SNP	0.003	G
LMNTD1	160492	genome.wustl.edu	37	12	25699333	25699333	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:25699333C>G	ENST00000282881.6	-	3	552	c.403G>C	c.(403-405)Gaa>Caa	p.E135Q	IFLTD1_ENST00000445693.1_Missense_Mutation_p.E72Q|IFLTD1_ENST00000539744.1_Missense_Mutation_p.E38Q|IFLTD1_ENST00000458174.2_Missense_Mutation_p.E156Q|IFLTD1_ENST00000413632.2_Missense_Mutation_p.E156Q	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		135					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					CCAACTTCTTCAAGAATCATA	0.333																																																	0													90.0	90.0	90.0					12																	25699333		2203	4298	6501	SO:0001583	missense	160492																														ENST00000282881.6:c.403G>C	12.37:g.25699333C>G	ENSP00000282881:p.Glu135Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	pfam_Lamin_tail_dom	p.E156Q	ENST00000282881.6	37	c.466	CCDS8704.1	12	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295213	0.23564	.	.	ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000538178;ENST00000540106	T;T;T;T;T	0.18174	2.47;2.6;2.44;2.6;2.23	4.75	3.86	0.44501	.	.	.	.	.	T	0.15739	0.0379	L	0.29908	0.895	0.24634	N	0.993603	P;P;P;P	0.41673	0.454;0.759;0.713;0.647	B;B;B;B	0.43575	0.237;0.28;0.424;0.203	T	0.08848	-1.0702	9	0.62326	D	0.03	-15.0884	9.1184	0.36773	0.0:0.8997:0.0:0.1003	.	72;156;156;135	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;.;ILFT1_HUMAN	Q	135;38;156;72;156;110;110	ENSP00000282881:E135Q;ENSP00000443132:E38Q;ENSP00000407353:E156Q;ENSP00000407043:E72Q;ENSP00000393150:E156Q	ENSP00000282881:E135Q	E	-	1	0	IFLTD1	25590600	0.998000	0.40836	0.998000	0.56505	0.178000	0.23041	1.800000	0.38833	1.353000	0.45828	0.655000	0.94253	GAA	IFLTD1	-	NULL		0.333	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	IFLTD1	HGNC	protein_coding	OTTHUMT00000402279.1	C			25699333	-1	no_errors	ENST00000458174	ensembl	human	known	70_37	missense	SNP	0.993	G
IFT140	9742	genome.wustl.edu	37	16	1568328	1568328	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:1568328G>C	ENST00000426508.2	-	30	4434	c.4071C>G	c.(4069-4071)atC>atG	p.I1357M	IFT140_ENST00000361339.5_Missense_Mutation_p.I551M	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1357					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CACACTGCTTGATGGACTCCT	0.607																																																	0													104.0	75.0	84.0					16																	1568328		2199	4300	6499	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.4071C>G	16.37:g.1568328G>C	ENSP00000406012:p.Ile1357Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I1357M	ENST00000426508.2	37	c.4071	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	G	3.640	-0.073664	0.07184	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.59638	1.42;0.25	4.68	-0.642	0.11486	.	0.236251	0.34046	N	0.004302	T	0.27454	0.0674	N	0.03608	-0.345	0.09310	N	1	B;B	0.26935	0.015;0.164	B;B	0.29862	0.035;0.108	T	0.22277	-1.0221	10	0.23891	T	0.37	.	6.928	0.24426	0.0776:0.4338:0.3787:0.1099	.	1357;1044	Q96RY7;B4DR58	IF140_HUMAN;.	M	1357;551;1357	ENSP00000354895:I551M;ENSP00000406012:I1357M	ENSP00000354895:I551M	I	-	3	3	IFT140	1508329	0.143000	0.22626	0.008000	0.14137	0.668000	0.39293	0.648000	0.24828	0.031000	0.15407	0.555000	0.69702	ATC	IFT140	-	NULL		0.607	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	G	NM_014714		1568328	-1	no_errors	ENST00000426508	ensembl	human	known	70_37	missense	SNP	0.000	C
IFT140	9742	genome.wustl.edu	37	16	1614148	1614148	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:1614148C>G	ENST00000426508.2	-	17	2280	c.1917G>C	c.(1915-1917)gtG>gtC	p.V639V	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	639					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GTCCCTCATCCACAAAGAGGT	0.577																																																	0													43.0	47.0	45.0					16																	1614148		2199	4300	6499	SO:0001819	synonymous_variant	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1917G>C	16.37:g.1614148C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V639	ENST00000426508.2	37	c.1917	CCDS10439.1	16																																																																																			IFT140	-	NULL		0.577	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	C	NM_014714		1614148	-1	no_errors	ENST00000426508	ensembl	human	known	70_37	silent	SNP	0.000	G
IFT140	9742	genome.wustl.edu	37	16	1642482	1642482	+	Silent	SNP	G	G	C	rs201338414		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:1642482G>C	ENST00000426508.2	-	5	840	c.477C>G	c.(475-477)ctC>ctG	p.L159L	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	159					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAGGAGGGGGGAGCCGGAAGA	0.617																																																	0													98.0	89.0	92.0					16																	1642482		2199	4300	6499	SO:0001819	synonymous_variant	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.477C>G	16.37:g.1642482G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L159	ENST00000426508.2	37	c.477	CCDS10439.1	16																																																																																			IFT140	-	superfamily_WD40_repeat_dom		0.617	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	G	NM_014714		1642482	-1	no_errors	ENST00000426508	ensembl	human	known	70_37	silent	SNP	0.005	C
IFT74	80173	genome.wustl.edu	37	9	27062636	27062636	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:27062636G>C	ENST00000443698.1	+	20	1876	c.1705G>C	c.(1705-1707)Gag>Cag	p.E569Q	IFT74_ENST00000433700.1_Missense_Mutation_p.E569Q|IFT74_ENST00000380062.5_Missense_Mutation_p.E569Q	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	569					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		CAAGAGTCAAGAGAGTGATTA	0.373																																																	0													98.0	91.0	93.0					9																	27062636		1864	4104	5968	SO:0001583	missense	80173			AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"""Intraflagellar transport homologs"""	21424	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 1"""	608040	"""coiled-coil domain containing 2"", ""intraflagellar transport 74 homolog (Chlamydomonas)"""	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.1705G>C	9.37:g.27062636G>C	ENSP00000404122:p.Glu569Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	NULL	p.E569Q	ENST00000443698.1	37	c.1705	CCDS43793.1	9	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170771	0.78452	.	.	ENSG00000096872	ENST00000433700;ENST00000443698;ENST00000380062	T;T;T	0.34859	1.34;1.34;1.34	5.93	5.03	0.67393	.	0.049881	0.85682	D	0.000000	T	0.60366	0.2263	M	0.76002	2.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.65417	-0.6173	10	0.72032	D	0.01	-8.6895	14.8535	0.70316	0.0686:0.0:0.9314:0.0	.	569	Q96LB3	IFT74_HUMAN	Q	569	ENSP00000389224:E569Q;ENSP00000404122:E569Q;ENSP00000369402:E569Q	ENSP00000369402:E569Q	E	+	1	0	IFT74	27052636	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.467000	0.80930	1.510000	0.48803	0.563000	0.77884	GAG	IFT74	-	NULL		0.373	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT74	HGNC	protein_coding	OTTHUMT00000055476.2	G	NM_025103		27062636	+1	no_errors	ENST00000380062	ensembl	human	known	70_37	missense	SNP	1.000	C
IGF1R	3480	genome.wustl.edu	37	15	99434640	99434640	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:99434640G>C	ENST00000268035.6	+	3	1338	c.727G>C	c.(727-729)Gac>Cac	p.D243H	RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000558762.1_Missense_Mutation_p.D243H|IGF1R_ENST00000560432.1_3'UTR	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	243					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CAGCGCGCCTGACAACGACAC	0.642																																																	0													61.0	48.0	52.0					15																	99434640		2197	4297	6494	SO:0001583	missense	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.727G>C	15.37:g.99434640G>C	ENSP00000268035:p.Asp243His	Somatic		WXS	Illumina HiSeq	Phase_IV	B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.D243H	ENST00000268035.6	37	c.727	CCDS10378.1	15	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452089	0.43531	.	.	ENSG00000140443	ENST00000268035	D	0.84298	-1.83	5.29	5.29	0.74685	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000010	D	0.82595	0.5071	L	0.60455	1.87	0.54753	D	0.999988	B;B	0.18610	0.029;0.008	B;B	0.16289	0.015;0.006	T	0.79745	-0.1674	10	0.59425	D	0.04	.	13.5973	0.61998	0.0751:0.0:0.9249:0.0	.	243;243	C9J5X1;P08069	.;IGF1R_HUMAN	H	243	ENSP00000268035:D243H	ENSP00000268035:D243H	D	+	1	0	IGF1R	97252163	0.998000	0.40836	0.983000	0.44433	0.894000	0.52154	2.712000	0.47186	2.632000	0.89209	0.561000	0.74099	GAC	IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat		0.642	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	G	NM_000875		99434640	+1	no_errors	ENST00000268035	ensembl	human	known	70_37	missense	SNP	0.991	C
IGF1R	3480	genome.wustl.edu	37	15	99434645	99434645	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:99434645C>A	ENST00000268035.6	+	3	1343	c.732C>A	c.(730-732)aaC>aaA	p.N244K	RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000558762.1_Missense_Mutation_p.N244K|IGF1R_ENST00000560432.1_3'UTR	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	244					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CGCCTGACAACGACACGGCCT	0.642																																																	0													62.0	48.0	53.0					15																	99434645		2197	4297	6494	SO:0001583	missense	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.732C>A	15.37:g.99434645C>A	ENSP00000268035:p.Asn244Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.N244K	ENST00000268035.6	37	c.732	CCDS10378.1	15	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801674	0.70682	.	.	ENSG00000140443	ENST00000268035	D	0.97598	-4.45	5.29	5.29	0.74685	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.096661	0.44097	D	0.000499	D	0.95993	0.8695	M	0.62723	1.935	0.58432	D	0.999999	P;B	0.36412	0.552;0.013	B;B	0.34590	0.186;0.045	D	0.96056	0.9035	10	0.66056	D	0.02	.	19.2885	0.94089	0.0:1.0:0.0:0.0	.	244;244	C9J5X1;P08069	.;IGF1R_HUMAN	K	244	ENSP00000268035:N244K	ENSP00000268035:N244K	N	+	3	2	IGF1R	97252168	0.994000	0.37717	0.998000	0.56505	0.809000	0.45718	0.489000	0.22387	2.632000	0.89209	0.561000	0.74099	AAC	IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat		0.642	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	C	NM_000875		99434645	+1	no_errors	ENST00000268035	ensembl	human	known	70_37	missense	SNP	1.000	A
IGF2BP1	10642	genome.wustl.edu	37	17	47119632	47119632	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:47119632G>A	ENST00000290341.3	+	9	1304	c.970G>A	c.(970-972)Gag>Aag	p.E324K	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E185K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	324	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.|Sufficient for nuclear export.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTACAACCCTGAGAGGACCAT	0.537																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0													125.0	121.0	122.0					17																	47119632		2203	4300	6503	SO:0001583	missense	10642			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.970G>A	17.37:g.47119632G>A	ENSP00000290341:p.Glu324Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JT33	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.E324K	ENST00000290341.3	37	c.970	CCDS11543.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.855174	0.97030	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.51325	0.71;0.71	5.35	5.35	0.76521	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.74129	0.3676	M	0.88031	2.925	0.80722	D	1	P;D	0.60160	0.843;0.987	D;D	0.67382	0.926;0.951	T	0.79388	-0.1824	10	0.87932	D	0	-30.6343	19.0202	0.92910	0.0:0.0:1.0:0.0	.	185;324	C9JT33;Q9NZI8	.;IF2B1_HUMAN	K	324;185	ENSP00000290341:E324K;ENSP00000389135:E185K	ENSP00000290341:E324K	E	+	1	0	IGF2BP1	44474631	1.000000	0.71417	0.963000	0.40424	0.986000	0.74619	9.696000	0.98695	2.648000	0.89879	0.655000	0.94253	GAG	IGF2BP1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.537	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	HGNC	protein_coding	OTTHUMT00000364046.1	G	NM_006546		47119632	+1	no_errors	ENST00000290341	ensembl	human	known	70_37	missense	SNP	1.000	A
IGFN1	91156	genome.wustl.edu	37	1	201180634	201180634	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:201180634G>A	ENST00000335211.4	+	12	6743	c.6613G>A	c.(6613-6615)Gaa>Aaa	p.E2205K	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGGTTCTGAAGAAATGGGGTC	0.507																																																	0													27.0	23.0	25.0					1																	201180634		692	1590	2282	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.6613G>A	1.37:g.201180634G>A	ENSP00000334714:p.Glu2205Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E2205K	ENST00000335211.4	37	c.6613	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	g	7.845	0.722796	0.15439	.	.	ENSG00000163395	ENST00000335211	D	0.88354	-2.37	2.63	-1.27	0.09347	.	.	.	.	.	T	0.69079	0.3071	N	0.08118	0	0.09310	N	0.999998	.	.	.	.	.	.	T	0.57039	-0.7879	6	.	.	.	.	0.3257	0.00310	0.3163:0.1929:0.2953:0.1955	.	.	.	.	K	2205	ENSP00000334714:E2205K	.	E	+	1	0	IGFN1	199447257	0.998000	0.40836	0.000000	0.03702	0.003000	0.03518	0.099000	0.15210	-0.136000	0.11475	-3.189000	0.00055	GAA	IGFN1	-	NULL		0.507	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		G	NM_178275		201180634	+1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.000	A
IGSF11	152404	genome.wustl.edu	37	3	118647442	118647442	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:118647442G>C	ENST00000393775.2	-	3	643	c.338C>G	c.(337-339)tCa>tGa	p.S113*	IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000425327.2_Nonsense_Mutation_p.S112*|IGSF11_ENST00000491903.1_Nonsense_Mutation_p.S113*|IGSF11_ENST00000489689.1_Nonsense_Mutation_p.S113*|IGSF11_ENST00000354673.2_Nonsense_Mutation_p.S112*|IGSF11_ENST00000441144.2_Nonsense_Mutation_p.S112*	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	113	Ig-like V-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCAGTGTCTGATAACTGAGT	0.512																																																	0													121.0	106.0	111.0					3																	118647442		2203	4300	6503	SO:0001587	stop_gained	152404			AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.338C>G	3.37:g.118647442G>C	ENSP00000377370:p.Ser113*	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S113*	ENST00000393775.2	37	c.338	CCDS46891.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.656177	0.96724	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903;ENST00000483401	.	.	.	4.31	3.43	0.39272	.	0.208644	0.42964	D	0.000639	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.0622	0.53568	0.0899:0.0:0.9101:0.0	.	.	.	.	X	112;113;113;112;112;113;54	.	ENSP00000346700:S112X	S	-	2	0	IGSF11	120130132	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	7.298000	0.78815	2.402000	0.81655	0.563000	0.77884	TCA	IGSF11	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.512	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF11	HGNC	protein_coding	OTTHUMT00000355075.2	G			118647442	-1	no_errors	ENST00000393775	ensembl	human	known	70_37	nonsense	SNP	1.000	C
IGSF10	285313	genome.wustl.edu	37	3	151164886	151164886	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:151164886C>G	ENST00000282466.3	-	4	2882	c.2883G>C	c.(2881-2883)gtG>gtC	p.V961V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	961					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGGTTCACTCACTTCTCTTA	0.403																																																	0													175.0	169.0	171.0					3																	151164886		2203	4300	6503	SO:0001819	synonymous_variant	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2883G>C	3.37:g.151164886C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86YJ9|Q8N772|Q8NA84	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V961	ENST00000282466.3	37	c.2883	CCDS3160.1	3																																																																																			IGSF10	-	NULL		0.403	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	C	NM_178822		151164886	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	silent	SNP	0.000	G
IGSF22	283284	genome.wustl.edu	37	11	18731108	18731108	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:18731108C>T	ENST00000513874.1	-	18	2963	c.2824G>A	c.(2824-2826)Gaa>Aaa	p.E942K	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	841										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTTGTGTCTTCAGCCCTCATC	0.547																																																	0													78.0	83.0	81.0					11																	18731108		1967	4144	6111	SO:0001583	missense	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2824G>A	11.37:g.18731108C>T	ENSP00000421191:p.Glu942Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNA0|D6RGV7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E942K	ENST00000513874.1	37	c.2824	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775643	0.31411	.	.	ENSG00000179057	ENST00000513874	T	0.56444	0.46	4.58	3.65	0.41850	.	.	.	.	.	T	0.36026	0.0952	N	0.01751	-0.74	0.21719	N	0.999575	P	0.48350	0.909	P	0.57548	0.823	T	0.25537	-1.0129	9	0.02654	T	1	.	11.9496	0.52948	0.1738:0.8262:0.0:0.0	.	942	D6RGV7	.	K	942	ENSP00000421191:E942K	ENSP00000322422:E841K	E	-	1	0	IGSF22	18687684	0.095000	0.21747	0.973000	0.42090	0.956000	0.61745	2.072000	0.41510	1.120000	0.41904	0.655000	0.94253	GAA	IGSF22	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.547	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	C	NM_173588		18731108	-1	no_errors	ENST00000513874	ensembl	human	known	70_37	missense	SNP	0.991	T
IGSF22	283284	genome.wustl.edu	37	11	18733886	18733886	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:18733886G>A	ENST00000513874.1	-	15	2280	c.2141C>T	c.(2140-2142)tCa>tTa	p.S714L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	713	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ACAACTACCTGAGAGCTCCAG	0.557																																																	0													70.0	64.0	66.0					11																	18733886		692	1591	2283	SO:0001583	missense	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2141C>T	11.37:g.18733886G>A	ENSP00000421191:p.Ser714Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNA0|D6RGV7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S714L	ENST00000513874.1	37	c.2141	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	g	13.85	2.361431	0.41801	.	.	ENSG00000179057	ENST00000513874	T	0.47177	0.85	4.11	0.486	0.16836	.	.	.	.	.	T	0.36580	0.0972	L	0.61218	1.895	0.09310	N	1	B	0.09022	0.002	B	0.17722	0.019	T	0.34254	-0.9836	9	0.12103	T	0.63	.	3.4516	0.07501	0.2626:0.0:0.5497:0.1877	.	714	D6RGV7	.	L	714	ENSP00000421191:S714L	ENSP00000421191:S714L	S	-	2	0	IGSF22	18690462	0.002000	0.14202	0.020000	0.16555	0.991000	0.79684	1.168000	0.31859	-0.072000	0.12864	0.550000	0.68814	TCA	IGSF22	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.557	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	G	NM_173588		18733886	-1	no_errors	ENST00000513874	ensembl	human	known	70_37	missense	SNP	0.018	A
IL12RB1	3594	genome.wustl.edu	37	19	18194269	18194269	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:18194269C>A	ENST00000600835.2	-	3	395	c.97G>T	c.(97-99)Gac>Tac	p.D33Y	IL12RB1_ENST00000322153.7_Missense_Mutation_p.D33Y|IL12RB1_ENST00000593993.2_Missense_Mutation_p.D33Y			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	33					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TATGGCGGGTCCTGAAAACAG	0.562																																																	0													141.0	113.0	123.0					19																	18194269		2203	4300	6503	SO:0001583	missense	3594			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.97G>T	19.37:g.18194269C>A	ENSP00000470788:p.Asp33Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D33Y	ENST00000600835.2	37	c.97	CCDS54232.1	19	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386610	0.61956	.	.	ENSG00000096996	ENST00000430026;ENST00000322153	T;T	0.75938	-0.98;-0.98	2.65	0.391	0.16282	.	0.805765	0.10350	U	0.685249	T	0.74068	0.3668	L	0.36672	1.1	0.23162	N	0.998197	D;D;D	0.69078	0.997;0.983;0.996	D;P;P	0.63192	0.912;0.827;0.819	T	0.60801	-0.7191	10	0.66056	D	0.02	.	4.2983	0.10913	0.0:0.6197:0.0:0.3803	.	33;33;33	P42701-2;P42701-3;P42701	.;.;I12R1_HUMAN	Y	33	ENSP00000403103:D33Y;ENSP00000314425:D33Y	ENSP00000314425:D33Y	D	-	1	0	IL12RB1	18055269	0.787000	0.28750	0.676000	0.29932	0.701000	0.40568	0.432000	0.21461	-0.061000	0.13110	0.306000	0.20318	GAC	IL12RB1	-	NULL		0.562	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB1	HGNC	protein_coding	OTTHUMT00000466525.3	C			18194269	-1	no_errors	ENST00000430026	ensembl	human	known	70_37	missense	SNP	0.755	A
IL11	3589	genome.wustl.edu	37	19	55879861	55879861	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:55879861C>T	ENST00000264563.2	-	3	319	c.257G>A	c.(256-258)gGa>gAa	p.G86E	IL11_ENST00000585513.1_Missense_Mutation_p.G86E|IL11_ENST00000590625.1_Missense_Mutation_p.G7E	NM_000641.3	NP_000632.1	P20809	IL11_HUMAN	interleukin 11	86					B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|fat cell differentiation (GO:0045444)|megakaryocyte differentiation (GO:0030219)|negative regulation of hormone secretion (GO:0046888)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-11 receptor binding (GO:0005142)			large_intestine(1)|skin(1)	2	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CTGTAGAGCTCCCAGTGCCCC	0.637																																																	0													46.0	48.0	47.0					19																	55879861		2203	4300	6503	SO:0001583	missense	3589			X58377	CCDS12923.1, CCDS59423.1	19q13.3-q13.4	2014-01-30			ENSG00000095752	ENSG00000095752		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5966	protein-coding gene	gene with protein product	"""adipogenesis inhibitory factor"", ""oprelvekin"""	147681				1386338	Standard	NM_001267718		Approved	IL-11, AGIF	uc002qks.2	P20809		ENST00000264563.2:c.257G>A	19.37:g.55879861C>T	ENSP00000264563:p.Gly86Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQV5|Q96EB4	Missense_Mutation	SNP	pfam_Interleukin-11,superfamily_4_helix_cytokine-like_core,prints_Interleukin-11_mammalian,prints_Interleukin-11	p.G86E	ENST00000264563.2	37	c.257	CCDS12923.1	19	.	.	.	.	.	.	.	.	.	.	c	13.04	2.118967	0.37436	.	.	ENSG00000095752	ENST00000264563	T	0.47869	0.83	3.87	3.87	0.44632	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.527331	0.18386	N	0.142802	T	0.47801	0.1465	N	0.14661	0.345	0.39725	D	0.97152	D	0.89917	1.0	D	0.77557	0.99	T	0.47661	-0.9100	10	0.42905	T	0.14	-11.1356	9.7712	0.40591	0.0:0.7891:0.2109:0.0	.	86	P20809	IL11_HUMAN	E	86	ENSP00000264563:G86E	ENSP00000264563:G86E	G	-	2	0	IL11	60571673	0.621000	0.27077	0.971000	0.41717	0.094000	0.18550	1.082000	0.30803	2.190000	0.69967	0.644000	0.83932	GGA	IL11	-	pfam_Interleukin-11,superfamily_4_helix_cytokine-like_core,prints_Interleukin-11_mammalian		0.637	IL11-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	IL11	HGNC	protein_coding	OTTHUMT00000453027.1	C	NM_000641		55879861	-1	no_errors	ENST00000264563	ensembl	human	known	70_37	missense	SNP	0.979	T
IL17RC	84818	genome.wustl.edu	37	3	9974953	9974953	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:9974953C>G	ENST00000295981.3	+	19	2270	c.2052C>G	c.(2050-2052)ctC>ctG	p.L684L	IL17RC_ENST00000413608.1_Silent_p.L600L|IL17RC_ENST00000498214.1_3'UTR|CRELD1_ENST00000452070.1_5'Flank|RP11-1020A11.1_ENST00000602411.1_RNA|IL17RC_ENST00000416074.2_Silent_p.L439L|CRELD1_ENST00000397170.3_5'Flank|IL17RC_ENST00000403601.3_Silent_p.L613L|IL17RC_ENST00000383812.4_Silent_p.L598L|CRELD1_ENST00000383811.3_5'Flank|IL17RC_ENST00000455057.1_Silent_p.L581L|CRELD1_ENST00000326434.5_5'Flank	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	684	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCGCCTCGCTCAGCTGCGTGC	0.731																																																	0													15.0	15.0	15.0					3																	9974953		2189	4255	6444	SO:0001819	synonymous_variant	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.2052C>G	3.37:g.9974953C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Silent	SNP	pfam_SEFIR	p.L684	ENST00000295981.3	37	c.2052	CCDS2590.1	3																																																																																			IL17RC	-	pfam_SEFIR		0.731	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL17RC	HGNC	protein_coding	OTTHUMT00000250526.2	C	NM_032732		9974953	+1	no_errors	ENST00000295981	ensembl	human	known	70_37	silent	SNP	1.000	G
IL18R1	8809	genome.wustl.edu	37	2	103003430	103003430	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:103003430G>A	ENST00000409599.1	+	9	1275	c.919G>A	c.(919-921)Gac>Aac	p.D307N	IL18R1_ENST00000233957.1_Missense_Mutation_p.D307N			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	307	Ig-like C2-type 3.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGGAGGCACAGACACCAAAAG	0.373																																																	0													104.0	108.0	107.0					2																	103003430		2203	4300	6503	SO:0001583	missense	8809			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.919G>A	2.37:g.103003430G>A	ENSP00000387211:p.Asp307Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9Y5|Q52LC9	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.D307N	ENST00000409599.1	37	c.919	CCDS2060.1	2	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011173	0.54361	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.14516	2.5;2.5;2.5	4.66	3.75	0.43078	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.646348	0.15066	N	0.282512	T	0.15219	0.0367	M	0.68952	2.095	0.24037	N	0.996094	P;P	0.48764	0.915;0.915	B;B	0.40864	0.342;0.342	T	0.12553	-1.0543	10	0.19590	T	0.45	.	10.5767	0.45231	0.0:0.1956:0.8044:0.0	.	307;307	B7ZKV7;Q13478	.;IL18R_HUMAN	N	307	ENSP00000386663:D307N;ENSP00000387211:D307N;ENSP00000233957:D307N	ENSP00000233957:D307N	D	+	1	0	IL18R1	102369862	0.094000	0.21725	0.007000	0.13788	0.603000	0.37013	1.922000	0.40045	1.267000	0.44247	0.561000	0.74099	GAC	IL18R1	-	smart_Ig_sub,pfscan_Ig-like		0.373	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL18R1	HGNC	protein_coding	OTTHUMT00000253294.2	G	NM_003855		103003430	+1	no_errors	ENST00000233957	ensembl	human	known	70_37	missense	SNP	0.012	A
IL1RAP	3556	genome.wustl.edu	37	3	190322170	190322170	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:190322170C>G	ENST00000412504.2	+	3	570	c.318C>G	c.(316-318)ctC>ctG	p.L106L	IL1RAP_ENST00000443369.2_Silent_p.L106L|IL1RAP_ENST00000447382.1_Silent_p.L106L|IL1RAP_ENST00000422940.1_Silent_p.L106L|IL1RAP_ENST00000072516.3_Silent_p.L106L|IL1RAP_ENST00000439062.1_Silent_p.L106L|IL1RAP_ENST00000317757.3_Silent_p.L106L|IL1RAP_ENST00000422485.1_Silent_p.L106L|IL1RAP_ENST00000434491.1_Intron			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	106	Ig-like C2-type 1.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CCACTCTCCTCAATGACACTG	0.517																																																	0													69.0	63.0	65.0					3																	190322170		2203	4300	6503	SO:0001819	synonymous_variant	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.318C>G	3.37:g.190322170C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B1NLD0|D3DNW0|O14915|Q86WJ7	Silent	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.L106	ENST00000412504.2	37	c.318	CCDS3298.1	3																																																																																			IL1RAP	-	smart_Ig_sub		0.517	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343497.1	C			190322170	+1	no_errors	ENST00000443369	ensembl	human	known	70_37	silent	SNP	1.000	G
IL1RAP	3556	genome.wustl.edu	37	3	190374011	190374011	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:190374011C>G	ENST00000317757.3	+	12	1885	c.1679C>G	c.(1678-1680)tCt>tGt	p.S560C	IL1RAP_ENST00000443369.2_Missense_Mutation_p.S560C|RP11-268E23.2_ENST00000609508.1_lincRNA	NM_001167931.1	NP_001161403.1	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	562					immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GAGAGCTGCTCTTCCCAGTCT	0.512																																																	0													34.0	34.0	34.0					3																	190374011		692	1591	2283	SO:0001583	missense	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000317757.3:c.1679C>G	3.37:g.190374011C>G	ENSP00000314807:p.Ser560Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.S560C	ENST00000317757.3	37	c.1679	CCDS54696.1	3	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738777	0.69304	.	.	ENSG00000196083	ENST00000443369;ENST00000317757	T;T	0.01665	4.7;4.7	5.51	5.51	0.81932	.	.	.	.	.	T	0.07818	0.0196	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.36792	-0.9733	9	0.38643	T	0.18	.	18.4152	0.90567	0.0:1.0:0.0:0.0	.	560	Q9NPH3-5	.	C	560	ENSP00000408893:S560C;ENSP00000314807:S560C	ENSP00000314807:S560C	S	+	2	0	IL1RAP	191856705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.175000	0.71949	2.577000	0.86979	0.561000	0.74099	TCT	IL1RAP	-	NULL		0.512	IL1RAP-006	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343502.1	C			190374011	+1	no_errors	ENST00000443369	ensembl	human	known	70_37	missense	SNP	1.000	G
IL21R	50615	genome.wustl.edu	37	16	27457337	27457337	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:27457337G>C	ENST00000337929.3	+	8	1268	c.795G>C	c.(793-795)aaG>aaC	p.K265N	IL21R_ENST00000395755.1_Missense_Mutation_p.K265N|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000564089.1_Missense_Mutation_p.K265N|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.K265N	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	265					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGCTATGGAAGAAGATATGGG	0.622			T	BCL6	NHL																																			Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0													61.0	55.0	57.0					16																	27457337		2197	4300	6497	SO:0001583	missense	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.795G>C	16.37:g.27457337G>C	ENSP00000338010:p.Lys265Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.K265N	ENST00000337929.3	37	c.795	CCDS10630.1	16	.	.	.	.	.	.	.	.	.	.	G	12.57	1.979037	0.34942	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.43688	0.94;0.94;0.94	4.24	0.944	0.19537	.	0.729680	0.12324	N	0.478984	T	0.39886	0.1095	M	0.73962	2.25	0.38063	D	0.936137	P	0.46512	0.879	B	0.41571	0.36	T	0.35425	-0.9789	10	0.30854	T	0.27	-8.8242	6.7813	0.23648	0.3273:0.0:0.6727:0.0	.	265	Q9HBE5	IL21R_HUMAN	N	265	ENSP00000338010:K265N;ENSP00000379104:K265N;ENSP00000379103:K265N	ENSP00000338010:K265N	K	+	3	2	IL21R	27364838	0.999000	0.42202	0.068000	0.19968	0.162000	0.22319	0.296000	0.19083	-0.076000	0.12775	0.561000	0.74099	AAG	IL21R	-	NULL		0.622	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL21R	HGNC	protein_coding	OTTHUMT00000254578.2	G	NM_181078		27457337	+1	no_errors	ENST00000337929	ensembl	human	known	70_37	missense	SNP	0.992	C
IL9R	3581	genome.wustl.edu	37	X	155232553	155232553	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:155232553C>G	ENST00000244174.5	+	2	207				IL9R_ENST00000369423.2_Nonsense_Mutation_p.S51*|IL9R_ENST00000424344.3_5'UTR|IL9R_ENST00000540897.1_Nonsense_Mutation_p.S41*	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor						cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACAGGGCCCTCAGCCCAGTCC	0.627																																																	0													111.0	116.0	114.0					X																	155232553		2203	4296	6499	SO:0001627	intron_variant	3581			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.29-18C>G	X.37:g.155232553C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Nonsense_Mutation	SNP	superfamily_Fibronectin_type3	p.S51*	ENST00000244174.5	37	c.152	CCDS14771.4	X	.	.	.	.	.	.	.	.	.	.	c	16.31	3.086722	0.55861	.	.	ENSG00000124334	ENST00000369423;ENST00000540897	.	.	.	1.29	0.176	0.15049	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	3.1159	0.06375	0.0:0.6067:0.0:0.3933	.	.	.	.	X	51;41	.	ENSP00000358431:S51X	S	+	2	0	IL9R	154885747	0.083000	0.21467	0.761000	0.31378	0.801000	0.45260	0.540000	0.23191	-0.005000	0.14395	0.287000	0.19450	TCA	IL9R	-	NULL		0.627	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	HGNC	protein_coding	OTTHUMT00000058981.1	C	NM_002186		155232553	+1	no_errors	ENST00000369423	ensembl	human	known	70_37	nonsense	SNP	0.753	G
ILDR1	286676	genome.wustl.edu	37	3	121741028	121741028	+	5'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:121741028C>T	ENST00000344209.5	-	0	23				ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_5'Flank|ILDR1_ENST00000273691.3_5'UTR	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1						positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		AGGAACCCCTCGGGTTTCCCC	0.716																																																	0																																										SO:0001623	5_prime_UTR_variant	286676			BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.-104G>A	3.37:g.121741028C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZP61|Q7Z578	RNA	SNP	-	NULL	ENST00000344209.5	37	NULL	CCDS56271.1	3																																																																																			ILDR1	-	-		0.716	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ILDR1	HGNC	protein_coding	OTTHUMT00000355666.1	C	NM_175924		121741028	-1	no_errors	ENST00000460554	ensembl	human	known	70_37	rna	SNP	0.000	T
IMMP1L	196294	genome.wustl.edu	37	11	31482222	31482222	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:31482222C>T	ENST00000278200.1	-	4	340	c.145G>A	c.(145-147)Gat>Aat	p.D49N	IMMP1L_ENST00000526776.1_Intron|IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000528161.1_Intron|IMMP1L_ENST00000532287.1_Missense_Mutation_p.D49N|IMMP1L_ENST00000534812.1_Intron	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	49					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	serine-type peptidase activity (GO:0008236)			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					AAGACAATATCTGAATTTTGA	0.289																																																	0													75.0	78.0	77.0					11																	31482222		2202	4294	6496	SO:0001583	missense	196294				CCDS7874.1	11p13	2014-07-30			ENSG00000148950	ENSG00000148950			26317	protein-coding gene	gene with protein product		612323					Standard	NM_144981		Approved	FLJ25059	uc001msy.1	Q96LU5	OTTHUMG00000166226	ENST00000278200.1:c.145G>A	11.37:g.31482222C>T	ENSP00000278200:p.Asp49Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQZ7|Q96SH9	Missense_Mutation	SNP	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1	p.D49N	ENST00000278200.1	37	c.145	CCDS7874.1	11	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020634	0.75275	.	.	ENSG00000148950	ENST00000532287;ENST00000278200;ENST00000529749;ENST00000530023	.	.	.	5.58	5.58	0.84498	Peptidase S24/S26A/S26B/S26C (1);Peptidase S24/S26A/S26B/S26C, beta-ribbon domain (1);Peptidase S24/S26A/S26B (1);	0.000000	0.85682	D	0.000000	T	0.76428	0.3986	M	0.70842	2.15	0.80722	D	1	P;P	0.50617	0.933;0.937	P;P	0.57371	0.741;0.819	T	0.75578	-0.3269	9	0.48119	T	0.1	-17.9944	19.922	0.97089	0.0:1.0:0.0:0.0	.	49;49	E9PIG6;Q96LU5	.;IMP1L_HUMAN	N	49	.	ENSP00000278200:D49N	D	-	1	0	IMMP1L	31438798	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.130000	0.64745	2.780000	0.95670	0.655000	0.94253	GAT	IMMP1L	-	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,tigrfam_Pept_S26A_signal_pept_1		0.289	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMMP1L	HGNC	protein_coding	OTTHUMT00000388496.1	C	NM_144981		31482222	-1	no_errors	ENST00000278200	ensembl	human	known	70_37	missense	SNP	1.000	T
IMPG1	3617	genome.wustl.edu	37	6	76631854	76631854	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:76631854C>G	ENST00000369950.3	-	17	2535	c.2346G>C	c.(2344-2346)ctG>ctC	p.L782L	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ATTCTACGGTCAGTAATTCAG	0.313																																					Pancreas(37;839 1141 2599 26037)												0													80.0	74.0	76.0					6																	76631854		2193	4295	6488	SO:0001819	synonymous_variant	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.2346G>C	6.37:g.76631854C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.L782	ENST00000369950.3	37	c.2346	CCDS4985.1	6																																																																																			IMPG1	-	NULL		0.313	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1	C	NM_001563		76631854	-1	no_errors	ENST00000369950	ensembl	human	known	70_37	silent	SNP	0.000	G
INF2	64423	genome.wustl.edu	37	14	105179173	105179173	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:105179173C>G	ENST00000392634.4	+	18	2731	c.2619C>G	c.(2617-2619)atC>atG	p.I873M	INF2_ENST00000330634.7_Missense_Mutation_p.I873M	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	873	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGGCCAGCATCTCGGCCTTCC	0.687																																																	0													21.0	24.0	23.0					14																	105179173		1999	4163	6162	SO:0001583	missense	64423			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2619C>G	14.37:g.105179173C>G	ENSP00000376410:p.Ile873Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom	p.I873M	ENST00000392634.4	37	c.2619	CCDS9989.2	14	.	.	.	.	.	.	.	.	.	.	C	9.693	1.152451	0.21371	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.16897	2.31;2.31	5.06	2.11	0.27256	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.747198	0.12886	N	0.431035	T	0.12689	0.0308	L	0.29908	0.895	0.80722	D	1	P;P	0.43788	0.782;0.817	B;P	0.45998	0.367;0.5	T	0.30387	-0.9980	10	0.32370	T	0.25	.	1.0812	0.01643	0.1435:0.3125:0.2807:0.2633	.	873;873	Q27J81-2;Q27J81	.;INF2_HUMAN	M	873	ENSP00000376406:I873M;ENSP00000376410:I873M	ENSP00000252527:I341M	I	+	3	3	INF2	104250218	0.000000	0.05858	0.016000	0.15963	0.234000	0.25298	-0.668000	0.05268	0.120000	0.18254	0.561000	0.74099	ATC	INF2	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.687	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4	C	NM_022489		105179173	+1	no_errors	ENST00000392634	ensembl	human	known	70_37	missense	SNP	0.129	G
INPP5B	3633	genome.wustl.edu	37	1	38409491	38409491	+	Missense_Mutation	SNP	G	G	C	rs200033881		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:38409491G>C	ENST00000373026.1	-	3	227	c.227C>G	c.(226-228)tCg>tGg	p.S76W	INPP5B_ENST00000373023.2_Missense_Mutation_p.S76W|INPP5B_ENST00000373021.1_Missense_Mutation_p.S76W|INPP5B_ENST00000373024.3_Missense_Mutation_p.S76W			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	76	PH.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)	p.S113L(1)|p.S76L(1)		breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAAATCCCGCGAGACTGGCAC	0.577																																																	2	Substitution - Missense(2)	large_intestine(2)											91.0	90.0	90.0					1																	38409491		1948	4146	6094	SO:0001583	missense	3633			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.227C>G	1.37:g.38409491G>C	ENSP00000362117:p.Ser76Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S76W	ENST00000373026.1	37	c.227		1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747966	0.69533	.	.	ENSG00000204084	ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000373021	D;D;D;T	0.93076	-3.16;-3.16;-3.15;0.61	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000018	D	0.95781	0.8627	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.95;0.999;0.974	D	0.95953	0.8956	10	0.87932	D	0	.	14.5153	0.67816	0.0:0.0:1.0:0.0	.	76;76;76	P32019;B1ARF3;P32019-2	I5P2_HUMAN;.;.	W	76	ENSP00000362114:S76W;ENSP00000362117:S76W;ENSP00000362115:S76W;ENSP00000362112:S76W	ENSP00000362112:S76W	S	-	2	0	INPP5B	38182078	1.000000	0.71417	0.529000	0.27951	0.750000	0.42670	5.904000	0.69886	2.556000	0.86216	0.462000	0.41574	TCG	INPP5B	-	NULL		0.577	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	HGNC	protein_coding	OTTHUMT00000012968.1	G	NM_005540		38409491	-1	no_errors	ENST00000373023	ensembl	human	known	70_37	missense	SNP	0.945	C
INPP5K	51763	genome.wustl.edu	37	17	1416750	1416750	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:1416750G>C	ENST00000421807.2	-	3	646	c.258C>G	c.(256-258)atC>atG	p.I86M	INPP5K_ENST00000397335.3_Intron|INPP5K_ENST00000542125.1_Missense_Mutation_p.I86M|INPP5K_ENST00000320345.6_Missense_Mutation_p.I10M|INPP5K_ENST00000406424.4_Missense_Mutation_p.I10M	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	86	Catalytic. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						AAGTTACCTTGATGAAGCTCA	0.483																																																	0													182.0	158.0	166.0					17																	1416750		2203	4300	6503	SO:0001583	missense	51763				CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"""skeletal muscle and kidney enriched inositol phosphatase"""	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.258C>G	17.37:g.1416750G>C	ENSP00000413937:p.Ile86Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.I86M	ENST00000421807.2	37	c.258	CCDS11004.1	17	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399849	0.42512	.	.	ENSG00000132376	ENST00000421807;ENST00000406424;ENST00000350761;ENST00000320345;ENST00000542125;ENST00000445774	D;D;T	0.95377	-3.69;-3.69;0.86	5.72	2.49	0.30216	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.667674	0.15115	N	0.279735	D	0.95487	0.8534	M	0.64997	1.995	0.80722	D	1	B;P	0.44659	0.4;0.84	B;P	0.54590	0.049;0.756	D	0.93587	0.6918	10	0.72032	D	0.01	-5.1191	6.5924	0.22654	0.0716:0.1294:0.6648:0.1342	.	86;86	F5GXZ0;Q9BT40	.;INP5K_HUMAN	M	10;10;86;10;86;10	ENSP00000385177:I10M;ENSP00000318476:I10M;ENSP00000440147:I86M	ENSP00000318476:I10M	I	-	3	3	INPP5K	1363500	1.000000	0.71417	0.968000	0.41197	0.290000	0.27261	0.792000	0.26929	0.748000	0.32831	0.462000	0.41574	ATC	INPP5K	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.483	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5K	HGNC	protein_coding	OTTHUMT00000319381.4	G			1416750	-1	no_errors	ENST00000421807	ensembl	human	known	70_37	missense	SNP	0.997	C
INSIG2	51141	genome.wustl.edu	37	2	118865890	118865890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:118865890C>T	ENST00000245787.4	+	6	876	c.670C>T	c.(670-672)Cag>Tag	p.Q224*	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	224					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AAAATCTCATCAGGAATGAAG	0.303																																																	0													79.0	82.0	81.0					2																	118865890		2203	4298	6501	SO:0001587	stop_gained	51141			AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.670C>T	2.37:g.118865890C>T	ENSP00000245787:p.Gln224*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5W8|Q8TBI8	Nonsense_Mutation	SNP	pfam_INSIG_fam	p.Q224*	ENST00000245787.4	37	c.670	CCDS2122.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.153741	0.94645	.	.	ENSG00000125629	ENST00000245787	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.38993	D	0.959183	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	14.2906	0.66275	0.0:0.8073:0.1926:0.0	.	.	.	.	X	224	.	ENSP00000245787:Q224X	Q	+	1	0	INSIG2	118582360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.976000	0.56867	2.591000	0.87537	0.655000	0.94253	CAG	INSIG2	-	NULL		0.303	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG2	HGNC	protein_coding	OTTHUMT00000129624.1	C	NM_016133		118865890	+1	no_errors	ENST00000245787	ensembl	human	known	70_37	nonsense	SNP	1.000	T
INSR	3643	genome.wustl.edu	37	19	7132175	7132175	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:7132175C>T	ENST00000302850.5	-	14	2978	c.2836G>A	c.(2836-2838)Gac>Aac	p.D946N	INSR_ENST00000341500.5_Missense_Mutation_p.D934N	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	946	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TTACAATAGTCTGTCACGTAG	0.602																																																	0													86.0	73.0	77.0					19																	7132175		2203	4300	6503	SO:0001583	missense	3643			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2836G>A	19.37:g.7132175C>T	ENSP00000303830:p.Asp946Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D946N	ENST00000302850.5	37	c.2836	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651269	0.29336	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.75477	-0.94;-0.94	6.07	3.98	0.46160	Fibronectin, type III (2);	0.308557	0.22349	N	0.061225	T	0.65719	0.2718	L	0.47716	1.5	0.58432	D	0.999997	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.58853	-0.7563	10	0.30854	T	0.27	.	10.8087	0.46533	0.0:0.8478:0.0:0.1522	.	934;946	P06213-2;P06213	.;INSR_HUMAN	N	946;934	ENSP00000303830:D946N;ENSP00000342838:D934N	ENSP00000303830:D946N	D	-	1	0	INSR	7083175	0.997000	0.39634	0.704000	0.30370	0.076000	0.17211	3.484000	0.53201	0.907000	0.36646	0.655000	0.94253	GAC	INSR	-	superfamily_Fibronectin_type3,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3		0.602	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	C			7132175	-1	no_errors	ENST00000302850	ensembl	human	known	70_37	missense	SNP	0.995	T
INSRR	3645	genome.wustl.edu	37	1	156816359	156816359	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:156816359G>A	ENST00000368195.3	-	8	2158	c.1762C>T	c.(1762-1764)Cat>Tat	p.H588Y	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	588	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTCCTTGATGAGGGCTGTCC	0.597																																																	0													128.0	92.0	105.0					1																	156816359		2203	4300	6503	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1762C>T	1.37:g.156816359G>A	ENSP00000357178:p.His588Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O60724|Q5VZS3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H588Y	ENST00000368195.3	37	c.1762	CCDS1160.1	1	.	.	.	.	.	.	.	.	.	.	G	4.837	0.155562	0.09236	.	.	ENSG00000027644	ENST00000368195	T	0.67865	-0.29	5.35	5.35	0.76521	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.49916	D	0.000121	T	0.16171	0.0389	.	.	.	0.28382	N	0.919487	P	0.47484	0.896	B	0.32393	0.145	T	0.35847	-0.9772	9	0.02654	T	1	.	11.4685	0.50254	0.0:0.0:0.8207:0.1792	.	588	P14616	INSRR_HUMAN	Y	588	ENSP00000357178:H588Y	ENSP00000357178:H588Y	H	-	1	0	INSRR	155082983	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.980000	0.40618	2.781000	0.95711	0.655000	0.94253	CAT	INSRR	-	superfamily_Fibronectin_type3,pirsf_Tyr_kinase_insulin-like_rcpt		0.597	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	G	NM_014215		156816359	-1	no_errors	ENST00000368195	ensembl	human	known	70_37	missense	SNP	0.858	A
INTS1	26173	genome.wustl.edu	37	7	1515923	1515923	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:1515923C>T	ENST00000404767.3	-	38	5405	c.5320G>A	c.(5320-5322)Gag>Aag	p.E1774K	INTS1_ENST00000389470.4_Missense_Mutation_p.E1978K	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1774					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTGACACTCTCATCGTCCCCA	0.697																																																	0													11.0	13.0	13.0					7																	1515923		2140	4243	6383	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.5320G>A	7.37:g.1515923C>T	ENSP00000385722:p.Glu1774Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.E1978K	ENST00000404767.3	37	c.5932	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	C	8.784	0.929032	0.18131	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.45276	0.93;0.9	5.12	4.24	0.50183	.	0.205916	0.49916	N	0.000130	T	0.30916	0.0780	L	0.33137	0.985	0.38777	D	0.954673	B	0.13594	0.008	B	0.12837	0.008	T	0.11842	-1.0571	10	0.16896	T	0.51	.	13.1209	0.59325	0.0:0.9222:0.0:0.0778	.	1774	Q8N201	INT1_HUMAN	K	1774;1978	ENSP00000385722:E1774K;ENSP00000374121:E1978K	ENSP00000374121:E1978K	E	-	1	0	INTS1	1482449	0.986000	0.35501	0.002000	0.10522	0.012000	0.07955	2.963000	0.49184	1.155000	0.42497	0.561000	0.74099	GAG	INTS1	-	NULL		0.697	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	C			1515923	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	missense	SNP	0.771	T
INTS2	57508	genome.wustl.edu	37	17	59958458	59958458	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:59958458C>T	ENST00000444766.3	-	17	2263	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K	INTS2_ENST00000251334.6_Missense_Mutation_p.E722K	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	730					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ATTTCTTCTTCACAAATCCAG	0.388																																																	0													112.0	105.0	108.0					17																	59958458		1903	4126	6029	SO:0001583	missense	57508			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.2188G>A	17.37:g.59958458C>T	ENSP00000414237:p.Glu730Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULD3	Missense_Mutation	SNP	NULL	p.E730K	ENST00000444766.3	37	c.2188	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587579	0.86851	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.46819	0.86	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	L	0.55481	1.735	0.80722	D	1	D	0.56035	0.974	D	0.70487	0.969	T	0.59799	-0.7386	9	.	.	.	-15.7	19.3434	0.94355	0.0:1.0:0.0:0.0	.	730	Q9H0H0	INT2_HUMAN	K	730;729	ENSP00000414237:E730K	.	E	-	1	0	INTS2	57313240	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.124000	0.77185	2.812000	0.96745	0.557000	0.71058	GAA	INTS2	-	NULL		0.388	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	C	NM_020748		59958458	-1	no_errors	ENST00000444766	ensembl	human	known	70_37	missense	SNP	1.000	T
INTS3	65123	genome.wustl.edu	37	1	153701255	153701255	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:153701255G>C	ENST00000318967.2	+	1	713	c.145G>C	c.(145-147)Gag>Cag	p.E49Q	INTS3_ENST00000435409.2_Missense_Mutation_p.E49Q|INTS3_ENST00000456435.1_5'UTR|Y_RNA_ENST00000362695.1_RNA	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	49					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGATGAGTTAGAGGAGGTAGG	0.632																																																	0													57.0	67.0	63.0					1																	153701255		2200	4287	6487	SO:0001583	missense	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.145G>C	1.37:g.153701255G>C	ENSP00000318641:p.Glu49Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	pfam_Int_cplx_su3	p.E49Q	ENST00000318967.2	37	c.145	CCDS1052.1	1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.953147	0.53293	.	.	ENSG00000143624	ENST00000318967;ENST00000435409	.	.	.	5.07	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	M	0.66297	2.02	0.80722	D	1	B	0.23891	0.093	B	0.28784	0.094	T	0.48681	-0.9014	9	0.62326	D	0.03	.	7.3534	0.26704	0.1958:0.0:0.8042:0.0	.	49	Q68E01-2	.	Q	49	.	ENSP00000318641:E49Q	E	+	1	0	INTS3	151967879	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.550000	0.60733	0.720000	0.32209	0.455000	0.32223	GAG	INTS3	-	NULL		0.632	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	G	NM_023015		153701255	+1	no_errors	ENST00000318967	ensembl	human	known	70_37	missense	SNP	1.000	C
INVS	27130	genome.wustl.edu	37	9	103015233	103015233	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:103015233C>G	ENST00000262457.2	+	10	1464	c.1279C>G	c.(1279-1281)Cta>Gta	p.L427V	INVS_ENST00000262456.2_Missense_Mutation_p.L427V|INVS_ENST00000541287.1_Missense_Mutation_p.L331V	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	427					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				ACATTCTCTTCTACATTGGGC	0.368																																																	0													91.0	87.0	89.0					9																	103015233		2203	4300	6503	SO:0001583	missense	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.1279C>G	9.37:g.103015233C>G	ENSP00000262457:p.Leu427Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.L427V	ENST00000262457.2	37	c.1279	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544371	0.65198	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	D;D;D	0.81739	-1.53;-1.53;-1.53	5.71	2.9	0.33743	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.88738	0.6518	M	0.88640	2.97	0.58432	D	0.999994	D;P;P	0.54772	0.968;0.95;0.702	P;P;P	0.61874	0.881;0.895;0.646	D	0.88101	0.2819	10	0.87932	D	0	.	9.8982	0.41331	0.0:0.7269:0.0:0.2731	.	331;427;427	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	V	427;331;427	ENSP00000262457:L427V;ENSP00000444454:L331V;ENSP00000262456:L427V	ENSP00000262456:L427V	L	+	1	2	INVS	102055054	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	3.154000	0.50693	0.356000	0.24157	-0.253000	0.11424	CTA	INVS	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.368	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1	C	NM_014425		103015233	+1	no_errors	ENST00000262457	ensembl	human	known	70_37	missense	SNP	1.000	G
INVS	27130	genome.wustl.edu	37	9	103054935	103054935	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:103054935G>A	ENST00000262457.2	+	14	2581	c.2396G>A	c.(2395-2397)aGa>aAa	p.R799K	INVS_ENST00000262456.2_Intron|INVS_ENST00000541287.1_Missense_Mutation_p.R703K	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	799					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CAAGAGCTCAGAGGAGGAAGG	0.632																																																	0													57.0	58.0	57.0					9																	103054935		2203	4300	6503	SO:0001583	missense	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.2396G>A	9.37:g.103054935G>A	ENSP00000262457:p.Arg799Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.R799K	ENST00000262457.2	37	c.2396	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274565	0.23307	.	.	ENSG00000119509	ENST00000262457;ENST00000541287	T;T	0.38560	1.13;1.13	5.65	-0.91	0.10511	.	0.447134	0.26289	N	0.025227	T	0.19248	0.0462	N	0.17082	0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.32824	-0.9892	10	0.02654	T	1	.	10.4738	0.44652	0.3287:0.0:0.6713:0.0	.	703;799	F5GZH2;Q9Y283	.;INVS_HUMAN	K	799;703	ENSP00000262457:R799K;ENSP00000444454:R703K	ENSP00000262457:R799K	R	+	2	0	INVS	102094756	0.995000	0.38212	0.867000	0.34043	0.994000	0.84299	0.408000	0.21065	-0.309000	0.08779	-0.269000	0.10298	AGA	INVS	-	NULL		0.632	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1	G	NM_014425		103054935	+1	no_errors	ENST00000262457	ensembl	human	known	70_37	missense	SNP	0.745	A
IQCA1	79781	genome.wustl.edu	37	2	237396739	237396739	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:237396739C>T	ENST00000409907.3	-	4	826	c.552G>A	c.(550-552)atG>atA	p.M184I	IQCA1_ENST00000309507.5_Missense_Mutation_p.M180I|IQCA1_ENST00000431676.2_Missense_Mutation_p.M184I	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	184							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AGATTTGCTTCATGAATAAAG	0.458																																																	0													81.0	76.0	77.0					2																	237396739		1901	4121	6022	SO:0001583	missense	79781			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.552G>A	2.37:g.237396739C>T	ENSP00000387347:p.Met184Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS	p.M184I	ENST00000409907.3	37	c.552	CCDS46549.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.07|18.07	3.541991|3.541991	0.65198|0.65198	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000418802|ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.|D;D;D	.|0.94576	.|-3.31;-3.31;-3.46	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.96713|0.96713	0.8927|0.8927	M|M	0.88310|0.88310	2.945|2.945	0.42010|0.42010	D|D	0.990939|0.990939	.|D;P;D	.|0.61080	.|0.974;0.803;0.989	.|P;P;P	.|0.51701	.|0.566;0.465;0.677	D|D	0.96995|0.96995	0.9725|0.9725	5|10	.|0.52906	.|T	.|0.07	.|.	19.3079|19.3079	0.94171|0.94171	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|184;191;184	.|E7EWQ0;E9PH78;Q86XH1	.|.;.;IQCA1_HUMAN	K|I	203|184;191;180;184;180	.|ENSP00000387347:M184I;ENSP00000311951:M180I;ENSP00000407213:M184I	.|ENSP00000254653:M184I	E|M	-|-	1|3	0|0	IQCA1|IQCA1	237061478|237061478	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.694000|0.694000	0.40290|0.40290	2.512000|2.512000	0.45485|0.45485	2.550000|2.550000	0.86006|0.86006	0.655000|0.655000	0.94253|0.94253	GAA|ATG	IQCA1	-	NULL		0.458	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	HGNC	protein_coding	OTTHUMT00000329266.1	C	NM_024726		237396739	-1	no_errors	ENST00000409907	ensembl	human	known	70_37	missense	SNP	1.000	T
IQGAP3	128239	genome.wustl.edu	37	1	156533585	156533585	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:156533585G>A	ENST00000361170.2	-	6	479	c.469C>T	c.(469-471)Cag>Tag	p.Q157*		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	157					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCATGTATCTGAGGGGCCAAT	0.542																																																	0													83.0	82.0	82.0					1																	156533585		2203	4300	6503	SO:0001587	stop_gained	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.469C>T	1.37:g.156533585G>A	ENSP00000354451:p.Gln157*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3H8	Nonsense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.Q157*	ENST00000361170.2	37	c.469	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.723578	0.97792	.	.	ENSG00000183856	ENST00000361170	.	.	.	5.65	5.65	0.86999	.	0.065298	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-19.6612	18.3042	0.90175	0.0:0.0:1.0:0.0	.	.	.	.	X	157	.	ENSP00000354451:Q157X	Q	-	1	0	IQGAP3	154800209	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.652000	0.74377	2.667000	0.90743	0.561000	0.74099	CAG	IQGAP3	-	superfamily_CH-domain		0.542	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	G	NM_178229		156533585	-1	no_errors	ENST00000361170	ensembl	human	known	70_37	nonsense	SNP	1.000	A
IRF2BP1	26145	genome.wustl.edu	37	19	46388059	46388059	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:46388059C>T	ENST00000302165.3	-	1	1317	c.974G>A	c.(973-975)gGa>gAa	p.G325E		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CCGCCATTCTCCTGATCCATG	0.667																																																	0													21.0	27.0	25.0					19																	46388059		2199	4295	6494	SO:0001583	missense	26145			AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.974G>A	19.37:g.46388059C>T	ENSP00000307265:p.Gly325Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.G325E	ENST00000302165.3	37	c.974	CCDS12678.1	19	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434560	0.62955	.	.	ENSG00000170604	ENST00000302165	T	0.20738	2.05	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000003	T	0.42966	0.1226	L	0.59436	1.845	0.54753	D	0.999987	D	0.76494	0.999	D	0.87578	0.998	T	0.35201	-0.9798	10	0.87932	D	0	.	15.0928	0.72207	0.0:1.0:0.0:0.0	.	325	Q8IU81	I2BP1_HUMAN	E	325	ENSP00000307265:G325E	ENSP00000307265:G325E	G	-	2	0	IRF2BP1	51079899	0.991000	0.36638	0.916000	0.36221	0.888000	0.51559	3.415000	0.52700	2.406000	0.81754	0.555000	0.69702	GGA	IRF2BP1	-	pfam_Interferon_reg_fac2-bd1_2_Znf		0.667	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BP1	HGNC	protein_coding	OTTHUMT00000461683.1	C	NM_015649		46388059	-1	no_errors	ENST00000302165	ensembl	human	known	70_37	missense	SNP	0.998	T
IRF2BPL	64207	genome.wustl.edu	37	14	77493983	77493983	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:77493983G>C	ENST00000238647.3	-	1	1051	c.153C>G	c.(151-153)atC>atG	p.I51M		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	51					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GCGCTGTCTCGATCACGAATT	0.692																																																	0													17.0	19.0	18.0					14																	77493983		2202	4299	6501	SO:0001583	missense	64207			AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.153C>G	14.37:g.77493983G>C	ENSP00000238647:p.Ile51Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.I51M	ENST00000238647.3	37	c.153	CCDS9854.1	14	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878274	0.33162	.	.	ENSG00000119669	ENST00000238647	T	0.54675	0.56	3.86	2.01	0.26516	Interferon regulatory factor 2-binding protein 1 &amp (1); 2, zinc finger (1);	0.156096	0.37577	U	0.002022	T	0.58595	0.2133	L	0.46157	1.445	0.47341	D	0.999399	D	0.89917	1.0	D	0.91635	0.999	T	0.56420	-0.7982	10	0.66056	D	0.02	-2.2413	4.3099	0.10965	0.2634:0.0:0.579:0.1575	.	51	Q9H1B7	I2BPL_HUMAN	M	51	ENSP00000238647:I51M	ENSP00000238647:I51M	I	-	3	3	IRF2BPL	76563736	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	2.272000	0.43373	0.301000	0.22738	0.205000	0.17691	ATC	IRF2BPL	-	pfam_Interferon_reg_fac2-bd1_2_Znf		0.692	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BPL	HGNC	protein_coding	OTTHUMT00000414298.1	G	NM_024496		77493983	-1	no_errors	ENST00000238647	ensembl	human	known	70_37	missense	SNP	1.000	C
IRF6	3664	genome.wustl.edu	37	1	209963024	209963024	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:209963024G>C	ENST00000367021.3	-	8	1339	c.1167C>G	c.(1165-1167)ctC>ctG	p.L389L	RP3-434O14.8_ENST00000430751.1_RNA|IRF6_ENST00000542854.1_Silent_p.L294L	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	389					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GAACCAAGATGAGTTTCCTTT	0.478										HNSCC(57;0.16)																																							0													166.0	136.0	146.0					1																	209963024		2203	4300	6503	SO:0001819	synonymous_variant	3664			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1167C>G	1.37:g.209963024G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLE2|D3DT90|F5GWX8|G0ZTL0	Silent	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.L389	ENST00000367021.3	37	c.1167	CCDS1492.1	1																																																																																			IRF6	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain		0.478	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF6	HGNC	protein_coding	OTTHUMT00000088827.1	G	NM_006147		209963024	-1	no_errors	ENST00000367021	ensembl	human	known	70_37	silent	SNP	1.000	C
IRF9	10379	genome.wustl.edu	37	14	24635117	24635117	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:24635117C>T	ENST00000396864.3	+	8	1340	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	IRF9_ENST00000557894.1_Silent_p.L292L|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	351					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CACTGAATTTCTGGGAAGAGA	0.507																																																	0													37.0	38.0	38.0					14																	24635117		2203	4300	6503	SO:0001819	synonymous_variant	10379			M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.1053C>T	14.37:g.24635117C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DS61	Silent	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.F351	ENST00000396864.3	37	c.1053	CCDS9615.1	14																																																																																			IRF9	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain		0.507	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF9	HGNC	protein_coding	OTTHUMT00000071927.2	C			24635117	+1	no_errors	ENST00000396864	ensembl	human	known	70_37	silent	SNP	1.000	T
IRGQ	126298	genome.wustl.edu	37	19	44097210	44097210	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:44097210G>C	ENST00000602269.1	-	2	1025	c.840C>G	c.(838-840)ggC>ggG	p.G280G	IRGQ_ENST00000601520.1_5'Flank|L34079.2_ENST00000594374.1_5'Flank|IRGQ_ENST00000422989.1_Silent_p.G280G			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	280	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TGCCCGTGTGGCCCAGAGGCA	0.711																																																	0													25.0	26.0	26.0					19																	44097210		2202	4298	6500	SO:0001819	synonymous_variant	126298			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.840C>G	19.37:g.44097210G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNP3	Silent	SNP	NULL	p.G280	ENST00000602269.1	37	c.840	CCDS33040.1	19																																																																																			IRGQ	-	NULL		0.711	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGQ	HGNC	protein_coding	OTTHUMT00000463205.1	G	NM_001007561		44097210	-1	no_errors	ENST00000422989	ensembl	human	known	70_37	silent	SNP	0.005	C
ISY1	57461	genome.wustl.edu	37	3	128849028	128849028	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:128849028C>T	ENST00000393295.3	-	11	1071	c.754G>A	c.(754-756)Gag>Aag	p.E252K	ISY1_ENST00000393292.3_Silent_p.*253*|ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.E252K|ISY1_ENST00000273541.8_Missense_Mutation_p.E274K|ISY1_ENST00000471497.1_5'UTR	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	252					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						AGTGCCTCCTCAATCTGTGGA	0.562																																																	0													82.0	85.0	84.0					3																	128849028		1954	4155	6109	SO:0001583	missense	57461				CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 33"""	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.754G>A	3.37:g.128849028C>T	ENSP00000376973:p.Glu252Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96IL2|Q9BT05	Missense_Mutation	SNP	pfam_Isy1	p.E274K	ENST00000393295.3	37	c.820	CCDS43149.1	3	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047589	0.93740	.	.	ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541	T	0.40476	1.03	5.42	5.42	0.78866	.	0.052357	0.85682	D	0.000000	T	0.66470	0.2792	M	0.82923	2.615	0.80722	D	1	D;D;D	0.76494	0.968;0.999;0.997	D;D;D	0.72982	0.915;0.979;0.966	T	0.69764	-0.5057	10	0.54805	T	0.06	.	14.7113	0.69235	0.0:1.0:0.0:0.0	.	274;252;252	Q9ULR0-2;Q9ULR0;Q9ULR0-1	.;ISY1_HUMAN;.	K	252;252;274	ENSP00000273541:E274K	ENSP00000273541:E274K	E	-	1	0	ISY1	130331718	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	6.473000	0.73572	2.554000	0.86153	0.484000	0.47621	GAG	ISY1	-	pfam_Isy1		0.562	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISY1	HGNC	protein_coding	OTTHUMT00000267856.1	C	NM_020701		128849028	-1	no_errors	ENST00000273541	ensembl	human	known	70_37	missense	SNP	1.000	T
ITGA2	3673	genome.wustl.edu	37	5	52351441	52351441	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:52351441G>A	ENST00000296585.5	+	8	996	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	285	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AACTGACGGTGAATCACATGA	0.388																																																	0													198.0	189.0	192.0					5																	52351441		2203	4300	6503	SO:0001583	missense	3673				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.853G>A	5.37:g.52351441G>A	ENSP00000296585:p.Glu285Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14595	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.E285K	ENST00000296585.5	37	c.853	CCDS3957.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.764097	0.96906	.	.	ENSG00000164171	ENST00000296585	D	0.82619	-1.63	5.54	5.54	0.83059	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.87672	0.6236	L	0.33710	1.025	0.80722	D	1	D;D	0.89917	1.0;0.981	D;P	0.97110	1.0;0.781	D	0.88428	0.3033	10	0.62326	D	0.03	.	19.4748	0.94983	0.0:0.0:1.0:0.0	.	285;285	E7ESP4;P17301	.;ITA2_HUMAN	K	285	ENSP00000296585:E285K	ENSP00000296585:E285K	E	+	1	0	ITGA2	52387198	1.000000	0.71417	0.983000	0.44433	0.983000	0.72400	9.230000	0.95299	2.593000	0.87608	0.650000	0.86243	GAA	ITGA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.388	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2	G	NM_002203		52351441	+1	no_errors	ENST00000296585	ensembl	human	known	70_37	missense	SNP	1.000	A
ITGA6	3655	genome.wustl.edu	37	2	173352121	173352121	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:173352121G>C	ENST00000264106.6	+	16	2420	c.2217G>C	c.(2215-2217)ctG>ctC	p.L739L	ITGA6_ENST00000264107.7_Silent_p.L700L|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000343713.4_Silent_p.L695L|ITGA6_ENST00000409532.1_Silent_p.L581L|ITGA6_ENST00000409080.1_Silent_p.L700L|ITGA6_ENST00000375221.2_Silent_p.L739L			P23229	ITA6_HUMAN	integrin, alpha 6	739					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AGGCTAAACTGATTGCAACGT	0.428																																																	0													82.0	83.0	83.0					2																	173352121		2203	4300	6503	SO:0001819	synonymous_variant	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2217G>C	2.37:g.173352121G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.L739	ENST00000264106.6	37	c.2217		2																																																																																			ITGA6	-	pfam_Integrin_alpha-2		0.428	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	HGNC	protein_coding		G			173352121	+1	no_errors	ENST00000264106	ensembl	human	known	70_37	silent	SNP	0.014	C
ITGAV	3685	genome.wustl.edu	37	2	187455218	187455218	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:187455218C>T	ENST00000261023.3	+	1	427	c.153C>T	c.(151-153)ttC>ttT	p.F51F	ITGAV_ENST00000374907.3_Silent_p.F51F	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	51					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.F51F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ACTTCGGCTTCGCCGTGGATT	0.637																																					Melanoma(58;108 1995 6081)												1	Substitution - coding silent(1)	urinary_tract(1)											33.0	39.0	37.0					2																	187455218		2203	4300	6503	SO:0001819	synonymous_variant	3685				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.153C>T	2.37:g.187455218C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.F51	ENST00000261023.3	37	c.153	CCDS2292.1	2																																																																																			ITGAV	-	smart_Int_alpha_beta-p		0.637	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2	C	NM_002210		187455218	+1	no_errors	ENST00000261023	ensembl	human	known	70_37	silent	SNP	1.000	T
ITGAV	3685	genome.wustl.edu	37	2	187531487	187531487	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:187531487G>A	ENST00000261023.3	+	22	2497	c.2223G>A	c.(2221-2223)gtG>gtA	p.V741V	ITGAV_ENST00000433736.2_Silent_p.V695V|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Silent_p.V705V	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	741					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ATACTTCTGTGAAATTTGACT	0.308																																					Melanoma(58;108 1995 6081)												0													96.0	95.0	95.0					2																	187531487		2203	4300	6503	SO:0001819	synonymous_variant	3685				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2223G>A	2.37:g.187531487G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V741	ENST00000261023.3	37	c.2223	CCDS2292.1	2																																																																																			ITGAV	-	pfam_Integrin_alpha-2		0.308	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2	G	NM_002210		187531487	+1	no_errors	ENST00000261023	ensembl	human	known	70_37	silent	SNP	1.000	A
ITGAX	3687	genome.wustl.edu	37	16	31371752	31371752	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:31371752G>A	ENST00000268296.4	+	8	950	c.829G>A	c.(829-831)Gat>Aat	p.D277N	ITGAX_ENST00000562522.1_Missense_Mutation_p.D277N	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	277	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCCATGGCTGATGCAGCAGG	0.537																																																	0													86.0	86.0	86.0					16																	31371752		2197	4300	6497	SO:0001583	missense	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.829G>A	16.37:g.31371752G>A	ENSP00000268296:p.Asp277Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVA6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.D277N	ENST00000268296.4	37	c.829	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045470	0.36085	.	.	ENSG00000140678	ENST00000268296	T	0.77620	-1.11	4.83	2.86	0.33363	von Willebrand factor, type A (3);	.	.	.	.	T	0.68815	0.3042	L	0.31926	0.97	0.09310	N	1	P	0.38800	0.648	B	0.41917	0.37	T	0.60326	-0.7285	9	0.72032	D	0.01	.	6.6623	0.23020	0.2888:0.0:0.7112:0.0	.	277	P20702	ITAX_HUMAN	N	277	ENSP00000268296:D277N	ENSP00000268296:D277N	D	+	1	0	ITGAX	31279253	0.368000	0.25031	0.017000	0.16124	0.006000	0.05464	1.033000	0.30191	0.738000	0.32606	0.591000	0.81541	GAT	ITGAX	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.537	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	G	NM_000887		31371752	+1	no_errors	ENST00000268296	ensembl	human	known	70_37	missense	SNP	0.026	A
ITGB1BP1	9270	genome.wustl.edu	37	2	9554375	9554375	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:9554375G>C	ENST00000360635.3	-	4	979	c.83C>G	c.(82-84)tCt>tGt	p.S28C	ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.S28C|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.S28C|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.S28C|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.S28C|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.S28C			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	28	Ser/Thr-rich.				activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		CCCAAGGCTAGAATCCACAGA	0.448																																																	0													119.0	120.0	120.0					2																	9554375		2203	4300	6503	SO:0001583	missense	9270			AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"""integrin cytoplasmic domain-associated protein 1"", ""integrin cytoplasmic domain-associated protein 1-beta"", ""integrin cytoplasmic domain-associated protein 1-alpha"", ""bodenin"""	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.83C>G	2.37:g.9554375G>C	ENSP00000353850:p.Ser28Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W4Y9|O14714|Q53RS0	Missense_Mutation	SNP	pfam_Integrin-bd_ICAP-1,smart_PTyr_interaction_dom	p.S28C	ENST00000360635.3	37	c.83	CCDS1662.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079043	0.76528	.	.	ENSG00000119185	ENST00000360635;ENST00000238091;ENST00000355346;ENST00000359712;ENST00000488451;ENST00000456913;ENST00000492079;ENST00000494563;ENST00000467606;ENST00000484735;ENST00000460001;ENST00000497105	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.993;0.996	T	0.70802	-0.4773	9	0.87932	D	0	-16.9605	19.861	0.96785	0.0:0.0:1.0:0.0	.	28;28;28	A8MPU2;O14713-2;O14713	.;.;ITBP1_HUMAN	C	28	.	ENSP00000238091:S28C	S	-	2	0	ITGB1BP1	9471826	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.532000	0.98057	2.767000	0.95098	0.655000	0.94253	TCT	ITGB1BP1	-	pfam_Integrin-bd_ICAP-1		0.448	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ITGB1BP1	HGNC	protein_coding	OTTHUMT00000314623.2	G	NM_004763, NM_022334		9554375	-1	no_errors	ENST00000355346	ensembl	human	known	70_37	missense	SNP	1.000	C
ITGB6	3694	genome.wustl.edu	37	2	161029180	161029180	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:161029180G>C	ENST00000283249.2	-	6	1058	c.821C>G	c.(820-822)tCt>tGt	p.S274C	ITGB6_ENST00000409872.1_Missense_Mutation_p.S274C|ITGB6_ENST00000409967.2_Missense_Mutation_p.S274C|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Missense_Mutation_p.S232C	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	274	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCCAAAATGAGAATCAGCATC	0.453																																																	0													168.0	156.0	160.0					2																	161029180		2203	4300	6503	SO:0001583	missense	3694				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.821C>G	2.37:g.161029180G>C	ENSP00000283249:p.Ser274Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.S274C	ENST00000283249.2	37	c.821	CCDS2212.1	2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766757	0.90020	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.98135	-4.74;-4.74;-4.74;-4.74	5.49	5.49	0.81192	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98754	0.9581	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99568	1.0970	10	0.66056	D	0.02	.	19.7273	0.96170	0.0:0.0:1.0:0.0	.	232;274	E9PEE8;P18564	.;ITB6_HUMAN	C	274;232;274;274	ENSP00000283249:S274C;ENSP00000408024:S232C;ENSP00000386828:S274C;ENSP00000386367:S274C	ENSP00000283249:S274C	S	-	2	0	ITGB6	160737426	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.718000	0.92993	0.655000	0.94253	TCT	ITGB6	-	pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu		0.453	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	G	NM_000888		161029180	-1	no_errors	ENST00000283249	ensembl	human	known	70_37	missense	SNP	1.000	C
ITPR1	3708	genome.wustl.edu	37	3	4747945	4747945	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:4747945G>A	ENST00000443694.2	+	34	4707	c.4707G>A	c.(4705-4707)atG>atA	p.M1569I	ITPR1_ENST00000302640.8_Missense_Mutation_p.M1569I|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.M1584I|ITPR1_ENST00000357086.4_Missense_Mutation_p.M1575I|ITPR1_ENST00000456211.2_Missense_Mutation_p.M1560I|ITPR1_ENST00000423119.2_Missense_Mutation_p.M1575I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1584				AIAIPVDLDSQVNNLFLKSHSIVQK -> HCHSRGPGQPSQ QPLSQVPQHCAE (in Ref. 6; AAD14386). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AAACAGCCATGAACTGGCGGC	0.557																																																	0													51.0	55.0	54.0					3																	4747945		1999	4169	6168	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.4707G>A	3.37:g.4747945G>A	ENSP00000401671:p.Met1569Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.M1569I	ENST00000443694.2	37	c.4707	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	8.603	0.887334	0.17540	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0	5.26	4.36	0.52297	.	0.208186	0.50627	D	0.000104	T	0.51176	0.1659	L	0.34521	1.04	0.80722	D	1	B;B	0.22909	0.01;0.077	B;B	0.21917	0.013;0.037	T	0.43032	-0.9416	10	0.21014	T	0.42	.	15.8935	0.79318	0.0:0.1359:0.8641:0.0	.	1584;1575	Q14643;G5E9P1	ITPR1_HUMAN;.	I	1584;1569;1584;1575;30;1575;1560;1569	ENSP00000306253:M1569I;ENSP00000346595:M1584I;ENSP00000405934:M1575I;ENSP00000349597:M1575I;ENSP00000397885:M1560I;ENSP00000401671:M1569I	ENSP00000306253:M1569I	M	+	3	0	ITPR1	4722945	1.000000	0.71417	1.000000	0.80357	0.309000	0.27889	2.790000	0.47821	1.291000	0.44653	0.655000	0.94253	ATG	ITPR1	-	NULL		0.557	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	G	NM_002222		4747945	+1	no_errors	ENST00000302640	ensembl	human	known	70_37	missense	SNP	1.000	A
ITPR2	3709	genome.wustl.edu	37	12	26709260	26709260	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:26709260C>G	ENST00000381340.3	-	36	5286	c.4870G>C	c.(4870-4872)Gaa>Caa	p.E1624Q		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1624					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ACTGAGAATTCAGCCTGCATC	0.468																																																	0													130.0	125.0	127.0					12																	26709260		2002	4166	6168	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4870G>C	12.37:g.26709260C>G	ENSP00000370744:p.Glu1624Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.E1624Q	ENST00000381340.3	37	c.4870	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751489	0.89753	.	.	ENSG00000123104	ENST00000381340	T	0.66460	-0.21	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.79816	0.4511	M	0.85041	2.73	0.80722	D	1	P	0.44521	0.837	P	0.50896	0.653	D	0.83775	0.0222	10	0.87932	D	0	.	18.6621	0.91474	0.0:1.0:0.0:0.0	.	1624	Q14571	ITPR2_HUMAN	Q	1624	ENSP00000370744:E1624Q	ENSP00000370744:E1624Q	E	-	1	0	ITPR2	26600527	1.000000	0.71417	0.782000	0.31804	0.977000	0.68977	7.375000	0.79646	2.404000	0.81709	0.491000	0.48974	GAA	ITPR2	-	superfamily_ARM-type_fold		0.468	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	C	NM_002223		26709260	-1	no_errors	ENST00000381340	ensembl	human	known	70_37	missense	SNP	0.997	G
ITPR3	3710	genome.wustl.edu	37	6	33647815	33647815	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:33647815G>A	ENST00000374316.5	+	32	5189	c.4129G>A	c.(4129-4131)Gag>Aag	p.E1377K	ITPR3_ENST00000605930.1_Missense_Mutation_p.E1377K			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1377					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CGCCTGTGCCGAGGGCAAAAA	0.627																																																	0													78.0	57.0	64.0					6																	33647815		2203	4300	6503	SO:0001583	missense	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.4129G>A	6.37:g.33647815G>A	ENSP00000363435:p.Glu1377Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14649|Q5TAQ2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.E1377K	ENST00000374316.5	37	c.4129	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.568192	0.96540	.	.	ENSG00000096433	ENST00000374316	D	0.92911	-3.13	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	D	0.95159	0.8431	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.95025	0.8164	10	0.51188	T	0.08	-33.2384	17.5645	0.87916	0.0:0.0:1.0:0.0	.	1377	Q14573	ITPR3_HUMAN	K	1377	ENSP00000363435:E1377K	ENSP00000363435:E1377K	E	+	1	0	ITPR3	33755793	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.813000	0.99286	2.206000	0.71126	0.462000	0.41574	GAG	ITPR3	-	NULL		0.627	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	G	NM_002224		33647815	+1	no_errors	ENST00000374316	ensembl	human	known	70_37	missense	SNP	1.000	A
ITSN1	6453	genome.wustl.edu	37	21	35257379	35257379	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:35257379G>A	ENST00000381318.3	+	37	4999	c.4711G>A	c.(4711-4713)Gaa>Aaa	p.E1571K	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.E1510K|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1566K|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1571K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1571	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCTGCTTCTGAACTCTACAT	0.517																																																	0													85.0	83.0	84.0					21																	35257379		2203	4300	6503	SO:0001583	missense	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4711G>A	21.37:g.35257379G>A	ENSP00000370719:p.Glu1571Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.E1571K	ENST00000381318.3	37	c.4711	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766419	0.90020	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442;ENST00000415023	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	5.58	5.58	0.84498	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.78394	0.4276	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.87578	0.998;0.987;0.987	T	0.77008	-0.2747	10	0.49607	T	0.09	.	19.9456	0.97181	0.0:0.0:1.0:0.0	.	1510;1566;1571	A8CTY3;A8CTX8;Q15811	.;.;ITSN1_HUMAN	K	1571;1571;1500;1566;1510;107	ENSP00000370719:E1571K;ENSP00000370685:E1571K;ENSP00000382301:E1566K;ENSP00000387377:E1510K;ENSP00000409800:E107K	ENSP00000370685:E1571K	E	+	1	0	ITSN1	34179249	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.340000	0.97038	2.782000	0.95742	0.655000	0.94253	GAA	ITSN1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.517	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	G	NM_003024		35257379	+1	no_errors	ENST00000381285	ensembl	human	known	70_37	missense	SNP	1.000	A
JAG1	182	genome.wustl.edu	37	20	10620521	10620521	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:10620521C>T	ENST00000254958.5	-	26	3797	c.3282G>A	c.(3280-3282)cgG>cgA	p.R1094R	JAG1_ENST00000423891.2_Silent_p.R935R	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1094					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TCCGCCGCTTCCGCAGGCACC	0.552									Alagille Syndrome																																								0													49.0	48.0	48.0					20																	10620521		2203	4300	6503	SO:0001819	synonymous_variant	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3282G>A	20.37:g.10620521C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.R1094	ENST00000254958.5	37	c.3282	CCDS13112.1	20																																																																																			JAG1	-	NULL		0.552	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		C	NM_000214		10620521	-1	no_errors	ENST00000254958	ensembl	human	known	70_37	silent	SNP	0.999	T
JAG1	182	genome.wustl.edu	37	20	10639327	10639327	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:10639327G>C	ENST00000254958.5	-	4	998	c.483C>G	c.(481-483)atC>atG	p.I161M	JAG1_ENST00000423891.2_Missense_Mutation_p.I2M	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	161					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGCTGGGGTTGATCATGCCCG	0.488									Alagille Syndrome																																								0													102.0	97.0	99.0					20																	10639327		2203	4300	6503	SO:0001583	missense	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.483C>G	20.37:g.10639327G>C	ENSP00000254958:p.Ile161Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.I161M	ENST00000254958.5	37	c.483	CCDS13112.1	20	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009988	0.75046	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.88201	-2.16;-2.35	5.36	-7.65	0.01281	.	0.000000	0.85682	D	0.000000	D	0.84479	0.5481	L	0.60455	1.87	0.45914	D	0.998752	P	0.46784	0.884	P	0.48952	0.596	T	0.81132	-0.1072	10	0.56958	D	0.05	.	6.2874	0.21041	0.2472:0.0:0.2713:0.4816	.	161	P78504	JAG1_HUMAN	M	161;2	ENSP00000254958:I161M;ENSP00000389519:I2M	ENSP00000254958:I161M	I	-	3	3	JAG1	10587327	0.997000	0.39634	0.886000	0.34754	0.994000	0.84299	0.346000	0.19997	-1.288000	0.02378	0.514000	0.50259	ATC	JAG1	-	NULL		0.488	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		G	NM_000214		10639327	-1	no_errors	ENST00000254958	ensembl	human	known	70_37	missense	SNP	0.972	C
JAK3	3718	genome.wustl.edu	37	19	17948788	17948788	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:17948788C>G	ENST00000527670.1	-	11	1683	c.1654G>C	c.(1654-1656)Gag>Cag	p.E552Q	JAK3_ENST00000534444.1_Missense_Mutation_p.E552Q|JAK3_ENST00000526008.1_5'Flank|JAK3_ENST00000458235.1_Missense_Mutation_p.E552Q			P52333	JAK3_HUMAN	Janus kinase 3	552	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	AGCAGCACCTCTGTCTTTCGG	0.582		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													180.0	179.0	179.0					19																	17948788		2203	4300	6503	SO:0001583	missense	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1654G>C	19.37:g.17948788C>G	ENSP00000432511:p.Glu552Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E552Q	ENST00000527670.1	37	c.1654	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047381	0.55110	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	D;D;D	0.82984	-1.67;-1.67;-1.67	4.93	4.93	0.64822	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.358530	0.24303	N	0.039705	D	0.90123	0.6914	M	0.73217	2.22	0.46044	D	0.998834	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.963	D	0.91042	0.4872	10	0.66056	D	0.02	-30.5381	15.6203	0.76802	0.0:1.0:0.0:0.0	.	552;552	P52333-2;P52333	.;JAK3_HUMAN	Q	552	ENSP00000391676:E552Q;ENSP00000432511:E552Q;ENSP00000436421:E552Q	ENSP00000413248:E552Q	E	-	1	0	JAK3	17809788	0.206000	0.23470	0.925000	0.36789	0.294000	0.27393	0.792000	0.26929	2.284000	0.76573	0.313000	0.20887	GAG	JAK3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.582	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	C	NM_000215		17948788	-1	no_errors	ENST00000458235	ensembl	human	known	70_37	missense	SNP	0.992	G
JARID2	3720	genome.wustl.edu	37	6	15507417	15507417	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:15507417C>G	ENST00000341776.2	+	10	2836	c.2592C>G	c.(2590-2592)caC>caG	p.H864Q	JARID2_ENST00000474854.1_3'UTR|JARID2_ENST00000541660.1_Missense_Mutation_p.H826Q|JARID2_ENST00000397311.3_Missense_Mutation_p.H692Q	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	864					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGGCAGTGCACTGCGGCAAGG	0.562																																																	0													73.0	69.0	70.0					6																	15507417		2203	4300	6503	SO:0001583	missense	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2592C>G	6.37:g.15507417C>G	ENSP00000341280:p.His864Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.H864Q	ENST00000341776.2	37	c.2592	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628320	0.67015	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.89343	-1.82;-1.82;-2.5	5.37	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.92244	0.7540	M	0.78456	2.415	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	D	0.92566	0.6062	10	0.87932	D	0	-16.003	9.7431	0.40431	0.0:0.84:0.0:0.16	.	826;864	F5H590;Q92833	.;JARD2_HUMAN	Q	864;692;826	ENSP00000341280:H864Q;ENSP00000380478:H692Q;ENSP00000444623:H826Q	ENSP00000341280:H864Q	H	+	3	2	JARID2	15615396	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.341000	0.33907	2.513000	0.84729	0.591000	0.81541	CAC	JARID2	-	NULL		0.562	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	C	NM_004973		15507417	+1	no_errors	ENST00000341776	ensembl	human	known	70_37	missense	SNP	1.000	G
JAZF1	221895	genome.wustl.edu	37	7	27935034	27935034	+	Splice_Site	SNP	A	A	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:27935034A>T	ENST00000283928.5	-	3	355	c.190T>A	c.(190-192)Ttc>Atc	p.F64I		NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	64					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						TCTGTCATGAATCTGAAACAA	0.488			T	SUZ12	endometrial stromal tumours																																			Dom	yes		7	7p15.2-p15.1	221895	juxtaposed with another zinc finger gene 1		M	0													51.0	50.0	51.0					7																	27935034		2203	4300	6503	SO:0001630	splice_region_variant	221895			BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"""Zinc fingers, C2H2-type"""	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.189-1T>A	7.37:g.27935034A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D195|Q8N3L7	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.F64I	ENST00000283928.5	37	c.190	CCDS5416.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.8|28.8	4.955797|4.955797	0.92726|0.92726	.|.	.|.	ENSG00000153814|ENSG00000153814	ENST00000427814|ENST00000283928;ENST00000430432;ENST00000447620;ENST00000420835	.|T	.|0.80304	.|-1.36	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87791|0.87791	0.6266|0.6266	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D	.|0.57899	.|0.981	.|D	.|0.69142	.|0.962	D|D	0.88822|0.88822	0.3299|0.3299	5|10	.|0.66056	.|D	.|0.02	-18.561|-18.561	15.5309|15.5309	0.75960|0.75960	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|64	.|Q86VZ6	.|JAZF1_HUMAN	E|I	50|64;31;40;79	.|ENSP00000283928:F64I	.|ENSP00000283928:F64I	D|F	-|-	3|1	2|0	JAZF1|JAZF1	27901559|27901559	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	8.962000|8.962000	0.93254|0.93254	2.073000|2.073000	0.62155|0.62155	0.533000|0.533000	0.62120|0.62120	GAT|TTC	JAZF1	-	NULL		0.488	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAZF1	HGNC	protein_coding	OTTHUMT00000250382.2	A	NM_175061	Missense_Mutation	27935034	-1	no_errors	ENST00000283928	ensembl	human	known	70_37	missense	SNP	1.000	T
JUN	3725	genome.wustl.edu	37	1	59248413	59248413	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:59248413G>A	ENST00000371222.2	-	1	1372	c.330C>T	c.(328-330)ttC>ttT	p.F110F	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	110					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	AGCCCTCGGCGAAGCCCTCCT	0.672			A		sarcoma																																			Dom	yes		1	1p32-p31	3725	jun oncogene		M	0													55.0	60.0	58.0					1																	59248413		2198	4297	6495	SO:0001819	synonymous_variant	3725			AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"""basic leucine zipper proteins"""	6204	protein-coding gene	gene with protein product		165160	"""v-jun avian sarcoma virus 17 oncogene homolog"", ""v-jun sarcoma virus 17 oncogene homolog (avian)"", ""jun oncogene"""			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.330C>T	1.37:g.59248413G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FHM7|Q96G93	Silent	SNP	pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.F110	ENST00000371222.2	37	c.330	CCDS610.1	1																																																																																			JUN	-	pfam_JNK		0.672	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUN	HGNC	protein_coding	OTTHUMT00000023042.1	G	NM_002228		59248413	-1	no_errors	ENST00000371222	ensembl	human	known	70_37	silent	SNP	0.999	A
JUNB	3726	genome.wustl.edu	37	19	12902990	12902990	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:12902990C>T	ENST00000302754.4	+	1	681	c.405C>T	c.(403-405)ttC>ttT	p.F135F		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	135					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						AGGAGGGCTTCGCCGACGGCT	0.706																																																	0													10.0	9.0	10.0					19																	12902990		2099	4175	6274	SO:0001819	synonymous_variant	3726			M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.405C>T	19.37:g.12902990C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96GH3	Silent	SNP	pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.F135	ENST00000302754.4	37	c.405	CCDS12280.1	19																																																																																			JUNB	-	pfam_JNK		0.706	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUNB	HGNC	protein_coding	OTTHUMT00000451015.1	C	NM_002229		12902990	+1	no_errors	ENST00000302754	ensembl	human	known	70_37	silent	SNP	1.000	T
KALRN	8997	genome.wustl.edu	37	3	123987683	123987683	+	Missense_Mutation	SNP	G	G	C	rs151088783		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:123987683G>C	ENST00000240874.3	+	5	701	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	KALRN_ENST00000360013.3_Missense_Mutation_p.E182Q|KALRN_ENST00000460856.1_Missense_Mutation_p.E182Q	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	182					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAACCATGAGGAGTGGATCGA	0.607																																																	0													71.0	69.0	70.0					3																	123987683		2203	4300	6503	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.544G>C	3.37:g.123987683G>C	ENSP00000240874:p.Glu182Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.E182Q	ENST00000240874.3	37	c.544	CCDS3027.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.20|15.20	2.762035|2.762035	0.49468|0.49468	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000448253;ENST00000354186	T;T;T|.	0.14144|.	2.53;2.53;2.53|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Cellular retinaldehyde-binding/triple function, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68495|0.68495	0.3007|0.3007	L|L	0.42581|0.42581	1.335|1.335	0.80722|0.80722	D|D	1|1	D;D;D|.	0.63880|.	0.988;0.993;0.993|.	P;D;D|.	0.72982|.	0.864;0.979;0.936|.	T|T	0.62661|0.62661	-0.6807|-0.6807	10|5	0.19147|.	T|.	0.46|.	.|.	19.5125|19.5125	0.95148|0.95148	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	182;182;182|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	Q|S	182|209;159	ENSP00000418611:E182Q;ENSP00000240874:E182Q;ENSP00000353109:E182Q|.	ENSP00000240874:E182Q|.	E|R	+|+	1|3	0|2	KALRN|KALRN	125470373|125470373	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	7.827000|7.827000	0.86722|0.86722	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAG|AGG	KALRN	-	NULL		0.607	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	G	NM_003947		123987683	+1	no_errors	ENST00000360013	ensembl	human	known	70_37	missense	SNP	1.000	C
KALRN	8997	genome.wustl.edu	37	3	124369774	124369774	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:124369774G>A	ENST00000291478.5	+	5	853	c.690G>A	c.(688-690)ctG>ctA	p.L230L	KALRN_ENST00000360013.3_Silent_p.L1927L|KALRN_ENST00000459915.1_Silent_p.L19L|KALRN_ENST00000428018.2_Silent_p.L198L|KALRN_ENST00000393496.1_Silent_p.L268L	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1926					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCAAGGCCCTGAGAGGCAGGA	0.567																																																	0													83.0	73.0	76.0					3																	124369774		2203	4300	6503	SO:0001819	synonymous_variant	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.690G>A	3.37:g.124369774G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.L1927	ENST00000291478.5	37	c.5781	CCDS3028.1	3																																																																																			KALRN	-	superfamily_DH-domain		0.567	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000246891.5	G	NM_003947		124369774	+1	no_errors	ENST00000360013	ensembl	human	known	70_37	silent	SNP	0.999	A
KANSL1	284058	genome.wustl.edu	37	17	44271224	44271224	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:44271224G>A	ENST00000574590.1	-	2	138				KANSL1-AS1_ENST00000572634.1_RNA|KANSL1_ENST00000572904.1_5'Flank|KANSL1-AS1_ENST00000572973.1_RNA|KANSL1_ENST00000393476.3_5'Flank|KANSL1_ENST00000262419.6_5'Flank|KANSL1-AS1_ENST00000398275.4_RNA	NM_001193465.1	NP_001180394.1	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CGTGAGCGAGGAACTGTTTGC	0.657																																																	0																																										SO:0001627	intron_variant	644246			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000574590.1:c.89-21626C>T	17.37:g.44271224G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	RNA	SNP	-	NULL	ENST00000574590.1	37	NULL	CCDS11503.1	17																																																																																			KANSL1-AS1	-	-		0.657	KANSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL1-AS1	HGNC	protein_coding	OTTHUMT00000440270.2	G	NM_015443		44271224	+1	no_errors	ENST00000572973	ensembl	human	known	70_37	rna	SNP	0.978	A
KAT2B	8850	genome.wustl.edu	37	3	20178473	20178473	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:20178473C>G	ENST00000263754.4	+	12	2244	c.1789C>G	c.(1789-1791)Cac>Gac	p.H597D	MIR3135A_ENST00000578460.1_RNA	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	597	N-acetyltransferase. {ECO:0000250|UniProtKB:Q92830, ECO:0000255|PROSITE-ProRule:PRU00532}.				cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GAAAGAATATCACATAAAGCA	0.358																																																	0													135.0	117.0	123.0					3																	20178473		2203	4300	6503	SO:0001583	missense	8850			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1789C>G	3.37:g.20178473C>G	ENSP00000263754:p.His597Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NSK1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.H597D	ENST00000263754.4	37	c.1789	CCDS2634.1	3	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993859	0.93167	.	.	ENSG00000114166	ENST00000263754	T	0.23552	1.9	5.66	5.66	0.87406	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.50127	-0.8864	10	0.56958	D	0.05	-23.0862	20.1253	0.97977	0.0:1.0:0.0:0.0	.	597	Q92831	KAT2B_HUMAN	D	597	ENSP00000263754:H597D	ENSP00000263754:H597D	H	+	1	0	KAT2B	20153477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.832000	0.97577	0.655000	0.94253	CAC	KAT2B	-	pirsf_Hist_acetylase_PCAF,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.358	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2B	HGNC	protein_coding	OTTHUMT00000252880.1	C	NM_003884		20178473	+1	no_errors	ENST00000263754	ensembl	human	known	70_37	missense	SNP	1.000	G
KATNAL2	83473	genome.wustl.edu	37	18	44572878	44572878	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:44572878G>A	ENST00000356157.7	+	2	120	c.102G>A	c.(100-102)tcG>tcA	p.S34S	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron					katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TTTTGATTTCGCATTATTTAA	0.358																																																	0																																										SO:0001819	synonymous_variant	83473			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000356157.7:c.102G>A	18.37:g.44572878G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_ATPase_AAA_core,pfam_LisH_dimerisation_subgr,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_LisH_dimerisation,smart_AAA+_ATPase,pfscan_LisH_dimerisation	p.S34	ENST00000356157.7	37	c.102		18																																																																																			KATNAL2	-	pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,pfscan_LisH_dimerisation		0.358	KATNAL2-010	NOVEL	basic	protein_coding	KATNAL2	HGNC	protein_coding	OTTHUMT00000446326.2	G	NM_031303		44572878	+1	no_errors	ENST00000356157	ensembl	human	novel	70_37	silent	SNP	1.000	A
KAZN	23254	genome.wustl.edu	37	1	15361347	15361347	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:15361347G>A	ENST00000376030.2	+	3	815	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	KAZN_ENST00000400798.2_Missense_Mutation_p.R80Q|KAZN_ENST00000361144.5_Missense_Mutation_p.R168Q|KAZN_ENST00000400797.3_Missense_Mutation_p.R80Q|KAZN_ENST00000422387.2_Missense_Mutation_p.R174Q|KAZN_ENST00000503743.1_Missense_Mutation_p.R174Q	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	174	Interaction with PPL.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GAGCAGCTCCGAGACTTCATC	0.632																																																	0													91.0	86.0	87.0					1																	15361347		2203	4300	6503	SO:0001583	missense	23254			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.521G>A	1.37:g.15361347G>A	ENSP00000365198:p.Arg174Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R174Q	ENST00000376030.2	37	c.521	CCDS152.2	1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338638	0.60963	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387;ENST00000361144;ENST00000376028;ENST00000400798;ENST00000400797	T;T;T;T;T;T;T	0.77229	0.8;0.8;0.8;0.8;-1.08;-1.08;-1.08	4.73	2.84	0.33178	.	0.000000	0.85682	D	0.000000	D	0.82318	0.5011	M	0.78049	2.395	0.53005	D	0.999964	D;P;D;D	0.76494	0.992;0.939;0.999;0.998	P;P;P;P	0.57009	0.463;0.544;0.811;0.704	T	0.78994	-0.1984	10	0.31617	T	0.26	-22.8741	9.0213	0.36202	0.0782:0.0:0.775:0.1468	.	174;80;168;174	Q674X7-2;Q674X7-4;Q674X7-3;Q674X7	.;.;.;KAZRN_HUMAN	Q	174;174;174;168;80;80;80	ENSP00000365198:R174Q;ENSP00000426015:R174Q;ENSP00000391728:R174Q;ENSP00000354727:R168Q;ENSP00000365196:R80Q;ENSP00000383602:R80Q;ENSP00000383601:R80Q	ENSP00000354727:R168Q	R	+	2	0	KAZN	15233934	1.000000	0.71417	0.288000	0.24862	0.629000	0.37895	9.381000	0.97205	0.535000	0.28714	-0.475000	0.04921	CGA	KAZN	-	NULL		0.632	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZN	HGNC	protein_coding	OTTHUMT00000005690.2	G	NM_001017999		15361347	+1	no_errors	ENST00000376030	ensembl	human	known	70_37	missense	SNP	0.985	A
KBTBD2	25948	genome.wustl.edu	37	7	32909521	32909521	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:32909521C>T	ENST00000304056.4	-	4	2007	c.1308G>A	c.(1306-1308)ctG>ctA	p.L436L	KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	436										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ACATGAGGTTCAGTGTCATCA	0.453																																																	0													144.0	116.0	126.0					7																	32909521		2203	4300	6503	SO:0001819	synonymous_variant	25948			AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1308G>A	7.37:g.32909521C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Silent	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L436	ENST00000304056.4	37	c.1308	CCDS34614.1	7																																																																																			KBTBD2	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.453	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD2	HGNC	protein_coding	OTTHUMT00000328890.1	C	XM_291224		32909521	-1	no_errors	ENST00000304056	ensembl	human	known	70_37	silent	SNP	1.000	T
KCNA2	3737	genome.wustl.edu	37	1	111147189	111147189	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:111147189G>A	ENST00000485317.1	-	3	889	c.216C>T	c.(214-216)ctC>ctT	p.L72L	KCNA2_ENST00000440270.1_Silent_p.L72L|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Silent_p.L72L|KCNA2_ENST00000369770.3_Silent_p.L72L			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	72					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	ACTCATTTCGGAGGGGGTCAA	0.522																																					Pancreas(18;568 735 10587 23710 36357)												0													71.0	78.0	76.0					1																	111147189		2203	4300	6503	SO:0001819	synonymous_variant	3737			L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.216C>T	1.37:g.111147189G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86XG6	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.2,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3,prints_2pore_dom_K_chnl,prints_K_chnl_volt-dep_Kv1.1	p.L72	ENST00000485317.1	37	c.216	CCDS827.1	1																																																																																			KCNA2	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1		0.522	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA2	HGNC	protein_coding	OTTHUMT00000128001.2	G	NM_004974		111147189	-1	no_errors	ENST00000316361	ensembl	human	known	70_37	silent	SNP	1.000	A
KCNA6	3742	genome.wustl.edu	37	12	4920615	4920615	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:4920615G>A	ENST00000280684.3	+	1	2274	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.E470K			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	470					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CCGGGAGACGGAGCAGGAGGA	0.617										HNSCC(72;0.22)																																							0													133.0	123.0	126.0					12																	4920615		2203	4300	6503	SO:0001583	missense	3742			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1408G>A	12.37:g.4920615G>A	ENSP00000280684:p.Glu470Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.E470K	ENST00000280684.3	37	c.1408	CCDS8534.1	12	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859999	0.91433	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97404	-4.37;-4.37	5.09	5.09	0.68999	.	0.101947	0.64402	D	0.000003	D	0.97870	0.9300	M	0.72894	2.215	0.54753	D	0.999989	B	0.33477	0.413	P	0.50860	0.652	D	0.98302	1.0519	10	0.66056	D	0.02	.	17.6514	0.88165	0.0:0.0:1.0:0.0	.	470	P17658	KCNA6_HUMAN	K	470	ENSP00000408321:E470K;ENSP00000280684:E470K	ENSP00000280684:E470K	E	+	1	0	KCNA6	4790876	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.565000	0.98154	2.641000	0.89580	0.591000	0.81541	GAG	KCNA6	-	NULL		0.617	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	G	NM_002235		4920615	+1	no_errors	ENST00000280684	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNAB1	7881	genome.wustl.edu	37	3	156175293	156175293	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:156175293G>C	ENST00000490337.1	+	4	473	c.409G>C	c.(409-411)Gat>Cat	p.D137H	KCNAB1_ENST00000389634.5_Missense_Mutation_p.D119H|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Missense_Mutation_p.D137H|KCNAB1_ENST00000302490.8_Missense_Mutation_p.D119H|KCNAB1_ENST00000471742.1_Missense_Mutation_p.D126H	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	137					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TAACCTCTTTGATACTGCCGA	0.463																																																	0													249.0	216.0	227.0					3																	156175293		2203	4300	6503	SO:0001583	missense	7881			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.409G>C	3.37:g.156175293G>C	ENSP00000419952:p.Asp137His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.D137H	ENST00000490337.1	37	c.409	CCDS3174.1	3	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401415	0.83120	.	.	ENSG00000169282	ENST00000472028;ENST00000490337;ENST00000389636;ENST00000471742;ENST00000475456;ENST00000302490;ENST00000389634	T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.48	5.48	0.80851	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	D	0.89097	0.6618	H	0.98786	4.33	0.80722	D	1	D;D;D;D;D	0.76494	0.97;0.984;0.999;0.998;0.997	D;P;D;D;D	0.87578	0.957;0.875;0.998;0.996;0.991	D	0.93002	0.6424	10	0.87932	D	0	-18.8225	14.8543	0.70323	0.0:0.0:1.0:0.0	.	137;119;119;126;137	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	H	55;137;137;126;80;119;119	ENSP00000420755:D55H;ENSP00000419952:D137H;ENSP00000374287:D137H;ENSP00000418956:D126H;ENSP00000420221:D80H;ENSP00000305858:D119H;ENSP00000374285:D119H	ENSP00000305858:D119H	D	+	1	0	KCNAB1	157657987	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.919000	0.87513	2.554000	0.86153	0.655000	0.94253	GAT	KCNAB1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB		0.463	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	KCNAB1	HGNC	protein_coding	OTTHUMT00000351411.1	G	NM_003471		156175293	+1	no_errors	ENST00000490337	ensembl	human	known	70_37	missense	SNP	1.000	C
KCNC3	3748	genome.wustl.edu	37	19	50827007	50827007	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:50827007G>C	ENST00000477616.1	-	2	1497	c.1203C>G	c.(1201-1203)ctC>ctG	p.L401L	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000376959.2_Silent_p.L401L	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	401					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CCTTGGAGCTGAGGCCCGAGA	0.612																																					Melanoma(91;1496 2324 50908)												0													84.0	82.0	83.0					19																	50827007		2203	4300	6503	SO:0001819	synonymous_variant	3748			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1203C>G	19.37:g.50827007G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.L401	ENST00000477616.1	37	c.1203	CCDS12793.1	19																																																																																			KCNC3	-	pfam_Ion_trans_dom		0.612	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2	G	NM_004977		50827007	-1	no_errors	ENST00000477616	ensembl	human	known	70_37	silent	SNP	1.000	C
KCND2	3751	genome.wustl.edu	37	7	120387853	120387853	+	Missense_Mutation	SNP	G	G	A	rs151258092		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:120387853G>A	ENST00000331113.4	+	6	2799	c.1834G>A	c.(1834-1836)Gat>Aat	p.D612N	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	612					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AGAAGGAGACGATAGGCCAGA	0.428																																																	0								G	ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	82.0	72.0	75.0		1834	5.5	1.0	7	dbSNP_134	75	0,8600		0,0,4300	no	missense	KCND2	NM_012281.2	23	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	612/631	120387853	2,13004	2203	4300	6503	SO:0001583	missense	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1834G>A	7.37:g.120387853G>A	ENSP00000333496:p.Asp612Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.D612N	ENST00000331113.4	37	c.1834	CCDS5776.1	7	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632010	0.46944	4.54E-4	0.0	ENSG00000184408	ENST00000331113	D	0.96774	-4.12	5.49	5.49	0.81192	.	0.063490	0.64402	D	0.000007	D	0.91932	0.7445	N	0.22421	0.69	0.35748	D	0.819202	B	0.31949	0.348	B	0.21917	0.037	D	0.91457	0.5186	9	.	.	.	.	19.7434	0.96241	0.0:0.0:1.0:0.0	.	612	Q9NZV8	KCND2_HUMAN	N	612	ENSP00000333496:D612N	.	D	+	1	0	KCND2	120175089	1.000000	0.71417	0.979000	0.43373	0.990000	0.78478	4.704000	0.61831	2.716000	0.92895	0.591000	0.81541	GAT	KCND2	-	NULL		0.428	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	G	NM_012281		120387853	+1	no_errors	ENST00000331113	ensembl	human	known	70_37	missense	SNP	0.995	A
KCNE2	9992	genome.wustl.edu	37	21	35742901	35742901	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:35742901G>C	ENST00000290310.3	+	2	264	c.124G>C	c.(124-126)Gat>Cat	p.D42H	AP000320.6_ENST00000440403.1_RNA	NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related family, member 2	42					aging (GO:0007568)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular protein localization (GO:0034613)|cellular response to drug (GO:0035690)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|positive regulation of proteasomal protein catabolic process (GO:1901800)|potassium ion export (GO:0071435)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of cyclic nucleotide-gated ion channel activity (GO:1902159)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of inward rectifier potassium channel activity (GO:1901979)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|tongue development (GO:0043586)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|large_intestine(1)	2						AGCCAAAGTTGATGCTGAGAA	0.458																																																	0													150.0	144.0	146.0					21																	35742901		2203	4300	6503	SO:0001583	missense	9992			AF071002	CCDS13635.1	21q22.1	2014-09-17			ENSG00000159197	ENSG00000159197		"""Potassium channels"""	6242	protein-coding gene	gene with protein product		603796				10219239	Standard	NM_172201		Approved	MiRP1, LQT6	uc002ytt.1	Q9Y6J6	OTTHUMG00000086189	ENST00000290310.3:c.124G>C	21.37:g.35742901G>C	ENSP00000290310:p.Asp42His	Somatic		WXS	Illumina HiSeq	Phase_IV	A5H1P3|D3DSF8|Q52LJ5	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE2	p.D42H	ENST00000290310.3	37	c.124	CCDS13635.1	21	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279469	0.40294	.	.	ENSG00000159197	ENST00000290310	D	0.91894	-2.93	5.53	4.45	0.53987	.	0.233834	0.34676	N	0.003779	D	0.91670	0.7367	L	0.36672	1.1	0.09310	N	1	D	0.55605	0.972	P	0.57620	0.824	D	0.85271	0.1056	10	0.72032	D	0.01	-8.3213	11.4923	0.50387	0.1564:0.0:0.8436:0.0	.	42	Q9Y6J6	KCNE2_HUMAN	H	42	ENSP00000290310:D42H	ENSP00000290310:D42H	D	+	1	0	KCNE2	34664771	0.134000	0.22483	0.071000	0.20095	0.482000	0.33219	1.907000	0.39897	2.588000	0.87417	0.561000	0.74099	GAT	KCNE2	-	prints_K_chnl_volt-dep_bsu_KCNE2		0.458	KCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNE2	HGNC	protein_coding	OTTHUMT00000194068.2	G			35742901	+1	no_errors	ENST00000290310	ensembl	human	known	70_37	missense	SNP	0.019	C
KCNG2	26251	genome.wustl.edu	37	18	77659699	77659699	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:77659699C>T	ENST00000316249.3	+	2	1284	c.1284C>T	c.(1282-1284)gcC>gcT	p.A428A	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	428					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCGAGCCGGCCCTGCAGGAGG	0.706																																																	0													21.0	23.0	22.0					18																	77659699		2199	4298	6497	SO:0001819	synonymous_variant	26251			AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1284C>T	18.37:g.77659699C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv	p.A428	ENST00000316249.3	37	c.1284	CCDS12019.1	18																																																																																			KCNG2	-	NULL		0.706	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNG2	HGNC	protein_coding	OTTHUMT00000103906.1	C	NM_012283		77659699	+1	no_errors	ENST00000316249	ensembl	human	known	70_37	silent	SNP	0.429	T
KCNH1	3756	genome.wustl.edu	37	1	210856728	210856728	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:210856728G>A	ENST00000271751.4	-	11	2892	c.2865C>T	c.(2863-2865)ctC>ctT	p.L955L	KCNH1_ENST00000367007.4_Silent_p.L928L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	955	CAD (involved in subunit assembly). {ECO:0000250}.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTAATATCCTGAGTATCTCAG	0.478																																																	0													93.0	86.0	89.0					1																	210856728		2203	4300	6503	SO:0001819	synonymous_variant	3756			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2865C>T	1.37:g.210856728G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQ26|O76035|Q14CL3	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.L955	ENST00000271751.4	37	c.2865	CCDS1496.1	1																																																																																			KCNH1	-	NULL		0.478	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1	G	NM_002238		210856728	-1	no_errors	ENST00000271751	ensembl	human	known	70_37	silent	SNP	1.000	A
KCNH2	3757	genome.wustl.edu	37	7	150647061	150647061	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:150647061C>T	ENST00000262186.5	-	9	2800				KCNH2_ENST00000392968.2_Intron|KCNH2_ENST00000430723.3_Missense_Mutation_p.E865K|KCNH2_ENST00000330883.4_Intron	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2						cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CCCCAGAGTTCAGCAGCCTCA	0.552																																					GBM(137;110 1844 13671 20123 45161)												0													34.0	48.0	43.0					7																	150647061		1163	2185	3348	SO:0001627	intron_variant	3757			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2398+194G>A	7.37:g.150647061C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,tigrfam_PAS	p.E865K	ENST00000262186.5	37	c.2593	CCDS5910.1	7	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068646	0.55539	.	.	ENSG00000055118	ENST00000430723	D	0.99207	-5.56	3.14	1.28	0.21552	.	.	.	.	.	D	0.95376	0.8499	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.013;0.002	B;B	0.14023	0.01;0.003	D	0.92329	0.5872	9	0.33141	T	0.24	.	5.6883	0.17815	0.0:0.7392:0.0:0.2608	.	865;525	G5E9I0;Q708S9	.;.	K	865	ENSP00000387657:E865K	ENSP00000387657:E865K	E	-	1	0	KCNH2	150277994	0.000000	0.05858	0.001000	0.08648	0.208000	0.24298	-0.276000	0.08514	0.344000	0.23847	0.462000	0.41574	GAA	KCNH2	-	NULL		0.552	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	C	NM_000238		150647061	-1	no_errors	ENST00000430723	ensembl	human	known	70_37	missense	SNP	0.001	T
KCNH2	3757	genome.wustl.edu	37	7	150648870	150648870	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:150648870C>G	ENST00000262186.5	-	7	2012	c.1611G>C	c.(1609-1611)cgG>cgC	p.R537R	KCNH2_ENST00000392968.2_Silent_p.R441R|KCNH2_ENST00000430723.3_Silent_p.R537R|KCNH2_ENST00000330883.4_Silent_p.R197R	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	537					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GATCCAGCTTCCGCGCCACGC	0.657																																					GBM(137;110 1844 13671 20123 45161)												0													36.0	34.0	35.0					7																	150648870		2203	4300	6503	SO:0001819	synonymous_variant	3757			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1611G>C	7.37:g.150648870C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R537	ENST00000262186.5	37	c.1611	CCDS5910.1	7																																																																																			KCNH2	-	pfam_Ion_trans_dom		0.657	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	C	NM_000238		150648870	-1	no_errors	ENST00000262186	ensembl	human	known	70_37	silent	SNP	0.996	G
KCNJ1	3758	genome.wustl.edu	37	11	128709914	128709914	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:128709914G>C	ENST00000392664.2	-	2	398	c.282C>G	c.(280-282)ttC>ttG	p.F94L	KCNJ1_ENST00000324036.3_Missense_Mutation_p.F75L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.F75L|KCNJ1_ENST00000392665.2_Missense_Mutation_p.F75L|KCNJ1_ENST00000440599.2_Missense_Mutation_p.F75L	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	94					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	GGAGACCAAAGAAAAACCAAC	0.443																																																	0													105.0	100.0	101.0					11																	128709914		2201	4297	6498	SO:0001583	missense	3758			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.282C>G	11.37:g.128709914G>C	ENSP00000376432:p.Phe94Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMR4|Q6LD67	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1,prints_K_chnl_inward-rec_Kir	p.F94L	ENST00000392664.2	37	c.282	CCDS8476.1	11	.	.	.	.	.	.	.	.	.	.	G	0.312	-0.967288	0.02232	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664;ENST00000324003	D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	5.79	3.8	0.43715	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.278251	0.34245	N	0.004137	T	0.77811	0.4186	N	0.04768	-0.165	0.35589	D	0.806917	B	0.02656	0.0	B	0.01281	0.0	T	0.71474	-0.4582	10	0.06494	T	0.89	.	7.9086	0.29776	0.1483:0.2147:0.637:0.0	.	94	P48048	IRK1_HUMAN	L	75;75;75;75;94;75	ENSP00000376433:F75L;ENSP00000376434:F75L;ENSP00000406320:F75L;ENSP00000316233:F75L;ENSP00000376432:F94L;ENSP00000316136:F75L	ENSP00000316136:F75L	F	-	3	2	KCNJ1	128215124	0.995000	0.38212	1.000000	0.80357	0.312000	0.27988	0.267000	0.18552	1.442000	0.47568	0.557000	0.71058	TTC	KCNJ1	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.443	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	KCNJ1	HGNC	protein_coding	OTTHUMT00000386233.1	G	NM_000220		128709914	-1	no_errors	ENST00000392664	ensembl	human	known	70_37	missense	SNP	1.000	C
KCNJ6	3763	genome.wustl.edu	37	21	39087250	39087250	+	Silent	SNP	C	C	G	rs377354413		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:39087250C>G	ENST00000609713.1	-	3	799	c.210G>C	c.(208-210)gtG>gtC	p.V70V	KCNJ6_ENST00000288309.6_Silent_p.V70V|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	70					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	AGGTCTCCCTCACGTTGCCGT	0.478																																					Pancreas(48;379 1118 2936 19024 28214)												0													258.0	241.0	247.0					21																	39087250		2032	4173	6205	SO:0001819	synonymous_variant	3763			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.210G>C	21.37:g.39087250C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MJ74|Q53WW6	Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2	p.V70	ENST00000609713.1	37	c.210	CCDS42927.1	21																																																																																			KCNJ6	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir		0.478	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	C	NM_002240		39087250	-1	no_errors	ENST00000288309	ensembl	human	known	70_37	silent	SNP	1.000	G
KCNJ9	3765	genome.wustl.edu	37	1	160054516	160054516	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:160054516C>G	ENST00000368088.3	+	2	938	c.696C>G	c.(694-696)ttC>ttG	p.F232L		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	232					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCGTGGGCTTCGACACGGGAG	0.682																																																	0													12.0	11.0	12.0					1																	160054516		2199	4289	6488	SO:0001583	missense	3765			U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.696C>G	1.37:g.160054516C>G	ENSP00000357067:p.Phe232Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JW75	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.3	p.F232L	ENST00000368088.3	37	c.696	CCDS1194.1	1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282089	0.59867	.	.	ENSG00000162728	ENST00000368088	D	0.93659	-3.26	4.12	0.964	0.19655	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.062151	0.64402	D	0.000004	D	0.91516	0.7321	M	0.67700	2.07	0.40845	D	0.983709	P	0.50819	0.939	P	0.56474	0.799	D	0.89314	0.3635	10	0.51188	T	0.08	.	7.6104	0.28126	0.0:0.5399:0.0:0.4601	.	232	Q92806	IRK9_HUMAN	L	232	ENSP00000357067:F232L	ENSP00000357067:F232L	F	+	3	2	KCNJ9	158321140	0.801000	0.28930	1.000000	0.80357	0.949000	0.60115	-0.022000	0.12480	0.291000	0.22468	0.555000	0.69702	TTC	KCNJ9	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.682	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ9	HGNC	protein_coding	OTTHUMT00000060628.1	C	NM_004983		160054516	+1	no_errors	ENST00000368088	ensembl	human	known	70_37	missense	SNP	0.997	G
KCNN3	3782	genome.wustl.edu	37	1	154744744	154744744	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:154744744G>A	ENST00000271915.4	-	3	1470	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	KCNN3_ENST00000361147.4_Silent_p.F80F|KCNN3_ENST00000358505.2_Silent_p.F72F	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	390					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GTGCCGTCCAGAAGAACTTGT	0.597																																																	0													65.0	60.0	62.0					1																	154744744		2203	4300	6503	SO:0001819	synonymous_variant	3782			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1155C>T	1.37:g.154744744G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.F385	ENST00000271915.4	37	c.1155	CCDS30880.1	1																																																																																			KCNN3	-	pfam_K_chnl_Ca-activ_SK,prints_K_chnl_Ca-activ_SK		0.597	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3	G	NM_002249		154744744	-1	no_errors	ENST00000271915	ensembl	human	known	70_37	silent	SNP	1.000	A
KCNK2	3776	genome.wustl.edu	37	1	215259917	215259917	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:215259917C>G	ENST00000444842.2	+	2	403	c.253C>G	c.(253-255)Cag>Gag	p.Q85E	KCNK2_ENST00000391895.2_Missense_Mutation_p.Q81E|KCNK2_ENST00000391894.2_Missense_Mutation_p.Q70E	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	85					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.Q70K(1)|p.Q85K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	AGCATTGGAGCAGCCTCATGA	0.463																																																	2	Substitution - Missense(2)	lung(2)											128.0	114.0	119.0					1																	215259917		2203	4300	6503	SO:0001583	missense	3776			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.253C>G	1.37:g.215259917C>G	ENSP00000394033:p.Gln85Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.Q85E	ENST00000444842.2	37	c.253	CCDS41467.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060541	0.76074	.	.	ENSG00000082482	ENST00000366948;ENST00000391895;ENST00000478774;ENST00000391894;ENST00000444842;ENST00000457122	T;D;T;T;T	0.97328	1.93;-4.34;1.93;1.93;1.93	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.79926	2.475	0.80722	D	1	P;B;D	0.69078	0.917;0.112;0.997	P;B;D	0.74348	0.693;0.082;0.983	D	0.99293	1.0899	10	0.72032	D	0.01	.	19.5079	0.95127	0.0:1.0:0.0:0.0	.	70;85;81	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	E	81;81;29;70;85;29	ENSP00000375765:Q81E;ENSP00000420569:Q29E;ENSP00000375764:Q70E;ENSP00000394033:Q85E;ENSP00000413460:Q29E	ENSP00000355915:Q81E	Q	+	1	0	KCNK2	213326540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.612000	0.88384	0.557000	0.71058	CAG	KCNK2	-	prints_2pore_dom_K_chnl_TASK		0.463	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK2	HGNC	protein_coding	OTTHUMT00000089856.2	C	NM_014217		215259917	+1	no_errors	ENST00000444842	ensembl	human	known	70_37	missense	SNP	1.000	G
KCNQ3	3786	genome.wustl.edu	37	8	133492601	133492601	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:133492601C>G	ENST00000388996.4	-	1	599	c.179G>C	c.(178-180)gGa>gCa	p.G60A	KCNQ3_ENST00000519445.1_Missense_Mutation_p.G60A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	60					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TTTGTCGGCTCCGGCCCCGAG	0.761																																																	0													10.0	12.0	11.0					8																	133492601		2177	4208	6385	SO:0001583	missense	3786			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.179G>C	8.37:g.133492601C>G	ENSP00000373648:p.Gly60Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.G60A	ENST00000388996.4	37	c.179	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	C	8.843	0.942739	0.18281	.	.	ENSG00000184156	ENST00000388996;ENST00000519445;ENST00000542679	D;D	0.98777	-5.11;-5.13	4.1	3.21	0.36854	.	0.000000	0.47852	D	0.000207	D	0.95043	0.8395	L	0.27053	0.805	0.39395	D	0.966486	P;P	0.42908	0.793;0.793	B;B	0.38842	0.283;0.283	D	0.93389	0.6750	10	0.13108	T	0.6	-5.3909	11.8152	0.52207	0.1772:0.8228:0.0:0.0	.	60;60	E7ET42;O43525	.;KCNQ3_HUMAN	A	60;60;49	ENSP00000373648:G60A;ENSP00000428790:G60A	ENSP00000373648:G60A	G	-	2	0	KCNQ3	133561783	0.999000	0.42202	0.558000	0.28319	0.067000	0.16453	4.164000	0.58190	0.911000	0.36747	-0.321000	0.08615	GGA	KCNQ3	-	NULL		0.761	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	C	NM_004519		133492601	-1	no_errors	ENST00000388996	ensembl	human	known	70_37	missense	SNP	0.990	G
KCNQ5	56479	genome.wustl.edu	37	6	73879568	73879568	+	Missense_Mutation	SNP	G	G	A	rs372957711		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:73879568G>A	ENST00000370398.1	+	11	1677	c.1568G>A	c.(1567-1569)cGa>cAa	p.R523Q	KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R524Q|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R523Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R533Q|KCNQ5_ENST00000342056.2_Missense_Mutation_p.R542Q|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R514Q	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	523					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	ACTGTCATTCGAGCTATCAGG	0.393																																					GBM(142;1375 1859 14391 23261 44706)												0								G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,	0,4406		0,0,2203	138.0	109.0	119.0		1541,1598,1625,1568,	5.5	1.0	6		119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,intron	KCNQ5	NM_001160130.1,NM_001160132.1,NM_001160133.1,NM_019842.3,NM_001160134.1	43,43,43,43,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,	514/924,533/943,542/952,523/933,	73879568	1,13005	2203	4300	6503	SO:0001583	missense	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1568G>A	6.37:g.73879568G>A	ENSP00000359425:p.Arg523Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R533Q	ENST00000370398.1	37	c.1598	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960661	0.92791	0.0	1.16E-4	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813	D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	5.46	5.46	0.80206	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.998;0.998	D	0.97363	0.9971	10	0.66056	D	0.02	.	19.295	0.94118	0.0:0.0:1.0:0.0	.	533;542;514;523	Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;KCNQ5_HUMAN	Q	542;542;523;523;533;524;514	ENSP00000345055:R542Q;ENSP00000347326:R523Q;ENSP00000359425:R523Q;ENSP00000385501:R533Q;ENSP00000347853:R524Q;ENSP00000384453:R514Q	ENSP00000345055:R542Q	R	+	2	0	KCNQ5	73936289	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.730000	0.84881	2.726000	0.93360	0.655000	0.94253	CGA	KCNQ5	-	pfam_K_chnl_volt-dep_KCNQ_C		0.393	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	G	NM_019842		73879568	+1	no_errors	ENST00000402622	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNT2	343450	genome.wustl.edu	37	1	196196859	196196859	+	IGR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:196196859C>T	ENST00000294725.9	-	0	4409				KCNT2_ENST00000367433.5_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2						potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACACAAAAGTCAGCCACACAA	0.269																																																	0																																										SO:0001628	intergenic_variant	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611		1.37:g.196196859C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SY59|Q5VTN1|Q6ZMT3	RNA	SNP	-	NULL	ENST00000294725.9	37	NULL	CCDS1384.1	1																																																																																			KCNT2	-	-		0.269	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	C	NM_198503		196196859	-1	no_errors	ENST00000498426	ensembl	human	known	70_37	rna	SNP	0.214	T
KDM3A	55818	genome.wustl.edu	37	2	86697389	86697389	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:86697389G>A	ENST00000409556.1	+	12	1947	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	KDM3A_ENST00000312912.5_Missense_Mutation_p.E528K|KDM3A_ENST00000409064.1_Missense_Mutation_p.E528K|KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000542128.1_Missense_Mutation_p.E476K			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	528					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E528K(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ACAGAGTGGCGAGGCCTTCGT	0.488																																					NSCLC(96;1150 1523 6936 46253 49736)												1	Substitution - Missense(1)	large_intestine(1)											120.0	108.0	112.0					2																	86697389		2203	4300	6503	SO:0001583	missense	55818			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1582G>A	2.37:g.86697389G>A	ENSP00000386660:p.Glu528Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.E528K	ENST00000409556.1	37	c.1582	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.819130	0.96982	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.86	5.86	0.93980	.	0.068400	0.64402	D	0.000012	T	0.68403	0.2997	M	0.75777	2.31	0.58432	D	0.999996	D;D	0.65815	0.994;0.995	P;P	0.61874	0.895;0.838	T	0.69472	-0.5136	10	0.62326	D	0.03	.	19.1654	0.93555	0.0:0.0:1.0:0.0	.	476;528	F5H070;Q9Y4C1	.;KDM3A_HUMAN	K	528;528;528;528;476	ENSP00000386660:E528K;ENSP00000323659:E528K;ENSP00000386516:E528K;ENSP00000438324:E476K	ENSP00000323659:E528K	E	+	1	0	KDM3A	86550900	1.000000	0.71417	0.970000	0.41538	0.987000	0.75469	9.845000	0.99498	2.778000	0.95560	0.655000	0.94253	GAG	KDM3A	-	NULL		0.488	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	G	NM_018433		86697389	+1	no_errors	ENST00000312912	ensembl	human	known	70_37	missense	SNP	1.000	A
KCTD18	130535	genome.wustl.edu	37	2	201354957	201354957	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:201354957G>C	ENST00000359878.3	-	7	1657	c.1147C>G	c.(1147-1149)Ccg>Gcg	p.P383A	KCTD18_ENST00000468413.1_5'Flank|KCTD18_ENST00000409157.1_Missense_Mutation_p.P383A	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	383					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GCGCACAGCGGAGTCCTCTTC	0.642																																																	0													79.0	76.0	77.0					2																	201354957		2203	4300	6503	SO:0001583	missense	130535			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.1147C>G	2.37:g.201354957G>C	ENSP00000352941:p.Pro383Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.P383A	ENST00000359878.3	37	c.1147	CCDS2330.1	2	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967313	0.53507	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.57907	0.37;0.37	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000015	T	0.61924	0.2386	L	0.29908	0.895	0.40752	D	0.982924	D	0.89917	1.0	D	0.80764	0.994	T	0.66834	-0.5823	10	0.87932	D	0	-17.3544	15.981	0.80111	0.0:0.0:1.0:0.0	.	383	Q6PI47	KCD18_HUMAN	A	383	ENSP00000352941:P383A;ENSP00000386751:P383A	ENSP00000352941:P383A	P	-	1	0	KCTD18	201063202	1.000000	0.71417	0.914000	0.36105	0.016000	0.09150	4.709000	0.61867	2.531000	0.85337	0.655000	0.94253	CCG	KCTD18	-	NULL		0.642	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD18	HGNC	protein_coding	OTTHUMT00000256188.1	G	NM_152387		201354957	-1	no_errors	ENST00000359878	ensembl	human	known	70_37	missense	SNP	1.000	C
KDM4A	9682	genome.wustl.edu	37	1	44169066	44169066	+	Intron	DEL	T	T	-	rs570960378	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:44169066delT	ENST00000372396.3	+	20	2975				KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000453015.1_RNA|KDM4A-AS1_ENST00000434346.1_RNA|KDM4A-AS1_ENST00000418149.1_RNA|KDM4A-AS1_ENST00000439057.1_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A						cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TATAGCTGGATTTTTTTTTTT	0.433													|||unknown(LONG_INSERTION)	1432	0.285942	0.2776	0.3112	5008	,	,		18094	0.2817		0.2863	False		,,,				2504	0.2832																0																																										SO:0001627	intron_variant	100132774			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2842-222T>-	1.37:g.44169066delT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVB1	RNA	DEL	-	NULL	ENST00000372396.3	37	NULL	CCDS491.1	1																																																																																			KDM4A-AS1	-	-		0.433	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A-AS1	HGNC	protein_coding	OTTHUMT00000019960.1	T	NM_014663		44169066	-1	no_errors	ENST00000453015	ensembl	human	known	70_37	rna	DEL	0.000	-
KDM4D	55693	genome.wustl.edu	37	11	94730884	94730884	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:94730884G>C	ENST00000335080.5	+	3	1180	c.348G>C	c.(346-348)caG>caC	p.Q116H	KDM4D_ENST00000536741.1_Missense_Mutation_p.Q116H	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	116					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CACCACACCAGAATTTCGAAG	0.408																																																	0													85.0	85.0	85.0					11																	94730884		2201	4298	6499	SO:0001583	missense	55693			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.348G>C	11.37:g.94730884G>C	ENSP00000334181:p.Gln116His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.Q116H	ENST00000335080.5	37	c.348	CCDS8302.1	11	.	.	.	.	.	.	.	.	.	.	G	5.432	0.264776	0.10294	.	.	ENSG00000186280	ENST00000335080	T	0.42131	0.98	4.44	-1.34	0.09143	.	0.579030	0.15447	U	0.261869	T	0.26846	0.0657	L	0.46157	1.445	0.09310	N	1	P	0.38922	0.651	B	0.28991	0.097	T	0.12451	-1.0547	10	0.27082	T	0.32	-1.3432	9.8445	0.41019	0.0867:0.5643:0.349:0.0	.	116	Q6B0I6	KDM4D_HUMAN	H	116	ENSP00000334181:Q116H	ENSP00000334181:Q116H	Q	+	3	2	KDM4D	94370532	0.012000	0.17670	0.000000	0.03702	0.031000	0.12232	0.867000	0.27968	-0.326000	0.08564	-0.502000	0.04539	CAG	KDM4D	-	NULL		0.408	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4D	HGNC	protein_coding	OTTHUMT00000396558.2	G	NM_018039		94730884	+1	no_errors	ENST00000335080	ensembl	human	known	70_37	missense	SNP	0.000	C
KDM4D	55693	genome.wustl.edu	37	11	94731840	94731840	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:94731840C>T	ENST00000335080.5	+	3	2136	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	KDM4D_ENST00000536741.1_Missense_Mutation_p.S435F	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	435					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACTCCATCATCCACCCCTGGT	0.592																																																	0													73.0	73.0	73.0					11																	94731840		2201	4298	6499	SO:0001583	missense	55693			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1304C>T	11.37:g.94731840C>T	ENSP00000334181:p.Ser435Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.S435F	ENST00000335080.5	37	c.1304	CCDS8302.1	11	.	.	.	.	.	.	.	.	.	.	C	9.341	1.062922	0.19987	.	.	ENSG00000186280	ENST00000335080	T	0.28895	1.59	3.77	-1.61	0.08399	.	8.952840	0.01111	U	0.005565	T	0.17831	0.0428	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.21827	-1.0234	10	0.59425	D	0.04	0.4183	2.832	0.05503	0.3524:0.3378:0.0:0.3098	.	435	Q6B0I6	KDM4D_HUMAN	F	435	ENSP00000334181:S435F	ENSP00000334181:S435F	S	+	2	0	KDM4D	94371488	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.320000	0.02700	-0.306000	0.08818	-0.136000	0.14681	TCC	KDM4D	-	NULL		0.592	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4D	HGNC	protein_coding	OTTHUMT00000396558.2	C	NM_018039		94731840	+1	no_errors	ENST00000335080	ensembl	human	known	70_37	missense	SNP	0.000	T
KDM4E	390245	genome.wustl.edu	37	11	94760060	94760060	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:94760060C>G	ENST00000450979.2	+	1	1639	c.1339C>G	c.(1339-1341)Caa>Gaa	p.Q447E		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	447					histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						tggtcaaggtcaaggtcgagg	0.572																																																	0													86.0	77.0	80.0					11																	94760060		692	1591	2283	SO:0001583	missense	390245			BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.1339C>G	11.37:g.94760060C>G	ENSP00000397239:p.Gln447Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.Q447E	ENST00000450979.2	37	c.1339	CCDS44713.1	11	.	.	.	.	.	.	.	.	.	.	c	2.285	-0.363910	0.05103	.	.	ENSG00000235268	ENST00000450979	T	0.26957	1.7	0.617	0.617	0.17619	.	.	.	.	.	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36744	-0.9735	8	0.02654	T	1	.	.	.	.	.	447	B2RXH2	KD4DL_HUMAN	E	447	ENSP00000397239:Q447E	ENSP00000397239:Q447E	Q	+	1	0	KDM4DL	94399708	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.121000	0.10643	0.593000	0.29745	0.393000	0.25936	CAA	KDM4E	-	NULL		0.572	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4E	HGNC	protein_coding	OTTHUMT00000396649.1	C	NM_001161630		94760060	+1	no_errors	ENST00000450979	ensembl	human	known	70_37	missense	SNP	0.000	G
KDM5A	5927	genome.wustl.edu	37	12	402293	402293	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:402293C>G	ENST00000399788.2	-	27	4860	c.4498G>C	c.(4498-4500)Gac>Cac	p.D1500H	KDM5A_ENST00000382815.4_Missense_Mutation_p.D1500H|KDM5A_ENST00000540838.1_5'Flank	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1500	Lys-rich.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCTGAAGAGTCCTTTCCTTTC	0.348			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0													81.0	73.0	76.0					12																	402293		1836	4078	5914	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4498G>C	12.37:g.402293C>G	ENSP00000382688:p.Asp1500His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.D1500H	ENST00000399788.2	37	c.4498	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346729	0.82022	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.85955	-2.05;-1.83	5.77	5.77	0.91146	.	0.163424	0.52532	D	0.000064	D	0.89550	0.6747	L	0.48642	1.525	0.80722	D	1	D;D	0.61697	0.983;0.99	P;P	0.61592	0.78;0.891	D	0.88814	0.3294	10	0.49607	T	0.09	-13.292	19.9785	0.97317	0.0:1.0:0.0:0.0	.	1500;1500	P29375;P29375-2	KDM5A_HUMAN;.	H	1500	ENSP00000382688:D1500H;ENSP00000372265:D1500H	ENSP00000372265:D1500H	D	-	1	0	KDM5A	272554	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.797000	0.85911	2.724000	0.93272	0.650000	0.86243	GAC	KDM5A	-	NULL		0.348	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	C	NM_005056		402293	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	missense	SNP	1.000	G
KDM6B	23135	genome.wustl.edu	37	17	7750495	7750495	+	Missense_Mutation	SNP	C	C	T	rs201121189		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:7750495C>T	ENST00000448097.2	+	10	1313	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	KDM6B_ENST00000254846.5_Missense_Mutation_p.R328W			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	328	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCCTGGCCACCGGCTGGTCCC	0.682																																																	0								C	TRP/ARG	0,4356		0,0,2178	36.0	47.0	44.0		982	5.4	1.0	17		44	6,8496		0,6,4245	yes	missense	KDM6B	NM_001080424.1	101	0,6,6423	TT,TC,CC		0.0706,0.0,0.0467	probably-damaging	328/1683	7750495	6,12852	2178	4251	6429	SO:0001583	missense	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.982C>T	17.37:g.7750495C>T	ENSP00000412513:p.Arg328Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	C9IZ40|Q96G33	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R328W	ENST00000448097.2	37	c.982		17	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512143	0.44660	0.0	7.06E-4	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.08720	3.06;3.06	5.36	5.36	0.76844	.	0.365001	0.26146	N	0.026066	T	0.16171	0.0389	N	0.14661	0.345	0.31241	N	0.695169	D	0.89917	1.0	D	0.70016	0.967	T	0.02560	-1.1141	10	0.72032	D	0.01	-4.461	18.2434	0.89977	0.0:1.0:0.0:0.0	.	328	O15054-1	.	W	328	ENSP00000254846:R328W;ENSP00000412513:R328W	ENSP00000254846:R328W	R	+	1	2	KDM6B	7691220	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.938000	0.28965	2.688000	0.91661	0.561000	0.74099	CGG	KDM6B	-	NULL		0.682	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1	C	XM_043272		7750495	+1	no_errors	ENST00000254846	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA0020	9933	genome.wustl.edu	37	9	2831026	2831026	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:2831026C>T	ENST00000397885.2	-	7	819	c.613G>A	c.(613-615)Gat>Aat	p.D205N	KIAA0020_ENST00000469168.1_5'Flank	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	205	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TCAACCAAATCATCTGAAAAA	0.294																																																	0													32.0	31.0	31.0					9																	2831026		2187	4285	6472	SO:0001583	missense	9933			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.613G>A	9.37:g.2831026C>T	ENSP00000380982:p.Asp205Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.D205N	ENST00000397885.2	37	c.613	CCDS6448.2	9	.	.	.	.	.	.	.	.	.	.	C	8.929	0.963086	0.18583	.	.	ENSG00000080608	ENST00000397885	T	0.65732	-0.17	5.53	4.55	0.56014	Armadillo-like helical (1);Armadillo-type fold (1);	0.350689	0.34725	N	0.003738	T	0.35566	0.0936	N	0.13198	0.31	0.35764	D	0.820429	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25502	-1.0130	10	0.13470	T	0.59	-30.5625	2.4024	0.04405	0.0:0.4022:0.3119:0.2859	.	65;205	B2RDG4;Q15397	.;K0020_HUMAN	N	205	ENSP00000380982:D205N	ENSP00000380982:D205N	D	-	1	0	KIAA0020	2821026	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	1.884000	0.39668	1.179000	0.42884	0.650000	0.86243	GAT	KIAA0020	-	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt		0.294	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	HGNC	protein_coding	OTTHUMT00000051529.3	C	NM_014878		2831026	-1	no_errors	ENST00000397885	ensembl	human	known	70_37	missense	SNP	0.990	T
KIAA0226	9711	genome.wustl.edu	37	3	197408081	197408081	+	Missense_Mutation	SNP	C	C	G	rs370027191		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:197408081C>G	ENST00000296343.5	-	16	2348	c.2349G>C	c.(2347-2349)aaG>aaC	p.K783N	KIAA0226_ENST00000389665.5_Missense_Mutation_p.K808N|KIAA0226_ENST00000273582.5_Missense_Mutation_p.K738N	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	783					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CATTCCAGATCTTAATGAGCA	0.522																																					Esophageal Squamous(3;167 355 3763 15924)												0													148.0	142.0	144.0					3																	197408081		2037	4222	6259	SO:0001583	missense	9711			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2349G>C	3.37:g.197408081C>G	ENSP00000296343:p.Lys783Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96CK5	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.K783N	ENST00000296343.5	37	c.2349	CCDS43195.1	3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	19.31|19.31|19.31	3.802260|3.802260|3.802260	0.70682|0.70682|0.70682	.|.|.	.|.|.	ENSG00000145016|ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665|ENST00000415452	.|.|.	.|.|.	.|.|.	4.55|4.55|4.55	4.55|4.55|4.55	0.56014|0.56014|0.56014	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.67192|0.67192|0.67192	0.2867|0.2867|0.2867	L|L|L	0.46741|0.46741|0.46741	1.465|1.465|1.465	0.58432|0.58432|0.58432	D|D|D	0.999996|0.999996|0.999996	.|D;B;D|.	.|0.89917|.	.|1.0;0.401;0.986|.	.|D;B;D|.	.|0.91635|.	.|0.999;0.322;0.923|.	T|T|T	0.64437|0.64437|0.64437	-0.6408|-0.6408|-0.6408	5|9|5	.|0.52906|.	.|T|.	.|0.07|.	.|.|.	16.8405|16.8405|16.8405	0.85967|0.85967|0.85967	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|808;738;783|.	.|Q92622-3;Q92622-2;Q92622|.	.|.;.;RUBIC_HUMAN|.	H|N|T	745|738;783;808|567	.|.|.	.|ENSP00000273582:K738N|.	D|K|R	-|-|-	1|3|2	0|2|0	KIAA0226|KIAA0226|KIAA0226	198892478|198892478|198892478	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	4.700000|4.700000|4.700000	0.61803|0.61803|0.61803	2.523000|2.523000|2.523000	0.85059|0.85059|0.85059	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	GAT|AAG|AGA	KIAA0226	-	NULL		0.522	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0226	HGNC	protein_coding	OTTHUMT00000340184.1	C	XM_032901		197408081	-1	no_errors	ENST00000296343	ensembl	human	known	70_37	missense	SNP	1.000	G
KIAA0226	9711	genome.wustl.edu	37	3	197408162	197408162	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:197408162C>G	ENST00000296343.5	-	16	2267	c.2268G>C	c.(2266-2268)atG>atC	p.M756I	KIAA0226_ENST00000389665.5_Missense_Mutation_p.M781I|KIAA0226_ENST00000273582.5_Missense_Mutation_p.M711I	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	756					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGGGGATGGCCATCTGGGCAT	0.522																																					Esophageal Squamous(3;167 355 3763 15924)												0													104.0	103.0	104.0					3																	197408162		2023	4206	6229	SO:0001583	missense	9711			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2268G>C	3.37:g.197408162C>G	ENSP00000296343:p.Met756Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96CK5	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.M756I	ENST00000296343.5	37	c.2268	CCDS43195.1	3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.84|11.84|11.84	1.758210|1.758210|1.758210	0.31137|0.31137|0.31137	.|.|.	.|.|.	ENSG00000145016|ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665|ENST00000415452	.|.|.	.|.|.	.|.|.	5.48|5.48|5.48	4.61|4.61|4.61	0.57282|0.57282|0.57282	.|.|.	.|0.289804|.	.|0.39475|.	.|N|.	.|0.001347|.	T|T|T	0.27697|0.27697|0.27697	0.0681|0.0681|0.0681	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.31713|0.31713|0.31713	N|N|N	0.63924|0.63924|0.63924	.|B;B;B|.	.|0.20550|.	.|0.046;0.0;0.034|.	.|B;B;B|.	.|0.23716|.	.|0.029;0.004;0.048|.	T|T|T	0.29427|0.29427|0.29427	-1.0012|-1.0012|-1.0012	5|9|5	.|0.30854|.	.|T|.	.|0.27|.	.|.|.	5.2495|5.2495|5.2495	0.15515|0.15515|0.15515	0.2713:0.5744:0.0:0.1543|0.2713:0.5744:0.0:0.1543|0.2713:0.5744:0.0:0.1543	.|.|.	.|781;711;756|.	.|Q92622-3;Q92622-2;Q92622|.	.|.;.;RUBIC_HUMAN|.	R|I|S	718|711;756;781|540	.|.|.	.|ENSP00000273582:M711I|.	G|M|W	-|-|-	1|3|2	0|0|0	KIAA0226|KIAA0226|KIAA0226	198892559|198892559|198892559	0.090000|0.090000|0.090000	0.21635|0.21635|0.21635	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.825000|0.825000|0.825000	0.46686|0.46686|0.46686	-0.381000|-0.381000|-0.381000	0.07417|0.07417|0.07417	1.465000|1.465000|1.465000	0.48006|0.48006|0.48006	-0.142000|-0.142000|-0.142000	0.14014|0.14014|0.14014	GGC|ATG|TGG	KIAA0226	-	NULL		0.522	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0226	HGNC	protein_coding	OTTHUMT00000340184.1	C	XM_032901		197408162	-1	no_errors	ENST00000296343	ensembl	human	known	70_37	missense	SNP	1.000	G
KIAA0226	9711	genome.wustl.edu	37	3	197410221	197410221	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:197410221G>A	ENST00000296343.5	-	13	1936	c.1937C>T	c.(1936-1938)tCg>tTg	p.S646L	KIAA0226_ENST00000389665.5_Missense_Mutation_p.S671L|KIAA0226_ENST00000273582.5_Missense_Mutation_p.S601L	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	646					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTCCAGCTCCGAGGCGGCTGG	0.617																																					Esophageal Squamous(3;167 355 3763 15924)												0													58.0	64.0	62.0					3																	197410221		1972	4151	6123	SO:0001583	missense	9711			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1937C>T	3.37:g.197410221G>A	ENSP00000296343:p.Ser646Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96CK5	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.S646L	ENST00000296343.5	37	c.1937	CCDS43195.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.117434|5.117434	0.94385|0.94385	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000415452|ENST00000273582;ENST00000296343;ENST00000389665	.|T;T;T	.|0.50813	.|0.73;0.73;0.73	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.68979|0.68979	0.3060|0.3060	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.997;1.0	.|D;D;D	.|0.91635	.|0.999;0.98;0.998	T|T	0.66069|0.66069	-0.6015|-0.6015	5|10	.|0.35671	.|T	.|0.21	.|.	19.3188|19.3188	0.94229|0.94229	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|671;601;646	.|Q92622-3;Q92622-2;Q92622	.|.;.;RUBIC_HUMAN	W|L	430|601;646;671	.|ENSP00000273582:S601L;ENSP00000296343:S646L;ENSP00000374316:S671L	.|ENSP00000273582:S601L	R|S	-|-	1|2	2|0	KIAA0226|KIAA0226	198894618|198894618	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.685000|0.685000	0.39939|0.39939	9.824000|9.824000	0.99380|0.99380	2.585000|2.585000	0.87301|0.87301	0.591000|0.591000	0.81541|0.81541	CGG|TCG	KIAA0226	-	NULL		0.617	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0226	HGNC	protein_coding	OTTHUMT00000340184.1	G	XM_032901		197410221	-1	no_errors	ENST00000296343	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA0232	9778	genome.wustl.edu	37	4	6863938	6863938	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:6863938C>G	ENST00000307659.5	+	7	2284	c.1829C>G	c.(1828-1830)tCt>tGt	p.S610C	KIAA0232_ENST00000425103.1_Missense_Mutation_p.S610C	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	610							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GGAGGAGACTCTCCAGTTAGA	0.493																																																	0													110.0	101.0	104.0					4																	6863938		1921	4147	6068	SO:0001583	missense	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.1829C>G	4.37:g.6863938C>G	ENSP00000303928:p.Ser610Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2D2	Missense_Mutation	SNP	NULL	p.S610C	ENST00000307659.5	37	c.1829	CCDS43209.1	4	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120116	0.56613	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.79287	0.4420	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.80551	-0.1332	9	0.87932	D	0	-18.9888	19.5863	0.95490	0.0:1.0:0.0:0.0	.	610	Q92628	K0232_HUMAN	C	610	.	ENSP00000303928:S610C	S	+	2	0	KIAA0232	6914839	1.000000	0.71417	0.983000	0.44433	0.783000	0.44284	5.511000	0.67024	2.621000	0.88768	0.655000	0.94253	TCT	KIAA0232	-	NULL		0.493	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	C	NM_014743		6863938	+1	no_errors	ENST00000307659	ensembl	human	known	70_37	missense	SNP	1.000	G
KIAA0247	9766	genome.wustl.edu	37	14	70171394	70171394	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:70171394C>T	ENST00000342745.4	+	4	706	c.393C>T	c.(391-393)ctC>ctT	p.L131L		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	131						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		CCGTGGCGCTCATTCTCCTCC	0.522																																																	0													84.0	68.0	74.0					14																	70171394		2203	4300	6503	SO:0001819	synonymous_variant	9766			D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.393C>T	14.37:g.70171394C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L131	ENST00000342745.4	37	c.393	CCDS9796.1	14																																																																																			KIAA0247	-	NULL		0.522	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0247	HGNC	protein_coding	OTTHUMT00000412453.1	C	NM_014734		70171394	+1	no_errors	ENST00000342745	ensembl	human	known	70_37	silent	SNP	1.000	T
KIAA0355	9710	genome.wustl.edu	37	19	34832880	34832880	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:34832880G>C	ENST00000299505.6	+	10	2914	c.2041G>C	c.(2041-2043)Gag>Cag	p.E681Q		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	681										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CATGGTGACTGAGCAGAAGGC	0.592																																																	0													62.0	66.0	64.0					19																	34832880		2203	4300	6503	SO:0001583	missense	9710				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2041G>C	19.37:g.34832880G>C	ENSP00000299505:p.Glu681Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3W4	Missense_Mutation	SNP	NULL	p.E681Q	ENST00000299505.6	37	c.2041	CCDS12436.1	19	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710102	0.89018	.	.	ENSG00000166398	ENST00000299505	T	0.22945	1.93	5.73	5.73	0.89815	.	0.053378	0.64402	D	0.000001	T	0.32645	0.0836	L	0.27053	0.805	0.80722	D	1	P	0.48162	0.906	P	0.51701	0.677	T	0.03706	-1.1011	10	0.87932	D	0	-18.7636	18.8873	0.92383	0.0:0.0:1.0:0.0	.	681	O15063	K0355_HUMAN	Q	681	ENSP00000299505:E681Q	ENSP00000299505:E681Q	E	+	1	0	KIAA0355	39524720	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.901000	0.92560	2.708000	0.92522	0.655000	0.94253	GAG	KIAA0355	-	NULL		0.592	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0355	HGNC	protein_coding	OTTHUMT00000451678.4	G	NM_014686		34832880	+1	no_errors	ENST00000299505	ensembl	human	known	70_37	missense	SNP	1.000	C
ICE1	23379	genome.wustl.edu	37	5	5457651	5457651	+	Missense_Mutation	SNP	G	G	C	rs371649815		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:5457651G>C	ENST00000296564.7	+	12	1120	c.898G>C	c.(898-900)Gag>Cag	p.E300Q		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		300					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGTTTTTAATGAGAATGGAAA	0.363																																																	0													103.0	101.0	101.0					5																	5457651		1884	4103	5987	SO:0001583	missense	23379																														ENST00000296564.7:c.898G>C	5.37:g.5457651G>C	ENSP00000296564:p.Glu300Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.E300Q	ENST00000296564.7	37	c.898	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550217	0.45383	.	.	ENSG00000164151	ENST00000296564	T	0.15603	2.41	4.85	3.94	0.45596	.	0.731266	0.12378	N	0.474129	T	0.21590	0.0520	L	0.32530	0.975	0.09310	N	1	D	0.57257	0.979	P	0.53518	0.728	T	0.08806	-1.0704	10	0.87932	D	0	-11.1658	7.8102	0.29226	0.1247:0.0:0.8753:0.0	.	300	Q9Y2F5	K0947_HUMAN	Q	300	ENSP00000296564:E300Q	ENSP00000296564:E300Q	E	+	1	0	KIAA0947	5510651	0.517000	0.26226	0.013000	0.15412	0.018000	0.09664	1.966000	0.40481	0.942000	0.37525	0.555000	0.69702	GAG	KIAA0947	-	NULL		0.363	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	G			5457651	+1	no_errors	ENST00000296564	ensembl	human	known	70_37	missense	SNP	0.067	C
ICE1	23379	genome.wustl.edu	37	5	5462697	5462697	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:5462697G>C	ENST00000296564.7	+	13	3472	c.3250G>C	c.(3250-3252)Gat>Cat	p.D1084H		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1084					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGAGACACAGGATACCTCCCA	0.483																																																	0													96.0	96.0	96.0					5																	5462697		1949	4150	6099	SO:0001583	missense	23379																														ENST00000296564.7:c.3250G>C	5.37:g.5462697G>C	ENSP00000296564:p.Asp1084His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.D1084H	ENST00000296564.7	37	c.3250	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	g	13.35	2.210995	0.39102	.	.	ENSG00000164151	ENST00000296564	T	0.09817	2.94	4.08	-0.0259	0.13933	.	2.179350	0.02449	N	0.085328	T	0.04952	0.0133	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32052	-0.9921	10	0.27785	T	0.31	0.8406	3.7742	0.08653	0.3204:0.1928:0.4867:0.0	.	1084	Q9Y2F5	K0947_HUMAN	H	1084	ENSP00000296564:D1084H	ENSP00000296564:D1084H	D	+	1	0	KIAA0947	5515697	0.000000	0.05858	0.000000	0.03702	0.471000	0.32888	-0.130000	0.10498	0.186000	0.20125	0.306000	0.20318	GAT	KIAA0947	-	NULL		0.483	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	G			5462697	+1	no_errors	ENST00000296564	ensembl	human	known	70_37	missense	SNP	0.000	C
KIAA1109	84162	genome.wustl.edu	37	4	123168401	123168401	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:123168401C>T	ENST00000264501.4	+	35	5774	c.5401C>T	c.(5401-5403)Cag>Tag	p.Q1801*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.Q1801*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.Q1801*			Q2LD37	K1109_HUMAN	KIAA1109	1801					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GATGCAGCCTCAGTCATCTGG	0.403																																																	0													93.0	88.0	89.0					4																	123168401		1888	4128	6016	SO:0001587	stop_gained	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5401C>T	4.37:g.123168401C>T	ENSP00000264501:p.Gln1801*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Nonsense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.Q1801*	ENST00000264501.4	37	c.5401	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	C	46	12.232974	0.99649	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	.	.	.	5.77	5.77	0.91146	.	0.000000	0.43416	U	0.000567	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	19.9913	0.97366	0.0:1.0:0.0:0.0	.	.	.	.	X	1801	.	ENSP00000264501:Q1801X	Q	+	1	0	KIAA1109	123387851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.737000	0.84957	2.734000	0.93682	0.585000	0.79938	CAG	KIAA1109	-	NULL		0.403	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	C	NM_020797		123168401	+1	no_errors	ENST00000264501	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KIAA1143	57456	genome.wustl.edu	37	3	44794861	44794861	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:44794861G>C	ENST00000296121.4	-	3	496	c.437C>G	c.(436-438)tCt>tGt	p.S146C	KIAA1143_ENST00000484437.1_5'UTR	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	146										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		GTTGTCAAAAGAAAGGAGGCT	0.299																																																	0													69.0	77.0	75.0					3																	44794861		2202	4295	6497	SO:0001583	missense	57456			AB032969	CCDS2721.1	3p21.31	2005-08-15			ENSG00000163807	ENSG00000163807			29198	protein-coding gene	gene with protein product						10574461	Standard	NM_020696		Approved		uc011bac.2	Q96AT1	OTTHUMG00000133088	ENST00000296121.4:c.437C>G	3.37:g.44794861G>C	ENSP00000296121:p.Ser146Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0I4|Q96HJ8|Q9ULS7	Missense_Mutation	SNP	NULL	p.S146C	ENST00000296121.4	37	c.437	CCDS2721.1	3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233652	0.79688	.	.	ENSG00000163807	ENST00000296121	T	0.74002	-0.8	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.88422	0.6432	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90260	0.4300	10	0.87932	D	0	-7.7777	18.6494	0.91425	0.0:0.0:1.0:0.0	.	146	Q96AT1	K1143_HUMAN	C	146	ENSP00000296121:S146C	ENSP00000296121:S146C	S	-	2	0	KIAA1143	44769865	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.672000	0.74477	2.565000	0.86533	0.460000	0.39030	TCT	KIAA1143	-	NULL		0.299	KIAA1143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1143	HGNC	protein_coding	OTTHUMT00000256746.1	G	NM_020696		44794861	-1	no_errors	ENST00000296121	ensembl	human	known	70_37	missense	SNP	1.000	C
KIAA1210	57481	genome.wustl.edu	37	X	118223212	118223212	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:118223212C>G	ENST00000402510.2	-	11	1980	c.1981G>C	c.(1981-1983)Gag>Cag	p.E661Q		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	661										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCTGTCTTCTCAGCTCCAGAA	0.488																																																	0													75.0	66.0	69.0					X																	118223212		1987	4144	6131	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1981G>C	X.37:g.118223212C>G	ENSP00000384670:p.Glu661Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.E661Q	ENST00000402510.2	37	c.1981	CCDS48156.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.09|14.09	2.432075|2.432075	0.43122|0.43122	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.11385|.	2.78|.	5.1|5.1	-9.46|-9.46	0.00597|0.00597	.|.	.|.	.|.	.|.	.|.	T|.	0.26919|.	0.0659|.	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B|.	0.18968|.	0.032|.	B|.	0.23419|.	0.046|.	T|.	0.33317|.	-0.9873|.	9|.	0.38643|.	T|.	0.18|.	.|.	13.0001|13.0001	0.58670|0.58670	0.0:0.1094:0.0954:0.7953|0.0:0.1094:0.0954:0.7953	.|.	661|.	Q9ULL0|.	K1210_HUMAN|.	Q|S	661|67	ENSP00000384670:E661Q|.	ENSP00000384670:E661Q|.	E|X	-|-	1|2	0|2	RP13-347D8.6|KIAA1210	118107240|118107240	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-4.417000|-4.417000	0.00237|0.00237	-2.068000|-2.068000	0.00884|0.00884	-0.182000|-0.182000	0.12963|0.12963	GAG|TGA	KIAA1210	-	NULL		0.488	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	C	NM_020721		118223212	-1	no_errors	ENST00000402510	ensembl	human	known	70_37	missense	SNP	0.000	G
NWD2	57495	genome.wustl.edu	37	4	37445470	37445470	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:37445470G>A	ENST00000309447.5	+	7	2708	c.1860G>A	c.(1858-1860)gtG>gtA	p.V620V		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		620	NACHT.									breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						TCAGGGAGGTGAGGCACTGGA	0.473																																																	0													146.0	115.0	125.0					4																	37445470		692	1591	2283	SO:0001819	synonymous_variant	57495																														ENST00000309447.5:c.1860G>A	4.37:g.37445470G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MRU1	Silent	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.V620	ENST00000309447.5	37	c.1860	CCDS47040.1	4																																																																																			KIAA1239	-	NULL		0.473	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	G			37445470	+1	no_errors	ENST00000309447	ensembl	human	known	70_37	silent	SNP	0.993	A
KIAA1211	57482	genome.wustl.edu	37	4	57179512	57179512	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:57179512G>C	ENST00000504228.1	+	5	609	c.504G>C	c.(502-504)caG>caC	p.Q168H	KIAA1211_ENST00000541073.1_Missense_Mutation_p.Q161H|KIAA1211_ENST00000264229.6_Missense_Mutation_p.Q168H			Q6ZU35	K1211_HUMAN	KIAA1211	168										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAAAAAAACAGAGGGTGTCAA	0.567																																																	0													84.0	92.0	90.0					4																	57179512		2032	4179	6211	SO:0001583	missense	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.504G>C	4.37:g.57179512G>C	ENSP00000423366:p.Gln168His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	NULL	p.Q168H	ENST00000504228.1	37	c.504	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297134	0.60086	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.39787	1.8;1.8;1.06	5.49	3.42	0.39159	.	.	.	.	.	T	0.64821	0.2633	M	0.81942	2.565	0.41114	D	0.985761	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.71724	-0.4506	9	0.87932	D	0	-42.1255	13.4224	0.61005	0.1489:0.0:0.8511:0.0	.	161;161;168	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	H	168;168;161;78	ENSP00000264229:Q168H;ENSP00000423366:Q168H;ENSP00000444006:Q161H	ENSP00000264229:Q168H	Q	+	3	2	KIAA1211	56874269	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.576000	0.60915	1.316000	0.45131	0.561000	0.74099	CAG	KIAA1211	-	NULL		0.567	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	G	NM_020722		57179512	+1	no_errors	ENST00000504228	ensembl	human	known	70_37	missense	SNP	1.000	C
KIAA1244	57221	genome.wustl.edu	37	6	138649264	138649264	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:138649264G>A	ENST00000251691.4	+	32	5274	c.5108G>A	c.(5107-5109)gGa>gAa	p.G1703E		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AAACCAAATGGACACACCAAG	0.428																																																	0													77.0	59.0	65.0					6																	138649264		2203	4299	6502	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5108G>A	6.37:g.138649264G>A	ENSP00000251691:p.Gly1703Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.G1703E	ENST00000251691.4	37	c.5108	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174562	0.57692	.	.	ENSG00000112379	ENST00000251691	T	0.17370	2.28	5.49	5.49	0.81192	.	0.174595	0.50627	D	0.000115	T	0.28267	0.0698	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00679	-1.1613	10	0.37606	T	0.19	-29.6234	19.3711	0.94488	0.0:0.0:1.0:0.0	.	1703	Q5TH69	BIG3_HUMAN	E	1703	ENSP00000251691:G1703E	ENSP00000251691:G1703E	G	+	2	0	KIAA1244	138690957	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.444000	0.97578	2.585000	0.87301	0.655000	0.94253	GGA	KIAA1244	-	NULL		0.428	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	G	NM_020340		138649264	+1	no_errors	ENST00000251691	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA1257	57501	genome.wustl.edu	37	3	128696936	128696936	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:128696936G>A	ENST00000265068.5	-	5	927	c.760C>T	c.(760-762)Ccg>Tcg	p.P254S	KIAA1257_ENST00000515659.1_Missense_Mutation_p.P142S|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.P254S	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	254										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TTTCCTGGCGGATGTTCCTGG	0.438																																																	0													191.0	187.0	188.0					3																	128696936		1956	4151	6107	SO:0001583	missense	57501			AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.760C>T	3.37:g.128696936G>A	ENSP00000265068:p.Pro254Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IXY7|Q8N5T4	Missense_Mutation	SNP	NULL	p.P254S	ENST00000265068.5	37	c.760	CCDS46905.1	3	.	.	.	.	.	.	.	.	.	.	G	6.849	0.525928	0.13066	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	3.23	1.35	0.21983	.	2.088450	0.02293	N	0.070461	T	0.28566	0.0707	N	0.14661	0.345	0.09310	N	1	B;B	0.29552	0.248;0.103	B;B	0.22386	0.039;0.039	T	0.26189	-1.0110	9	0.40728	T	0.16	0.2919	9.5758	0.39457	0.0:0.4952:0.5048:0.0	.	254;254	Q9ULG3;D6RH05	K1257_HUMAN;.	S	254;254;142	.	ENSP00000265068:P254S	P	-	1	0	KIAA1257	130179626	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.962000	0.00672	0.350000	0.24002	0.467000	0.42956	CCG	KIAA1257	-	NULL		0.438	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	KIAA1257	HGNC	protein_coding	OTTHUMT00000358430.1	G	NM_020741		128696936	-1	no_errors	ENST00000265068	ensembl	human	known	70_37	missense	SNP	0.000	A
KIAA1462	57608	genome.wustl.edu	37	10	30316395	30316395	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:30316395C>G	ENST00000375377.1	-	3	2783	c.2682G>C	c.(2680-2682)ccG>ccC	p.P894P		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	894					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCCACATCCTCGGCTGTGGCT	0.627																																																	0													60.0	65.0	64.0					10																	30316395		2092	4222	6314	SO:0001819	synonymous_variant	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2682G>C	10.37:g.30316395C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	NULL	p.P894	ENST00000375377.1	37	c.2682	CCDS41500.1	10																																																																																			KIAA1462	-	NULL		0.627	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	C	NM_020848		30316395	-1	no_errors	ENST00000375377	ensembl	human	known	70_37	silent	SNP	0.000	G
KIAA1468	57614	genome.wustl.edu	37	18	59928806	59928806	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:59928806G>C	ENST00000398130.2	+	16	2497	c.2265G>C	c.(2263-2265)ttG>ttC	p.L755F	KIAA1468_ENST00000256858.6_Missense_Mutation_p.L755F	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	755										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TGCAGTCCTTGATCCCATCTC	0.423																																																	0													226.0	164.0	185.0					18																	59928806		2203	4300	6503	SO:0001583	missense	57614			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.2265G>C	18.37:g.59928806G>C	ENSP00000381198:p.Leu755Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation	p.L755F	ENST00000398130.2	37	c.2265	CCDS11979.2	18	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247232	0.59103	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	M	0.64997	1.995	0.58432	D	0.999998	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.74674	0.975;0.984;0.967	T	0.74213	-0.3738	8	.	.	.	-7.1406	13.0628	0.59015	0.0735:0.0:0.9265:0.0	.	755;755;399	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	F	755	.	.	L	+	3	2	KIAA1468	58079786	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	2.348000	0.44045	2.676000	0.91093	0.585000	0.79938	TTG	KIAA1468	-	superfamily_ARM-type_fold		0.423	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1468	HGNC	protein_coding	OTTHUMT00000256187.1	G	NM_020854		59928806	+1	no_errors	ENST00000256858	ensembl	human	known	70_37	missense	SNP	1.000	C
KIAA1468	57614	genome.wustl.edu	37	18	59947665	59947665	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:59947665G>A	ENST00000398130.2	+	23	3272	c.3040G>A	c.(3040-3042)Gat>Aat	p.D1014N	KIAA1468_ENST00000256858.6_Intron	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1014										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CTTGTCCAGTGATCCTGAATT	0.408																																																	0													113.0	103.0	106.0					18																	59947665		2203	4300	6503	SO:0001583	missense	57614			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3040G>A	18.37:g.59947665G>A	ENSP00000381198:p.Asp1014Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation	p.D1014N	ENST00000398130.2	37	c.3040	CCDS11979.2	18	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801242	0.90538	.	.	ENSG00000134444	ENST00000398130	T	0.73789	-0.78	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86965	0.6060	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.85851	0.1404	9	.	.	.	.	20.1169	0.97940	0.0:0.0:1.0:0.0	.	1014	Q9P260	K1468_HUMAN	N	1014	ENSP00000381198:D1014N	.	D	+	1	0	KIAA1468	58098645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.673000	0.98631	2.835000	0.97688	0.591000	0.81541	GAT	KIAA1468	-	superfamily_ARM-type_fold,pfscan_HEAT_type_2		0.408	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1468	HGNC	protein_coding	OTTHUMT00000256187.1	G	NM_020854		59947665	+1	no_errors	ENST00000398130	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA1549	57670	genome.wustl.edu	37	7	138529164	138529164	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:138529164G>C	ENST00000422774.1	-	18	5398	c.5350C>G	c.(5350-5352)Cag>Gag	p.Q1784E	KIAA1549_ENST00000242365.4_Missense_Mutation_p.Q1734E|KIAA1549_ENST00000440172.1_Missense_Mutation_p.Q1784E			Q9HCM3	K1549_HUMAN	KIAA1549	1784						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGTGGCTGCTGAGGGTCAGGG	0.642			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													17.0	21.0	19.0					7																	138529164		1968	4143	6111	SO:0001583	missense	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5350C>G	7.37:g.138529164G>C	ENSP00000416040:p.Gln1784Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.Q1784E	ENST00000422774.1	37	c.5350	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	G	0.445	-0.896692	0.02472	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.22743	1.94;1.94;1.95	5.56	3.7	0.42460	.	0.714861	0.14602	N	0.309560	T	0.15478	0.0373	L	0.43152	1.355	0.09310	N	1	P;B;P;B	0.41848	0.651;0.034;0.763;0.034	B;B;B;B	0.35770	0.104;0.036;0.21;0.036	T	0.11251	-1.0595	10	0.02654	T	1	.	14.7276	0.69357	0.0:0.276:0.724:0.0	.	1784;568;1784;568	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	E	1784;1734;1784	ENSP00000406661:Q1784E;ENSP00000242365:Q1734E;ENSP00000416040:Q1784E	ENSP00000242365:Q1734E	Q	-	1	0	KIAA1549	138179704	0.777000	0.28628	0.005000	0.12908	0.087000	0.18053	2.505000	0.45424	0.678000	0.31325	0.650000	0.86243	CAG	KIAA1549	-	NULL		0.642	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	G			138529164	-1	no_errors	ENST00000422774	ensembl	human	known	70_37	missense	SNP	0.094	C
KIAA1644	85352	genome.wustl.edu	37	22	44681447	44681447	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:44681447G>C	ENST00000381176.4	-	4	592	c.460C>G	c.(460-462)Cgg>Ggg	p.R154G		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	154						integral component of membrane (GO:0016021)		p.R154W(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				CGAGGGGCCCGAGCGGGGTTC	0.687																																																	1	Substitution - Missense(1)	large_intestine(1)											43.0	47.0	46.0					22																	44681447		1887	4120	6007	SO:0001583	missense	85352			AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.460C>G	22.37:g.44681447G>C	ENSP00000370568:p.Arg154Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	NULL	p.R154G	ENST00000381176.4	37	c.460	CCDS43025.1	22	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408983	0.25378	.	.	ENSG00000138944	ENST00000381176	.	.	.	4.28	3.24	0.37175	.	0.651810	0.13564	N	0.378521	T	0.20820	0.0501	N	0.03608	-0.345	0.31951	N	0.609632	P	0.35226	0.491	B	0.32342	0.144	T	0.26360	-1.0105	8	0.72032	D	0.01	-14.4147	10.899	0.47040	0.0:0.0:0.7996:0.2004	.	154	Q3SXP7	K1644_HUMAN	G	154	.	ENSP00000370568:R154G	R	-	1	2	KIAA1644	43012780	1.000000	0.71417	0.947000	0.38551	0.264000	0.26372	2.294000	0.43567	0.889000	0.36185	0.561000	0.74099	CGG	KIAA1644	-	NULL		0.687	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1644	HGNC	protein_coding	OTTHUMT00000075879.2	G	NM_001099294		44681447	-1	no_errors	ENST00000381176	ensembl	human	putative	70_37	missense	SNP	0.998	C
KIAA1919	91749	genome.wustl.edu	37	6	111587259	111587259	+	Nonsense_Mutation	SNP	C	C	G	rs138228344	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:111587259C>G	ENST00000368847.4	+	4	847	c.494C>G	c.(493-495)tCa>tGa	p.S165*		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	165					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CTCAACCAATCATCTGATGCT	0.458																																																	0													93.0	84.0	87.0					6																	111587259		2203	4300	6503	SO:0001587	stop_gained	91749			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.494C>G	6.37:g.111587259C>G	ENSP00000357840:p.Ser165*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Nonsense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S165*	ENST00000368847.4	37	c.494	CCDS5090.1	6	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608034	0.87258	.	.	ENSG00000173214	ENST00000368847	.	.	.	5.85	5.85	0.93711	.	0.657283	0.15827	N	0.242707	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-19.4475	20.168	0.98156	0.0:1.0:0.0:0.0	.	.	.	.	X	165	.	ENSP00000357840:S165X	S	+	2	0	KIAA1919	111693952	0.012000	0.17670	0.097000	0.21041	0.017000	0.09413	1.671000	0.37513	2.774000	0.95407	0.643000	0.83706	TCA	KIAA1919	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.458	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1919	HGNC	protein_coding	OTTHUMT00000041827.1	C	NM_153369		111587259	+1	no_errors	ENST00000368847	ensembl	human	known	70_37	nonsense	SNP	0.568	G
KIDINS220	57498	genome.wustl.edu	37	2	8873633	8873633	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:8873633C>G	ENST00000256707.3	-	29	4175	c.3994G>C	c.(3994-3996)Gag>Cag	p.E1332Q	KIDINS220_ENST00000418530.1_Missense_Mutation_p.E1233Q|KIDINS220_ENST00000427284.1_Missense_Mutation_p.E1313Q|KIDINS220_ENST00000473731.1_Missense_Mutation_p.E1313Q	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1332					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGTTCAGCTCTTCGAAGCTG	0.527																																																	0													103.0	100.0	101.0					2																	8873633		1987	4167	6154	SO:0001583	missense	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3994G>C	2.37:g.8873633C>G	ENSP00000256707:p.Glu1332Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1332Q	ENST00000256707.3	37	c.3994	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000563	0.93227	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024	T;T;T;T;T;T	0.75050	0.27;-0.89;-0.9;-0.87;-0.9;-0.78	5.1	5.1	0.69264	.	0.166441	0.52532	D	0.000069	T	0.82240	0.4994	M	0.71581	2.175	0.58432	D	0.99999	B;B;B;P	0.37663	0.05;0.403;0.281;0.604	B;P;B;B	0.48488	0.166;0.579;0.375;0.433	D	0.84097	0.0393	10	0.87932	D	0	.	18.8618	0.92275	0.0:1.0:0.0:0.0	.	1276;1233;1332;186	E9PH70;Q9ULH0-2;Q9ULH0;B4DG84	.;.;KDIS_HUMAN;.	Q	1022;959;1332;1313;1233;1313;1276	ENSP00000420364:E1022Q;ENSP00000256707:E1332Q;ENSP00000411849:E1313Q;ENSP00000414923:E1233Q;ENSP00000418974:E1313Q;ENSP00000419964:E1276Q	ENSP00000256707:E1332Q	E	-	1	0	KIDINS220	8791084	1.000000	0.71417	0.918000	0.36340	0.924000	0.55760	7.407000	0.80029	2.531000	0.85337	0.591000	0.81541	GAG	KIDINS220	-	NULL		0.527	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	C	NM_020738		8873633	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	missense	SNP	1.000	G
KIF18A	81930	genome.wustl.edu	37	11	28104435	28104435	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:28104435C>T	ENST00000263181.6	-	9	1520	c.1230G>A	c.(1228-1230)atG>atA	p.M410I		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	410					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GGTTTGAAATCATTAACTTTG	0.264																																																	0													87.0	88.0	87.0					11																	28104435		2198	4293	6491	SO:0001583	missense	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1230G>A	11.37:g.28104435C>T	ENSP00000263181:p.Met410Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M410I	ENST00000263181.6	37	c.1230	CCDS7867.1	11	.	.	.	.	.	.	.	.	.	.	C	4.712	0.132315	0.08981	.	.	ENSG00000121621	ENST00000263181	T	0.71341	-0.56	5.43	2.45	0.29901	.	0.679936	0.14961	N	0.288350	T	0.45776	0.1359	N	0.14661	0.345	0.09310	N	1	B	0.23442	0.085	B	0.14023	0.01	T	0.24012	-1.0172	10	0.37606	T	0.19	.	2.0931	0.03661	0.1497:0.4828:0.1461:0.2214	.	410	Q8NI77	KI18A_HUMAN	I	410	ENSP00000263181:M410I	ENSP00000263181:M410I	M	-	3	0	KIF18A	28061011	0.000000	0.05858	0.686000	0.30086	0.480000	0.33159	-0.294000	0.08309	0.732000	0.32470	0.650000	0.86243	ATG	KIF18A	-	NULL		0.264	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF18A	HGNC	protein_coding	OTTHUMT00000388328.3	C	NM_031217		28104435	-1	no_errors	ENST00000263181	ensembl	human	known	70_37	missense	SNP	0.023	T
KIF1C	10749	genome.wustl.edu	37	17	4904074	4904074	+	Missense_Mutation	SNP	C	C	G	rs377337240		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:4904074C>G	ENST00000320785.5	+	4	471	c.114C>G	c.(112-114)atC>atG	p.I38M		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	38	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CAGCCATCATCAATCCTAAAC	0.547																																					Melanoma(96;1023 1447 10250 19259 33730)												0								C	MET/ILE	0,4406		0,0,2203	160.0	144.0	149.0		114	2.9	1.0	17		149	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF1C	NM_006612.5	10	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign	38/1104	4904074	1,13005	2203	4300	6503	SO:0001583	missense	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.114C>G	17.37:g.4904074C>G	ENSP00000320821:p.Ile38Met	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I38M	ENST00000320785.5	37	c.114	CCDS11065.1	17	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130173	0.37630	0.0	1.16E-4	ENSG00000129250	ENST00000320785	D	0.88818	-2.43	3.92	2.93	0.34026	Kinesin, motor domain (4);	.	.	.	.	T	0.80899	0.4712	N	0.25060	0.705	0.35863	D	0.827613	B	0.30686	0.29	B	0.32762	0.152	T	0.81346	-0.0974	9	0.51188	T	0.08	.	9.0456	0.36345	0.0:0.8859:0.0:0.1141	.	38	O43896	KIF1C_HUMAN	M	38	ENSP00000320821:I38M	ENSP00000320821:I38M	I	+	3	3	KIF1C	4844798	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.479000	0.06567	1.186000	0.42985	0.591000	0.81541	ATC	KIF1C	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.547	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	HGNC	protein_coding	OTTHUMT00000216916.1	C			4904074	+1	no_errors	ENST00000320785	ensembl	human	known	70_37	missense	SNP	1.000	G
KIF1C	10749	genome.wustl.edu	37	17	4916990	4916990	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:4916990G>C	ENST00000320785.5	+	17	1891	c.1534G>C	c.(1534-1536)Gag>Cag	p.E512Q		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	512					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TCTGATGTCTGAGTGTCTGCT	0.592																																					Melanoma(96;1023 1447 10250 19259 33730)												0													78.0	60.0	66.0					17																	4916990		2203	4300	6503	SO:0001583	missense	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1534G>C	17.37:g.4916990G>C	ENSP00000320821:p.Glu512Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E512Q	ENST00000320785.5	37	c.1534	CCDS11065.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.159093	0.94686	.	.	ENSG00000129250	ENST00000320785	T	0.77489	-1.1	5.44	5.44	0.79542	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	.	.	.	.	D	0.87676	0.6237	M	0.75884	2.315	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	D	0.88849	0.3318	9	0.87932	D	0	.	16.7561	0.85499	0.0:0.0:1.0:0.0	.	512	O43896	KIF1C_HUMAN	Q	512	ENSP00000320821:E512Q	ENSP00000320821:E512Q	E	+	1	0	KIF1C	4857714	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.869000	0.99810	2.550000	0.86006	0.462000	0.41574	GAG	KIF1C	-	superfamily_SMAD_FHA_domain		0.592	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	HGNC	protein_coding	OTTHUMT00000216916.1	G			4916990	+1	no_errors	ENST00000320785	ensembl	human	known	70_37	missense	SNP	1.000	C
KIF20A	10112	genome.wustl.edu	37	5	137518570	137518570	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:137518570G>A	ENST00000394894.3	+	7	949	c.723G>A	c.(721-723)ttG>ttA	p.L241L	KIF20A_ENST00000508792.1_Silent_p.L223L	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	241	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCACTTCCTTGAAGAGGAGTG	0.537																																																	0													67.0	64.0	65.0					5																	137518570		2203	4300	6503	SO:0001819	synonymous_variant	10112			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.723G>A	5.37:g.137518570G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DL79|D3DQB6	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L241	ENST00000394894.3	37	c.723	CCDS4199.1	5																																																																																			KIF20A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.537	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF20A	HGNC	protein_coding	OTTHUMT00000251272.1	G	NM_005733		137518570	+1	no_errors	ENST00000394894	ensembl	human	known	70_37	silent	SNP	1.000	A
KIF20B	9585	genome.wustl.edu	37	10	91532517	91532517	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:91532517C>G	ENST00000371728.3	+	32	5379	c.5314C>G	c.(5314-5316)Caa>Gaa	p.Q1772E	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.Q1732E|KIF20B_ENST00000416354.1_Missense_Mutation_p.Q1802E	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1772	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAATGTGTCTCAACCAAAACG	0.318																																																	0													116.0	113.0	114.0					10																	91532517		2203	4300	6503	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5314C>G	10.37:g.91532517C>G	ENSP00000360793:p.Gln1772Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q1802E	ENST00000371728.3	37	c.5404		10	.	.	.	.	.	.	.	.	.	.	C	9.568	1.120200	0.20877	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.41400	1.0;1.0;1.0	5.91	2.9	0.33743	.	0.664755	0.12585	N	0.456091	T	0.27798	0.0684	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.26547	0.092;0.152	B;B	0.25140	0.024;0.058	T	0.21484	-1.0244	10	0.62326	D	0.03	0.0056	6.8021	0.23756	0.4283:0.4912:0.0:0.0806	.	1772;1732	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	E	1732;1802;1772	ENSP00000260753:Q1732E;ENSP00000411545:Q1802E;ENSP00000360793:Q1772E	ENSP00000260753:Q1732E	Q	+	1	0	KIF20B	91522497	0.899000	0.30636	0.668000	0.29813	0.435000	0.31806	2.078000	0.41567	0.826000	0.34661	-0.182000	0.12963	CAA	KIF20B	-	NULL		0.318	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	C	NM_016195		91532517	+1	no_errors	ENST00000416354	ensembl	human	known	70_37	missense	SNP	0.054	G
KIF22	3835	genome.wustl.edu	37	16	29802097	29802097	+	Missense_Mutation	SNP	C	C	T	rs368873294		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:29802097C>T	ENST00000160827.4	+	1	57	c.17C>T	c.(16-18)tCg>tTg	p.S6L	KIF22_ENST00000400751.5_5'Flank|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000561482.1_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	6					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GCGGGCGGCTCGACGCAGCAG	0.672																																																	0								C	LEU/SER	2,4336		0,2,2167	12.0	18.0	16.0		17	-1.5	0.0	16		16	0,8564		0,0,4282	no	missense	KIF22	NM_007317.1	145	0,2,6449	TT,TC,CC		0.0,0.0461,0.0155	benign	6/666	29802097	2,12900	2169	4282	6451	SO:0001583	missense	3835			D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.17C>T	16.37:g.29802097C>T	ENSP00000160827:p.Ser6Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.S6L	ENST00000160827.4	37	c.17	CCDS10653.1	16	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030843	0.35797	4.61E-4	0.0	ENSG00000079616	ENST00000160827	T	0.73047	-0.71	4.31	-1.55	0.08558	.	.	.	.	.	T	0.43700	0.1259	N	0.08118	0	0.20196	N	0.999927	B	0.02656	0.0	B	0.01281	0.0	T	0.27297	-1.0078	9	0.59425	D	0.04	.	2.5885	0.04837	0.2943:0.3273:0.2871:0.0913	.	6	Q14807	KIF22_HUMAN	L	6	ENSP00000160827:S6L	ENSP00000160827:S6L	S	+	2	0	KIF22	29709598	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.124000	0.10595	-0.196000	0.10366	-0.169000	0.13324	TCG	KIF22	-	NULL		0.672	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF22	HGNC	protein_coding	OTTHUMT00000215012.2	C			29802097	+1	no_errors	ENST00000160827	ensembl	human	known	70_37	missense	SNP	0.000	T
KIF22	3835	genome.wustl.edu	37	16	29816249	29816249	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:29816249G>C	ENST00000160827.4	+	12	1832	c.1792G>C	c.(1792-1794)Gaa>Caa	p.E598Q	MAZ_ENST00000562337.1_5'Flank|MAZ_ENST00000219782.6_5'Flank|KIF22_ENST00000400751.5_Missense_Mutation_p.E530Q|MAZ_ENST00000322945.6_5'Flank|KIF22_ENST00000569382.2_Missense_Mutation_p.E544Q|MAZ_ENST00000545521.1_5'Flank|MAZ_ENST00000566906.2_5'Flank|MAZ_ENST00000563402.1_5'Flank|AC009133.15_ENST00000566537.1_RNA|KIF22_ENST00000561482.1_Missense_Mutation_p.E530Q	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	598					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TCTGCTGAACGAAGGCTCAGC	0.612																																																	0													46.0	46.0	46.0					16																	29816249		2197	4296	6493	SO:0001583	missense	3835			D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1792G>C	16.37:g.29816249G>C	ENSP00000160827:p.Glu598Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.E598Q	ENST00000160827.4	37	c.1792	CCDS10653.1	16	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770610	0.31320	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.73789	-0.7;-0.78	5.5	-0.636	0.11508	.	.	.	.	.	T	0.43277	0.1240	N	0.03000	-0.44	0.09310	N	0.999992	B;B	0.29766	0.07;0.256	B;B	0.25140	0.042;0.058	T	0.31251	-0.9950	9	0.31617	T	0.26	.	4.7065	0.12853	0.5235:0.1698:0.3067:0.0	.	530;598	B7Z265;Q14807	.;KIF22_HUMAN	Q	598;530	ENSP00000160827:E598Q;ENSP00000383562:E530Q	ENSP00000160827:E598Q	E	+	1	0	KIF22	29723750	0.004000	0.15560	0.213000	0.23690	0.927000	0.56198	0.233000	0.17911	0.230000	0.21059	0.561000	0.74099	GAA	KIF22	-	superfamily_RuvA_2-like		0.612	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF22	HGNC	protein_coding	OTTHUMT00000215012.2	G			29816249	+1	no_errors	ENST00000160827	ensembl	human	known	70_37	missense	SNP	0.022	C
KIF25	3834	genome.wustl.edu	37	6	168396547	168396547	+	IGR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:168396547C>T	ENST00000515361.1	+	0	0				KIF25-AS1_ENST00000456585.1_lincRNA			Q9UIL4	KIF25_HUMAN	kinesin family member 25						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		tgcaggtcctcgggcctgggg	0.612																																																	0													44.0	42.0	42.0					6																	168396547		692	1590	2282	SO:0001628	intergenic_variant	100505879			AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035		6.37:g.168396547C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O94775|Q5SZU9	RNA	SNP	-	NULL	ENST00000515361.1	37	NULL		6																																																																																			KIF25-AS1	-	-		0.612	KIF25-006	KNOWN	basic	processed_transcript	KIF25-AS1	HGNC	protein_coding	OTTHUMT00000362511.1	C			168396547	-1	no_errors	ENST00000414364	ensembl	human	known	70_37	rna	SNP	0.001	T
KIF26B	55083	genome.wustl.edu	37	1	245850330	245850330	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:245850330G>A	ENST00000407071.2	+	12	4485	c.4045G>A	c.(4045-4047)Gac>Aac	p.D1349N	KIF26B_ENST00000366518.4_Missense_Mutation_p.D968N	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1349					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GATGGGAGATGACTCTTTCAA	0.552																																																	0													55.0	61.0	59.0					1																	245850330		2064	4223	6287	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4045G>A	1.37:g.245850330G>A	ENSP00000385545:p.Asp1349Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D1349N	ENST00000407071.2	37	c.4045	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	7.826	0.718800	0.15372	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.78924	-1.22;-1.22	5.82	5.82	0.92795	.	.	.	.	.	T	0.68412	0.2998	L	0.46157	1.445	0.09310	N	0.999996	B;B	0.32245	0.361;0.181	B;B	0.24155	0.051;0.051	T	0.57957	-0.7721	9	0.23891	T	0.37	.	11.3288	0.49465	0.0694:0.1285:0.8022:0.0	.	968;1349	B7WPD9;Q2KJY2	.;KI26B_HUMAN	N	1349;968;965	ENSP00000385545:D1349N;ENSP00000355475:D968N	ENSP00000355475:D968N	D	+	1	0	KIF26B	243916953	0.928000	0.31464	0.089000	0.20774	0.017000	0.09413	2.427000	0.44740	2.756000	0.94617	0.561000	0.74099	GAC	KIF26B	-	NULL		0.552	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	G	XM_371354		245850330	+1	no_errors	ENST00000407071	ensembl	human	known	70_37	missense	SNP	0.256	A
KIF4A	24137	genome.wustl.edu	37	X	69625690	69625690	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:69625690G>C	ENST00000374403.3	+	26	2993	c.2911G>C	c.(2911-2913)Gag>Cag	p.E971Q	KIF4A_ENST00000374388.3_Missense_Mutation_p.E971Q	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	971	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TGAAGAACTTGAGAAAATGCG	0.408																																																	0													88.0	75.0	79.0					X																	69625690		2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2911G>C	X.37:g.69625690G>C	ENSP00000363524:p.Glu971Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E971Q	ENST00000374403.3	37	c.2911	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768747	0.31320	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.70749	-0.49;-0.51	4.45	3.48	0.39840	.	0.233674	0.29579	N	0.011747	T	0.56775	0.2008	L	0.42245	1.32	0.38725	D	0.953538	B	0.18013	0.025	B	0.10450	0.005	T	0.49437	-0.8940	9	.	.	.	.	6.2921	0.21065	0.1922:0.0:0.8078:0.0	.	971	O95239	KIF4A_HUMAN	Q	971;971;273	ENSP00000363509:E971Q;ENSP00000363524:E971Q	.	E	+	1	0	KIF4A	69542415	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.787000	0.55439	0.685000	0.31468	0.600000	0.82982	GAG	KIF4A	-	NULL		0.408	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	G	NM_012310		69625690	+1	no_errors	ENST00000374403	ensembl	human	known	70_37	missense	SNP	1.000	C
KIF5C	3800	genome.wustl.edu	37	2	149837962	149837962	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:149837962G>C	ENST00000435030.1	+	14	1824	c.1456G>C	c.(1456-1458)Gaa>Caa	p.E486Q	KIF5C_ENST00000397413.1_Missense_Mutation_p.E254Q|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.E391Q			O60282	KIF5C_HUMAN	kinesin family member 5C	486					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TGAGGTGAAAGAAGTTCTCCA	0.507																																																	0													47.0	50.0	49.0					2																	149837962		2122	4273	6395	SO:0001583	missense	3800			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1456G>C	2.37:g.149837962G>C	ENSP00000393379:p.Glu486Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O95079|Q2YDC5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E486Q	ENST00000435030.1	37	c.1456		2	.	.	.	.	.	.	.	.	.	.	G	32	5.123479	0.94429	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.83591	-1.74;-1.74;-1.74	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.91758	0.7393	.	.	.	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.984;0.999	D	0.91887	0.5520	9	0.62326	D	0.03	.	19.3716	0.94490	0.0:0.0:1.0:0.0	.	486;52	O60282;Q3LIE3	KIF5C_HUMAN;.	Q	486;391;389;254	ENSP00000393379:E486Q;ENSP00000410115:E391Q;ENSP00000380560:E254Q	ENSP00000334176:E389Q	E	+	1	0	KIF5C	149546208	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.805000	0.96524	0.655000	0.94253	GAA	KIF5C	-	NULL		0.507	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	G	NM_004522		149837962	+1	no_errors	ENST00000435030	ensembl	human	known	70_37	missense	SNP	1.000	C
KIF5C	3800	genome.wustl.edu	37	2	149838030	149838030	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:149838030G>T	ENST00000435030.1	+	14	1892	c.1524G>T	c.(1522-1524)aaG>aaT	p.K508N	KIF5C_ENST00000397413.1_Missense_Mutation_p.K276N|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.K413N			O60282	KIF5C_HUMAN	kinesin family member 5C	508					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TGGAGGATAAGACCCGGGCCA	0.537																																																	0													35.0	39.0	37.0					2																	149838030		2106	4252	6358	SO:0001583	missense	3800			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1524G>T	2.37:g.149838030G>T	ENSP00000393379:p.Lys508Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O95079|Q2YDC5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K508N	ENST00000435030.1	37	c.1524		2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182809	0.78677	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.81996	-1.56;-1.56;-1.56	5.4	5.4	0.78164	.	0.163219	0.53938	D	0.000050	D	0.82305	0.5008	.	.	.	0.50039	D	0.999849	B;P	0.48998	0.246;0.918	B;P	0.48952	0.157;0.596	T	0.79579	-0.1745	9	0.30078	T	0.28	.	13.0597	0.59000	0.0827:0.0:0.9173:0.0	.	508;74	O60282;Q3LIE3	KIF5C_HUMAN;.	N	508;413;411;276	ENSP00000393379:K508N;ENSP00000410115:K413N;ENSP00000380560:K276N	ENSP00000334176:K411N	K	+	3	2	KIF5C	149546276	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.662000	0.46766	2.805000	0.96524	0.655000	0.94253	AAG	KIF5C	-	NULL		0.537	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	G	NM_004522		149838030	+1	no_errors	ENST00000435030	ensembl	human	known	70_37	missense	SNP	1.000	T
KIF5C	3800	genome.wustl.edu	37	2	149838051	149838051	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:149838051G>A	ENST00000435030.1	+	14	1913	c.1545G>A	c.(1543-1545)ctG>ctA	p.L515L	KIF5C_ENST00000397413.1_Silent_p.L283L|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.L420L			O60282	KIF5C_HUMAN	kinesin family member 5C	515					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ATGAGCAGCTGACAGACGAGC	0.512																																																	0													30.0	34.0	33.0					2																	149838051		2081	4236	6317	SO:0001819	synonymous_variant	3800			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1545G>A	2.37:g.149838051G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95079|Q2YDC5	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L515	ENST00000435030.1	37	c.1545		2																																																																																			KIF5C	-	NULL		0.512	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	G	NM_004522		149838051	+1	no_errors	ENST00000435030	ensembl	human	known	70_37	silent	SNP	1.000	A
KIF7	374654	genome.wustl.edu	37	15	90190196	90190196	+	Silent	SNP	C	C	T	rs534492655		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:90190196C>T	ENST00000394412.3	-	7	1729	c.1653G>A	c.(1651-1653)ctG>ctA	p.L551L		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	551	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GCAGGCCATTCAGGAGCCGCG	0.701											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	1	0.000199681	0.0	0.0014	5008	,	,		13224	0.0		0.0	False		,,,				2504	0.0																0													18.0	22.0	21.0					15																	90190196		2198	4296	6494	SO:0001819	synonymous_variant	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1653G>A	15.37:g.90190196C>T		Somatic	1273	WXS	Illumina HiSeq	Phase_IV	Q3SXY0|Q6UXE9|Q8IW72	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L551	ENST00000394412.3	37	c.1653	CCDS32325.2	15																																																																																			KIF7	-	NULL		0.701	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	C	NM_198525		90190196	-1	no_errors	ENST00000394412	ensembl	human	known	70_37	silent	SNP	1.000	T
KIF7	374654	genome.wustl.edu	37	15	90192361	90192361	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:90192361G>C	ENST00000394412.3	-	4	843	c.767C>G	c.(766-768)tCa>tGa	p.S256*		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	256	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CACCCTCTCTGAGCCCGCCAG	0.706																																																	0													9.0	13.0	12.0					15																	90192361		684	1585	2269	SO:0001587	stop_gained	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.767C>G	15.37:g.90192361G>C	ENSP00000377934:p.Ser256*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SXY0|Q6UXE9|Q8IW72	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S256*	ENST00000394412.3	37	c.767	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	g	37	6.314610	0.97467	.	.	ENSG00000166813	ENST00000394412	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1553	0.86790	0.0:0.0:1.0:0.0	.	.	.	.	X	256	.	ENSP00000377934:S256X	S	-	2	0	KIF7	87993365	1.000000	0.71417	0.932000	0.37286	0.992000	0.81027	9.443000	0.97568	2.205000	0.71048	0.651000	0.88453	TCA	KIF7	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.706	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	G	NM_198525		90192361	-1	no_errors	ENST00000394412	ensembl	human	known	70_37	nonsense	SNP	1.000	C
KIFC3	3801	genome.wustl.edu	37	16	57806156	57806156	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:57806156C>G	ENST00000379655.4	-	4	617	c.360G>C	c.(358-360)gtG>gtC	p.V120V	KIFC3_ENST00000421376.2_5'UTR|KIFC3_ENST00000445690.2_Silent_p.V120V|KIFC3_ENST00000566975.1_5'UTR|KIFC3_ENST00000562903.1_5'UTR|KIFC3_ENST00000543930.1_5'UTR|KIFC3_ENST00000541240.1_Silent_p.V142V|KIFC3_ENST00000540079.2_Silent_p.V18V|KIFC3_ENST00000465878.2_5'UTR|KIFC3_ENST00000539578.1_Silent_p.V62V	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	120					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GCAGTCGGCTCACTTCCTGGG	0.632																																																	0													138.0	110.0	120.0					16																	57806156		2198	4300	6498	SO:0001819	synonymous_variant	3801			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.360G>C	16.37:g.57806156C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V120	ENST00000379655.4	37	c.360	CCDS10789.2	16																																																																																			KIFC3	-	NULL		0.632	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIFC3	HGNC	protein_coding	OTTHUMT00000257329.2	C	NM_005550		57806156	-1	no_errors	ENST00000379655	ensembl	human	known	70_37	silent	SNP	1.000	G
KIR2DL3	3804	genome.wustl.edu	37	19	55263963	55263963	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:55263963G>C	ENST00000342376.3	+	8	1049	c.1018G>C	c.(1018-1020)Gag>Cag	p.E340Q	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	340					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TCCAAATGCTGAGCCCTGATC	0.517																																																	0													227.0	234.0	232.0					19																	55263963		2007	4009	6016	SO:0001583	missense	3804			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.1018G>C	19.37:g.55263963G>C	ENSP00000342215:p.Glu340Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.E340Q	ENST00000342376.3	37	c.1018	CCDS33107.1	19	.	.	.	.	.	.	.	.	.	.	g	4.512	0.094932	0.08681	.	.	ENSG00000243772	ENST00000342376	T	0.00477	7.14	0.909	-1.82	0.07857	.	.	.	.	.	T	0.01061	0.0035	M	0.86178	2.8	0.09310	N	1	D;P;P	0.54772	0.968;0.484;0.484	P;B;B	0.59546	0.859;0.424;0.424	T	0.21177	-1.0253	9	0.87932	D	0	.	6.337	0.21302	0.5547:0.0:0.4453:0.0	.	242;340;340	P43628-2;P43628;E3NZD8	.;KI2L3_HUMAN;.	Q	340	ENSP00000342215:E340Q	ENSP00000342215:E340Q	E	+	1	0	KIR2DL3	59955775	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.122000	0.03267	-2.079000	0.00871	-2.194000	0.00310	GAG	KIR2DL3	-	NULL		0.517	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	KIR2DL3	HGNC	protein_coding	OTTHUMT00000141150.1	G			55263963	+1	no_errors	ENST00000342376	ensembl	human	known	70_37	missense	SNP	0.000	C
KLC2	64837	genome.wustl.edu	37	11	66033433	66033433	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:66033433C>T	ENST00000417856.1	+	13	1795	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	KLC2_ENST00000421552.1_Missense_Mutation_p.R441W|KLC2_ENST00000394067.2_Missense_Mutation_p.R518W|RAB1B_ENST00000527397.1_5'Flank|KLC2_ENST00000394066.2_Missense_Mutation_p.R441W|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394078.1_Intron|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000394065.2_Missense_Mutation_p.R379W|KLC2_ENST00000316924.5_Missense_Mutation_p.R518W|RP11-867G23.1_ENST00000530805.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	518					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TGCCGGGCCTCGGTCTGAGTC	0.687																																																	0													37.0	43.0	41.0					11																	66033433		2199	4292	6491	SO:0001583	missense	64837			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1552C>T	11.37:g.66033433C>T	ENSP00000399403:p.Arg518Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.R518W	ENST00000417856.1	37	c.1552	CCDS8130.1	11	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387188	0.42308	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	T;T;T;T;T;D	0.84146	-1.17;-1.17;-1.17;-1.17;-1.17;-1.81	3.71	3.71	0.42584	.	0.574882	0.15913	N	0.238511	T	0.75019	0.3793	N	0.08118	0	0.39239	D	0.963822	B;B;P	0.52463	0.004;0.006;0.953	B;B;P	0.44860	0.002;0.001;0.462	T	0.81019	-0.1122	10	0.66056	D	0.02	-17.0649	14.3923	0.66989	0.0:1.0:0.0:0.0	.	379;441;518	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	W	518;518;518;441;441;379	ENSP00000399403:R518W;ENSP00000377631:R518W;ENSP00000314837:R518W;ENSP00000408484:R441W;ENSP00000377630:R441W;ENSP00000377629:R379W	ENSP00000314837:R518W	R	+	1	2	KLC2	65790009	0.633000	0.27181	0.998000	0.56505	0.361000	0.29550	1.653000	0.37323	1.901000	0.55032	0.491000	0.48974	CGG	KLC2	-	NULL		0.687	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	HGNC	protein_coding	OTTHUMT00000258200.1	C	NM_022822		66033433	+1	no_errors	ENST00000316924	ensembl	human	known	70_37	missense	SNP	1.000	T
KLHL15	80311	genome.wustl.edu	37	X	24006133	24006133	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:24006133C>T	ENST00000328046.8	-	4	1975	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	574					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CGAGGGTACTCATCTTCCTTC	0.448																																																	0													148.0	121.0	130.0					X																	24006133		2203	4300	6503	SO:0001583	missense	80311			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1720G>A	X.37:g.24006133C>T	ENSP00000332791:p.Glu574Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E574K	ENST00000328046.8	37	c.1720	CCDS35217.1	X	.	.	.	.	.	.	.	.	.	.	C	7.852	0.724180	0.15439	.	.	ENSG00000174010	ENST00000328046	T	0.74106	-0.81	5.94	5.94	0.96194	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	N	0.19112	0.55	0.80722	D	1	B	0.31318	0.319	B	0.18871	0.023	T	0.59700	-0.7405	10	0.05833	T	0.94	.	19.2359	0.93858	0.0:1.0:0.0:0.0	.	574	Q96M94	KLH15_HUMAN	K	574	ENSP00000332791:E574K	ENSP00000332791:E574K	E	-	1	0	KLHL15	23916054	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.494000	0.84150	0.506000	0.49869	GAG	KLHL15	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.448	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL15	HGNC	protein_coding	OTTHUMT00000056078.1	C	XM_040383		24006133	-1	no_errors	ENST00000328046	ensembl	human	known	70_37	missense	SNP	1.000	T
KLHL3	26249	genome.wustl.edu	37	5	136964039	136964039	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:136964039C>T	ENST00000309755.4	-	13	1981	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E	KLHL3_ENST00000506491.1_Missense_Mutation_p.G431E|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000508657.1_Missense_Mutation_p.G481E|KLHL3_ENST00000541417.1_3'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	513					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GGTATTTGTTCCAGGATCGTA	0.547																																																	0													255.0	217.0	230.0					5																	136964039		2203	4300	6503	SO:0001583	missense	26249			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1538G>A	5.37:g.136964039C>T	ENSP00000312397:p.Gly513Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G513E	ENST00000309755.4	37	c.1538	CCDS4192.1	5	.	.	.	.	.	.	.	.	.	.	C	5.468	0.271398	0.10349	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755	T;T;T	0.75260	-0.92;-0.92;-0.92	5.65	5.65	0.86999	Galactose oxidase, beta-propeller (1);	0.291833	0.38837	N	0.001553	T	0.37404	0.1002	N	0.00202	-1.86	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.52801	-0.8527	10	0.09084	T	0.74	.	15.3988	0.74818	0.0:0.8616:0.1384:0.0	.	248;513	B7Z6E2;Q9UH77	.;KLHL3_HUMAN	E	431;481;513	ENSP00000424828:G431E;ENSP00000422099:G481E;ENSP00000312397:G513E	ENSP00000312397:G513E	G	-	2	0	KLHL3	136991938	0.992000	0.36948	1.000000	0.80357	0.992000	0.81027	2.550000	0.45811	2.941000	0.99782	0.655000	0.94253	GGA	KLHL3	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.547	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL3	HGNC	protein_coding	OTTHUMT00000251220.2	C			136964039	-1	no_errors	ENST00000309755	ensembl	human	known	70_37	missense	SNP	0.845	T
KLHL6	89857	genome.wustl.edu	37	3	183273245	183273245	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:183273245C>T	ENST00000341319.3	-	1	232	c.197G>A	c.(196-198)cGa>cAa	p.R66Q		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	66					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTTTTCCATTCGCAGGGTTTC	0.493																																																	0													138.0	135.0	136.0					3																	183273245		2203	4300	6503	SO:0001583	missense	89857			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.197G>A	3.37:g.183273245C>T	ENSP00000341342:p.Arg66Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R66Q	ENST00000341319.3	37	c.197	CCDS3245.2	3	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431958	0.83776	.	.	ENSG00000172578	ENST00000341319	T	0.73152	-0.72	5.56	5.56	0.83823	BTB/POZ (1);BTB/POZ fold (2);	0.064498	0.64402	D	0.000007	T	0.81805	0.4900	M	0.72353	2.195	0.45528	D	0.998485	D	0.56746	0.977	P	0.57468	0.821	D	0.83402	0.0023	10	0.72032	D	0.01	.	19.5245	0.95199	0.0:1.0:0.0:0.0	.	66	Q8WZ60	KLHL6_HUMAN	Q	66	ENSP00000341342:R66Q	ENSP00000341342:R66Q	R	-	2	0	KLHL6	184755939	0.997000	0.39634	0.517000	0.27799	0.408000	0.30992	6.279000	0.72620	2.608000	0.88229	0.655000	0.94253	CGA	KLHL6	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin		0.493	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	HGNC	protein_coding	OTTHUMT00000309024.1	C	NM_130446		183273245	-1	no_errors	ENST00000341319	ensembl	human	known	70_37	missense	SNP	0.668	T
KLHL8	57563	genome.wustl.edu	37	4	88099767	88099767	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:88099767G>C	ENST00000273963.5	-	5	1299	c.958C>G	c.(958-960)Ctg>Gtg	p.L320V	KLHL8_ENST00000545252.1_5'UTR|KLHL8_ENST00000425278.2_Missense_Mutation_p.L137V|KLHL8_ENST00000498875.2_Missense_Mutation_p.L244V|KLHL8_ENST00000512111.1_Missense_Mutation_p.L320V	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	320					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ACACAAAACAGCACACCTAAA	0.368																																																	0													77.0	70.0	72.0					4																	88099767		2203	4300	6503	SO:0001583	missense	57563			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.958C>G	4.37:g.88099767G>C	ENSP00000273963:p.Leu320Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XA3|Q6N018	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L320V	ENST00000273963.5	37	c.958	CCDS3617.1	4	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783052	0.70222	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000512111	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.57	4.72	0.59763	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	L	0.33753	1.03	0.80722	D	1	D;D;D	0.69078	0.966;0.997;0.994	P;D;P	0.63381	0.695;0.914;0.873	T	0.81600	-0.0859	10	0.62326	D	0.03	.	13.8539	0.63515	0.0734:0.0:0.9266:0.0	.	137;244;320	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	V	320;244;137;320	ENSP00000273963:L320V;ENSP00000426451:L244V;ENSP00000408854:L137V;ENSP00000424131:L320V	ENSP00000273963:L320V	L	-	1	2	KLHL8	88318791	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.182000	0.50910	2.629000	0.89072	0.591000	0.81541	CTG	KLHL8	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.368	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL8	HGNC	protein_coding	OTTHUMT00000253040.1	G			88099767	-1	no_errors	ENST00000273963	ensembl	human	known	70_37	missense	SNP	1.000	C
KLK3	354	genome.wustl.edu	37	19	51361728	51361728	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:51361728G>C	ENST00000326003.2	+	4	548	c.507G>C	c.(505-507)aaG>aaC	p.K169N	KLK3_ENST00000360617.3_Missense_Mutation_p.K169N|KLK3_ENST00000595952.1_Missense_Mutation_p.K126N|KLK3_ENST00000597483.1_Missense_Mutation_p.K126N|KLK3_ENST00000593997.1_Missense_Mutation_p.K169N	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	169	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TGACCCCAAAGAAACTTCAGT	0.552																																					Colon(185;1767 2023 13025 30120 37630)												0													204.0	178.0	187.0					19																	51361728		2203	4300	6503	SO:0001583	missense	354			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.507G>C	19.37:g.51361728G>C	ENSP00000314151:p.Lys169Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.K169N	ENST00000326003.2	37	c.507	CCDS12807.1	19	.	.	.	.	.	.	.	.	.	.	G	3.676	-0.066580	0.07273	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617;ENST00000326052	D;D	0.88586	-2.4;-2.4	2.89	-4.28	0.03732	.	0.860837	0.09648	N	0.773970	T	0.71813	0.3384	N	0.04880	-0.145	0.09310	N	1	B;B;B	0.13145	0.005;0.007;0.004	B;B;B	0.15870	0.014;0.007;0.008	T	0.59053	-0.7526	10	0.51188	T	0.08	.	5.27	0.15620	0.0:0.4043:0.2591:0.3366	.	128;169;126	Q8NCW4;G3XAE3;G3V0H4	.;.;.	N	169;126;169;128	ENSP00000314151:K169N;ENSP00000353829:K169N	ENSP00000314151:K169N	K	+	3	2	KLK3	56053540	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-4.489000	0.00226	-0.409000	0.07553	0.400000	0.26472	AAG	KLK3	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.552	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK3	HGNC	protein_coding	OTTHUMT00000464067.1	G	NM_145864		51361728	+1	no_errors	ENST00000326003	ensembl	human	known	70_37	missense	SNP	0.000	C
KPNA1	3836	genome.wustl.edu	37	3	122186234	122186234	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:122186234C>G	ENST00000344337.6	-	3	348	c.172G>C	c.(172-174)Gaa>Caa	p.E58Q		NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	58					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		ACTTCTTCTTCTGTTTCTTCT	0.363																																					Melanoma(12;340 801 11196 19797)												0													171.0	158.0	162.0					3																	122186234		2202	4300	6502	SO:0001583	missense	3836			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.172G>C	3.37:g.122186234C>G	ENSP00000343701:p.Glu58Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.E58Q	ENST00000344337.6	37	c.172	CCDS3013.1	3	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711751	0.68730	.	.	ENSG00000114030	ENST00000344337;ENST00000465882;ENST00000482287;ENST00000476916;ENST00000493510	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	4.56	4.56	0.56223	Importin-alpha, importin-beta-binding domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.453686	0.23033	N	0.052703	T	0.39835	0.1093	L	0.56199	1.76	0.58432	D	0.999997	B	0.30889	0.299	B	0.34093	0.175	T	0.17930	-1.0353	10	0.18276	T	0.48	-11.9303	14.8756	0.70491	0.0:1.0:0.0:0.0	.	58	P52294	IMA1_HUMAN	Q	58	ENSP00000343701:E58Q;ENSP00000419890:E58Q;ENSP00000417166:E58Q;ENSP00000417319:E58Q;ENSP00000419257:E58Q	ENSP00000343701:E58Q	E	-	1	0	KPNA1	123668924	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.911000	0.69939	2.356000	0.79943	0.467000	0.42956	GAA	KPNA1	-	pfam_Importin-a_IBB,superfamily_ARM-type_fold		0.363	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA1	HGNC	protein_coding	OTTHUMT00000355740.1	C	NM_002264		122186234	-1	no_errors	ENST00000344337	ensembl	human	known	70_37	missense	SNP	1.000	G
KRBA1	84626	genome.wustl.edu	37	7	149419615	149419615	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:149419615G>C	ENST00000485033.2	+	5	569	c.569G>C	c.(568-570)aGa>aCa	p.R190T	KRBA1_ENST00000255992.10_Missense_Mutation_p.R190T|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.R190T			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	190										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AAGAGCCACAGAGGACAGGAG	0.627																																																	0													23.0	28.0	27.0					7																	149419615		1872	4094	5966	SO:0001583	missense	84626			AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.569G>C	7.37:g.149419615G>C	ENSP00000420112:p.Arg190Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	NULL	p.R190T	ENST00000485033.2	37	c.569		7	.	.	.	.	.	.	.	.	.	.	G	8.237	0.805862	0.16467	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.32753	1.45;1.44;1.44	3.88	0.478	0.16789	.	1.344870	0.05206	N	0.505920	T	0.17066	0.0410	N	0.24115	0.695	0.09310	N	1	B	0.32620	0.378	B	0.26969	0.075	T	0.16689	-1.0394	10	0.30078	T	0.28	0.1592	2.6741	0.05076	0.3036:0.0:0.4705:0.226	.	190	A5PL33	KRBA1_HUMAN	T	190	ENSP00000255992:R190T;ENSP00000317165:R190T;ENSP00000420112:R190T	ENSP00000255992:R190T	R	+	2	0	KRBA1	149050548	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.308000	0.19314	-0.117000	0.11872	-0.150000	0.13652	AGA	KRBA1	-	NULL		0.627	KRBA1-004	PUTATIVE	basic	protein_coding	KRBA1	HGNC	protein_coding	OTTHUMT00000349841.3	G	NM_032534		149419615	+1	no_errors	ENST00000255992	ensembl	human	known	70_37	missense	SNP	0.000	C
KRT86	3892	genome.wustl.edu	37	12	52647411	52647411	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:52647411C>T	ENST00000544024.1	+	1	129				KRT121P_ENST00000529785.1_RNA			O43790	KRT86_HUMAN	keratin 86							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GACTCGGCCTCGGCCCGGCTG	0.557																																																	0																																										SO:0001627	intron_variant	85349			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000544024.1:c.-5+4199C>T	12.37:g.52647411C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P78387	RNA	SNP	-	NULL	ENST00000544024.1	37	NULL	CCDS41785.1	12																																																																																			KRT121P	-	-		0.557	KRT86-202	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT121P	HGNC	protein_coding		C	NM_002284		52647411	-1	no_errors	ENST00000529785	ensembl	human	known	70_37	rna	SNP	1.000	T
KRT1	3848	genome.wustl.edu	37	12	53072464	53072464	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:53072464C>T	ENST00000252244.3	-	2	726	c.668G>A	c.(667-669)aGa>aAa	p.R223K		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	223	Linker 1.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ATTATGGGTTCTAGTGGAGGT	0.468																																																	0													117.0	107.0	111.0					12																	53072464		2203	4300	6503	SO:0001583	missense	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.668G>A	12.37:g.53072464C>T	ENSP00000252244:p.Arg223Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R223K	ENST00000252244.3	37	c.668	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	C	7.873	0.728602	0.15507	.	.	ENSG00000167768	ENST00000252244	T	0.74842	-0.88	4.78	2.91	0.33838	Filament (1);	.	.	.	.	T	0.72078	0.3416	L	0.58669	1.825	0.09310	N	1	P	0.35527	0.507	B	0.43103	0.408	T	0.57957	-0.7721	9	0.21014	T	0.42	.	8.8302	0.35080	0.0:0.6123:0.3048:0.0829	.	223	P04264	K2C1_HUMAN	K	223	ENSP00000252244:R223K	ENSP00000252244:R223K	R	-	2	0	KRT1	51358731	0.000000	0.05858	0.005000	0.12908	0.073000	0.16967	-0.319000	0.08039	0.530000	0.28619	0.643000	0.83706	AGA	KRT1	-	pfam_F		0.468	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	C	NM_006121		53072464	-1	no_errors	ENST00000252244	ensembl	human	known	70_37	missense	SNP	0.049	T
KRT13	3860	genome.wustl.edu	37	17	39659972	39659972	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:39659972C>T	ENST00000246635.3	-	2	547	c.501G>A	c.(499-501)ctG>ctA	p.L167L	KRT13_ENST00000587544.1_Silent_p.L167L|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_Silent_p.L167L|KRT13_ENST00000587118.1_5'UTR	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	167	Coil 1B.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TGGTGGCGGTCAGGATCTACA	0.512																																																	0													240.0	239.0	239.0					17																	39659972		2203	4300	6503	SO:0001819	synonymous_variant	3860				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.501G>A	17.37:g.39659972C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53G54|Q6AZK5|Q8N240	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.L167	ENST00000246635.3	37	c.501	CCDS11396.1	17																																																																																			KRT13	-	pfam_F		0.512	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRT13	HGNC	protein_coding	OTTHUMT00000257297.1	C	NM_153490		39659972	-1	no_errors	ENST00000246635	ensembl	human	known	70_37	silent	SNP	0.325	T
KRT23	25984	genome.wustl.edu	37	17	39087627	39087627	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:39087627G>C	ENST00000209718.3	-	3	901	c.477C>G	c.(475-477)ctC>ctG	p.L159L	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Silent_p.L22L	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	159	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GAACTTACTTGAGGTTGAAGT	0.453																																																	0													156.0	137.0	143.0					17																	39087627		2203	4300	6503	SO:0001819	synonymous_variant	25984			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.477C>G	17.37:g.39087627G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Silent	SNP	pfam_F,prints_Keratin_I	p.L159	ENST00000209718.3	37	c.477	CCDS11380.1	17																																																																																			KRT23	-	pfam_F,prints_Keratin_I		0.453	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1	G			39087627	-1	no_errors	ENST00000209718	ensembl	human	known	70_37	silent	SNP	1.000	C
KRT39	390792	genome.wustl.edu	37	17	39118419	39118419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:39118419G>A	ENST00000355612.2	-	5	1026	c.991C>T	c.(991-993)Cga>Tga	p.R331*	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	331	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R331*(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AGTACCATTCGATGCTGGGCC	0.498																																																	1	Substitution - Nonsense(1)	endometrium(1)											245.0	218.0	228.0					17																	39118419		2203	4296	6499	SO:0001587	stop_gained	390792			AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.991C>T	17.37:g.39118419G>A	ENSP00000347823:p.Arg331*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXK6|Q6IFU6	Nonsense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.R331*	ENST00000355612.2	37	c.991	CCDS11382.1	17	.	.	.	.	.	.	.	.	.	.	G	37	5.986050	0.97173	.	.	ENSG00000196859	ENST00000355612	.	.	.	5.7	3.57	0.40892	.	0.430839	0.17314	N	0.178768	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	8.2557	0.31756	0.0:0.1153:0.4351:0.4496	.	.	.	.	X	331	.	ENSP00000347823:R331X	R	-	1	2	KRT39	36371945	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	3.542000	0.53625	1.384000	0.46424	0.655000	0.94253	CGA	KRT39	-	pfam_F,prints_Keratin_I		0.498	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT39	HGNC	protein_coding	OTTHUMT00000257287.1	G	NM_213656		39118419	-1	no_errors	ENST00000355612	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KRT35	3886	genome.wustl.edu	37	17	39634664	39634664	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:39634664C>G	ENST00000393989.1	-	5	990	c.948G>C	c.(946-948)ctG>ctC	p.L316L	KRT35_ENST00000246639.2_Silent_p.L286L	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	316	Coil 2.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCGTGCGTCTCAGCTCGATGA	0.597																																																	0													100.0	85.0	90.0					17																	39634664		2203	4300	6503	SO:0001819	synonymous_variant	3886			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.948G>C	17.37:g.39634664C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O76012|Q92651	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.L316	ENST00000393989.1	37	c.948	CCDS11394.2	17																																																																																			KRT35	-	pfam_F,superfamily_Prefoldin		0.597	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT35	HGNC	protein_coding		C	NM_002280		39634664	-1	no_errors	ENST00000393989	ensembl	human	known	70_37	silent	SNP	1.000	G
KRT13	3860	genome.wustl.edu	37	17	39659978	39659978	+	Splice_Site	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:39659978C>T	ENST00000246635.3	-	2	542		c.e2-1		KRT13_ENST00000587544.1_Splice_Site|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_Splice_Site|KRT13_ENST00000587118.1_Splice_Site	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13						cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CGGTCAGGATCTACAAAATGC	0.498																																																	0													235.0	234.0	234.0					17																	39659978		2203	4300	6503	SO:0001630	splice_region_variant	3860				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.496-1G>A	17.37:g.39659978C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53G54|Q6AZK5|Q8N240	Splice_Site	SNP	-	e2-1	ENST00000246635.3	37	c.496-1	CCDS11396.1	17	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217882	0.58560	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9083	0.88926	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT13	36913504	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	7.427000	0.80284	2.462000	0.83206	0.655000	0.94253	.	KRT13	-	-		0.498	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRT13	HGNC	protein_coding	OTTHUMT00000257297.1	C	NM_153490	Intron	39659978	-1	no_errors	ENST00000246635	ensembl	human	known	70_37	splice_site	SNP	1.000	T
KRT72	140807	genome.wustl.edu	37	12	52980737	52980737	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:52980737C>G	ENST00000537672.2	-	8	1348	c.1338G>C	c.(1336-1338)gtG>gtC	p.V446V	KRT72_ENST00000293745.2_Silent_p.V446V|KRT72_ENST00000354310.4_Silent_p.V404V|KRT72_ENST00000398066.3_Silent_p.V258V	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	446	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TACAGATGCTCACAGAATTTG	0.438																																																	0													117.0	107.0	110.0					12																	52980737		2203	4300	6503	SO:0001819	synonymous_variant	140807			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1338G>C	12.37:g.52980737C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.V446	ENST00000537672.2	37	c.1338	CCDS8833.1	12																																																																																			KRT72	-	NULL		0.438	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT72	HGNC	protein_coding	OTTHUMT00000405693.1	C	NM_080747		52980737	-1	no_errors	ENST00000293745	ensembl	human	known	70_37	silent	SNP	0.998	G
KRT72	140807	genome.wustl.edu	37	12	52981579	52981579	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:52981579C>T	ENST00000537672.2	-	7	1156	c.1146G>A	c.(1144-1146)ctG>ctA	p.L382L	KRT72_ENST00000293745.2_Silent_p.L382L|KRT72_ENST00000354310.4_Silent_p.L340L|KRT72_ENST00000398066.3_Silent_p.L194L	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	382	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GGGCATCTTTCAGGGCGCAGT	0.642																																																	0													58.0	55.0	56.0					12																	52981579		2203	4300	6503	SO:0001819	synonymous_variant	140807			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1146G>A	12.37:g.52981579C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.L382	ENST00000537672.2	37	c.1146	CCDS8833.1	12																																																																																			KRT72	-	pfam_F,prints_Keratin_II		0.642	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT72	HGNC	protein_coding	OTTHUMT00000405693.1	C	NM_080747		52981579	-1	no_errors	ENST00000293745	ensembl	human	known	70_37	silent	SNP	0.997	T
KRT76	51350	genome.wustl.edu	37	12	53162761	53162761	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:53162761G>A	ENST00000332411.2	-	9	1706	c.1653C>T	c.(1651-1653)gtC>gtT	p.V551V		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	551	Tail.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						tgccgccactgactccatagc	0.647																																																	0													16.0	12.0	14.0					12																	53162761		2127	4160	6287	SO:0001819	synonymous_variant	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1653C>T	12.37:g.53162761G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRR3|Q7Z795	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.V551	ENST00000332411.2	37	c.1653	CCDS8838.1	12																																																																																			KRT76	-	NULL		0.647	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT76	HGNC	protein_coding	OTTHUMT00000405928.1	G	NM_015848		53162761	-1	no_errors	ENST00000332411	ensembl	human	known	70_37	silent	SNP	0.008	A
KRT85	3891	genome.wustl.edu	37	12	52756725	52756725	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:52756725C>G	ENST00000257901.3	-	6	1065	c.990G>C	c.(988-990)gaG>gaC	p.E330D	KRT85_ENST00000544265.1_Missense_Mutation_p.E118D	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	330	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCGCAGGGTCTCCCCATGCC	0.602																																																	0													132.0	106.0	115.0					12																	52756725		2203	4298	6501	SO:0001583	missense	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.990G>C	12.37:g.52756725C>G	ENSP00000257901:p.Glu330Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NSB1	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E330D	ENST00000257901.3	37	c.990	CCDS8824.1	12	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053248	0.19907	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	D;T	0.88896	-2.44;-1.25	4.65	3.73	0.42828	Filament (1);	0.000000	0.64402	D	0.000010	T	0.75140	0.3809	L	0.31371	0.925	0.23510	N	0.997525	B	0.14012	0.009	B	0.20184	0.028	T	0.58994	-0.7537	10	0.02654	T	1	.	2.3976	0.04394	0.1409:0.4423:0.2602:0.1566	.	330	P78386	KRT85_HUMAN	D	330;118	ENSP00000257901:E330D;ENSP00000440240:E118D	ENSP00000257901:E330D	E	-	3	2	KRT85	51042992	0.505000	0.26131	1.000000	0.80357	0.973000	0.67179	0.081000	0.14823	2.418000	0.82041	0.555000	0.69702	GAG	KRT85	-	pfam_F,superfamily_Prefoldin,prints_Keratin_II		0.602	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	C	NM_002283		52756725	-1	no_errors	ENST00000257901	ensembl	human	known	70_37	missense	SNP	1.000	G
KRT82	3888	genome.wustl.edu	37	12	52793840	52793840	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:52793840C>G	ENST00000257974.2	-	5	948	c.871G>C	c.(871-873)Gag>Cag	p.E291Q	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	291	Coil 2.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GCCTTGATCTCAGCGATGATG	0.617																																																	0													109.0	91.0	97.0					12																	52793840		2203	4300	6503	SO:0001583	missense	3888			Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.871G>C	12.37:g.52793840C>G	ENSP00000257974:p.Glu291Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_F,prints_Keratin_II,prints_Keratin_I	p.E291Q	ENST00000257974.2	37	c.871	CCDS8826.1	12	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736308	0.49045	.	.	ENSG00000161850	ENST00000257974	D	0.92199	-2.99	5.18	4.28	0.50868	Filament (1);	0.269409	0.25944	N	0.027298	D	0.92306	0.7559	M	0.84082	2.675	0.39566	D	0.969209	B	0.26635	0.155	B	0.32583	0.148	D	0.91663	0.5344	10	0.72032	D	0.01	.	11.0869	0.48093	0.0:0.7927:0.1351:0.0722	.	291	Q9NSB4	KRT82_HUMAN	Q	291	ENSP00000257974:E291Q	ENSP00000257974:E291Q	E	-	1	0	KRT82	51080107	0.889000	0.30405	0.848000	0.33437	0.366000	0.29705	2.084000	0.41625	1.316000	0.45131	0.561000	0.74099	GAG	KRT82	-	pfam_F,prints_Keratin_I		0.617	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT82	HGNC	protein_coding	OTTHUMT00000405189.1	C	NM_033033		52793840	-1	no_errors	ENST00000257974	ensembl	human	known	70_37	missense	SNP	0.999	G
KRT76	51350	genome.wustl.edu	37	12	53162858	53162858	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:53162858G>C	ENST00000332411.2	-	9	1609	c.1556C>G	c.(1555-1557)tCt>tGt	p.S519C		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	519	Tail.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTACTGCCAGAGCTGCCACT	0.562																																																	0													17.0	15.0	16.0					12																	53162858		1956	3766	5722	SO:0001583	missense	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1556C>G	12.37:g.53162858G>C	ENSP00000330101:p.Ser519Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRR3|Q7Z795	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.S519C	ENST00000332411.2	37	c.1556	CCDS8838.1	12	.	.	.	.	.	.	.	.	.	.	G	3.198	-0.164301	0.06502	.	.	ENSG00000185069	ENST00000332411	D	0.82984	-1.67	3.92	0.888	0.19206	.	.	.	.	.	T	0.60881	0.2303	N	0.08118	0	0.24885	N	0.992204	P	0.40000	0.698	B	0.34038	0.174	T	0.54309	-0.8313	9	0.46703	T	0.11	.	5.4389	0.16496	0.1161:0.4095:0.4743:0.0	.	519	Q01546	K22O_HUMAN	C	519	ENSP00000330101:S519C	ENSP00000330101:S519C	S	-	2	0	KRT76	51449125	0.000000	0.05858	0.874000	0.34290	0.073000	0.16967	0.500000	0.22562	0.389000	0.25086	-0.302000	0.09304	TCT	KRT76	-	NULL		0.562	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT76	HGNC	protein_coding	OTTHUMT00000405928.1	G	NM_015848		53162858	-1	no_errors	ENST00000332411	ensembl	human	known	70_37	missense	SNP	0.553	C
KPNA4	3840	genome.wustl.edu	37	3	160285940	160285940	+	5'Flank	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:160285940C>G	ENST00000334256.4	-	0	0				KPNA4_ENST00000469804.1_5'Flank|KRT8P12_ENST00000468527.1_RNA	NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)						cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TCAAGACCCTCAACAACAAGT	0.547																																																	0																																										SO:0001631	upstream_gene_variant	90133			AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033		3.37:g.160285940C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4S6|D3DNM2|O00190	RNA	SNP	-	NULL	ENST00000334256.4	37	NULL	CCDS3191.1	3																																																																																			KRT8P12	-	-		0.547	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT8P12	HGNC	protein_coding	OTTHUMT00000352960.1	C	NM_002268		160285940	+1	no_errors	ENST00000468527	ensembl	human	putative	70_37	rna	SNP	1.000	G
KRTAP10-7	386675	genome.wustl.edu	37	21	46021247	46021247	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:46021247C>T	ENST00000380102.2	+	1	751	c.726C>T	c.(724-726)gtC>gtT	p.V242V	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	242	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCAAGCCCGTCTGCTGTGTGC	0.662																																																	0													149.0	146.0	147.0					21																	46021247		2203	4300	6503	SO:0001819	synonymous_variant	386675			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.726C>T	21.37:g.46021247C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VDJ8|Q70LJ2	Silent	SNP	NULL	p.V242	ENST00000380102.2	37	c.726		21																																																																																			KRTAP10-7	-	NULL		0.662	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	KRTAP10-7	HGNC	protein_coding	OTTHUMT00000128038.1	C	NM_198689		46021247	+1	no_errors	ENST00000380102	ensembl	human	known	70_37	silent	SNP	0.932	T
KRTCAP2	200185	genome.wustl.edu	37	1	155142356	155142356	+	5'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155142356G>A	ENST00000490672.1	-	0	3022				RP11-201K10.3_ENST00000473363.2_Intron|KRTCAP2_ENST00000295682.4_Intron			Q8N6L1	KTAP2_HUMAN	keratinocyte associated protein 2							integral component of membrane (GO:0016021)|oligosaccharyltransferase complex (GO:0008250)				endometrium(2)|large_intestine(1)|lung(1)	4	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.18e-10)|all cancers(21;8.39e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAAGAACAAGGAGGGCAACGG	0.532																																																	0													134.0	132.0	133.0					1																	155142356		2197	4295	6492	SO:0001623	5_prime_UTR_variant	200185			AY157577	CCDS1096.1	1q22	2008-02-05			ENSG00000163463	ENSG00000163463			28942	protein-coding gene	gene with protein product						15835887	Standard	NM_173852		Approved	KCP2	uc001fho.3	Q8N6L1	OTTHUMG00000013904	ENST00000490672.1:c.-242C>T	1.37:g.155142356G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4Q1|Q6PG45|Q86XW2|Q8IWS4	RNA	SNP	-	NULL	ENST00000490672.1	37	NULL		1																																																																																			KRTCAP2	-	-		0.532	KRTCAP2-003	KNOWN	basic	processed_transcript	KRTCAP2	HGNC	protein_coding	OTTHUMT00000039001.1	G	NM_173852		155142356	-1	no_errors	ENST00000480091	ensembl	human	known	70_37	rna	SNP	0.001	A
KTN1	3895	genome.wustl.edu	37	14	56119797	56119797	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:56119797G>C	ENST00000395314.3	+	27	2825	c.2757G>C	c.(2755-2757)ttG>ttC	p.L919F	KTN1_ENST00000416613.1_Missense_Mutation_p.L919F|KTN1_ENST00000438792.2_Missense_Mutation_p.L919F|KTN1_ENST00000554507.1_Missense_Mutation_p.L214F|KTN1_ENST00000395308.1_Missense_Mutation_p.L896F|KTN1_ENST00000395311.1_Missense_Mutation_p.L896F|KTN1_ENST00000395309.3_Missense_Mutation_p.L919F|KTN1_ENST00000413890.2_Missense_Mutation_p.L896F|Y_RNA_ENST00000363872.1_RNA	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	919					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AACATAACTTGAAAGAGGTAT	0.279			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													298.0	317.0	311.0					14																	56119797		2202	4285	6487	SO:0001583	missense	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.2757G>C	14.37:g.56119797G>C	ENSP00000378725:p.Leu919Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.L919F	ENST00000395314.3	37	c.2757	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	G	2.269	-0.367542	0.05069	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507	T;T;T;T;T;T;T;T	0.48201	1.4;1.47;1.37;1.47;1.4;1.4;1.47;0.82	5.42	3.55	0.40652	.	0.205916	0.22080	N	0.064904	T	0.34106	0.0886	L	0.36672	1.1	0.20563	N	0.999882	B;B;B;B;B	0.14012	0.003;0.009;0.001;0.003;0.003	B;B;B;B;B	0.14578	0.004;0.011;0.007;0.004;0.006	T	0.25082	-1.0142	10	0.56958	D	0.05	0.1791	5.8803	0.18852	0.1406:0.0:0.5889:0.2704	.	919;214;919;896;919	B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;.;KTN1_HUMAN	F	896;919;919;919;896;896;919;214	ENSP00000394992:L896F;ENSP00000378720:L919F;ENSP00000391964:L919F;ENSP00000378725:L919F;ENSP00000378719:L896F;ENSP00000378722:L896F;ENSP00000388807:L919F;ENSP00000452073:L214F	ENSP00000378719:L896F	L	+	3	2	KTN1	55189550	0.000000	0.05858	0.923000	0.36655	0.743000	0.42351	-0.269000	0.08596	1.259000	0.44117	0.585000	0.79938	TTG	KTN1	-	NULL		0.279	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	G			56119797	+1	no_errors	ENST00000395309	ensembl	human	known	70_37	missense	SNP	0.656	C
L3MBTL2	83746	genome.wustl.edu	37	22	41617260	41617260	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:41617260C>T	ENST00000216237.5	+	8	1069	c.911C>T	c.(910-912)tCc>tTc	p.S304F		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	304					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGTGGGCTCCAGGACGCTT	0.547																																																	0													71.0	47.0	55.0					22																	41617260		2011	3825	5836	SO:0001583	missense	83746			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.911C>T	22.37:g.41617260C>T	ENSP00000216237:p.Ser304Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.S304F	ENST00000216237.5	37	c.911	CCDS14011.1	22	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085302	0.76642	.	.	ENSG00000100395	ENST00000216237	T	0.42513	0.97	5.68	5.68	0.88126	.	0.309714	0.39274	N	0.001414	T	0.41119	0.1145	N	0.22421	0.69	0.44816	D	0.997826	P;B	0.41569	0.755;0.167	P;B	0.44990	0.466;0.163	T	0.38200	-0.9672	10	0.87932	D	0	.	19.785	0.96433	0.0:1.0:0.0:0.0	.	304;304	Q969R5-3;Q969R5	.;LMBL2_HUMAN	F	304	ENSP00000216237:S304F	ENSP00000216237:S304F	S	+	2	0	L3MBTL2	39947206	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.040000	0.70980	2.683000	0.91414	0.561000	0.74099	TCC	L3MBTL2	-	smart_Mbt,pfscan_Mbt		0.547	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL2	HGNC	protein_coding	OTTHUMT00000320613.1	C	NM_031488		41617260	+1	no_errors	ENST00000216237	ensembl	human	known	70_37	missense	SNP	1.000	T
LACE1	246269	genome.wustl.edu	37	6	108841001	108841001	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:108841001G>C	ENST00000368977.4	+	12	1491	c.1305G>C	c.(1303-1305)ttG>ttC	p.L435F		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	435						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TGGATGATTTGGGGCTGAGCC	0.368																																																	0													114.0	105.0	108.0					6																	108841001		2203	4300	6503	SO:0001583	missense	246269			AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.1305G>C	6.37:g.108841001G>C	ENSP00000357973:p.Leu435Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N6A3	Missense_Mutation	SNP	pfam_ATPase_AFG1-like	p.L435F	ENST00000368977.4	37	c.1305	CCDS5067.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.550747|4.550747	0.86127|0.86127	.|.	.|.	ENSG00000135537|ENSG00000135537	ENST00000368977|ENST00000421954	.|.	.|.	.|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83649|0.83649	0.5300|0.5300	M|M	0.89534|0.89534	3.04|3.04	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.71184|.	0.972|.	D|D	0.85323|0.85323	0.1085|0.1085	9|5	0.87932|.	D|.	0|.	-9.54|-9.54	19.6956|19.6956	0.96023|0.96023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	435|.	Q8WV93|.	LACE1_HUMAN|.	F|S	435|303	.|.	ENSP00000357973:L435F|.	L|W	+|+	3|2	2|0	LACE1|LACE1	108947694|108947694	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.245000|6.245000	0.72398|0.72398	2.757000|2.757000	0.94681|0.94681	0.561000|0.561000	0.74099|0.74099	TTG|TGG	LACE1	-	NULL		0.368	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACE1	HGNC	protein_coding	OTTHUMT00000041719.4	G	NM_145315		108841001	+1	no_errors	ENST00000368977	ensembl	human	known	70_37	missense	SNP	1.000	C
LAMA4	3910	genome.wustl.edu	37	6	112535211	112535211	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:112535211G>C	ENST00000230538.7	-	3	695				LAMA4_ENST00000431543.2_Missense_Mutation_p.Q120E|LAMA4_ENST00000524032.1_Intron|LAMA4_ENST00000389463.4_Intron|LAMA4_ENST00000424408.2_Intron|LAMA4_ENST00000522006.1_Intron	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTGGCTCCCTGAGAGCTGAGA	0.488																																																	0													142.0	128.0	132.0					6																	112535211		876	1991	2867	SO:0001627	intron_variant	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.297+2357C>G	6.37:g.112535211G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	NULL	p.Q120E	ENST00000230538.7	37	c.358	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446567	0.43429	.	.	ENSG00000112769	ENST00000431543	T	0.45276	0.9	4.14	3.22	0.36961	.	.	.	.	.	T	0.14830	0.0358	.	.	.	0.19300	N	0.99998	B	0.16396	0.017	B	0.12156	0.007	T	0.24584	-1.0156	8	0.52906	T	0.07	.	9.3139	0.37921	0.0:0.2203:0.7797:0.0	.	120	Q6LET9	.	E	120	ENSP00000412136:Q120E	ENSP00000412136:Q120E	Q	-	1	0	LAMA4	112641904	0.204000	0.23447	0.056000	0.19401	0.505000	0.33919	1.892000	0.39748	0.879000	0.35944	0.561000	0.74099	CAG	LAMA4	-	NULL		0.488	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	G	NM_001105206		112535211	-1	no_errors	ENST00000431543	ensembl	human	putative	70_37	missense	SNP	0.032	C
LAMA2	3908	genome.wustl.edu	37	6	129777516	129777516	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:129777516G>C	ENST00000421865.2	+	48	6793	c.6744G>C	c.(6742-6744)ctG>ctC	p.L2248L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2248	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAGAGCCCTGGATGGACCCA	0.463																																																	0													180.0	158.0	165.0					6																	129777516		2203	4300	6503	SO:0001819	synonymous_variant	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6744G>C	6.37:g.129777516G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14736|Q5VUM2|Q93022	Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L2248	ENST00000421865.2	37	c.6744	CCDS5138.1	6																																																																																			LAMA2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.463	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	G			129777516	+1	no_errors	ENST00000421865	ensembl	human	known	70_37	silent	SNP	0.952	C
LAMA2	3908	genome.wustl.edu	37	6	129828747	129828747	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:129828747G>C	ENST00000421865.2	+	62	8866	c.8817G>C	c.(8815-8817)caG>caC	p.Q2939H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2939	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAAATGCTCAGAGGGGAACAT	0.463																																																	0													185.0	174.0	177.0					6																	129828747		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8817G>C	6.37:g.129828747G>C	ENSP00000400365:p.Gln2939His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.Q2939H	ENST00000421865.2	37	c.8817	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628215	0.66901	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.45668	0.89	5.52	2.35	0.29111	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.104953	0.64402	D	0.000005	T	0.28267	0.0698	M	0.64997	1.995	0.33247	D	0.558059	P;P	0.48998	0.918;0.918	P;P	0.47015	0.534;0.534	T	0.08289	-1.0729	9	.	.	.	.	9.5879	0.39528	0.3686:0.0:0.6313:0.0	.	2940;2939	A6NF00;P24043	.;LAMA2_HUMAN	H	2939;2938;2939;957	ENSP00000400365:Q2939H	.	Q	+	3	2	LAMA2	129870440	1.000000	0.71417	0.973000	0.42090	0.988000	0.76386	0.663000	0.25053	0.718000	0.32166	0.491000	0.48974	CAG	LAMA2	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G		0.463	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	G			129828747	+1	no_errors	ENST00000421865	ensembl	human	known	70_37	missense	SNP	0.976	C
L3MBTL3	84456	genome.wustl.edu	37	6	130363855	130363855	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:130363855C>A	ENST00000529410.1	+	5	490	c.11C>A	c.(10-12)tCt>tAt	p.S4Y	L3MBTL3_ENST00000368136.2_Missense_Mutation_p.S4Y|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.S4Y|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.S4Y|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.S4Y|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.S4Y			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	4					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ATGACTGAATCTGCCTCTAGC	0.383																																																	0													154.0	139.0	144.0					6																	130363855		2203	4300	6503	SO:0001583	missense	84456			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.11C>A	6.37:g.130363855C>A	ENSP00000431962:p.Ser4Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.S4Y	ENST00000529410.1	37	c.11	CCDS34537.1	6	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237803	0.79800	.	.	ENSG00000198945	ENST00000529410;ENST00000526087;ENST00000533560;ENST00000361794;ENST00000528385;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T;T	0.54071	2.32;2.32;2.32;0.59;2.32;2.32;2.32	5.7	5.7	0.88788	.	0.380629	0.31734	N	0.007155	T	0.49864	0.1582	L	0.50333	1.59	0.37699	D	0.924123	P;D	0.53885	0.955;0.963	P;P	0.50490	0.542;0.642	T	0.56318	-0.7999	10	0.87932	D	0	.	16.7465	0.85474	0.0:1.0:0.0:0.0	.	4;4	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	Y	4	ENSP00000431962:S4Y;ENSP00000437185:S4Y;ENSP00000354526:S4Y;ENSP00000433257:S4Y;ENSP00000357121:S4Y;ENSP00000436706:S4Y;ENSP00000357118:S4Y	ENSP00000354526:S4Y	S	+	2	0	L3MBTL3	130405548	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.004000	0.63966	2.687000	0.91594	0.591000	0.81541	TCT	L3MBTL3	-	NULL		0.383	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	C	XM_027074		130363855	+1	no_errors	ENST00000361794	ensembl	human	known	70_37	missense	SNP	1.000	A
LAMC2	3918	genome.wustl.edu	37	1	183177098	183177098	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:183177098C>G	ENST00000264144.4	+	2	227	c.162C>G	c.(160-162)ctC>ctG	p.L54L	LAMC2_ENST00000493293.1_Silent_p.L54L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	54	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.L54L(1)|p.L54>?(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TCCGCTGCCTCAACTGCAATG	0.488																																																	2	Complex(1)|Substitution - coding silent(1)	kidney(2)											250.0	240.0	244.0					1																	183177098		2203	4300	6503	SO:0001819	synonymous_variant	3918			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.162C>G	1.37:g.183177098C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin	p.L54	ENST00000264144.4	37	c.162	CCDS1352.1	1																																																																																			LAMC2	-	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin		0.488	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC2	HGNC	protein_coding	OTTHUMT00000086258.1	C	NM_005562		183177098	+1	no_errors	ENST00000264144	ensembl	human	known	70_37	silent	SNP	1.000	G
LAMC3	10319	genome.wustl.edu	37	9	133963004	133963004	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:133963004G>A	ENST00000361069.4	+	26	4505	c.4372G>A	c.(4372-4374)Gag>Aag	p.E1458K	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1458	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGAGGAAGCTGAGCGGGTACG	0.657																																																	0													66.0	72.0	70.0					9																	133963004		2203	4300	6503	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.4372G>A	9.37:g.133963004G>A	ENSP00000354360:p.Glu1458Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E1458K	ENST00000361069.4	37	c.4372	CCDS6938.1	9	.	.	.	.	.	.	.	.	.	.	G	5.183	0.219312	0.09863	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.27557	1.66	4.74	2.82	0.32997	.	0.627251	0.15165	N	0.276969	T	0.19644	0.0472	L	0.33485	1.01	0.09310	N	1	B;B	0.13594	0.008;0.002	B;B	0.14023	0.01;0.008	T	0.24548	-1.0157	10	0.21014	T	0.42	.	5.9698	0.19346	0.2526:0.0:0.7474:0.0	.	139;1458	Q9UF61;Q9Y6N6	.;LAMC3_HUMAN	K	1458;1470	ENSP00000354360:E1458K	ENSP00000347156:E1470K	E	+	1	0	LAMC3	132952825	0.003000	0.15002	0.126000	0.21872	0.207000	0.24258	0.750000	0.26334	0.542000	0.28846	0.563000	0.77884	GAG	LAMC3	-	NULL		0.657	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	G	NM_006059		133963004	+1	no_errors	ENST00000361069	ensembl	human	known	70_37	missense	SNP	0.277	A
LANCL3	347404	genome.wustl.edu	37	X	37431522	37431522	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:37431522C>T	ENST00000378619.3	+	1	618	c.399C>T	c.(397-399)ctC>ctT	p.L133L	TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378621.3_Silent_p.L133L	NM_001170331.1	NP_001163802.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	133							catalytic activity (GO:0003824)			lung(4)|pancreas(1)	5						TGGCCACGCTCGTATACCACG	0.736																																																	0													2.0	2.0	2.0					X																	37431522		1387	2638	4025	SO:0001819	synonymous_variant	347404			AK124915	CCDS14240.1, CCDS55398.1	Xp21.1	2008-02-05			ENSG00000147036	ENSG00000147036			24767	protein-coding gene	gene with protein product							Standard	NM_198511		Approved	FLJ42925	uc011mkd.2	Q6ZV70	OTTHUMG00000033177	ENST00000378619.3:c.399C>T	X.37:g.37431522C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHE3	Silent	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LANC-like,prints_LanC-like_prot_euk	p.L133	ENST00000378619.3	37	c.399	CCDS55398.1	X																																																																																			LANCL3	-	pfam_LANC-like		0.736	LANCL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LANCL3	HGNC	protein_coding	OTTHUMT00000080885.1	C	NM_198511		37431522	+1	no_errors	ENST00000378619	ensembl	human	known	70_37	silent	SNP	0.864	T
LARGE	9215	genome.wustl.edu	37	22	33670487	33670487	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:33670487C>G	ENST00000354992.2	-	16	2768	c.2197G>C	c.(2197-2199)Gag>Cag	p.E733Q	LARGE_ENST00000452586.2_Missense_Mutation_p.E532Q|LARGE_ENST00000397394.2_Missense_Mutation_p.E733Q|LARGE_ENST00000437602.2_Missense_Mutation_p.E684Q|LARGE_ENST00000337431.2_Missense_Mutation_p.E681Q|LARGE_ENST00000402320.1_Missense_Mutation_p.E681Q	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	733					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TGCTGAAACTCTTCCTTGAGG	0.532											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(70;397 1175 4573 19089 45288)												0													165.0	135.0	145.0					22																	33670487		2203	4300	6503	SO:0001583	missense	9215			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.2197G>C	22.37:g.33670487C>G	ENSP00000347088:p.Glu733Gln	Somatic	841	WXS	Illumina HiSeq	Phase_IV	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.E733Q	ENST00000354992.2	37	c.2197	CCDS13912.1	22	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831101	0.91036	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.37850	1.14	0.80722	D	1	D;B;P;P	0.56521	0.976;0.138;0.929;0.935	P;B;P;P	0.57283	0.817;0.177;0.771;0.734	T	0.00188	-1.1940	10	0.35671	T	0.21	-13.9295	20.8598	0.99761	0.0:1.0:0.0:0.0	.	684;532;681;733	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	Q	733;681;733;681;532;684	ENSP00000347088:E733Q;ENSP00000336636:E681Q;ENSP00000380549:E733Q;ENSP00000385223:E681Q;ENSP00000407917:E532Q;ENSP00000388544:E684Q	ENSP00000336636:E681Q	E	-	1	0	LARGE	32000487	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.348000	0.79366	2.937000	0.99478	0.650000	0.86243	GAG	LARGE	-	NULL		0.532	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARGE	HGNC	protein_coding	OTTHUMT00000320515.2	C	NM_133642		33670487	-1	no_errors	ENST00000354992	ensembl	human	known	70_37	missense	SNP	1.000	G
LARGE	9215	genome.wustl.edu	37	22	34157361	34157361	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:34157361C>T	ENST00000354992.2	-	3	674	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	LARGE_ENST00000397394.2_Missense_Mutation_p.E35K|LARGE_ENST00000437602.2_Missense_Mutation_p.E35K|LARGE_ENST00000337431.2_Missense_Mutation_p.E35K|LARGE_ENST00000402320.1_Missense_Mutation_p.E35K	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	35					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TTCTTACCTTCGAAGCTCCCA	0.483																																					Colon(70;397 1175 4573 19089 45288)												0													136.0	136.0	136.0					22																	34157361		2203	4300	6503	SO:0001583	missense	9215			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.103G>A	22.37:g.34157361C>T	ENSP00000347088:p.Glu35Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.E35K	ENST00000354992.2	37	c.103	CCDS13912.1	22	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606313	0.66445	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114;ENST00000434071;ENST00000432776;ENST00000423375	T;T;T;T;T;T;T;T	0.54675	1.05;1.03;1.05;1.03;0.56;1.35;1.34;1.38	5.7	5.7	0.88788	.	0.178242	0.49916	D	0.000123	T	0.37489	0.1005	N	0.24115	0.695	0.80722	D	1	B;B;P	0.37997	0.382;0.229;0.614	B;B;B	0.23018	0.043;0.035;0.026	T	0.35699	-0.9778	10	0.51188	T	0.08	.	18.814	0.92070	0.0:1.0:0.0:0.0	.	35;35;35	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	K	35	ENSP00000347088:E35K;ENSP00000336636:E35K;ENSP00000380549:E35K;ENSP00000385223:E35K;ENSP00000388544:E35K;ENSP00000396277:E35K;ENSP00000415546:E35K;ENSP00000389605:E35K	ENSP00000336636:E35K	E	-	1	0	LARGE	32487361	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.972000	0.56838	2.680000	0.91292	0.561000	0.74099	GAA	LARGE	-	NULL		0.483	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARGE	HGNC	protein_coding	OTTHUMT00000320515.2	C	NM_133642		34157361	-1	no_errors	ENST00000354992	ensembl	human	known	70_37	missense	SNP	1.000	T
LAX1	54900	genome.wustl.edu	37	1	203743702	203743702	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:203743702G>C	ENST00000442561.2	+	5	1480	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	LAX1_ENST00000367217.5_Missense_Mutation_p.E348Q|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	364					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACATAGAGAAGAGATGTCAAA	0.483																																																	0													108.0	110.0	109.0					1																	203743702		2203	4300	6503	SO:0001583	missense	54900			AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.1090G>C	1.37:g.203743702G>C	ENSP00000406970:p.Glu364Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	NULL	p.E364Q	ENST00000442561.2	37	c.1090	CCDS1441.2	1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456483	0.43634	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	4.02	1.11	0.20524	.	0.580111	0.16526	N	0.210566	T	0.45316	0.1336	L	0.59436	1.845	0.09310	N	1	D;D	0.57257	0.979;0.979	P;P	0.52957	0.714;0.624	T	0.30416	-0.9979	9	0.66056	D	0.02	-5.3831	5.9654	0.19322	0.3332:0.0:0.6668:0.0	.	348;364	B7Z744;Q8IWV1	.;LAX1_HUMAN	Q	364;348	.	ENSP00000356186:E348Q	E	+	1	0	LAX1	202010325	1.000000	0.71417	0.007000	0.13788	0.018000	0.09664	1.761000	0.38440	0.262000	0.21774	-0.150000	0.13652	GAG	LAX1	-	NULL		0.483	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAX1	HGNC	protein_coding	OTTHUMT00000087468.3	G	NM_017773		203743702	+1	no_errors	ENST00000442561	ensembl	human	known	70_37	missense	SNP	0.021	C
LCLAT1	253558	genome.wustl.edu	37	2	30748456	30748456	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:30748456C>T	ENST00000309052.4	+	3	323	c.114C>T	c.(112-114)atC>atT	p.I38I	LCLAT1_ENST00000359433.1_Silent_p.I38I|LCLAT1_ENST00000491680.2_Intron|LCLAT1_ENST00000379509.3_5'UTR|LCLAT1_ENST00000540623.1_5'UTR|LCLAT1_ENST00000319406.4_Silent_p.I38I	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	38					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						CTTTCAGAATCATGGTGTCAT	0.333																																																	0													124.0	123.0	123.0					2																	30748456		2203	4300	6503	SO:0001819	synonymous_variant	253558			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.114C>T	2.37:g.30748456C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8Z7|Q8N1Q7	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.I38	ENST00000309052.4	37	c.114	CCDS1772.1	2																																																																																			LCLAT1	-	NULL		0.333	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	LCLAT1	HGNC	protein_coding	OTTHUMT00000216780.1	C	NM_182551		30748456	+1	no_errors	ENST00000309052	ensembl	human	known	70_37	silent	SNP	1.000	T
LCORL	254251	genome.wustl.edu	37	4	17885383	17885383	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:17885383G>A	ENST00000382226.5	-	7	1877	c.1769C>T	c.(1768-1770)tCa>tTa	p.S590L	LCORL_ENST00000382224.1_Missense_Mutation_p.S506L|LCORL_ENST00000326877.4_Intron|LCORL_ENST00000539056.1_Intron	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	590					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						GCCAGTCCCTGAATCTGTCAT	0.413																																																	0													167.0	139.0	147.0					4																	17885383		692	1591	2283	SO:0001583	missense	254251				CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177			30776	protein-coding gene	gene with protein product		611799				12560079	Standard	NM_153686		Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000382226.5:c.1769C>T	4.37:g.17885383G>A	ENSP00000371661:p.Ser590Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96NK1	Missense_Mutation	SNP	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	p.S590L	ENST00000382226.5	37	c.1769	CCDS54749.1	4	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260914	0.59431	.	.	ENSG00000178177	ENST00000382224;ENST00000382226	.	.	.	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000005	T	0.50154	0.1599	N	0.08118	0	0.54753	D	0.999987	.	.	.	.	.	.	T	0.61113	-0.7128	7	0.66056	D	0.02	.	18.1803	0.89776	0.0:0.0:1.0:0.0	.	.	.	.	L	506;590	.	ENSP00000371659:S506L	S	-	2	0	LCORL	17494481	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.761000	0.85260	2.346000	0.79739	0.655000	0.94253	TCA	LCORL	-	NULL		0.413	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LCORL	HGNC	protein_coding		G	NM_153686		17885383	-1	no_errors	ENST00000382226	ensembl	human	known	70_37	missense	SNP	1.000	A
LCP2	3937	genome.wustl.edu	37	5	169697724	169697724	+	Splice_Site	SNP	G	G	A	rs367557459		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:169697724G>A	ENST00000046794.5	-	7	1137	c.522C>T	c.(520-522)atC>atT	p.I174I		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	174					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGCCCTTACCGATGTACATGG	0.582																																																	0								G		0,4166		0,0,2083	93.0	106.0	101.0		522	-5.1	0.9	5		101	1,8403		0,1,4201	no	coding-synonymous-near-splice	LCP2	NM_005565.3		0,1,6284	AA,AG,GG		0.0119,0.0,0.0080		174/534	169697724	1,12569	2083	4202	6285	SO:0001630	splice_region_variant	3937				CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.523+1C>T	5.37:g.169697724G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA25|Q53XV4	Silent	SNP	pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2	p.I174	ENST00000046794.5	37	c.522	CCDS47339.1	5																																																																																			LCP2	-	NULL		0.582	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP2	HGNC	protein_coding	OTTHUMT00000371727.1	G	NM_005565	Silent	169697724	-1	no_errors	ENST00000046794	ensembl	human	known	70_37	silent	SNP	0.851	A
LEKR1	389170	genome.wustl.edu	37	3	156642386	156642386	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:156642386G>C	ENST00000470811.1	+	5	497				LEKR1_ENST00000477399.1_3'UTR|LEKR1_ENST00000356539.4_Intron|LEKR1_ENST00000489350.1_Intron|LEKR1_ENST00000491763.1_3'UTR			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1											breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ctcttctttagatctatgatc	0.353																																																	0																																										SO:0001627	intron_variant	389170			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.-838-2832G>C	3.37:g.156642386G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000470811.1	37	NULL		3																																																																																			LEKR1	-	-		0.353	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	LEKR1	Uniprot_genename	protein_coding	OTTHUMT00000351625.3	G	NM_001004316		156642386	+1	no_errors	ENST00000491763	ensembl	human	known	70_37	rna	SNP	0.008	C
LENG9	94059	genome.wustl.edu	37	19	54972070	54972070	+	IGR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:54972070G>C	ENST00000333834.4	-	0	1914				LENG8_ENST00000376514.2_Missense_Mutation_p.D43H|LENG8_ENST00000326764.5_Missense_Mutation_p.D789H	NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9								catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CTCCAGCATCGACTGCCGCCT	0.716																																																	0													6.0	6.0	6.0					19																	54972070		2125	4170	6295	SO:0001628	intergenic_variant	114823			AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273		19.37:g.54972070G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2VAM3	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.D789H	ENST00000333834.4	37	c.2365	CCDS12895.2	19	.	.	.	.	.	.	.	.	.	.	G	19.87	3.908149	0.72868	.	.	ENSG00000167615	ENST00000326764;ENST00000376514	T	0.49720	0.77	3.63	3.63	0.41609	.	0.218072	0.36200	N	0.002734	T	0.65647	0.2711	.	.	.	0.24132	N	0.995764	D	0.89917	1.0	D	0.77004	0.989	T	0.57723	-0.7762	9	0.87932	D	0	.	13.5808	0.61901	0.0:0.0:1.0:0.0	.	789	Q96PV6-2	.	H	789;43	ENSP00000318374:D789H	ENSP00000318374:D789H	D	+	1	0	LENG8	59663882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.048000	0.76606	2.332000	0.79248	0.561000	0.74099	GAC	LENG8	-	NULL		0.716	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG8	HGNC	protein_coding	OTTHUMT00000140806.3	G	NM_198988		54972070	+1	no_errors	ENST00000326764	ensembl	human	known	70_37	missense	SNP	1.000	C
LEPR	3953	genome.wustl.edu	37	1	66036336	66036336	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:66036336C>G	ENST00000349533.6	+	4	406	c.221C>G	c.(220-222)tCa>tGa	p.S74*	LEPR_ENST00000371059.3_Nonsense_Mutation_p.S74*|LEPR_ENST00000462765.1_3'UTR|snoU13_ENST00000459362.1_RNA|LEPR_ENST00000371060.3_Nonsense_Mutation_p.S74*|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000344610.8_Nonsense_Mutation_p.S74*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.S74*	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAGTTTAATTCAAGTGGTACT	0.378																																																	0													115.0	112.0	113.0					1																	66036336		2203	4300	6503	SO:0001587	stop_gained	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.221C>G	1.37:g.66036336C>G	ENSP00000330393:p.Ser74*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FHL5	Nonsense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S74*	ENST00000349533.6	37	c.221	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.466993	0.96257	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	5.69	2.59	0.31030	.	0.705490	0.13310	N	0.397548	.	.	.	.	.	.	0.39389	D	0.966386	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-5.102	5.7044	0.17901	0.0:0.6636:0.1608:0.1756	.	.	.	.	X	74	.	ENSP00000340884:S74X	S	+	2	0	LEPR	65808924	0.227000	0.23707	0.792000	0.32020	0.846000	0.48090	0.009000	0.13219	1.409000	0.46915	0.557000	0.71058	TCA	LEPR	-	NULL		0.378	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	C	NM_002303		66036336	+1	no_errors	ENST00000349533	ensembl	human	known	70_37	nonsense	SNP	0.545	G
LEPREL1	55214	genome.wustl.edu	37	3	189690765	189690765	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:189690765C>T	ENST00000319332.5	-	11	1794	c.1597G>A	c.(1597-1599)Gac>Aac	p.D533N	LEPREL1_ENST00000427335.2_Missense_Mutation_p.D352N	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	533					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCGCTGATGTCATAAAACAGA	0.413																																																	0													91.0	82.0	85.0					3																	189690765		2203	4300	6503	SO:0001583	missense	55214				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1597G>A	3.37:g.189690765C>T	ENSP00000316881:p.Asp533Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.D533N	ENST00000319332.5	37	c.1597	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375547	0.61735	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.42513	0.97;0.97	5.57	5.57	0.84162	Prolyl 4-hydroxylase, alpha subunit (1);	0.087836	0.85682	D	0.000000	T	0.30039	0.0752	N	0.13327	0.33	0.80722	D	1	B	0.17038	0.02	B	0.24006	0.05	T	0.08534	-1.0717	9	.	.	.	-23.139	18.5429	0.91035	0.0:1.0:0.0:0.0	.	533	Q8IVL5	P3H2_HUMAN	N	533;352	ENSP00000316881:D533N;ENSP00000408947:D352N	.	D	-	1	0	LEPREL1	191173459	0.998000	0.40836	1.000000	0.80357	0.893000	0.52053	2.974000	0.49272	2.606000	0.88127	0.650000	0.86243	GAC	LEPREL1	-	smart_Pro_4_hyd_alph		0.413	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	C	NM_018192		189690765	-1	no_errors	ENST00000319332	ensembl	human	known	70_37	missense	SNP	1.000	T
LGALS16	148003	genome.wustl.edu	37	19	40148497	40148497	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:40148497C>G	ENST00000392051.3	+	2	83					NM_001190441.1	NP_001177370.1			lectin, galactoside-binding, soluble, 16																		CCCTGCACCTCTCACTTATTC	0.507																																																	0																																										SO:0001627	intron_variant	148003				CCDS54267.1	19q13.2	2011-08-04			ENSG00000249861	ENSG00000249861		"""Lectins, galactoside-binding"""	40039	protein-coding gene	gene with protein product						19497882	Standard	NM_001190441		Approved		uc021uun.1	A8MUM7		ENST00000392051.3:c.16-26C>G	19.37:g.40148497C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L15	ENST00000392051.3	37	c.45	CCDS54267.1	19																																																																																			LGALS16	-	NULL		0.507	LGALS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS16	HGNC	protein_coding	OTTHUMT00000465022.1	C			40148497	+1	no_errors	ENST00000594480	ensembl	human	known	70_37	silent	SNP	0.006	G
LGALS3BP	3959	genome.wustl.edu	37	17	76968555	76968555	+	Missense_Mutation	SNP	G	G	C	rs138118783		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:76968555G>C	ENST00000262776.3	-	6	1169	c.861C>G	c.(859-861)ttC>ttG	p.F287L	LGALS3BP_ENST00000591778.1_Missense_Mutation_p.S203W	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	287	BACK.				cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCAAGGCCTCGAAGTTCCAGG	0.667																																					GBM(89;1105 1755 18102 21513)												0													32.0	35.0	34.0					17																	76968555		2203	4300	6503	SO:0001583	missense	3959			L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.861C>G	17.37:g.76968555G>C	ENSP00000262776:p.Phe287Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.F287L	ENST00000262776.3	37	c.861	CCDS11759.1	17	.	.	.	.	.	.	.	.	.	.	G	8.410	0.843959	0.16963	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.75260	-0.92	3.65	0.447	0.16608	BTB/Kelch-associated (2);	0.000000	0.40818	N	0.001004	T	0.58119	0.2100	L	0.35593	1.075	0.80722	D	1	B	0.25743	0.133	B	0.35899	0.213	T	0.26395	-1.0104	10	0.14656	T	0.56	-28.0599	3.567	0.07904	0.2418:0.2131:0.5452:0.0	.	287	Q08380	LG3BP_HUMAN	L	287;275	ENSP00000262776:F287L	ENSP00000262776:F287L	F	-	3	2	LGALS3BP	74480150	0.753000	0.28349	0.923000	0.36655	0.732000	0.41865	0.182000	0.16900	0.141000	0.18875	0.561000	0.74099	TTC	LGALS3BP	-	pfam_BACK,smart_BACK		0.667	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3BP	HGNC	protein_coding	OTTHUMT00000437785.3	G	NM_005567		76968555	-1	no_errors	ENST00000262776	ensembl	human	known	70_37	missense	SNP	0.998	C
LGALS8	3964	genome.wustl.edu	37	1	236708213	236708213	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:236708213G>C	ENST00000366584.4	+	9	1368	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	LGALS8_ENST00000323938.6_Missense_Mutation_p.E241Q|LGALS8_ENST00000526634.1_Missense_Mutation_p.E268Q|LGALS8_ENST00000341872.6_Missense_Mutation_p.E268Q|LGALS8_ENST00000527974.1_Missense_Mutation_p.E310Q|LGALS8_ENST00000416919.2_Missense_Mutation_p.E251Q|LGALS8_ENST00000526589.1_Missense_Mutation_p.E310Q|LGALS8_ENST00000352231.2_Missense_Mutation_p.E310Q|LGALS8_ENST00000525042.1_Missense_Mutation_p.E251Q|LGALS8_ENST00000450372.2_Missense_Mutation_p.E310Q|RP11-385F5.4_ENST00000433131.1_RNA	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	268	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GATGTACTTTGAGGTGAGGTT	0.398																																																	0													65.0	68.0	67.0					1																	236708213		2203	4300	6503	SO:0001583	missense	3964			X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"""Lectins, galactoside-binding"""	6569	protein-coding gene	gene with protein product	"""galectin 8"""	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.802G>C	1.37:g.236708213G>C	ENSP00000355543:p.Glu268Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.E310Q	ENST00000366584.4	37	c.928	CCDS1612.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.211715	0.95069	.	.	ENSG00000116977	ENST00000527974;ENST00000352231;ENST00000526589;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000356238;ENST00000416919;ENST00000323938;ENST00000526634;ENST00000525042	T;T;T;T;T;T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.26048	0.0635	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.99;0.997;0.964	T	0.00045	-1.2216	10	0.40728	T	0.16	-7.99	19.6142	0.95626	0.0:0.0:1.0:0.0	.	251;268;310	F6V2D4;O00214;O00214-2	.;LEG8_HUMAN;.	Q	310;310;310;268;310;268;309;251;241;268;251	ENSP00000431398:E310Q;ENSP00000309576:E310Q;ENSP00000435460:E310Q;ENSP00000342139:E268Q;ENSP00000408657:E310Q;ENSP00000355543:E268Q;ENSP00000410843:E251Q;ENSP00000434860:E241Q;ENSP00000437040:E268Q;ENSP00000431884:E251Q	ENSP00000434860:E241Q	E	+	1	0	LGALS8	234774836	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.916000	0.92745	2.941000	0.99782	0.655000	0.94253	GAG	LGALS8	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD		0.398	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS8	HGNC	protein_coding	OTTHUMT00000096365.2	G	NM_006499		236708213	+1	no_errors	ENST00000352231	ensembl	human	known	70_37	missense	SNP	1.000	C
LIG3	3980	genome.wustl.edu	37	17	33328397	33328397	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:33328397C>G	ENST00000378526.4	+	17	2586	c.2453C>G	c.(2452-2454)tCt>tGt	p.S818C	LIG3_ENST00000262327.5_Missense_Mutation_p.S818C	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	818					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GACTGGAAATCTGCCACTAAC	0.527								Other BER factors																																									0													91.0	87.0	88.0					17																	33328397		2203	4300	6503	SO:0001583	missense	3980				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.2453C>G	17.37:g.33328397C>G	ENSP00000367787:p.Ser818Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16714|Q6NVK3	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.S818C	ENST00000378526.4	37	c.2453	CCDS11284.2	17	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454887	0.63290	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.64991	-0.13;-0.13	5.97	5.97	0.96955	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.103112	0.64402	D	0.000005	T	0.66446	0.2790	N	0.24115	0.695	0.45930	D	0.998767	D;D	0.62365	0.991;0.991	P;P	0.57776	0.827;0.76	T	0.69072	-0.5242	10	0.72032	D	0.01	-13.7258	19.4162	0.94700	0.0:1.0:0.0:0.0	.	818;818	P49916;E5KLB6	DNLI3_HUMAN;.	C	818	ENSP00000367787:S818C;ENSP00000262327:S818C	ENSP00000262327:S818C	S	+	2	0	LIG3	30352510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.605000	0.54088	2.837000	0.97791	0.655000	0.94253	TCT	LIG3	-	superfamily_NA-bd_OB-fold-like,tigrfam_DNA_ligase_ATP-dep		0.527	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG3	HGNC	protein_coding	OTTHUMT00000250330.3	C	NM_013975		33328397	+1	no_errors	ENST00000378526	ensembl	human	known	70_37	missense	SNP	0.960	G
LIG4	3981	genome.wustl.edu	37	13	108862428	108862428	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:108862428G>A	ENST00000356922.4	-	2	1461	c.1189C>T	c.(1189-1191)Cca>Tca	p.P397S	LIG4_ENST00000405925.1_Missense_Mutation_p.P397S|LIG4_ENST00000442234.1_Missense_Mutation_p.P397S	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	397					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATTCTACCTGGAATTGGTGTA	0.313								Non-homologous end-joining																																									0													93.0	98.0	97.0					13																	108862428		2203	4298	6501	SO:0001583	missense	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1189C>T	13.37:g.108862428G>A	ENSP00000349393:p.Pro397Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IY66|Q8TEU5	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.P397S	ENST00000356922.4	37	c.1189	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.334041	0.01287	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.80824	-1.42;-1.42;-1.42	5.49	2.47	0.30058	DNA ligase, ATP-dependent, central (2);	0.358500	0.31257	N	0.007973	T	0.67664	0.2917	L	0.33624	1.015	0.21627	N	0.999615	B	0.06786	0.001	B	0.15870	0.014	T	0.54801	-0.8239	10	0.30078	T	0.28	.	8.86	0.35251	0.0:0.2335:0.5743:0.1922	.	397	P49917	DNLI4_HUMAN	S	397	ENSP00000385955:P397S;ENSP00000402030:P397S;ENSP00000349393:P397S	ENSP00000349393:P397S	P	-	1	0	LIG4	107660429	0.976000	0.34144	0.896000	0.35187	0.680000	0.39746	0.816000	0.27267	1.244000	0.43870	0.643000	0.83706	CCA	LIG4	-	pfam_DNA_ligase_ATP-dep_cent,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep		0.313	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	G	NM_002312		108862428	-1	no_errors	ENST00000356922	ensembl	human	known	70_37	missense	SNP	0.711	A
LILRA2	11027	genome.wustl.edu	37	19	55086320	55086320	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:55086320G>A	ENST00000251377.3	+	5	608	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.E147K|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.E159K|LILRA2_ENST00000251376.3_Missense_Mutation_p.E159K			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	159	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TAAGGAAGGAGAAGATGAACA	0.602																																																	0													187.0	169.0	175.0					19																	55086320		2203	4300	6503	SO:0001583	missense	11027			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.475G>A	19.37:g.55086320G>A	ENSP00000251377:p.Glu159Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O75020	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.E159K	ENST00000251377.3	37	c.475	CCDS46179.1	19	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235338	0.39498	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00705	5.81;5.81;5.81;5.81;5.81	2.84	0.519	0.17035	Immunoglobulin-like fold (1);	0.790982	0.10958	N	0.615275	T	0.02012	0.0063	M	0.75884	2.315	0.29266	N	0.871004	B;D;P;D	0.53885	0.012;0.963;0.798;0.962	B;P;B;P	0.55345	0.013;0.774;0.37;0.587	T	0.41233	-0.9520	10	0.32370	T	0.25	.	3.8839	0.09090	0.1515:0.2534:0.5951:0.0	.	159;147;159;159	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	K	159;159;159;159;147	ENSP00000388131:E159K;ENSP00000251377:E159K;ENSP00000375618:E159K;ENSP00000251376:E159K;ENSP00000375617:E147K	ENSP00000251376:E159K	E	+	1	0	LILRA2	59778132	0.282000	0.24268	0.109000	0.21407	0.006000	0.05464	0.239000	0.18023	0.065000	0.16485	0.508000	0.49915	GAA	LILRA2	-	smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.602	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRA2	HGNC	protein_coding	OTTHUMT00000140813.2	G			55086320	+1	no_errors	ENST00000251377	ensembl	human	known	70_37	missense	SNP	0.374	A
LIMD1	8994	genome.wustl.edu	37	3	45714190	45714190	+	Silent	SNP	A	A	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:45714190A>G	ENST00000273317.4	+	5	1671	c.1650A>G	c.(1648-1650)caA>caG	p.Q550Q	LIMD1_ENST00000465039.1_3'UTR|LIMD1_ENST00000440097.1_Silent_p.Q550Q	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	550	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.|Necessary for nuclear localization.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AGATCCTGCAAGCCCTGGGGA	0.532																																																	0													128.0	113.0	118.0					3																	45714190		2203	4300	6503	SO:0001819	synonymous_variant	8994			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1650A>G	3.37:g.45714190A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RQ1|Q9BQQ9|Q9NQ47	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.Q550	ENST00000273317.4	37	c.1650	CCDS2729.1	3																																																																																			LIMD1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.532	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMD1	HGNC	protein_coding	OTTHUMT00000257327.1	A	NM_014240		45714190	+1	no_errors	ENST00000273317	ensembl	human	known	70_37	silent	SNP	1.000	G
PSENEN	55851	genome.wustl.edu	37	19	36239657	36239657	+	IGR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:36239657C>G	ENST00000587708.2	+	0	1152				AC002398.11_ENST00000591091.1_RNA|LIN37_ENST00000301159.9_Nonsense_Mutation_p.S11*|AC002398.11_ENST00000585365.1_RNA|AC002398.9_ENST00000591613.2_Intron|LIN37_ENST00000591076.1_3'UTR			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit						amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGGAGAAATCAGGTGAGGAC	0.612																																																	0													109.0	116.0	114.0					19																	36239657		1922	4119	6041	SO:0001628	intergenic_variant	55957			AF220053	CCDS12474.1	19q13.12	2014-09-17	2013-09-12			ENSG00000205155			30100	protein-coding gene	gene with protein product		607632	"""presenilin enhancer 2 homolog (C. elegans)"""			12110170, 12660785	Standard	NM_172341		Approved	PEN2	uc002obi.1	Q9NZ42			19.37:g.36239657C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5L9	Nonsense_Mutation	SNP	NULL	p.S11*	ENST00000587708.2	37	c.32	CCDS12474.1	19	.	.	.	.	.	.	.	.	.	.	C	38	6.790451	0.97841	.	.	ENSG00000188223	ENST00000301159	.	.	.	5.88	5.88	0.94601	.	0.325896	0.29537	N	0.011871	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-8.0E-4	19.0137	0.92884	0.0:1.0:0.0:0.0	.	.	.	.	X	11	.	ENSP00000301159:S11X	S	+	2	0	LIN37	40931497	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.732000	0.47352	2.782000	0.95742	0.655000	0.94253	TCA	LIN37	-	NULL		0.612	PSENEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN37	HGNC	protein_coding	OTTHUMT00000459101.2	C	NM_172341		36239657	+1	no_errors	ENST00000301159	ensembl	human	known	70_37	nonsense	SNP	1.000	G
FAM230C	26080	genome.wustl.edu	37	22	21663369	21663369	+	lincRNA	SNP	T	T	C	rs374327074		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:21663369T>C	ENST00000436681.1	-	0	801																											CTGGGCGGCGTCCTCCTTGGC	0.731																																																	0																																												26080																															22.37:g.21663369T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000436681.1	37	NULL		22																																																																																			LINC00281	-	-		0.731	KB-1183D5.13-003	KNOWN	basic	lincRNA	LINC00281	HGNC	lincRNA	OTTHUMT00000320109.1	T			21663369	-1	no_errors	ENST00000436681	ensembl	human	known	70_37	rna	SNP	0.003	C
LINC00319	284836	genome.wustl.edu	37	21	44870122	44870122	+	lincRNA	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:44870122C>T	ENST00000448049.1	+	0	603									long intergenic non-protein coding RNA 319																		GAGAACATCTCACAGCCCTGC	0.647																																																	0																																												284836			AK095355		21q22.3	2013-05-31	2011-08-11	2011-08-11	ENSG00000188660	ENSG00000188660		"""Long non-coding RNAs"""	19730	non-coding RNA	RNA, long non-coding			"""chromosome 21 open reading frame 125"", ""non-protein coding RNA 319"""	C21orf125, NCRNA00319			Standard	NR_026960		Approved	PRED49, FLJ38036	uc002zdg.3		OTTHUMG00000086866		21.37:g.44870122C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000448049.1	37	NULL		21																																																																																			LINC00319	-	-		0.647	LINC00319-001	KNOWN	basic	lincRNA	LINC00319	HGNC	lincRNA	OTTHUMT00000195624.1	C	NR_026960		44870122	+1	no_errors	ENST00000342757	ensembl	human	known	70_37	rna	SNP	0.000	T
LINC00346	283487	genome.wustl.edu	37	13	111522044	111522044	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:111522044C>T	ENST00000538077.1	-	1	118	c.94G>A	c.(94-96)Gat>Aat	p.D32N				Q8IVM7	CM029_HUMAN	long intergenic non-protein coding RNA 346	32																	CTCTCCCCATCAGCACTAATG	0.557																																																	0													65.0	64.0	64.0					13																	111522044		692	1591	2283	SO:0001583	missense	283487					13q34	2014-06-17	2011-08-10	2011-08-10	ENSG00000255874	ENSG00000255874		"""Long non-coding RNAs"""	27492	non-coding RNA	RNA, long non-coding			"""chromosome 13 open reading frame 29"", ""non-protein coding RNA 346"""	C13orf29, NCRNA00346			Standard	NR_027701		Approved		uc001vrk.2	Q8IVM7	OTTHUMG00000187398	ENST00000538077.1:c.94G>A	13.37:g.111522044C>T	ENSP00000442216:p.Asp32Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.D32N	ENST00000538077.1	37	c.94		13	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276940	0.23307	.	.	ENSG00000255874	ENST00000538077	T	0.56103	0.48	0.771	-0.165	0.13355	.	.	.	.	.	T	0.44350	0.1289	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.44847	-0.9301	6	0.87932	D	0	.	3.0763	0.06247	0.0:0.6463:0.0:0.3537	.	.	.	.	N	32	ENSP00000442216:D32N	ENSP00000442216:D32N	D	-	1	0	NCRNA00346	110320045	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-2.104000	0.01340	-0.107000	0.12088	0.205000	0.17691	GAT	LINC00346	-	NULL		0.557	LINC00346-201	KNOWN	basic|appris_principal	protein_coding	LINC00346	HGNC	protein_coding		C	NR_027701		111522044	-1	no_errors	ENST00000538077	ensembl	human	known	70_37	missense	SNP	0.000	T
ERCC6L2	375748	genome.wustl.edu	37	9	98638102	98638102	+	5'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:98638102C>G	ENST00000288985.7	+	0	120				LINC00476_ENST00000429781.1_RNA	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2						DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										TGCCGCCGCTCCGGACGTCGC	0.677																																																	0																																										SO:0001623	5_prime_UTR_variant	100128782			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.-186C>G	9.37:g.98638102C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	RNA	SNP	-	NULL	ENST00000288985.7	37	NULL	CCDS35072.1	9																																																																																			LINC00476	-	-		0.677	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LINC00476	HGNC	protein_coding	OTTHUMT00000053247.2	C	NM_001010895		98638102	-1	no_errors	ENST00000321517	ensembl	human	known	70_37	rna	SNP	0.001	G
LINC00596	414767	genome.wustl.edu	37	14	24403723	24403723	+	lincRNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:24403723G>A	ENST00000559615.1	-	0	54							Q86U02	CN165_HUMAN	long intergenic non-protein coding RNA 596							integral component of membrane (GO:0016021)											GAAAGTAGCAGAGTGAACATG	0.478																																																	0																																												414767			BX161431, CR615368		14q11.2	2012-10-12	2012-04-30	2012-04-30	ENSG00000259334	ENSG00000259334		"""Long non-coding RNAs"""	23167	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 165"""	C14orf165			Standard			Approved	CNSLT1I7G		Q86U02	OTTHUMG00000171723		14.37:g.24403723G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000559615.1	37	NULL		14																																																																																			LINC00596	-	-		0.478	LINC00596-001	KNOWN	basic	lincRNA	LINC00596	HGNC	lincRNA	OTTHUMT00000415721.1	G			24403723	-1	no_errors	ENST00000559615	ensembl	human	known	70_37	rna	SNP	0.000	A
LINC00612	253128	genome.wustl.edu	37	12	9217250	9217250	+	RNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:9217250G>A	ENST00000538094.1	-	0	416				A2M-AS1_ENST00000499762.1_RNA	NR_034140.1		Q8N6U2	CL033_HUMAN	long intergenic non-protein coding RNA 612																		ggaccgggctgagtcgcccgc	0.736																																																	0																																												253128			BC028195		12p13.31	2012-10-12	2012-05-30	2012-05-30	ENSG00000214851	ENSG00000214851		"""Long non-coding RNAs"""	28621	non-coding RNA	RNA, long non-coding			"""chromosome 12 open reading frame 33"""	C12orf33		12477932	Standard	NR_034140		Approved	MGC40170, FLJ41814	uc009zgh.2	Q8N6U2	OTTHUMG00000168288		12.37:g.9217250G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW01	RNA	SNP	-	NULL	ENST00000538094.1	37	NULL		12																																																																																			LINC00612	-	-		0.736	LINC00612-001	KNOWN	basic	processed_transcript	LINC00612	HGNC	processed_transcript	OTTHUMT00000399174.1	G	NR_034140		9217250	-1	no_errors	ENST00000399104	ensembl	human	known	70_37	rna	SNP	0.004	A
LINGO4	339398	genome.wustl.edu	37	1	151773446	151773446	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:151773446C>G	ENST00000368820.3	-	2	2672	c.1735G>C	c.(1735-1737)Ggg>Cgg	p.G579R	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	579						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTTTTATCCCCAGAGGGCCGA	0.557																																																	0													67.0	71.0	69.0					1																	151773446		2203	4300	6503	SO:0001583	missense	339398				CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1735G>C	1.37:g.151773446C>G	ENSP00000357810:p.Gly579Arg	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G579R	ENST00000368820.3	37	c.1735	CCDS30855.1	1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943130	0.53079	.	.	ENSG00000213171	ENST00000368820	T	0.59906	0.23	5.32	5.32	0.75619	.	0.000000	0.48767	D	0.000162	T	0.58047	0.2095	L	0.43923	1.385	0.40198	D	0.97748	D	0.71674	0.998	D	0.68621	0.959	T	0.63129	-0.6706	10	0.87932	D	0	.	9.8267	0.40916	0.0:0.9099:0.0:0.0901	.	579	Q6UY18	LIGO4_HUMAN	R	579	ENSP00000357810:G579R	ENSP00000357810:G579R	G	-	1	0	LINGO4	150040070	0.913000	0.31002	0.999000	0.59377	0.992000	0.81027	1.781000	0.38644	2.760000	0.94817	0.655000	0.94253	GGG	LINGO4	-	NULL		0.557	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO4	HGNC	protein_coding	OTTHUMT00000036639.1	C	XM_291387		151773446	-1	no_errors	ENST00000368820	ensembl	human	known	70_37	missense	SNP	0.960	G
LNX1	84708	genome.wustl.edu	37	4	54347998	54347998	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:54347998G>A	ENST00000263925.7	-	7	1688	c.1374C>T	c.(1372-1374)ctC>ctT	p.L458L	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_Silent_p.L362L	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	458	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGGACACGACGAGGTGAACAC	0.577																																																	0													63.0	61.0	62.0					4																	54347998		2203	4300	6503	SO:0001819	synonymous_variant	84708			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1374C>T	4.37:g.54347998G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.L458	ENST00000263925.7	37	c.1374	CCDS47057.1	4																																																																																			LNX1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.577	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX1	HGNC	protein_coding	OTTHUMT00000219934.2	G			54347998	-1	no_errors	ENST00000263925	ensembl	human	known	70_37	silent	SNP	0.878	A
LOC100129434	100129434	genome.wustl.edu	37	2	56403137	56403137	+	RNA	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:56403137C>G	ENST00000596663.1	-	0	606				AC007743.1_ENST00000447423.2_RNA|RP11-482H16.1_ENST00000607540.1_RNA|RP11-481J13.1_ENST00000606639.1_lincRNA|AC007743.1_ENST00000432793.1_RNA																							TTGGCATTTTCTTCCCTTCGC	0.532																																																	0																																												100129434																															2.37:g.56403137C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000596663.1	37	NULL		2																																																																																			AC007743.1	-	-		0.532	AC007743.1-005	KNOWN	basic	antisense	LOC100129434	Clone_based_vega_gene	antisense	OTTHUMT00000470756.1	C			56403137	-1	no_errors	ENST00000432793	ensembl	human	known	70_37	rna	SNP	0.254	G
TRPA1	8989	genome.wustl.edu	37	8	72965869	72965869	+	Intron	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:72965869C>A	ENST00000262209.4	-	13	1852				RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1						calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCTAAACACCCAACAAAAGGC	0.433																																																	0																																										SO:0001627	intron_variant	100132891			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1644+118G>T	8.37:g.72965869C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIN6	RNA	SNP	-	NULL	ENST00000262209.4	37	NULL	CCDS34908.1	8																																																																																			RP11-383H13.1	-	-		0.433	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100132891	Clone_based_vega_gene	protein_coding	OTTHUMT00000379079.2	C	NM_007332		72965869	+1	no_errors	ENST00000457356	ensembl	human	known	70_37	rna	SNP	0.000	A
UGT1A6	54578	genome.wustl.edu	37	2	234663465	234663465	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:234663465C>G	ENST00000305139.6	+	2	1000				UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A6_ENST00000480628.1_3'UTR|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|AC114812.5_ENST00000450901.1_RNA|UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	AAACCACCCTCAAAAGCTGGA	0.517																																																	0																																										SO:0001627	intron_variant	100286922			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-12215C>G	2.37:g.234663465C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKK6|B8K289|Q96TE7	RNA	SNP	-	NULL	ENST00000305139.6	37	NULL	CCDS2507.1	2																																																																																			AC114812.5	-	-		0.517	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100286922	Clone_based_vega_gene	protein_coding	OTTHUMT00000130988.1	C	NM_205862		234663465	-1	no_errors	ENST00000450901	ensembl	human	known	70_37	rna	SNP	0.002	G
BAALC-AS1	100499183	genome.wustl.edu	37	8	104258641	104258641	+	RNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:104258641G>A	ENST00000499522.2	-	0	772				RP11-318M2.2_ENST00000521383.1_RNA|RP11-318M2.2_ENST00000519801.1_RNA|RP11-318M2.2_ENST00000523614.2_RNA																							AGAAAGCACAGATTTGAAGAC	0.478																																																	0																																												100499183																															8.37:g.104258641G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000499522.2	37	NULL		8																																																																																			RP11-318M2.2	-	-		0.478	RP11-318M2.2-004	KNOWN	basic	antisense	LOC100499183	Clone_based_vega_gene	antisense	OTTHUMT00000380348.1	G			104258641	-1	no_errors	ENST00000499522	ensembl	human	known	70_37	rna	SNP	0.000	A
PRKRIR	5612	genome.wustl.edu	37	11	76093214	76093214	+	5'Flank	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:76093214G>A	ENST00000260045.3	-	0	0				RP11-111M22.2_ENST00000531207.1_Intron|RP11-111M22.2_ENST00000530460.1_Missense_Mutation_p.M114I|RP11-111M22.2_ENST00000529331.1_Missense_Mutation_p.M114I|RP11-111M22.2_ENST00000321844.4_Missense_Mutation_p.M114I	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)						negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						ACTTGAACATGAGGAAGATTT	0.383																																																	0																																										SO:0001631	upstream_gene_variant	100506127			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280		11.37:g.76093214G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.M114I	ENST00000260045.3	37	c.342	CCDS8243.1	11	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067335	0.36470	.	.	ENSG00000179240	ENST00000530460;ENST00000321844;ENST00000529331	.	.	.	4.97	4.03	0.46877	.	.	.	.	.	T	0.22898	0.0553	N	0.08118	0	0.24767	N	0.992895	.	.	.	.	.	.	T	0.09552	-1.0669	6	0.48119	T	0.1	.	9.3763	0.38286	0.0993:0.0:0.9007:0.0	.	.	.	.	I	114	.	ENSP00000323821:M114I	M	+	3	0	RP11-111M22.2	75770862	1.000000	0.71417	0.997000	0.53966	0.850000	0.48378	3.415000	0.52700	2.588000	0.87417	0.462000	0.41574	ATG	RP11-111M22.2	-	NULL		0.383	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100506127	Clone_based_vega_gene	protein_coding	OTTHUMT00000383188.1	G	NM_004705		76093214	+1	no_errors	ENST00000529331	ensembl	human	putative	70_37	missense	SNP	0.998	A
LOC100507377	100507377	genome.wustl.edu	37	12	74679618	74679618	+	lincRNA	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:74679618G>C	ENST00000515416.2	-	0	395				RP11-274M17.3_ENST00000552046.1_lincRNA																							tcacatgtctgatagataatg	0.458																																																	0																																												100507377																															12.37:g.74679618G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000515416.2	37	NULL		12																																																																																			RP11-81H3.2	-	-		0.458	RP11-81H3.2-001	KNOWN	basic	lincRNA	LOC100507377	Clone_based_vega_gene	lincRNA	OTTHUMT00000405900.1	G			74679618	-1	no_errors	ENST00000551210	ensembl	human	known	70_37	rna	SNP	0.011	C
LOC400499	400499	genome.wustl.edu	37	16	11554965	11554965	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:11554965C>G	ENST00000344649.3	-	13	1733	c.201G>C	c.(199-201)gaG>gaC	p.E67D																								CCTCCTTCCTCTCCAGCAGTG	0.657																																																	0																																										SO:0001583	missense	101060360																														ENST00000344649.3:c.201G>C	16.37:g.11554965C>G	ENSP00000343456:p.Glu67Asp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E67D	ENST00000344649.3	37	c.201		16	.	.	.	.	.	.	.	.	.	.	C	6.307	0.424752	0.11987	.	.	ENSG00000188897	ENST00000344649	T	0.46819	0.86	3.59	1.58	0.23477	.	0.000000	0.64402	D	0.000004	T	0.42086	0.1187	L	0.55834	1.745	0.25558	N	0.987014	.	.	.	.	.	.	T	0.26744	-1.0094	8	0.42905	T	0.14	-20.3449	3.4883	0.07627	0.0:0.5345:0.2154:0.2501	.	.	.	.	D	67	ENSP00000343456:E67D	ENSP00000343456:E67D	E	-	3	2	AC099489.1	11462466	1.000000	0.71417	0.449000	0.26957	0.014000	0.08584	1.321000	0.33678	0.495000	0.27882	-0.439000	0.05793	GAG	CTD-3088G3.8	-	NULL		0.657	CTD-3088G3.8-201	KNOWN	basic|appris_principal	protein_coding	LOC101060360	Clone_based_vega_gene	protein_coding		C			11554965	-1	no_errors	ENST00000344649	ensembl	human	known	70_37	missense	SNP	0.998	G
LOC653786	653786	genome.wustl.edu	37	16	22558204	22558204	+	RNA	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:22558204G>C	ENST00000550753.1	+	0	1186					NR_003676.2																						GTTCCTGAAAGAAAAGGGTGC	0.448																																																	0																																												101060424																															16.37:g.22558204G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000550753.1	37	NULL		16																																																																																			RP11-368J21.3	-	-		0.448	RP11-368J21.3-001	KNOWN	basic	processed_transcript	LOC101060424	Clone_based_vega_gene	pseudogene	OTTHUMT00000409041.1	G			22558204	+1	no_errors	ENST00000550753	ensembl	human	known	70_37	rna	SNP	0.001	C
LOC653786	653786	genome.wustl.edu	37	16	22558354	22558354	+	RNA	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:22558354G>C	ENST00000550753.1	+	0	1336					NR_003676.2																						CTCAGGAGATGAATTAAGCTC	0.433																																																	0																																												101060424																															16.37:g.22558354G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000550753.1	37	NULL		16																																																																																			RP11-368J21.3	-	-		0.433	RP11-368J21.3-001	KNOWN	basic	processed_transcript	LOC101060424	Clone_based_vega_gene	pseudogene	OTTHUMT00000409041.1	G			22558354	+1	no_errors	ENST00000550753	ensembl	human	known	70_37	rna	SNP	0.998	C
SMG1P5	595101	genome.wustl.edu	37	16	30346634	30346634	+	RNA	SNP	G	G	A	rs551279114		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30346634G>A	ENST00000411546.3	-	0	61					NR_002453.4																						CTGGGGCCCCGGAGGACGAGG	0.766																																																	0																																												101060455																															16.37:g.30346634G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000411546.3	37	NULL		16																																																																																			RP11-347C12.2	-	-		0.766	RP11-347C12.2-003	KNOWN	basic	processed_transcript	LOC101060455	Clone_based_vega_gene	pseudogene	OTTHUMT00000434110.1	G			30346634	-1	no_errors	ENST00000411546	ensembl	human	known	70_37	rna	SNP	0.988	A
LOC645166	645166	genome.wustl.edu	37	1	148951275	148951275	+	lincRNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:148951275G>A	ENST00000539543.1	+	0	285					NR_027355.2																						ggtactggctgagttctggaa	0.478																																																	0																																												101060590																															1.37:g.148951275G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000539543.1	37	NULL		1																																																																																			RP11-14N7.2	-	-		0.478	RP11-14N7.2-201	KNOWN	basic	lincRNA	LOC101060590	Clone_based_vega_gene	lincRNA		G			148951275	+1	no_errors	ENST00000452399	ensembl	human	known	70_37	rna	SNP	0.014	A
TENC1	23371	genome.wustl.edu	37	12	53439202	53439202	+	5'Flank	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:53439202C>T	ENST00000379902.3	+	0	0				RP11-983P16.4_ENST00000546767.1_RNA|RP11-983P16.4_ENST00000550601.1_RNA|RP11-983P16.4_ENST00000546566.1_RNA|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000546793.1_RNA|RP11-983P16.4_ENST00000607643.1_RNA	NM_198316.1	NP_938072.1	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)						cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CGCCTGGCTTCCCCCACCCCC	0.572																																																	0																																										SO:0001631	upstream_gene_variant	283335			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730		12.37:g.53439202C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	RNA	SNP	-	NULL	ENST00000379902.3	37	NULL	CCDS8844.1	12																																																																																			RP11-983P16.4	-	-		0.572	TENC1-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	LOC283335	Clone_based_vega_gene	protein_coding	OTTHUMT00000405644.4	C	NM_170754		53439202	-1	no_errors	ENST00000546793	ensembl	human	known	70_37	rna	SNP	0.000	T
F11	2160	genome.wustl.edu	37	4	187209599	187209599	+	Intron	SNP	C	C	G	rs368217340		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:187209599C>G	ENST00000403665.2	+	15	2068				F11_ENST00000264692.4_Intron|F11-AS1_ENST00000505103.1_RNA	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TGTCTCCCCTCGTTCTAGGGA	0.532																																																	0													122.0	121.0	122.0					4																	187209599		2203	4300	6503	SO:0001627	intron_variant	285441			M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1717-8C>G	4.37:g.187209599C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DP64|Q4W5C2|Q9Y495	RNA	SNP	-	NULL	ENST00000403665.2	37	NULL	CCDS3847.1	4																																																																																			RP11-215A19.1	-	-		0.532	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC285441	Clone_based_vega_gene	protein_coding	OTTHUMT00000317519.4	C			187209599	-1	no_errors	ENST00000505103	ensembl	human	known	70_37	rna	SNP	0.000	G
RP5-1052I5.2	0	genome.wustl.edu	37	1	87598075	87598075	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:87598075C>T	ENST00000370548.2	+	7	839				RP5-1052I5.1_ENST00000484933.2_lincRNA|HS2ST1_ENST00000356813.4_Intron																							GCGCCGGCCTCGTCTCGGTGC	0.776																																																	0													9.0	11.0	10.0					1																	87598075		691	1582	2273	SO:0001627	intron_variant	339524																														ENST00000370548.2:c.767-1222C>T	1.37:g.87598075C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000370548.2	37	NULL		1																																																																																			RP5-1052I5.1	-	-		0.776	RP5-1052I5.2-001	PUTATIVE	basic|appris_principal|readthrough_transcript	protein_coding	LOC339524	Clone_based_vega_gene	protein_coding	OTTHUMT00000457517.1	C			87598075	+1	no_errors	ENST00000467438	ensembl	human	known	70_37	rna	SNP	0.003	T
LOC344967	344967	genome.wustl.edu	37	4	40045511	40045511	+	RNA	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:40045511C>G	ENST00000381811.2	-	0	638					NR_027277.1																						TAGGTGATCTCCGCGCTGACG	0.597																																																	0																																												344967																															4.37:g.40045511C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000381811.2	37	NULL		4																																																																																			RP11-333E13.4	-	-		0.597	RP11-333E13.4-002	KNOWN	basic	processed_transcript	LOC344967	Clone_based_vega_gene	pseudogene	OTTHUMT00000361278.1	C			40045511	-1	no_errors	ENST00000381811	ensembl	human	known	70_37	rna	SNP	0.996	G
LINC00937	389634	genome.wustl.edu	37	12	8543454	8543454	+	lincRNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:8543454G>A	ENST00000544461.1	-	0	492									long intergenic non-protein coding RNA 937																		GGGACGCCCCGAGAGGGTGGA	0.607																																																	0																																												389634			BC073935		12p13.31	2013-05-30			ENSG00000226091	ENSG00000226091		"""Long non-coding RNAs"""	48629	non-coding RNA	RNA, long non-coding							Standard	NR_024420		Approved				OTTHUMG00000168663		12.37:g.8543454G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000544461.1	37	NULL		12																																																																																			RP11-90D4.2	-	-		0.607	LINC00937-001	KNOWN	basic	lincRNA	LOC389634	Clone_based_vega_gene	lincRNA	OTTHUMT00000400511.1	G			8543454	-1	no_errors	ENST00000536864	ensembl	human	known	70_37	rna	SNP	0.001	A
KIAA2012	100652824	genome.wustl.edu	37	2	202979179	202979179	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:202979179G>A	ENST00000409515.3	+	11	2098				AC079354.3_ENST00000584624.1_RNA|AC079354.1_ENST00000295844.3_Intron|AC079354.3_ENST00000409819.1_RNA|AC079354.1_ENST00000541917.1_Intron																							GCAGGAGTTAGACAGGTGGAG	0.438																																																	0																																										SO:0001627	intron_variant	729224																														ENST00000409515.3:c.2098+1010G>A	2.37:g.202979179G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000409515.3	37	NULL		2																																																																																			AC079354.3	-	-		0.438	AC079354.1-001	KNOWN	basic	processed_transcript	LOC729224	Clone_based_vega_gene	protein_coding	OTTHUMT00000336161.2	G			202979179	-1	no_errors	ENST00000409819	ensembl	human	known	70_37	rna	SNP	0.294	A
CROCC2	728763	genome.wustl.edu	37	2	241925417	241925417	+	RNA	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:241925417C>G	ENST00000425110.1	-	0	72																											GCCGGCCTCTCAAGCTGTCTG	0.602																																																	0																																												728208																															2.37:g.241925417C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000425110.1	37	NULL		2																																																																																			AC104809.2	-	-		0.602	AC104809.2-001	KNOWN	basic|exp_conf	antisense	LOC728208	Clone_based_vega_gene	antisense	OTTHUMT00000324139.1	C			241925417	-1	no_errors	ENST00000425110	ensembl	human	known	70_37	rna	SNP	0.001	G
ABCC11	85320	genome.wustl.edu	37	16	48278451	48278451	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:48278451C>G	ENST00000356608.2	-	1	81				LONP2_ENST00000535754.1_Missense_Mutation_p.S51W|LONP2_ENST00000285737.4_Missense_Mutation_p.S51W|ABCC11_ENST00000537808.1_Intron			Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11						organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AAGGGCACGTCGCTGCAAAGC	0.716																																																	0													16.0	13.0	14.0					16																	48278451		2188	4283	6471	SO:0001627	intron_variant	83752			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000356608.2:c.17+2773G>C	16.37:g.48278451C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.S51W	ENST00000356608.2	37	c.152	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	C	34	5.394528	0.96009	.	.	ENSG00000102910	ENST00000285737;ENST00000535754;ENST00000416006	T;T;T	0.47528	0.84;0.84;0.84	5.21	5.21	0.72293	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.059384	0.64402	D	0.000001	T	0.70404	0.3220	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73408	-0.3992	10	0.87932	D	0	-5.4924	18.9329	0.92574	0.0:1.0:0.0:0.0	.	51;51	B7ZKL7;Q86WA8	.;LONP2_HUMAN	W	51	ENSP00000285737:S51W;ENSP00000445426:S51W;ENSP00000415983:S51W	ENSP00000285737:S51W	S	+	2	0	LONP2	46835952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.301000	0.78850	2.710000	0.92621	0.591000	0.81541	TCG	LONP2	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N,tigrfam_Pept_S16_lon		0.716	ABCC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256843.1	C	NM_032583		48278451	+1	no_errors	ENST00000285737	ensembl	human	known	70_37	missense	SNP	1.000	G
LOXHD1	125336	genome.wustl.edu	37	18	44126883	44126883	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:44126883G>C	ENST00000398722.4	-	15	2654	c.2655C>G	c.(2653-2655)ctC>ctG	p.L885L	LOXHD1_ENST00000579038.1_5'UTR|LOXHD1_ENST00000300591.6_Silent_p.L52L|LOXHD1_ENST00000582408.1_Silent_p.L52L|LOXHD1_ENST00000536736.1_Silent_p.L1163L|LOXHD1_ENST00000441551.2_Silent_p.L957L|LOXHD1_ENST00000441893.2_Silent_p.L96L			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	885					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						CCAGGTTGTCGAGGGGGTTGT	0.562																																																	0													77.0	87.0	84.0					18																	44126883		692	1591	2283	SO:0001819	synonymous_variant	125336			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.2655C>G	18.37:g.44126883G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Silent	SNP	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2	p.L1163	ENST00000398722.4	37	c.3489		18	.	.	.	.	.	.	.	.	.	.	G	9.078	0.998592	0.19121	.	.	ENSG00000167210	ENST00000441551	.	.	.	4.9	-8.21	0.01041	.	.	.	.	.	T	0.22742	0.0549	.	.	.	0.29295	N	0.869117	.	.	.	.	.	.	T	0.26224	-1.0109	4	.	.	.	.	4.7308	0.12964	0.6177:0.091:0.1136:0.1776	.	.	.	.	G	1144	.	.	R	-	1	2	LOXHD1	42380881	0.002000	0.14202	0.916000	0.36221	0.974000	0.67602	-0.988000	0.03739	-1.312000	0.02306	0.557000	0.71058	CGA	LOXHD1	-	NULL		0.562	LOXHD1-201	KNOWN	basic	protein_coding	LOXHD1	HGNC	protein_coding		G	NM_144612		44126883	-1	no_errors	ENST00000536736	ensembl	human	known	70_37	silent	SNP	0.095	C
LPA	4018	genome.wustl.edu	37	6	161026196	161026196	+	Missense_Mutation	SNP	C	C	T	rs369601677		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:161026196C>T	ENST00000316300.5	-	18	2871	c.2827G>A	c.(2827-2829)Gga>Aga	p.G943R	LPA_ENST00000447678.1_Missense_Mutation_p.G943R			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3451	Kringle 9. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTCCATTTCCGTGGTAGCAC	0.463																																																	0								C	ARG/GLY	1,4403	2.1+/-5.4	0,1,2201	282.0	291.0	288.0		2827	0.1	0.0	6		288	0,8600		0,0,4300	no	missense	LPA	NM_005577.2	125	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	943/2041	161026196	1,13003	2202	4300	6502	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2827G>A	6.37:g.161026196C>T	ENSP00000321334:p.Gly943Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G943R	ENST00000316300.5	37	c.2827	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	c	5.987	0.366029	0.11352	2.27E-4	0.0	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.67865	-0.29;-0.29	2.16	0.0839	0.14435	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.73636	0.3612	H	0.94222	3.51	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62618	-0.6816	9	0.27785	T	0.31	.	5.7666	0.18229	0.0:0.6847:0.0:0.3153	.	3451	P08519	APOA_HUMAN	R	943	ENSP00000321334:G943R;ENSP00000395608:G943R	ENSP00000321334:G943R	G	-	1	0	LPA	160946186	0.003000	0.15002	0.009000	0.14445	0.059000	0.15707	1.559000	0.36320	-0.251000	0.09542	-1.109000	0.02080	GGA	LPA	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.463	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	C	NM_005577		161026196	-1	no_errors	ENST00000316300	ensembl	human	known	70_37	missense	SNP	0.017	T
LPCAT2	54947	genome.wustl.edu	37	16	55584987	55584987	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:55584987G>C	ENST00000262134.5	+	11	1372	c.1188G>C	c.(1186-1188)ttG>ttC	p.L396F		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	396	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CAGATGTCTTGAGACAACTTT	0.348																																																	0													100.0	98.0	99.0					16																	55584987		2198	4300	6498	SO:0001583	missense	54947			AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.1188G>C	16.37:g.55584987G>C	ENSP00000262134:p.Leu396Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	pfam_EF-hand,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.L396F	ENST00000262134.5	37	c.1188	CCDS10753.1	16	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695226	0.68386	.	.	ENSG00000087253	ENST00000262134	T	0.79141	-1.24	5.68	2.46	0.29980	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.80454	0.4626	M	0.62723	1.935	0.80722	D	1	P	0.45672	0.864	P	0.53549	0.729	T	0.80079	-0.1532	10	0.66056	D	0.02	-24.8672	9.2162	0.37348	0.1422:0.1865:0.6713:0.0	.	396	Q7L5N7	PCAT2_HUMAN	F	396	ENSP00000262134:L396F	ENSP00000262134:L396F	L	+	3	2	LPCAT2	54142488	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.452000	0.21795	0.855000	0.35359	0.650000	0.86243	TTG	LPCAT2	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.348	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT2	HGNC	protein_coding	OTTHUMT00000256977.2	G	NM_017839		55584987	+1	no_errors	ENST00000262134	ensembl	human	known	70_37	missense	SNP	1.000	C
LPP	4026	genome.wustl.edu	37	3	188592179	188592179	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:188592179G>A	ENST00000312675.4	+	11	1997	c.1751G>A	c.(1750-1752)tGc>tAc	p.C584Y	LPP_ENST00000543006.1_Missense_Mutation_p.C584Y	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	584	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		AACCAAGGCTGCTACCCCTTG	0.502			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																			Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"""L, M"""	0													175.0	154.0	161.0					3																	188592179		2203	4300	6503	SO:0001583	missense	4026			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1751G>A	3.37:g.188592179G>A	ENSP00000318089:p.Cys584Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.C584Y	ENST00000312675.4	37	c.1751	CCDS3291.1	3	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859733	0.91433	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	D;D	0.87029	-2.2;-2.2	5.79	5.79	0.91817	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.95924	0.8673	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.996;1.0	D	0.96223	0.9162	10	0.52906	T	0.07	.	19.0299	0.92952	0.0:0.0:1.0:0.0	.	437;584	B7Z8W0;Q93052	.;LPP_HUMAN	Y	584	ENSP00000318089:C584Y;ENSP00000438891:C584Y	ENSP00000318089:C584Y	C	+	2	0	LPP	190074873	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	TGC	LPP	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.502	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPP	HGNC	protein_coding	OTTHUMT00000344030.1	G	NM_005578		188592179	+1	no_errors	ENST00000312675	ensembl	human	known	70_37	missense	SNP	1.000	A
LPPR3	79948	genome.wustl.edu	37	19	814735	814735	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:814735G>C	ENST00000520876.3	-	6	692	c.614C>G	c.(613-615)tCc>tGc	p.S205C	LPPR3_ENST00000359894.2_Missense_Mutation_p.S205C|MIR3187_ENST00000583431.1_RNA	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		205						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										GGCGTGCTGGGACGGGAAGGT	0.672																																																	0													44.0	36.0	39.0					19																	814735		2191	4298	6489	SO:0001583	missense	79948																														ENST00000520876.3:c.614C>G	19.37:g.814735G>C	ENSP00000430297:p.Ser205Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.S205C	ENST00000520876.3	37	c.614	CCDS58636.1	19	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519890	0.85495	.	.	ENSG00000129951	ENST00000300947;ENST00000359894;ENST00000520876	D;D	0.99005	-5.32;-5.32	4.77	4.77	0.60923	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99402	0.9789	M	0.92077	3.27	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.986;1.0;0.972	D	0.98667	1.0686	10	0.54805	T	0.06	-0.1111	14.9274	0.70890	0.0:0.0:1.0:0.0	.	206;205;205	Q6T4P5-2;Q6T4P5;Q6T4P5-3	.;LPPR3_HUMAN;.	C	206;205;205	ENSP00000352962:S205C;ENSP00000430297:S205C	ENSP00000300947:S206C	S	-	2	0	AC006273.1	765735	1.000000	0.71417	0.595000	0.28798	0.869000	0.49853	9.330000	0.96422	2.195000	0.70347	0.555000	0.69702	TCC	LPPR3	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase		0.672	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR3	Uniprot_genename	protein_coding	OTTHUMT00000379096.3	G			814735	-1	no_errors	ENST00000359894	ensembl	human	known	70_37	missense	SNP	0.998	C
LPPR3	79948	genome.wustl.edu	37	19	815241	815241	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:815241G>C	ENST00000520876.3	-	4	426	c.348C>G	c.(346-348)atC>atG	p.I116M	LPPR3_ENST00000359894.2_Missense_Mutation_p.I116M|MIR3187_ENST00000583431.1_RNA	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		116						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										CGCCGGCGTTGATGCTGCCCT	0.682																																																	0													16.0	20.0	19.0					19																	815241		2155	4254	6409	SO:0001583	missense	79948																														ENST00000520876.3:c.348C>G	19.37:g.815241G>C	ENSP00000430297:p.Ile116Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.I116M	ENST00000520876.3	37	c.348	CCDS58636.1	19	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574349	0.65878	.	.	ENSG00000129951	ENST00000300947;ENST00000359894;ENST00000520876;ENST00000521445	T;T	0.51325	0.71;0.71	4.33	4.33	0.51752	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.65165	0.2665	M	0.64997	1.995	0.33945	D	0.643688	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.993;0.972	T	0.76862	-0.2802	10	0.72032	D	0.01	-12.6153	14.3166	0.66454	0.0:0.0:1.0:0.0	.	116;116;116	Q6T4P5-2;Q6T4P5;Q6T4P5-3	.;LPPR3_HUMAN;.	M	116	ENSP00000352962:I116M;ENSP00000430297:I116M	ENSP00000300947:I116M	I	-	3	3	AC006273.1	766241	1.000000	0.71417	0.991000	0.47740	0.851000	0.48451	1.884000	0.39668	1.952000	0.56665	0.462000	0.41574	ATC	LPPR3	-	superfamily_P_Acid_Pase_2/haloperoxidase		0.682	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR3	Uniprot_genename	protein_coding	OTTHUMT00000379096.3	G			815241	-1	no_errors	ENST00000359894	ensembl	human	known	70_37	missense	SNP	0.998	C
LRCH1	23143	genome.wustl.edu	37	13	47255939	47255939	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:47255939G>A	ENST00000389798.3	+	4	840	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	LRCH1_ENST00000311191.6_Missense_Mutation_p.E215K|LRCH1_ENST00000389797.3_Missense_Mutation_p.E215K	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	215										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ATCTCTACGAGAACTGAATGT	0.368																																																	0													71.0	69.0	69.0					13																	47255939		2203	4300	6503	SO:0001583	missense	23143			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.643G>A	13.37:g.47255939G>A	ENSP00000374448:p.Glu215Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.E215K	ENST00000389798.3	37	c.643	CCDS31972.1	13	.	.	.	.	.	.	.	.	.	.	.	32	5.127853	0.94473	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.57907	0.37;0.37;0.37	5.55	5.55	0.83447	.	0.101878	0.64402	D	0.000004	T	0.56848	0.2013	N	0.21142	0.635	0.58432	D	0.999997	P;D;P;B	0.62365	0.875;0.991;0.849;0.272	P;P;B;B	0.59487	0.549;0.858;0.414;0.186	T	0.53732	-0.8397	10	0.33141	T	0.24	-8.2012	18.6047	0.91262	0.0:0.0:1.0:0.0	.	215;215;215;215	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	K	215	ENSP00000308493:E215K;ENSP00000374448:E215K;ENSP00000374447:E215K	ENSP00000308493:E215K	E	+	1	0	LRCH1	46153940	1.000000	0.71417	0.979000	0.43373	0.960000	0.62799	9.167000	0.94773	2.641000	0.89580	0.531000	0.56144	GAA	LRCH1	-	smart_Leu-rich_rpt_typical-subtyp		0.368	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2	G	NM_015116		47255939	+1	no_errors	ENST00000389798	ensembl	human	known	70_37	missense	SNP	1.000	A
LRCH3	84859	genome.wustl.edu	37	3	197574839	197574839	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:197574839G>C	ENST00000425562.2	+	12	1477	c.1477G>C	c.(1477-1479)Gag>Cag	p.E493Q	LRCH3_ENST00000441090.2_Missense_Mutation_p.E339Q|LRCH3_ENST00000536618.1_Missense_Mutation_p.E88Q|LRCH3_ENST00000334859.4_Missense_Mutation_p.E493Q|LRCH3_ENST00000414675.2_Missense_Mutation_p.E465Q|LRCH3_ENST00000438796.2_Missense_Mutation_p.E493Q			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	493						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GTATGAGGAGGAGAAAATAAG	0.512																																																	0													116.0	107.0	110.0					3																	197574839		2203	4300	6503	SO:0001583	missense	84859			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1477G>C	3.37:g.197574839G>C	ENSP00000393579:p.Glu493Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.E493Q	ENST00000425562.2	37	c.1477		3	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470826	0.84533	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618;ENST00000452660	T;T;T;T;T;T;T	0.70164	1.79;1.16;1.07;2.05;1.8;0.47;-0.46	5.49	5.49	0.81192	.	0.107189	0.64402	D	0.000009	T	0.73528	0.3598	L	0.34521	1.04	0.38463	D	0.947264	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;P	0.85130	0.982;0.997;0.992;0.974;0.894	T	0.71192	-0.4665	10	0.25751	T	0.34	-12.6355	17.2024	0.86909	0.0:0.0:1.0:0.0	.	339;465;493;493;493	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3	.;.;.;LRCH3_HUMAN;.	Q	493;339;465;493;493;88;4	ENSP00000399751:E493Q;ENSP00000394609:E339Q;ENSP00000394965:E465Q;ENSP00000334375:E493Q;ENSP00000393579:E493Q;ENSP00000439083:E88Q;ENSP00000395309:E4Q	ENSP00000334375:E493Q	E	+	1	0	LRCH3	199059236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.250000	0.72435	2.588000	0.87417	0.644000	0.83932	GAG	LRCH3	-	NULL		0.512	LRCH3-006	KNOWN	basic	protein_coding	LRCH3	HGNC	protein_coding	OTTHUMT00000339965.1	G	NM_032773		197574839	+1	no_errors	ENST00000438796	ensembl	human	known	70_37	missense	SNP	1.000	C
LRIF1	55791	genome.wustl.edu	37	1	111494681	111494681	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:111494681C>G	ENST00000369763.4	-	2	1215	c.825G>C	c.(823-825)gaG>gaC	p.E275D	LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TCAATTGTGTCTCTGTAGCAA	0.373																																																	0													160.0	153.0	155.0					1																	111494681		2203	4300	6503	SO:0001583	missense	55791			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.825G>C	1.37:g.111494681C>G	ENSP00000358778:p.Glu275Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	NULL	p.E275D	ENST00000369763.4	37	c.825	CCDS30800.1	1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523468	0.27299	.	.	ENSG00000121931	ENST00000369763	T	0.23950	1.88	5.78	3.29	0.37713	.	0.354244	0.30235	N	0.010099	T	0.04407	0.0121	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.17137	-1.0379	10	0.32370	T	0.25	-4.4084	6.438	0.21835	0.1977:0.6691:0.0:0.1331	.	275	Q5T3J3	LRIF1_HUMAN	D	275	ENSP00000358778:E275D	ENSP00000358778:E275D	E	-	3	2	LRIF1	111296204	0.740000	0.28207	1.000000	0.80357	0.981000	0.71138	0.424000	0.21330	1.094000	0.41399	0.591000	0.81541	GAG	LRIF1	-	NULL		0.373	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRIF1	HGNC	protein_coding	OTTHUMT00000032932.2	C	NM_018372		111494681	-1	no_errors	ENST00000369763	ensembl	human	known	70_37	missense	SNP	0.972	G
LRIG2	9860	genome.wustl.edu	37	1	113616103	113616103	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:113616103C>T	ENST00000361127.5	+	1	273	c.75C>T	c.(73-75)ctC>ctT	p.L25L	RP11-31F15.2_ENST00000421157.1_lincRNA	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	25					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTCGGTTACTCTTCATTGCCC	0.662											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													135.0	152.0	146.0					1																	113616103		2203	4300	6503	SO:0001819	synonymous_variant	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.75C>T	1.37:g.113616103C>T		Somatic	1451	WXS	Illumina HiSeq	Phase_IV	Q9NSN2	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L25	ENST00000361127.5	37	c.75	CCDS30808.1	1																																																																																			LRIG2	-	NULL		0.662	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	C	NM_014813		113616103	+1	no_errors	ENST00000361127	ensembl	human	known	70_37	silent	SNP	0.002	T
LRIT2	340745	genome.wustl.edu	37	10	85984189	85984189	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:85984189G>A	ENST00000372113.4	-	2	797	c.792C>T	c.(790-792)atC>atT	p.I264I	LRIT2_ENST00000538192.1_Silent_p.I264I	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	264	Ig-like.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GTCCTGCCCGGATGGTGATAT	0.537																																																	0													108.0	94.0	99.0					10																	85984189		2203	4300	6503	SO:0001819	synonymous_variant	340745				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.792C>T	10.37:g.85984189G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZME6	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I264	ENST00000372113.4	37	c.792	CCDS31234.1	10																																																																																			LRIT2	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.537	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT2	HGNC	protein_coding	OTTHUMT00000049110.4	G	XM_291697		85984189	-1	no_errors	ENST00000538192	ensembl	human	known	70_37	silent	SNP	0.052	A
LRMP	4033	genome.wustl.edu	37	12	25185115	25185115	+	IGR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:25185115G>A	ENST00000556485.1	+	0	0							Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein						immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					AACCATCATAGAATATGGAAG	0.323																																																	0																																										SO:0001628	intergenic_variant	4033				CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192		12.37:g.25185115G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVM2|B4E077|Q8N301	RNA	SNP	-	NULL	ENST00000556485.1	37	NULL		12																																																																																			LRMP	-	-		0.323	LRMP-009	KNOWN	basic	processed_transcript	LRMP	HGNC	protein_coding	OTTHUMT00000410498.1	G	NM_006152		25185115	+1	no_errors	ENST00000557270	ensembl	human	known	70_37	rna	SNP	0.164	A
LRP1	4035	genome.wustl.edu	37	12	57538819	57538819	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:57538819C>T	ENST00000243077.3	+	5	979	c.513C>T	c.(511-513)ttC>ttT	p.F171F	LRP1_ENST00000338962.4_Silent_p.F171F|LRP1_ENST00000554174.1_Silent_p.F171F|LRP1_ENST00000553277.1_Silent_p.F171F|RP11-545N8.3_ENST00000554476.1_RNA|RP11-545N8.3_ENST00000555461.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	171	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACGGCTCCTTCATATGTGGCT	0.547																																																	0													89.0	77.0	81.0					12																	57538819		2203	4300	6503	SO:0001819	synonymous_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.513C>T	12.37:g.57538819C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.F171	ENST00000243077.3	37	c.513	CCDS8932.1	12																																																																																			LRP1	-	smart_EGF-like_Ca-bd,smart_EG-like_dom		0.547	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	C	NM_002332		57538819	+1	no_errors	ENST00000243077	ensembl	human	known	70_37	silent	SNP	0.997	T
LRP12	29967	genome.wustl.edu	37	8	105511574	105511574	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:105511574C>G	ENST00000276654.5	-	4	554	c.446G>C	c.(445-447)aGa>aCa	p.R149T	LRP12_ENST00000424843.2_Missense_Mutation_p.R130T	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	149	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.R149T(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAAACCCTTTCTAGAGATGTT	0.373																																																	1	Substitution - Missense(1)	endometrium(1)											126.0	129.0	128.0					8																	105511574		2203	4300	6503	SO:0001583	missense	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.446G>C	8.37:g.105511574C>G	ENSP00000276654:p.Arg149Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.R130T	ENST00000276654.5	37	c.389	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283396	0.40394	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	T;T	0.18502	2.21;2.21	5.63	4.75	0.60458	CUB (5);	0.088279	0.85682	D	0.000000	T	0.22399	0.0540	M	0.62266	1.93	0.80722	D	1	P;P	0.37176	0.531;0.586	B;B	0.40165	0.215;0.321	T	0.01998	-1.1232	10	0.29301	T	0.29	-18.0907	14.1004	0.65051	0.0:0.9284:0.0:0.0716	.	130;149	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	T	130;149	ENSP00000399148:R130T;ENSP00000276654:R149T	ENSP00000276654:R149T	R	-	2	0	LRP12	105580750	0.727000	0.28069	0.542000	0.28115	0.969000	0.65631	3.455000	0.52993	1.378000	0.46305	0.557000	0.71058	AGA	LRP12	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.373	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	C	NM_013437		105511574	-1	no_errors	ENST00000424843	ensembl	human	known	70_37	missense	SNP	0.886	G
LRP12	29967	genome.wustl.edu	37	8	105544149	105544149	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:105544149G>A	ENST00000276654.5	-	2	230	c.122C>T	c.(121-123)tCa>tTa	p.S41L	LRP12_ENST00000424843.2_Intron	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	41					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGACACTCCTGAAATATGCAC	0.284																																																	0													74.0	79.0	77.0					8																	105544149		2202	4295	6497	SO:0001583	missense	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.122C>T	8.37:g.105544149G>A	ENSP00000276654:p.Ser41Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.S41L	ENST00000276654.5	37	c.122	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123563	0.77436	.	.	ENSG00000147650	ENST00000276654;ENST00000523830	D	0.84223	-1.82	5.65	5.65	0.86999	.	0.168439	0.41605	D	0.000847	D	0.85191	0.5640	N	0.14661	0.345	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	D	0.87133	0.2198	10	0.56958	D	0.05	-15.6049	17.9084	0.88926	0.0:0.0:1.0:0.0	.	41	Q9Y561	LRP12_HUMAN	L	41	ENSP00000276654:S41L	ENSP00000276654:S41L	S	-	2	0	LRP12	105613325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.069000	0.71209	2.681000	0.91329	0.563000	0.77884	TCA	LRP12	-	NULL		0.284	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	G	NM_013437		105544149	-1	no_errors	ENST00000276654	ensembl	human	novel	70_37	missense	SNP	1.000	A
LRP1B	53353	genome.wustl.edu	37	2	141812716	141812716	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:141812716G>C	ENST00000389484.3	-	10	2492	c.1521C>G	c.(1519-1521)ttC>ttG	p.F507L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	507	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCCAAGTTGAAGCCAGTCC	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													109.0	95.0	100.0					2																	141812716		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1521C>G	2.37:g.141812716G>C	ENSP00000374135:p.Phe507Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.F507L	ENST00000389484.3	37	c.1521	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081531	0.76528	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97620	-4.46	5.45	4.58	0.56647	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.072669	0.56097	U	0.000035	D	0.94082	0.8103	L	0.45470	1.425	0.49483	D	0.999798	B	0.34372	0.451	B	0.30179	0.112	D	0.92378	0.5911	10	0.24483	T	0.36	.	14.1792	0.65562	0.0721:0.0:0.9279:0.0	.	507	Q9NZR2	LRP1B_HUMAN	L	507;445	ENSP00000374135:F507L	ENSP00000374135:F507L	F	-	3	2	LRP1B	141529186	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.595000	0.74109	1.318000	0.45170	-0.259000	0.10710	TTC	LRP1B	-	superfamily_Growth_fac_rcpt,smart_EG-like_dom		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	G	NM_018557		141812716	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	C
LRP2	4036	genome.wustl.edu	37	2	170131735	170131735	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:170131735G>A	ENST00000263816.3	-	14	2071	c.1786C>T	c.(1786-1788)Cat>Tat	p.H596Y	LRP2_ENST00000443831.1_Missense_Mutation_p.H527Y	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	596					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GAGCCTCCATGAACTACAGTC	0.363																																																	0													93.0	81.0	85.0					2																	170131735		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1786C>T	2.37:g.170131735G>A	ENSP00000263816:p.His596Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.H596Y	ENST00000263816.3	37	c.1786	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033466	0.35893	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.91011	-2.77;-2.76	5.97	1.93	0.25924	Six-bladed beta-propeller, TolB-like (1);	0.524946	0.23642	N	0.046012	D	0.89825	0.6827	L	0.43701	1.375	0.31592	N	0.653823	P;P	0.48294	0.908;0.888	P;B	0.49853	0.624;0.443	D	0.89173	0.3538	10	0.62326	D	0.03	.	15.5324	0.75974	0.0:0.0:0.5255:0.4745	.	527;596	E9PC35;P98164	.;LRP2_HUMAN	Y	596;527	ENSP00000263816:H596Y;ENSP00000409813:H527Y	ENSP00000263816:H596Y	H	-	1	0	LRP2	169839981	1.000000	0.71417	0.001000	0.08648	0.550000	0.35303	3.766000	0.55280	0.065000	0.16485	0.655000	0.94253	CAT	LRP2	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.363	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170131735	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	0.886	A
LRP2	4036	genome.wustl.edu	37	2	170134304	170134304	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:170134304C>G	ENST00000263816.3	-	13	2008	c.1723G>C	c.(1723-1725)Gac>Cac	p.D575H	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	575					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.D575N(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AACCGAGAGTCAACCCAGTAA	0.408																																																	1	Substitution - Missense(1)	urinary_tract(1)											133.0	129.0	130.0					2																	170134304		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1723G>C	2.37:g.170134304C>G	ENSP00000263816:p.Asp575His	Somatic		WXS	Illumina HiSeq	Phase_IV	O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D575H	ENST00000263816.3	37	c.1723	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677390	0.68042	.	.	ENSG00000081479	ENST00000263816	D	0.93906	-3.31	5.7	5.7	0.88788	Six-bladed beta-propeller, TolB-like (1);	0.043758	0.85682	D	0.000000	D	0.97390	0.9146	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97725	1.0199	10	0.87932	D	0	.	19.8176	0.96576	0.0:1.0:0.0:0.0	.	575	P98164	LRP2_HUMAN	H	575	ENSP00000263816:D575H	ENSP00000263816:D575H	D	-	1	0	LRP2	169842550	1.000000	0.71417	0.888000	0.34837	0.196000	0.23810	7.723000	0.84788	2.680000	0.91292	0.555000	0.69702	GAC	LRP2	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.408	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	C	NM_004525		170134304	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	1.000	G
LRP2	4036	genome.wustl.edu	37	2	170136053	170136053	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:170136053G>A	ENST00000263816.3	-	12	1679	c.1394C>T	c.(1393-1395)tCt>tTt	p.S465F	LRP2_ENST00000443831.1_Missense_Mutation_p.S465F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	465					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GGTTTCAACAGAAACATTGAG	0.348																																																	0													70.0	75.0	74.0					2																	170136053		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1394C>T	2.37:g.170136053G>A	ENSP00000263816:p.Ser465Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S465F	ENST00000263816.3	37	c.1394	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274971	0.80580	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.91464	-2.85;-2.85	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	0.059776	0.64402	D	0.000001	D	0.93759	0.8005	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.92562	0.6059	9	.	.	.	.	19.5773	0.95450	0.0:0.0:1.0:0.0	.	465;465	E9PC35;P98164	.;LRP2_HUMAN	F	465	ENSP00000263816:S465F;ENSP00000409813:S465F	.	S	-	2	0	LRP2	169844299	1.000000	0.71417	0.972000	0.41901	0.891000	0.51852	9.781000	0.99029	2.643000	0.89663	0.650000	0.86243	TCT	LRP2	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.348	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170136053	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	1.000	A
LRRC16B	90668	genome.wustl.edu	37	14	24526137	24526137	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:24526137C>T	ENST00000342740.5	+	13	1120	c.966C>T	c.(964-966)ctC>ctT	p.L322L	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	322						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TCCAGGCACTCGGCCAGACCT	0.627																																																	0													38.0	43.0	41.0					14																	24526137		2203	4300	6503	SO:0001819	synonymous_variant	90668			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.966C>T	14.37:g.24526137C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TEF7|Q96HS9	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L322	ENST00000342740.5	37	c.966	CCDS32054.1	14																																																																																			LRRC16B	-	NULL		0.627	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	C	NM_138360		24526137	+1	no_errors	ENST00000342740	ensembl	human	known	70_37	silent	SNP	1.000	T
LRRC23	10233	genome.wustl.edu	37	12	7023336	7023336	+	3'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:7023336G>A	ENST00000007969.8	+	0	1558				ENO2_ENST00000229277.1_5'Flank|ENO2_ENST00000538763.1_5'Flank|ENO2_ENST00000545045.2_5'Flank|LRRC23_ENST00000323702.5_3'UTR|ENO2_ENST00000544774.1_5'Flank|ENO2_ENST00000541477.1_5'Flank|LRRC23_ENST00000443597.2_3'UTR|ENO2_ENST00000535366.1_5'Flank	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23											NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						GGAGTGGTTGGAGAGACTTGC	0.627																																																	0																																										SO:0001624	3_prime_UTR_variant	10233			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.*306G>A	12.37:g.7023336G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	RNA	SNP	-	NULL	ENST00000007969.8	37	NULL	CCDS8569.1	12																																																																																			LRRC23	-	-		0.627	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC23	HGNC	protein_coding	OTTHUMT00000345214.1	G	NM_006992		7023336	+1	no_errors	ENST00000472633	ensembl	human	known	70_37	rna	SNP	0.000	A
LRRC31	79782	genome.wustl.edu	37	3	169587570	169587570	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:169587570G>A	ENST00000316428.5	-	1	83	c.26C>T	c.(25-27)tCc>tTc	p.S9F	LRRC31_ENST00000523069.1_Missense_Mutation_p.S9F|LRRC31_ENST00000264676.5_Missense_Mutation_p.S9F|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	9										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TCCTTCTGAGGAAGTTTTCTT	0.408																																																	0													130.0	118.0	122.0					3																	169587570		1826	4085	5911	SO:0001583	missense	79782			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.26C>T	3.37:g.169587570G>A	ENSP00000325978:p.Ser9Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S9F	ENST00000316428.5	37	c.26	CCDS43167.1	3	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185981	0.38609	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.16073	2.8;2.37;3.04	5.0	3.12	0.35913	.	0.453330	0.19490	N	0.113014	T	0.20981	0.0505	L	0.29908	0.895	0.09310	N	1	D;P	0.54964	0.969;0.948	P;P	0.53809	0.735;0.671	T	0.04360	-1.0957	10	0.72032	D	0.01	.	11.207	0.48775	0.0:0.4013:0.5987:0.0	.	9;9	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	F	9	ENSP00000325978:S9F;ENSP00000264676:S9F;ENSP00000429145:S9F	ENSP00000264676:S9F	S	-	2	0	LRRC31	171070264	0.001000	0.12720	0.001000	0.08648	0.575000	0.36095	0.649000	0.24843	0.618000	0.30179	0.563000	0.77884	TCC	LRRC31	-	NULL		0.408	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1	G	NM_024727		169587570	-1	no_errors	ENST00000316428	ensembl	human	known	70_37	missense	SNP	0.001	A
LRRC32	2615	genome.wustl.edu	37	11	76368683	76368683	+	3'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:76368683C>G	ENST00000407242.2	-	0	4196				LRRC32_ENST00000464145.1_5'UTR|AP001189.4_ENST00000447519.1_RNA|RP11-672A2.4_ENST00000531511.1_lincRNA|LRRC32_ENST00000260061.5_3'UTR|LRRC32_ENST00000404995.1_3'UTR	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32						negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GTAGTGTTTTCAAAGATCAGG	0.557																																																	0																																										SO:0001624	3_prime_UTR_variant	2615			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.*1965G>C	11.37:g.76368683C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86V06	RNA	SNP	-	NULL	ENST00000407242.2	37	NULL	CCDS8245.1	11																																																																																			LRRC32	-	-		0.557	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	C	NM_005512		76368683	-1	no_errors	ENST00000464145	ensembl	human	putative	70_37	rna	SNP	0.918	G
LRRC32	2615	genome.wustl.edu	37	11	76371754	76371754	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:76371754C>G	ENST00000407242.2	-	3	1125	c.883G>C	c.(883-885)Gag>Cag	p.E295Q	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.E295Q|LRRC32_ENST00000404995.1_Missense_Mutation_p.E295Q	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	295					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GACCAGCCCTCGGAAGGTGCG	0.627																																																	0													31.0	32.0	31.0					11																	76371754		2200	4292	6492	SO:0001583	missense	2615			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.883G>C	11.37:g.76371754C>G	ENSP00000384126:p.Glu295Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86V06	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.E295Q	ENST00000407242.2	37	c.883	CCDS8245.1	11	.	.	.	.	.	.	.	.	.	.	C	8.129	0.782744	0.16189	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.36340	1.26;1.26;1.26	4.55	2.47	0.30058	.	0.734743	0.13404	N	0.390378	T	0.19046	0.0457	N	0.19112	0.55	0.32513	N	0.537292	B	0.22683	0.073	B	0.18561	0.022	T	0.18871	-1.0323	10	0.26408	T	0.33	.	3.6993	0.08376	0.0:0.5704:0.2642:0.1654	.	295	Q14392	LRC32_HUMAN	Q	295	ENSP00000260061:E295Q;ENSP00000384126:E295Q;ENSP00000385766:E295Q	ENSP00000260061:E295Q	E	-	1	0	LRRC32	76049402	0.992000	0.36948	0.329000	0.25429	0.108000	0.19459	0.878000	0.28126	1.114000	0.41781	0.555000	0.69702	GAG	LRRC32	-	NULL		0.627	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	C	NM_005512		76371754	-1	no_errors	ENST00000260061	ensembl	human	known	70_37	missense	SNP	0.707	G
LRRC37A2	474170	genome.wustl.edu	37	17	44630796	44630796	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:44630796G>A	ENST00000576629.1	+	12	5335	c.4840G>A	c.(4840-4842)Gat>Aat	p.D1614N	ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.D1614N			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1614						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		ATTACAAGAAGATGAAGAAGG	0.373																																																	0													46.0	84.0	71.0					17																	44630796		2196	4291	6487	SO:0001583	missense	474170			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4840G>A	17.37:g.44630796G>A	ENSP00000459551:p.Asp1614Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZMC3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D1614N	ENST00000576629.1	37	c.4840	CCDS42353.1	17	.	.	.	.	.	.	.	.	.	.	g	11.64	1.700255	0.30142	.	.	ENSG00000238083	ENST00000333412	T	0.48836	0.8	2.45	0.143	0.14820	.	.	.	.	.	T	0.34745	0.0908	L	0.47716	1.5	0.09310	N	1	B;P	0.42827	0.395;0.791	B;B	0.38020	0.221;0.263	T	0.21999	-1.0229	9	0.62326	D	0.03	.	4.5532	0.12124	0.0:0.2514:0.4914:0.2572	.	575;1614	B3KRJ4;A6NM11	.;L37A2_HUMAN	N	1614	ENSP00000333071:D1614N	ENSP00000333071:D1614N	D	+	1	0	LRRC37A2	41986112	0.001000	0.12720	0.000000	0.03702	0.107000	0.19398	0.137000	0.15995	0.096000	0.17463	0.152000	0.16155	GAT	LRRC37A2	-	NULL		0.373	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A2	HGNC	protein_coding	OTTHUMT00000440299.2	G	NM_001006607		44630796	+1	no_errors	ENST00000333412	ensembl	human	known	70_37	missense	SNP	0.000	A
LRRC37A4P	55073	genome.wustl.edu	37	17	43585779	43585779	+	RNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:43585779G>A	ENST00000579913.1	-	0	1570				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		CATCCTAGAAGATAGAAAGGG	0.458																																																	0																																												55073			AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43585779G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000579913.1	37	NULL		17																																																																																			LRRC37A4P	-	-		0.458	LRRC37A4P-002	KNOWN	basic	processed_transcript	LRRC37A4P	HGNC	pseudogene	OTTHUMT00000445300.1	G	NR_002940		43585779	-1	no_errors	ENST00000579913	ensembl	human	known	70_37	rna	SNP	0.014	A
LRRC59	55379	genome.wustl.edu	37	17	48474547	48474547	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:48474547G>A	ENST00000225972.7	-	1	341				RP1-117B12.4_ENST00000511627.1_RNA|LRRC59_ENST00000576448.1_Silent_p.G44G	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			GAAGGTGGGCGCCTGGGCCTC	0.597											OREG0024565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													45.0	45.0	45.0					17																	48474547		2203	4300	6503	SO:0001627	intron_variant	55379			AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.105+26C>T	17.37:g.48474547G>A		Somatic	954	WXS	Illumina HiSeq	Phase_IV	B2RE83|D3DTX8|Q9P189	Silent	SNP	NULL	p.G44	ENST00000225972.7	37	c.132	CCDS11566.1	17																																																																																			LRRC59	-	NULL		0.597	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC59	HGNC	protein_coding	OTTHUMT00000367117.2	G	NM_018509		48474547	-1	no_errors	ENST00000576448	ensembl	human	putative	70_37	silent	SNP	0.917	A
LRRC37A3	374819	genome.wustl.edu	37	17	62891142	62891142	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:62891142G>A	ENST00000584306.1	-	3	2764	c.2234C>T	c.(2233-2235)tCa>tTa	p.S745L	LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.S745L|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000577487.1_5'Flank	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	745						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AAGCTGAGTTGAGGTCTCCTC	0.517																																																	0													112.0	166.0	150.0					17																	62891142		1876	4297	6173	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.2234C>T	17.37:g.62891142G>A	ENSP00000464535:p.Ser745Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S745L	ENST00000584306.1	37	c.2234	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	4.879	0.163319	0.09287	.	.	ENSG00000176809	ENST00000319651	T	0.59083	0.29	1.46	0.354	0.16063	.	.	.	.	.	T	0.43700	0.1259	L	0.38175	1.15	0.09310	N	1	B	0.29341	0.242	B	0.38428	0.273	T	0.38650	-0.9651	9	0.10111	T	0.7	.	4.7012	0.12828	0.0:0.0:0.631:0.369	.	745	O60309	L37A3_HUMAN	L	745	ENSP00000325713:S745L	ENSP00000325713:S745L	S	-	2	0	LRRC37A3	60321604	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	0.135000	0.15952	0.149000	0.19098	0.162000	0.16502	TCA	LRRC37A3	-	NULL		0.517	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	G	NM_199340		62891142	-1	no_errors	ENST00000319651	ensembl	human	known	70_37	missense	SNP	0.001	A
LRRC69	100130742	genome.wustl.edu	37	8	92145429	92145429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:92145429C>T	ENST00000448384.2	+	4	475	c.475C>T	c.(475-477)Caa>Taa	p.Q159*	LRRC69_ENST00000343709.3_Intron	NM_001129890.1	NP_001123362.1	Q6ZNQ3	LRC69_HUMAN	leucine rich repeat containing 69	159										endometrium(1)	1						TGTTGAACTTCAACTTAACTA	0.323																																																	0													54.0	49.0	51.0					8																	92145429		692	1591	2283	SO:0001587	stop_gained	100130742			AK130865		8q21.3	2010-07-14			ENSG00000214954	ENSG00000214954			34303	protein-coding gene	gene with protein product							Standard	NM_001129890		Approved		uc010mal.1	Q6ZNQ3	OTTHUMG00000164023	ENST00000448384.2:c.475C>T	8.37:g.92145429C>T	ENSP00000400803:p.Gln159*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q159*	ENST00000448384.2	37	c.475		8	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478316	0.44044	.	.	ENSG00000214954	ENST00000448384	.	.	.	5.58	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	0.0584	13.2393	0.59987	0.0:0.9222:0.0:0.0778	.	.	.	.	X	159	.	ENSP00000400803:Q159X	Q	+	1	0	LRRC69	92214605	1.000000	0.71417	0.993000	0.49108	0.312000	0.27988	2.823000	0.48081	1.370000	0.46153	0.585000	0.79938	CAA	LRRC69	-	smart_Leu-rich_rpt_typical-subtyp		0.323	LRRC69-007	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	LRRC69	HGNC	protein_coding	OTTHUMT00000415207.1	C	NM_001129890		92145429	+1	no_errors	ENST00000448384	ensembl	human	novel	70_37	nonsense	SNP	1.000	T
LRRFIP1	9208	genome.wustl.edu	37	2	238659879	238659879	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:238659879G>C	ENST00000392000.4	+	7	565	c.448G>C	c.(448-450)Gaa>Caa	p.E150Q	LRRFIP1_ENST00000308482.9_Missense_Mutation_p.E278Q|LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	150					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TCAGGATGTAGAAGGCAAATA	0.388																																																	0													89.0	78.0	82.0					2																	238659879		1568	3582	5150	SO:0001583	missense	9208			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.448G>C	2.37:g.238659879G>C	ENSP00000375857:p.Glu150Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	pfam_Leu-rich_rep_flightless-int_pr	p.E150Q	ENST00000392000.4	37	c.448	CCDS46552.1	2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915120	0.92178	.	.	ENSG00000124831	ENST00000308482;ENST00000391999;ENST00000392000	T;T	0.56103	0.48;2.39	5.09	5.09	0.68999	.	0.174155	0.35525	U	0.003146	T	0.72399	0.3455	M	0.69823	2.125	0.49389	D	0.999786	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.75611	-0.3258	10	0.66056	D	0.02	-23.7629	17.5064	0.87747	0.0:0.0:1.0:0.0	.	150;278	Q32MZ4;E9PGZ2	LRRF1_HUMAN;.	Q	278;268;150	ENSP00000310109:E278Q;ENSP00000375857:E150Q	ENSP00000310109:E278Q	E	+	1	0	LRRFIP1	238324618	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.107000	0.94261	2.350000	0.79820	0.655000	0.94253	GAA	LRRFIP1	-	pfam_Leu-rich_rep_flightless-int_pr		0.388	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	LRRFIP1	HGNC	protein_coding	OTTHUMT00000317198.1	G	NM_004735		238659879	+1	no_errors	ENST00000392000	ensembl	human	known	70_37	missense	SNP	1.000	C
LRRFIP1	9208	genome.wustl.edu	37	2	238671302	238671302	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:238671302G>C	ENST00000392000.4	+	11	1063	c.946G>C	c.(946-948)Gaa>Caa	p.E316Q	LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000244815.5_Missense_Mutation_p.E292Q|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.E260Q	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	316					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GGGGAAAAGAGAAATCTTGCA	0.463																																																	0													70.0	64.0	66.0					2																	238671302		2203	4300	6503	SO:0001583	missense	9208			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.946G>C	2.37:g.238671302G>C	ENSP00000375857:p.Glu316Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	pfam_Leu-rich_rep_flightless-int_pr	p.E316Q	ENST00000392000.4	37	c.946	CCDS46552.1	2	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581670	0.46006	.	.	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.39592	1.07;1.07;1.07	5.4	4.53	0.55603	.	0.633406	0.16217	N	0.224208	T	0.39784	0.1091	N	0.11201	0.11	0.22213	N	0.999286	D;D;D	0.56746	0.971;0.977;0.971	P;P;P	0.59357	0.776;0.856;0.776	T	0.30238	-0.9985	10	0.27082	T	0.32	-5.2989	13.2441	0.60014	0.0767:0.0:0.9233:0.0	.	260;316;292	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	Q	260;292;316	ENSP00000289175:E260Q;ENSP00000244815:E292Q;ENSP00000375857:E316Q	ENSP00000244815:E292Q	E	+	1	0	LRRFIP1	238336041	0.995000	0.38212	0.247000	0.24249	0.109000	0.19521	3.132000	0.50523	1.287000	0.44583	-0.145000	0.13849	GAA	LRRFIP1	-	pfam_Leu-rich_rep_flightless-int_pr		0.463	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	LRRFIP1	HGNC	protein_coding	OTTHUMT00000317198.1	G	NM_004735		238671302	+1	no_errors	ENST00000392000	ensembl	human	known	70_37	missense	SNP	0.956	C
LRRK2	120892	genome.wustl.edu	37	12	40671955	40671955	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:40671955G>A	ENST00000298910.7	+	18	2191	c.2133G>A	c.(2131-2133)gtG>gtA	p.V711V	LRRK2_ENST00000343742.2_Silent_p.V711V	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	711					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAAAAAATGTGATGCTAGAGA	0.368																																																	0													143.0	141.0	142.0					12																	40671955		2203	4300	6503	SO:0001819	synonymous_variant	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2133G>A	12.37:g.40671955G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.V711	ENST00000298910.7	37	c.2133	CCDS31774.1	12																																																																																			LRRK2	-	superfamily_ARM-type_fold		0.368	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	G	XM_058513		40671955	+1	no_errors	ENST00000298910	ensembl	human	known	70_37	silent	SNP	0.009	A
LRRTM2	26045	genome.wustl.edu	37	5	138210089	138210089	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:138210089G>C	ENST00000274711.6	-	2	539	c.161C>G	c.(160-162)tCa>tGa	p.S54*	CTNNA1_ENST00000540387.1_5'Flank|CTNNA1_ENST00000355078.5_Intron|LRRTM2_ENST00000518785.1_Intron|LRRTM2_ENST00000523537.1_Intron|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000302763.7_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	54	LRRNT.				long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S54L(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTTGGCACTGAGTGGAAGCC	0.532																																																	1	Substitution - Missense(1)	breast(1)											51.0	50.0	50.0					5																	138210089		2004	4163	6167	SO:0001587	stop_gained	26045			AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.161C>G	5.37:g.138210089G>C	ENSP00000274711:p.Ser54*	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVL3|A8K4U9|B7ZLN8|Q7L770	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S54*	ENST00000274711.6	37	c.161	CCDS47272.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.371601	0.95923	.	.	ENSG00000146006	ENST00000274711	.	.	.	5.14	5.14	0.70334	.	0.080135	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.0574	0.64779	0.0:0.1509:0.8491:0.0	.	.	.	.	X	54	.	ENSP00000274711:S54X	S	-	2	0	LRRTM2	138237988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.342000	0.65970	2.675000	0.91044	0.655000	0.94253	TCA	LRRTM2	-	NULL		0.532	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM2	HGNC	protein_coding	OTTHUMT00000374043.2	G			138210089	-1	no_errors	ENST00000274711	ensembl	human	known	70_37	nonsense	SNP	1.000	C
LTBP1	4052	genome.wustl.edu	37	2	33534509	33534509	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:33534509G>A	ENST00000404816.2	+	23	3843	c.3490G>A	c.(3490-3492)Gaa>Aaa	p.E1164K	LTBP1_ENST00000272273.5_Missense_Mutation_p.E104K|LTBP1_ENST00000402934.1_Missense_Mutation_p.E785K|LTBP1_ENST00000418533.2_Missense_Mutation_p.E838K|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000354476.3_Missense_Mutation_p.E1165K|LTBP1_ENST00000407925.1_Missense_Mutation_p.E838K|LTBP1_ENST00000404525.1_Missense_Mutation_p.E785K|LTBP1_ENST00000390003.4_Missense_Mutation_p.E839K			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1164	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGATATCAATGAATGCTTGGA	0.338																																																	0													100.0	94.0	96.0					2																	33534509		2203	4300	6503	SO:0001583	missense	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3490G>A	2.37:g.33534509G>A	ENSP00000386043:p.Glu1164Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E1165K	ENST00000404816.2	37	c.3493	CCDS33177.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.056992|4.056992	0.76074|0.76074	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669|ENST00000415140	D;D;D;D;D;D;D;D;D|.	0.98849|.	-5.18;-5.18;-5.18;-5.18;-5.18;-5.18;-5.18;-5.18;-5.18|.	5.64|5.64	5.64|5.64	0.86602|0.86602	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	.|.	.|.	.|.	.|.	D|D	0.88876|0.88876	0.6556|0.6556	H|H	0.97587|0.97587	4.035|4.035	0.50813|0.50813	D|D	0.999894|0.999894	D;D;D;D;D;D;D|.	0.89917|.	0.995;1.0;0.998;1.0;0.999;0.999;1.0|.	D;D;D;D;D;D;D|.	0.97110|.	0.986;0.999;0.993;1.0;0.997;0.997;0.999|.	D|D	0.92453|0.92453	0.5971|0.5971	9|5	0.72032|.	D|.	0.01|.	.|.	18.4768|18.4768	0.90795|0.90795	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	104;1164;838;785;838;839;1165|.	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4|.	.;LTBP1_HUMAN;.;.;.;.;.|.	K|I	1164;1165;839;838;785;785;838;104;42|125	ENSP00000386043:E1164K;ENSP00000346467:E1165K;ENSP00000374653:E839K;ENSP00000393057:E838K;ENSP00000384373:E785K;ENSP00000385359:E785K;ENSP00000384091:E838K;ENSP00000272273:E104K;ENSP00000395211:E42K|.	ENSP00000272273:E104K|.	E|M	+|+	1|3	0|0	LTBP1|LTBP1	33388013|33388013	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.369000|0.369000	0.29798|0.29798	7.382000|7.382000	0.79729|0.79729	2.653000|2.653000	0.90120|0.90120	0.655000|0.655000	0.94253|0.94253	GAA|ATG	LTBP1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.338	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	G	NM_206943		33534509	+1	no_errors	ENST00000354476	ensembl	human	known	70_37	missense	SNP	0.992	A
LUC7L3	51747	genome.wustl.edu	37	17	48822088	48822088	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:48822088G>A	ENST00000505658.1	+	7	796	c.607G>A	c.(607-609)Gat>Aat	p.D203N	LUC7L3_ENST00000240304.1_Missense_Mutation_p.D203N|LUC7L3_ENST00000544170.1_Missense_Mutation_p.D127N|LUC7L3_ENST00000393227.2_Missense_Mutation_p.D203N			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	203					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AATAGTAGGAGATGCCCAGTC	0.343																																																	0													98.0	100.0	99.0					17																	48822088		2203	4300	6503	SO:0001583	missense	51747				CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.607G>A	17.37:g.48822088G>A	ENSP00000425092:p.Asp203Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	pfam_LUC7-rel	p.D203N	ENST00000505658.1	37	c.607	CCDS11573.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.165082	0.94727	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000542316;ENST00000544170	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.59	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.64560	0.2609	M	0.92970	3.365	0.80722	D	1	D;B;B	0.89917	1.0;0.049;0.129	D;B;B	0.97110	1.0;0.019;0.032	T	0.74951	-0.3489	10	0.87932	D	0	-16.093	14.583	0.68305	0.0701:0.0:0.9299:0.0	.	127;203;203	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	N	203;203;203;203;127	ENSP00000425092:D203N;ENSP00000376919:D203N;ENSP00000240304:D203N;ENSP00000444253:D127N	ENSP00000240304:D203N	D	+	1	0	LUC7L3	46177087	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.765000	0.98953	1.380000	0.46344	0.563000	0.77884	GAT	LUC7L3	-	pfam_LUC7-rel		0.343	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L3	HGNC	protein_coding	OTTHUMT00000368205.2	G	NM_016424		48822088	+1	no_errors	ENST00000240304	ensembl	human	known	70_37	missense	SNP	1.000	A
LY75	4065	genome.wustl.edu	37	2	160755557	160755557	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:160755557G>A	ENST00000263636.4	-	2	135	c.108C>T	c.(106-108)ttC>ttT	p.F36F	LY75_ENST00000553424.1_Silent_p.F36F|LY75-CD302_ENST00000505052.1_Silent_p.F36F|LY75-CD302_ENST00000504764.1_Silent_p.F36F|LY75_ENST00000554112.1_Silent_p.F36F	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	36	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GGACGATGGTGAAGGGGTCAT	0.498																																																	0													156.0	150.0	152.0					2																	160755557		2203	4300	6503	SO:0001819	synonymous_variant	4065			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.108C>T	2.37:g.160755557G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.F36	ENST00000263636.4	37	c.108	CCDS2211.1	2																																																																																			LY75	-	superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.498	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	G			160755557	-1	no_errors	ENST00000554112	ensembl	human	known	70_37	silent	SNP	1.000	A
LZTR1	8216	genome.wustl.edu	37	22	21336750	21336750	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:21336750C>G	ENST00000215739.8	+	1	449	c.90C>G	c.(88-90)ttC>ttG	p.F30L	LZTR1_ENST00000389355.3_Missense_Mutation_p.F30L|XXbac-B135H6.18_ENST00000610278.1_lincRNA|LZTR1_ENST00000479606.1_Intron	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	30					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCGTGGACTTCGACCATAGCT	0.701																																																	0													25.0	22.0	23.0					22																	21336750		2201	4300	6501	SO:0001583	missense	8216			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.90C>G	22.37:g.21336750C>G	ENSP00000215739:p.Phe30Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.F30L	ENST00000215739.8	37	c.90	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683813	0.88639	.	.	ENSG00000099949	ENST00000215739;ENST00000389355	T;T	0.55588	0.83;0.51	5.55	3.21	0.36854	.	0.050603	0.85682	D	0.000000	T	0.51466	0.1676	L	0.29908	0.895	0.54753	D	0.999987	D;D	0.54964	0.969;0.969	D;D	0.64877	0.93;0.93	T	0.42666	-0.9438	10	0.15066	T	0.55	-8.3059	7.9415	0.29961	0.0:0.1986:0.0:0.8014	.	30;30	B7Z3T9;Q8N653	.;LZTR1_HUMAN	L	30	ENSP00000215739:F30L;ENSP00000374006:F30L	ENSP00000215739:F30L	F	+	3	2	LZTR1	19666750	0.997000	0.39634	1.000000	0.80357	0.957000	0.61999	0.300000	0.19156	1.027000	0.39758	-0.345000	0.07892	TTC	LZTR1	-	NULL		0.701	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	C	NM_006767		21336750	+1	no_errors	ENST00000215739	ensembl	human	known	70_37	missense	SNP	1.000	G
MACF1	23499	genome.wustl.edu	37	1	39776539	39776539	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:39776539C>T	ENST00000372915.3	+	25	3239	c.3152C>T	c.(3151-3153)tCa>tTa	p.S1051L	MACF1_ENST00000317713.7_Missense_Mutation_p.S1051L|MACF1_ENST00000545844.1_Missense_Mutation_p.S1051L|MACF1_ENST00000361689.2_Missense_Mutation_p.S1051L|MACF1_ENST00000567887.1_Missense_Mutation_p.S1083L|MACF1_ENST00000564288.1_Missense_Mutation_p.S1046L|MACF1_ENST00000539005.1_Missense_Mutation_p.S1051L|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1051					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGTACATTTCAGAGTTGAAG	0.478																																																	0													89.0	80.0	83.0					1																	39776539		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.3152C>T	1.37:g.39776539C>T	ENSP00000362006:p.Ser1051Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.S1051L	ENST00000372915.3	37	c.3152		1	.	.	.	.	.	.	.	.	.	.	C	36	5.621808	0.96660	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262	T;T;T;T;T;D;D	0.88354	-0.16;-0.14;-0.16;-0.2;-0.01;-2.07;-2.37	5.18	5.18	0.71444	.	.	.	.	.	D	0.92639	0.7661	M	0.75777	2.31	0.80722	D	1	B;D;B	0.57571	0.021;0.98;0.383	B;P;B	0.53912	0.037;0.737;0.237	D	0.93508	0.6850	9	0.72032	D	0.01	.	18.6992	0.91614	0.0:1.0:0.0:0.0	.	1051;1051;1016	F8W8Q1;Q9UPN3-2;Q9UPN3-3	.;.;.	L	1051;1051;1051;1051;1051;1009;1200	ENSP00000439537:S1051L;ENSP00000362006:S1051L;ENSP00000354573:S1051L;ENSP00000313438:S1051L;ENSP00000444364:S1051L;ENSP00000435070:S1009L;ENSP00000437059:S1200L	ENSP00000313438:S1051L	S	+	2	0	MACF1	39549126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.067000	0.71193	2.414000	0.81942	0.655000	0.94253	TCA	MACF1	-	NULL		0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	C	NM_033044		39776539	+1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	1.000	T
MACF1	23499	genome.wustl.edu	37	1	39952335	39952335	+	3'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:39952335G>A	ENST00000372915.3	+	0	23123				MACF1_ENST00000317713.7_3'UTR|MACF1_ENST00000545844.1_3'UTR|MACF1_ENST00000289893.4_3'UTR|MACF1_ENST00000361689.2_3'UTR|MACF1_ENST00000567887.1_3'UTR|MACF1_ENST00000564288.1_3'UTR|MACF1_ENST00000539005.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCACAAACTGAGGAATGAAT	0.413																																																	0																																										SO:0001624	3_prime_UTR_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.*869G>A	1.37:g.39952335G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	RNA	SNP	-	NULL	ENST00000372915.3	37	NULL		1																																																																																			MACF1	-	-		0.413	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39952335	+1	no_errors	ENST00000497807	ensembl	human	known	70_37	rna	SNP	0.934	A
MADD	8567	genome.wustl.edu	37	11	47297526	47297526	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:47297526G>C	ENST00000311027.5	+	4	901	c.736G>C	c.(736-738)Gag>Cag	p.E246Q	MADD_ENST00000349238.3_Missense_Mutation_p.E246Q|MADD_ENST00000342922.4_Missense_Mutation_p.E246Q|MADD_ENST00000407859.3_Missense_Mutation_p.E246Q|MADD_ENST00000395344.3_Missense_Mutation_p.E246Q|MADD_ENST00000402799.1_Missense_Mutation_p.E246Q|MADD_ENST00000406482.1_Missense_Mutation_p.E246Q|MADD_ENST00000402192.2_Missense_Mutation_p.E246Q|MADD_ENST00000395336.3_Missense_Mutation_p.E246Q	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TGACCTTCGAGAGATTGAGGC	0.562																																																	0													164.0	144.0	151.0					11																	47297526		2201	4298	6499	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.736G>C	11.37:g.47297526G>C	ENSP00000310933:p.Glu246Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E246Q	ENST00000311027.5	37	c.736	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.079667	0.94050	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000428807;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73	5.64	5.64	0.86602	DENN (3);	0.052970	0.85682	D	0.000000	T	0.32010	0.0815	L	0.40543	1.245	0.80722	D	1	D;P;D;P;P;P;P;D;P;D	0.89917	1.0;0.608;1.0;0.503;0.503;0.725;0.503;0.999;0.743;0.999	D;P;D;P;P;P;P;D;P;D	0.87578	0.998;0.53;0.998;0.524;0.524;0.511;0.499;0.997;0.846;0.982	T	0.00829	-1.1549	10	0.54805	T	0.06	-25.5021	19.7013	0.96054	0.0:0.0:1.0:0.0	.	246;246;246;246;246;246;246;246;246;246	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	Q	246;246;24;246;246;246;246;246;246;246;246	ENSP00000343902:E246Q;ENSP00000398167:E24Q;ENSP00000385585:E246Q;ENSP00000384435:E246Q;ENSP00000304505:E246Q;ENSP00000310933:E246Q;ENSP00000384204:E246Q;ENSP00000378753:E246Q;ENSP00000378745:E246Q;ENSP00000384287:E246Q	ENSP00000310933:E246Q	E	+	1	0	MADD	47254102	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.476000	0.97823	2.657000	0.90304	0.655000	0.94253	GAG	MADD	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.562	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	G			47297526	+1	no_errors	ENST00000311027	ensembl	human	known	70_37	missense	SNP	1.000	C
MAGEC1	9947	genome.wustl.edu	37	X	140994802	140994802	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:140994802G>C	ENST00000285879.4	+	4	1898	c.1612G>C	c.(1612-1614)Gag>Cag	p.E538Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	538										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTCTTCCTGAGTGGGAGGA	0.542										HNSCC(15;0.026)																																							0													149.0	157.0	154.0					X																	140994802		2203	4300	6503	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1612G>C	X.37:g.140994802G>C	ENSP00000285879:p.Glu538Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E538Q	ENST00000285879.4	37	c.1612	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	9.588	1.125392	0.20959	.	.	ENSG00000155495	ENST00000285879	T	0.01887	4.58	0.899	0.899	0.19271	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	0.80722	D	1	B	0.20459	0.045	B	0.15484	0.013	T	0.54629	-0.8265	9	0.87932	D	0	.	5.4496	0.16556	0.0:0.0:1.0:0.0	.	538	O60732	MAGC1_HUMAN	Q	538	ENSP00000285879:E538Q	ENSP00000285879:E538Q	E	+	1	0	MAGEC1	140822468	0.072000	0.21174	0.023000	0.16930	0.023000	0.10783	0.349000	0.20055	0.149000	0.19098	0.151000	0.16131	GAG	MAGEC1	-	NULL		0.542	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	G	NM_005462		140994802	+1	no_errors	ENST00000285879	ensembl	human	known	70_37	missense	SNP	0.955	C
MAGI1	9223	genome.wustl.edu	37	3	65860659	65860659	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:65860659G>A	ENST00000497477.2	-	1	313				MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000470990.1_Intron|MAGI1-IT1_ENST00000460754.1_RNA|MAGI1_ENST00000330909.8_Intron|MAGI1_ENST00000483466.1_Intron			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1						cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ctaggaggctgaggcaggagg	0.413																																																	0																																										SO:0001627	intron_variant	151877			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.313+163011C>T	3.37:g.65860659G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	RNA	SNP	-	NULL	ENST00000497477.2	37	NULL		3																																																																																			MAGI1-IT1	-	-		0.413	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1-IT1	HGNC	protein_coding	OTTHUMT00000349132.2	G	NM_004742		65860659	-1	no_errors	ENST00000460754	ensembl	human	known	70_37	rna	SNP	0.000	A
MAGEF1	64110	genome.wustl.edu	37	3	184429175	184429175	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:184429175C>T	ENST00000317897.3	-	1	661	c.435G>A	c.(433-435)ctG>ctA	p.L145L		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	145	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			GTTTGTTGATCAGGATGTAAG	0.502																																																	0													76.0	82.0	80.0					3																	184429175		2203	4300	6503	SO:0001819	synonymous_variant	64110			AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.435G>A	3.37:g.184429175C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H215	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.L145	ENST00000317897.3	37	c.435	CCDS3269.1	3																																																																																			MAGEF1	-	pfam_MAGE,pfscan_MAGE		0.502	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEF1	HGNC	protein_coding	OTTHUMT00000345417.1	C	NM_022149		184429175	-1	no_errors	ENST00000317897	ensembl	human	known	70_37	silent	SNP	0.063	T
MAGI3	260425	genome.wustl.edu	37	1	114165542	114165542	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:114165542G>C	ENST00000307546.9	+	9	1361	c.1286G>C	c.(1285-1287)aGa>aCa	p.R429T	MAGI3_ENST00000369617.4_Missense_Mutation_p.R454T|MAGI3_ENST00000369611.4_Missense_Mutation_p.R429T|MAGI3_ENST00000369615.1_Missense_Mutation_p.R429T	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	454					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTGGAGATAGACCTGATGAG	0.398																																																	0													93.0	88.0	90.0					1																	114165542		2203	4300	6503	SO:0001583	missense	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1286G>C	1.37:g.114165542G>C	ENSP00000304604:p.Arg429Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.R429T	ENST00000307546.9	37	c.1286	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954024	0.92660	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	N	0.20574	0.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.987;0.979	T	0.53143	-0.8480	10	0.87932	D	0	-25.2468	19.7821	0.96420	0.0:0.0:1.0:0.0	.	429;429;454	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	T	454;429;429;429	ENSP00000358630:R454T;ENSP00000304604:R429T;ENSP00000358628:R429T;ENSP00000358624:R429T	ENSP00000304604:R429T	R	+	2	0	MAGI3	113967065	1.000000	0.71417	0.933000	0.37362	0.834000	0.47266	7.609000	0.82925	2.682000	0.91365	0.655000	0.94253	AGA	MAGI3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.398	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	G	NM_152900		114165542	+1	no_errors	ENST00000369611	ensembl	human	known	70_37	missense	SNP	0.997	C
MAK16	84549	genome.wustl.edu	37	8	33346281	33346281	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:33346281G>C	ENST00000360128.6	+	4	662	c.205G>C	c.(205-207)Gaa>Caa	p.E69Q	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	69						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						GAAGGTTATAGAACGAGCGGC	0.423																																																	0													88.0	86.0	87.0					8																	33346281		2203	4300	6503	SO:0001583	missense	84549			AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"""RNA binding motif (RRM) containing"""	13703	protein-coding gene	gene with protein product			"""RNA binding motif protein 13"""	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.205G>C	8.37:g.33346281G>C	ENSP00000353246:p.Glu69Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB44|Q5U5T1|Q86UC4|Q96SY6	Missense_Mutation	SNP	pfam_Mak16,pirsf_Mak16	p.E69Q	ENST00000360128.6	37	c.205	CCDS6089.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.470289	0.96274	.	.	ENSG00000198042	ENST00000360128	T	0.45276	0.9	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.74604	0.3738	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80286	-0.1446	10	0.87932	D	0	-25.1813	19.6488	0.95793	0.0:0.0:1.0:0.0	.	69	Q9BXY0	MAK16_HUMAN	Q	69	ENSP00000353246:E69Q	ENSP00000353246:E69Q	E	+	1	0	MAK16	33465823	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.025000	0.93694	2.758000	0.94735	0.561000	0.74099	GAA	MAK16	-	pirsf_Mak16		0.423	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAK16	HGNC	protein_coding	OTTHUMT00000376559.3	G	NM_032509		33346281	+1	no_errors	ENST00000360128	ensembl	human	known	70_37	missense	SNP	1.000	C
MAMDC2	256691	genome.wustl.edu	37	9	72741133	72741133	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:72741133C>G	ENST00000377182.4	+	6	1319	c.702C>G	c.(700-702)ctC>ctG	p.L234L	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	234	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGGCACAGCTCATCTCCCCGT	0.517																																																	0													97.0	80.0	85.0					9																	72741133		2203	4300	6503	SO:0001819	synonymous_variant	256691			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.702C>G	9.37:g.72741133C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VW47|Q8WX43|Q96BM4	Silent	SNP	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	p.L234	ENST00000377182.4	37	c.702	CCDS6631.1	9																																																																																			MAMDC2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.517	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	HGNC	protein_coding	OTTHUMT00000052600.1	C	NM_153267		72741133	+1	no_errors	ENST00000377182	ensembl	human	known	70_37	silent	SNP	0.995	G
MAML2	84441	genome.wustl.edu	37	11	95724713	95724713	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:95724713G>A	ENST00000524717.1	-	3	3598	c.2314C>T	c.(2314-2316)Ctt>Ttt	p.L772F		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	772					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TGCTGGAGAAGAAGTTGCTGT	0.433			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													147.0	144.0	145.0					11																	95724713		1942	4145	6087	SO:0001583	missense	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2314C>T	11.37:g.95724713G>A	ENSP00000434552:p.Leu772Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.L772F	ENST00000524717.1	37	c.2314	CCDS44714.1	11	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078758	0.55753	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.42513	0.97;0.97	5.46	5.46	0.80206	.	0.000000	0.53938	D	0.000052	T	0.62913	0.2467	M	0.62723	1.935	0.46901	D	0.999244	D	0.71674	0.998	D	0.83275	0.996	T	0.58973	-0.7541	10	0.36615	T	0.2	-13.7804	18.2931	0.90137	0.0:0.0:1.0:0.0	.	772	Q8IZL2	MAML2_HUMAN	F	772	ENSP00000434552:L772F;ENSP00000412394:L772F	ENSP00000412394:L772F	L	-	1	0	MAML2	95364361	1.000000	0.71417	0.997000	0.53966	0.084000	0.17831	6.321000	0.72881	2.577000	0.86979	0.557000	0.71058	CTT	MAML2	-	NULL		0.433	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	G			95724713	-1	no_errors	ENST00000440572	ensembl	human	known	70_37	missense	SNP	1.000	A
MAML3	55534	genome.wustl.edu	37	4	140811981	140811981	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:140811981G>C	ENST00000509479.2	-	2	1465	c.609C>G	c.(607-609)atC>atG	p.I203M	MAML3_ENST00000398940.1_5'Flank|MAML3_ENST00000327122.5_Missense_Mutation_p.I47M	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GCAAATTGTTGATGGCTTCCA	0.478																																																	0													86.0	83.0	84.0					4																	140811981		2043	4199	6242	SO:0001583	missense	55534			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.609C>G	4.37:g.140811981G>C	ENSP00000421180:p.Ile203Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.I203M	ENST00000509479.2	37	c.609	CCDS54805.1	4	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063895	0.36373	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.24151	1.87	5.3	3.23	0.37069	.	0.075148	0.53938	D	0.000048	T	0.23451	0.0567	L	0.36672	1.1	0.80722	D	1	P	0.45902	0.868	P	0.45506	0.483	T	0.02031	-1.1226	10	0.49607	T	0.09	.	10.2289	0.43243	0.2381:0.0:0.7619:0.0	.	203	Q96JK9	MAML3_HUMAN	M	203;47	ENSP00000421180:I203M	ENSP00000313316:I47M	I	-	3	3	MAML3	141031431	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	0.952000	0.29149	1.227000	0.43598	0.585000	0.79938	ATC	MAML3	-	NULL		0.478	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	G			140811981	-1	no_errors	ENST00000509479	ensembl	human	known	70_37	missense	SNP	0.997	C
MAN1C1	57134	genome.wustl.edu	37	1	26098186	26098186	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:26098186G>C	ENST00000374332.4	+	8	1510	c.1180G>C	c.(1180-1182)Gaa>Caa	p.E394Q	MAN1C1_ENST00000263979.3_Missense_Mutation_p.E214Q|MAN1C1_ENST00000374329.1_Missense_Mutation_p.E165Q	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	394					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CAGTTTTTATGAATATTTGAT	0.478																																																	0													118.0	110.0	112.0					1																	26098186		2203	4300	6503	SO:0001583	missense	57134			AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1180G>C	1.37:g.26098186G>C	ENSP00000363452:p.Glu394Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.E394Q	ENST00000374332.4	37	c.1180	CCDS265.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.079656	0.94050	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	D;D;D	0.82893	-1.66;-1.66;-1.66	5.26	5.26	0.73747	.	0.047747	0.85682	D	0.000000	D	0.92922	0.7748	H	0.97131	3.945	0.80722	D	1	D	0.62365	0.991	P	0.54372	0.75	D	0.95150	0.8272	10	0.87932	D	0	.	19.2277	0.93824	0.0:0.0:1.0:0.0	.	394	Q9NR34	MA1C1_HUMAN	Q	394;214;214;165	ENSP00000363452:E394Q;ENSP00000263979:E214Q;ENSP00000363449:E165Q	ENSP00000263979:E214Q	E	+	1	0	MAN1C1	25970773	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.742000	0.98846	2.628000	0.89032	0.591000	0.81541	GAA	MAN1C1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47		0.478	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1C1	HGNC	protein_coding	OTTHUMT00000012828.3	G	NM_020379		26098186	+1	no_errors	ENST00000374332	ensembl	human	known	70_37	missense	SNP	1.000	C
MAP1B	4131	genome.wustl.edu	37	5	71496106	71496106	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:71496106C>G	ENST00000296755.7	+	5	7222	c.6924C>G	c.(6922-6924)gtC>gtG	p.V2308V		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2308	Mediates interaction with TMEM185A.				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTCCTGAGGTCAAAGCTGCAC	0.522																																					Melanoma(17;367 822 11631 31730 47712)												0													113.0	118.0	116.0					5																	71496106		2203	4300	6503	SO:0001819	synonymous_variant	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6924C>G	5.37:g.71496106C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2BDK5	Silent	SNP	pfam_MAP1B_neuraxin	p.V2308	ENST00000296755.7	37	c.6924	CCDS4012.1	5																																																																																			MAP1B	-	NULL		0.522	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	C	NM_005909		71496106	+1	no_errors	ENST00000296755	ensembl	human	known	70_37	silent	SNP	1.000	G
MAP1LC3C	440738	genome.wustl.edu	37	1	242162308	242162308	+	Start_Codon_SNP	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:242162308C>T	ENST00000357246.3	-	1	67	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	1					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTGGAGGCGGCATTGCACTCA	0.473											OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													73.0	75.0	74.0					1																	242162308		2202	4300	6502	SO:0001582	initiator_codon_variant	440738			AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.3G>A	1.37:g.242162308C>T	ENSP00000349785:p.Met1Ile	Somatic	2432	WXS	Illumina HiSeq	Phase_IV	A0PJY8|A2RUP0	Missense_Mutation	SNP	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12	p.M1I	ENST00000357246.3	37	c.3	CCDS31074.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047855	0.75846	.	.	ENSG00000197769	ENST00000357246	T	0.43294	0.95	3.95	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	.	.	.	0.80722	D	1	B	0.34290	0.447	B	0.31245	0.126	T	0.46219	-0.9207	9	0.87932	D	0	.	14.9151	0.70789	0.0:1.0:0.0:0.0	.	1	Q9BXW4	MLP3C_HUMAN	I	1	ENSP00000349785:M1I	ENSP00000349785:M1I	M	-	3	0	MAP1LC3C	240228931	1.000000	0.71417	0.837000	0.33122	0.839000	0.47603	2.422000	0.44696	2.034000	0.60081	0.637000	0.83480	ATG	MAP1LC3C	-	NULL		0.473	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1LC3C	HGNC	protein_coding	OTTHUMT00000096185.1	C	NM_001004343	Missense_Mutation	242162308	-1	no_errors	ENST00000357246	ensembl	human	known	70_37	missense	SNP	1.000	T
MAP2K7	5609	genome.wustl.edu	37	19	7975365	7975365	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:7975365G>A	ENST00000397979.3	+	5	529	c.475G>A	c.(475-477)Gag>Aag	p.E159K	MAP2K7_ENST00000397983.3_Missense_Mutation_p.E175K|MAP2K7_ENST00000397981.3_Missense_Mutation_p.E159K|MAP2K7_ENST00000545011.1_Missense_Mutation_p.E201K|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	159	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						GAACAAGGAGGAGAACAAGCG	0.632																																																	0													44.0	46.0	46.0					19																	7975365		2152	4253	6405	SO:0001583	missense	5609			AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.475G>A	19.37:g.7975365G>A	ENSP00000381066:p.Glu159Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E201K	ENST00000397979.3	37	c.601	CCDS42491.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.621826	0.96660	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65523	0.2699	N	0.13352	0.335	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77004	0.934;0.989	T	0.72157	-0.4375	10	0.87932	D	0	-1.1506	15.9151	0.79508	0.0:0.0:1.0:0.0	.	159;159	O14733-4;O14733	.;MP2K7_HUMAN	K	159;175;201;175;159	ENSP00000381068:E159K;ENSP00000381070:E175K;ENSP00000443946:E201K;ENSP00000381066:E159K	ENSP00000381066:E159K	E	+	1	0	MAP2K7	7881365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.086000	0.71352	2.438000	0.82558	0.555000	0.69702	GAG	MAP2K7	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.632	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	MAP2K7	HGNC	protein_coding	OTTHUMT00000267980.1	G			7975365	+1	no_errors	ENST00000545011	ensembl	human	known	70_37	missense	SNP	1.000	A
MAP3K10	4294	genome.wustl.edu	37	19	40698542	40698542	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:40698542C>G	ENST00000253055.3	+	1	892	c.604C>G	c.(604-606)Cag>Gag	p.Q202E	MAP3K10_ENST00000593906.1_Intron	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	202	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CTGGGCTGTGCAGGTGGCCCG	0.612																																																	0													48.0	42.0	44.0					19																	40698542		2203	4300	6503	SO:0001583	missense	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.604C>G	19.37:g.40698542C>G	ENSP00000253055:p.Gln202Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q12761|Q14871	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.Q202E	ENST00000253055.3	37	c.604	CCDS12549.1	19	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544698	0.86022	.	.	ENSG00000130758	ENST00000253055	D	0.94576	-3.46	4.93	4.93	0.64822	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95101	0.8413	L	0.35249	1.045	0.58432	D	0.999998	D	0.76494	0.999	D	0.80764	0.994	D	0.94789	0.7960	10	0.45353	T	0.12	.	15.6819	0.77376	0.0:1.0:0.0:0.0	.	202	Q02779	M3K10_HUMAN	E	202	ENSP00000253055:Q202E	ENSP00000253055:Q202E	Q	+	1	0	MAP3K10	45390382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.643000	0.83403	2.565000	0.86533	0.561000	0.74099	CAG	MAP3K10	-	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.612	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	HGNC	protein_coding	OTTHUMT00000462552.1	C	NM_002446		40698542	+1	no_errors	ENST00000253055	ensembl	human	known	70_37	missense	SNP	1.000	G
MAP3K19	80122	genome.wustl.edu	37	2	135738750	135738750	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:135738750G>C	ENST00000375845.3	-	9	3591	c.3561C>G	c.(3559-3561)atC>atG	p.I1187M	MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_Missense_Mutation_p.I48M|MAP3K19_ENST00000375844.3_Missense_Mutation_p.I369M|MAP3K19_ENST00000392917.3_Missense_Mutation_p.I319M|MAP3K19_ENST00000358371.4_Missense_Mutation_p.I1074M|MAP3K19_ENST00000392918.3_Missense_Mutation_p.I321M	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1187	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TATTTCCTTTGATATCGCGAT	0.433																																																	0													140.0	136.0	138.0					2																	135738750		2203	4300	6503	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3561C>G	2.37:g.135738750G>C	ENSP00000365005:p.Ile1187Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I1187M	ENST00000375845.3	37	c.3561	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384191	0.42308	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.88	3.05	0.35203	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47455	D	0.000237	T	0.61337	0.2339	M	0.88979	2.995	0.32145	N	0.584948	D;D;D;D;D	0.89917	0.997;1.0;0.999;0.999;1.0	D;D;D;D;D	0.87578	0.959;0.996;0.973;0.982;0.998	T	0.69239	-0.5197	10	0.87932	D	0	.	8.1263	0.31001	0.1279:0.0:0.6402:0.2318	.	319;1074;321;369;1187	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	M	1187;1074;369;321;319;577;48	ENSP00000365005:I1187M;ENSP00000351140:I1074M;ENSP00000365004:I369M;ENSP00000376650:I321M;ENSP00000376649:I319M;ENSP00000392827:I577M;ENSP00000321160:I48M	ENSP00000321160:I48M	I	-	3	3	YSK4	135455220	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.145000	0.31577	0.411000	0.25702	-0.808000	0.03180	ATC	MAP3K19	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.433	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	G	NM_025052		135738750	-1	no_errors	ENST00000375845	ensembl	human	known	70_37	missense	SNP	0.996	C
MAP3K5	4217	genome.wustl.edu	37	6	137112890	137112890	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:137112890C>G	ENST00000359015.4	-	1	766	c.406G>C	c.(406-408)Gac>Cac	p.D136H		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	136					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCTCCAAAGTCGAGTTTCCCA	0.627																																																	0													87.0	88.0	87.0					6																	137112890		2201	4298	6499	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.406G>C	6.37:g.137112890C>G	ENSP00000351908:p.Asp136His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D136H	ENST00000359015.4	37	c.406	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537989	0.85917	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.73681	-0.77	4.94	4.94	0.65067	.	0.059401	0.64402	D	0.000003	D	0.84665	0.5522	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86752	0.1961	10	0.87932	D	0	.	18.1466	0.89659	0.0:1.0:0.0:0.0	.	136	Q99683	M3K5_HUMAN	H	136;216	ENSP00000351908:D136H	ENSP00000351908:D136H	D	-	1	0	MAP3K5	137154583	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.959000	0.76031	2.424000	0.82194	0.655000	0.94253	GAC	MAP3K5	-	NULL		0.627	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	C			137112890	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	missense	SNP	1.000	G
MAP3K4	4216	genome.wustl.edu	37	6	161532882	161532882	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:161532882C>G	ENST00000392142.4	+	24	4559	c.4411C>G	c.(4411-4413)Ctt>Gtt	p.L1471V	MAP3K4_ENST00000366919.2_Missense_Mutation_p.L1421V|MAP3K4_ENST00000348824.7_Missense_Mutation_p.L1417V|MAP3K4_ENST00000366920.2_Missense_Mutation_p.L1467V	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1471	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CAATATCTTCCTTACCTCATC	0.433																																																	0													225.0	204.0	211.0					6																	161532882		2203	4300	6503	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4411C>G	6.37:g.161532882C>G	ENSP00000375986:p.Leu1471Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L1471V	ENST00000392142.4	37	c.4411	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083696	0.76642	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.11	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000004	T	0.66954	0.2842	N	0.25060	0.705	0.80722	D	1	D;D;D;D	0.89917	0.999;0.997;0.999;1.0	D;D;D;D	0.91635	0.993;0.974;0.997;0.999	T	0.69386	-0.5159	10	0.45353	T	0.12	-26.0045	18.9174	0.92512	0.0:1.0:0.0:0.0	.	1467;407;1421;1471	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	V	1421;1471;1421;1467;1417	ENSP00000355886:L1421V;ENSP00000375986:L1471V;ENSP00000355887:L1467V;ENSP00000297332:L1417V	ENSP00000297332:L1417V	L	+	1	0	MAP3K4	161452872	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	4.858000	0.62947	2.529000	0.85273	0.557000	0.71058	CTT	MAP3K4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.433	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	C			161532882	+1	no_errors	ENST00000392142	ensembl	human	known	70_37	missense	SNP	1.000	G
MAP4	4134	genome.wustl.edu	37	3	47950973	47950973	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:47950973G>A	ENST00000360240.6	-	8	2518				MAP4_ENST00000395734.3_Intron|MAP4_ENST00000264724.11_Silent_p.S253S|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000426837.2_Silent_p.S1663S	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4						cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CTGAACCTTTGGAATTTCTAT	0.353																																																	0													149.0	150.0	149.0					3																	47950973		1831	4077	5908	SO:0001627	intron_variant	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1999+5333C>T	3.37:g.47950973G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	pfam_Tau/MAP_tubulin-bd_rpt	p.S253	ENST00000360240.6	37	c.759	CCDS33750.1	3																																																																																			MAP4	-	NULL		0.353	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1	G	NM_002375		47950973	-1	no_errors	ENST00000264724	ensembl	human	known	70_37	silent	SNP	0.000	A
MAP4K4	9448	genome.wustl.edu	37	2	102503688	102503688	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:102503688C>G	ENST00000347699.4	+	27	3325	c.3325C>G	c.(3325-3327)Cta>Gta	p.L1109V	MAP4K4_ENST00000413150.2_Missense_Mutation_p.L1024V|MAP4K4_ENST00000456652.1_Missense_Mutation_p.L908V|MAP4K4_ENST00000324219.4_Missense_Mutation_p.L1190V|MAP4K4_ENST00000350878.4_Missense_Mutation_p.L1149V|MAP4K4_ENST00000302217.5_Missense_Mutation_p.L912V|MAP4K4_ENST00000350198.4_Missense_Mutation_p.L1028V|MAP4K4_ENST00000425019.1_Missense_Mutation_p.L1142V	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1109	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGACATTTATCTACCAACACA	0.413																																																	0													126.0	120.0	122.0					2																	102503688		1931	4145	6076	SO:0001583	missense	9448			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.3325C>G	2.37:g.102503688C>G	ENSP00000314363:p.Leu1109Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O75172|Q9NST7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L1190V	ENST00000347699.4	37	c.3568	CCDS56130.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.36|16.36	3.101790|3.101790	0.56183|0.56183	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T;T;T|.	0.04758|.	3.56;3.56;3.56;3.56;3.56;3.56;3.56;3.56;3.56|.	5.08|5.08	5.08|5.08	0.68730|0.68730	Citron-like (3);|.	0.000000|.	0.64402|.	D|.	0.000010|.	T|T	0.59609|0.59609	0.2206|0.2206	L|L	0.47016|0.47016	1.485|1.485	0.80722|0.80722	D|D	1|1	P;P;P;D;P;B;B;P;P;B|.	0.89917|.	0.877;0.779;0.587;1.0;0.738;0.394;0.329;0.738;0.532;0.324|.	B;B;P;D;B;B;B;B;B;B|.	0.85130|.	0.429;0.211;0.45;0.997;0.134;0.444;0.127;0.134;0.413;0.171|.	T|T	0.56974|0.56974	-0.7890|-0.7890	10|5	0.37606|.	T|.	0.19|.	.|.	11.9009|11.9009	0.52682|0.52682	0.0:0.9197:0.0:0.0803|0.0:0.9197:0.0:0.0803	.|.	1149;1105;908;912;1027;1109;1142;1028;1081;1190|.	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	V|C	1142;1190;1028;912;1024;908;1109;1040;1149|925	ENSP00000392830:L1142V;ENSP00000313644:L1190V;ENSP00000281111:L1028V;ENSP00000303600:L912V;ENSP00000389752:L1024V;ENSP00000387370:L908V;ENSP00000314363:L1109V;ENSP00000409720:L1040V;ENSP00000343658:L1149V|.	ENSP00000303600:L912V|.	L|S	+|+	1|2	2|0	MAP4K4|MAP4K4	101870120|101870120	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.952000|3.952000	0.56691|0.56691	2.352000|2.352000	0.79861|0.79861	0.557000|0.557000	0.71058|0.71058	CTA|TCT	MAP4K4	-	pfam_Citron,smart_Citron		0.413	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	C	NM_004834		102503688	+1	no_errors	ENST00000324219	ensembl	human	known	70_37	missense	SNP	1.000	G
MAP4K5	11183	genome.wustl.edu	37	14	50895433	50895433	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:50895433G>C	ENST00000013125.4	-	29	2591	c.2273C>G	c.(2272-2274)tCa>tGa	p.S758*		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	758	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TTTCTTACTTGATTTTAATTT	0.279																																																	0													58.0	54.0	55.0					14																	50895433		1762	4033	5795	SO:0001587	stop_gained	11183			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.2273C>G	14.37:g.50895433G>C	ENSP00000013125:p.Ser758*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IYF6	Nonsense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.S758*	ENST00000013125.4	37	c.2273		14	.	.	.	.	.	.	.	.	.	.	G	43	9.939980	0.99300	.	.	ENSG00000012983	ENST00000013125	.	.	.	5.89	5.89	0.94794	.	0.057196	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	.	.	.	X	758	.	ENSP00000013125:S758X	S	-	2	0	MAP4K5	49965183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.807000	0.99171	2.783000	0.95769	0.655000	0.94253	TCA	MAP4K5	-	pfam_Citron,smart_Citron		0.279	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	G	NM_006575		50895433	-1	no_errors	ENST00000013125	ensembl	human	known	70_37	nonsense	SNP	1.000	C
MAP4K5	11183	genome.wustl.edu	37	14	50952896	50952896	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:50952896C>G	ENST00000013125.4	-	4	501	c.183G>C	c.(181-183)ttG>ttC	p.L61F	MAP4K5_ENST00000557578.1_5'Flank	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	61	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					CTTGTTGAATCAAAGAAAAAT	0.279																																																	0													57.0	52.0	53.0					14																	50952896		1778	3977	5755	SO:0001583	missense	11183			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.183G>C	14.37:g.50952896C>G	ENSP00000013125:p.Leu61Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IYF6	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L61F	ENST00000013125.4	37	c.183		14	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197620	0.38806	.	.	ENSG00000012983	ENST00000013125;ENST00000557390	T;T	0.65916	-0.18;-0.18	5.26	3.43	0.39272	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.073236	0.56097	D	0.000026	T	0.62417	0.2426	L	0.42581	1.335	0.52099	D	0.999945	B;P	0.51147	0.302;0.942	B;P	0.51777	0.361;0.679	T	0.64639	-0.6360	10	0.56958	D	0.05	.	11.5086	0.50481	0.0:0.8498:0.0:0.1502	.	61;61	B2R928;Q9Y4K4	.;M4K5_HUMAN	F	61	ENSP00000013125:L61F;ENSP00000451980:L61F	ENSP00000013125:L61F	L	-	3	2	MAP4K5	50022646	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.378000	0.34328	1.233000	0.43693	-0.218000	0.12543	TTG	MAP4K5	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.279	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	C	NM_006575		50952896	-1	no_errors	ENST00000013125	ensembl	human	known	70_37	missense	SNP	1.000	G
MAPK3	5595	genome.wustl.edu	37	16	30128563	30128563	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30128563G>C	ENST00000263025.4	-	6	903	c.819C>G	c.(817-819)atC>atG	p.I273M	MAPK3_ENST00000322266.5_Intron|MAPK3_ENST00000484663.1_Missense_Mutation_p.I159M|MAPK3_ENST00000494643.1_5'Flank|MAPK3_ENST00000403394.1_Missense_Mutation_p.I273M|MAPK3_ENST00000395200.1_Missense_Mutation_p.I205M|MAPK3_ENST00000395202.1_Intron|MAPK3_ENST00000395199.3_Missense_Mutation_p.I273M	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)									Arsenic trioxide(DB01169)|Sulindac(DB00605)	CCTTCATGTTGATGATACAAT	0.507																																																	0													125.0	115.0	118.0					16																	30128563		2197	4300	6497	SO:0001583	missense	5595			M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.819C>G	16.37:g.30128563G>C	ENSP00000263025:p.Ile273Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8CZ58|B0LPG3|Q8NHX1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4,pfscan_Prot_kinase_cat_dom	p.I273M	ENST00000263025.4	37	c.819	CCDS10672.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.33|17.33	3.362583|3.362583	0.61403|0.61403	.|.	.|.	ENSG00000102882|ENSG00000102882	ENST00000263025;ENST00000484663;ENST00000403394;ENST00000395200;ENST00000478356;ENST00000395199|ENST00000495629	T;T;T;T;T;T|.	0.65732|.	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17|.	5.7|5.7	3.73|3.73	0.42828|0.42828	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.056288|.	0.64402|.	D|.	0.000001|.	T|.	0.38401|.	0.1039|.	N|N	0.13371|0.13371	0.34|0.34	0.58432|0.58432	D|D	0.999999|0.999999	P;B|.	0.36535|.	0.557;0.419|.	P;P|.	0.59115|.	0.769;0.852|.	T|.	0.10154|.	-1.0642|.	10|.	0.48119|.	T|.	0.1|.	-5.8275|-5.8275	10.8189|10.8189	0.46593|0.46593	0.1462:0.0:0.8538:0.0|0.1462:0.0:0.8538:0.0	.|.	273;273|.	P27361-3;P27361|.	.;MK03_HUMAN|.	M|X	273;159;273;205;36;273|234	ENSP00000263025:I273M;ENSP00000432742:I159M;ENSP00000384895:I273M;ENSP00000378626:I205M;ENSP00000432292:I36M;ENSP00000378625:I273M|.	ENSP00000263025:I273M|.	I|S	-|-	3|2	3|0	MAPK3|MAPK3	30036064|30036064	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.218000|3.218000	0.51192|0.51192	0.743000|0.743000	0.32719|0.32719	0.591000|0.591000	0.81541|0.81541	ATC|TCA	MAPK3	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_ERK1/2,pfscan_Prot_kinase_cat_dom		0.507	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK3	HGNC	protein_coding	OTTHUMT00000255196.2	G			30128563	-1	no_errors	ENST00000263025	ensembl	human	known	70_37	missense	SNP	1.000	C
MAPK9	5601	genome.wustl.edu	37	5	179696336	179696336	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:179696336G>A	ENST00000452135.2	-	3	494	c.196C>T	c.(196-198)Cat>Tat	p.H66Y	MAPK9_ENST00000539014.1_Missense_Mutation_p.H66Y|MAPK9_ENST00000343111.6_Missense_Mutation_p.H66Y|MAPK9_ENST00000455781.1_Missense_Mutation_p.H66Y|MAPK9_ENST00000425491.2_Missense_Mutation_p.H66Y|MAPK9_ENST00000393360.3_Missense_Mutation_p.H66Y|MAPK9_ENST00000347470.4_Missense_Mutation_p.H66Y|MAPK9_ENST00000397072.3_3'UTR			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	66	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTTTGCATGAGTTTGGTTC	0.343																																																	0													123.0	111.0	115.0					5																	179696336		2203	4300	6503	SO:0001583	missense	5601			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.196C>T	5.37:g.179696336G>A	ENSP00000394560:p.His66Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	p.H66Y	ENST00000452135.2	37	c.196	CCDS4453.1	5	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696137	0.68386	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014;ENST00000523583	T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.81	4.94	0.65067	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53012	0.1770	N	0.11364	0.135	0.80722	D	1	B;P;B;B;P	0.51147	0.055;0.942;0.073;0.277;0.806	B;P;B;B;P	0.52309	0.092;0.695;0.151;0.288;0.565	T	0.51387	-0.8712	9	.	.	.	-28.6978	15.3013	0.73955	0.068:0.0:0.932:0.0	.	66;66;66;66;66	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	Y	66	ENSP00000394560:H66Y;ENSP00000377028:H66Y;ENSP00000389338:H66Y;ENSP00000345524:H66Y;ENSP00000321410:H66Y;ENSP00000397422:H66Y;ENSP00000443149:H66Y;ENSP00000430608:H66Y	.	H	-	1	0	MAPK9	179628942	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	7.881000	0.87252	2.746000	0.94184	0.591000	0.81541	CAT	MAPK9	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.343	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK9	HGNC	protein_coding	OTTHUMT00000253530.3	G			179696336	-1	no_errors	ENST00000452135	ensembl	human	known	70_37	missense	SNP	1.000	A
MARCH10	162333	genome.wustl.edu	37	17	60799927	60799927	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:60799927C>T	ENST00000311269.5	-	8	2410	c.2136G>A	c.(2134-2136)gaG>gaA	p.E712E	RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000544856.2_Silent_p.E711E|MARCH10_ENST00000456609.2_Silent_p.E712E|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000583600.1_Silent_p.E750E|RP11-156L14.1_ENST00000577270.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	712					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCTTACACATCTCACAGGTCT	0.443																																																	0													98.0	79.0	86.0					17																	60799927		2203	4300	6503	SO:0001819	synonymous_variant	162333			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.2136G>A	17.37:g.60799927C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.E712	ENST00000311269.5	37	c.2136	CCDS11635.1	17																																																																																			MARCH10	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH		0.443	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MARCH10	HGNC	protein_coding	OTTHUMT00000445252.1	C	NM_152598		60799927	-1	no_errors	ENST00000311269	ensembl	human	known	70_37	silent	SNP	1.000	T
MARCH6	10299	genome.wustl.edu	37	5	10394201	10394201	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:10394201G>A	ENST00000274140.5	+	8	906	c.774G>A	c.(772-774)atG>atA	p.M258I	MARCH6_ENST00000449913.2_Missense_Mutation_p.M210I|MARCH6_ENST00000503788.1_Missense_Mutation_p.M153I	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	258					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CAGATGACATGAATTGGAATG	0.284																																																	0													61.0	61.0	61.0					5																	10394201		2203	4299	6502	SO:0001583	missense	10299			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.774G>A	5.37:g.10394201G>A	ENSP00000274140:p.Met258Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.M258I	ENST00000274140.5	37	c.774	CCDS34135.1	5	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129156	0.56721	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	T;T;T	0.41758	1.99;0.99;1.99	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	N	0.01705	-0.755	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.11060	-1.0603	10	0.19147	T	0.46	-34.4218	19.1444	0.93459	0.0:0.0:1.0:0.0	.	153;210;258	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	I	210;153;258	ENSP00000414643:M210I;ENSP00000425930:M153I;ENSP00000274140:M258I	ENSP00000274140:M258I	M	+	3	0	MARCH6	10447201	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.505000	0.97989	2.523000	0.85059	0.585000	0.79938	ATG	MARCH6	-	NULL		0.284	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2	G	NM_005885		10394201	+1	no_errors	ENST00000274140	ensembl	human	known	70_37	missense	SNP	1.000	A
MARVELD2	153562	genome.wustl.edu	37	5	68728887	68728887	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:68728887G>C	ENST00000325631.5	+	5	1544	c.1470G>C	c.(1468-1470)atG>atC	p.M490I	MARVELD2_ENST00000413223.2_Missense_Mutation_p.M374I	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	490					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ATGCAGTGATGAGCAGATTGC	0.453																																																	0													128.0	120.0	122.0					5																	68728887		2203	4300	6503	SO:0001583	missense	153562			AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.1470G>C	5.37:g.68728887G>C	ENSP00000323264:p.Met490Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_MARVEL-like_dom	p.M490I	ENST00000325631.5	37	c.1470	CCDS34175.1	5	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961075	0.53400	.	.	ENSG00000152939	ENST00000325631;ENST00000454295;ENST00000512803;ENST00000436532;ENST00000413223	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.74	4.86	0.63082	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.072783	0.85682	D	0.000000	T	0.30262	0.0759	L	0.56280	1.765	0.46927	D	0.999256	B;B	0.27625	0.155;0.183	B;B	0.38500	0.275;0.181	T	0.11470	-1.0586	10	0.72032	D	0.01	-17.1495	15.5628	0.76262	0.0:0.1387:0.8613:0.0	.	478;490	Q8N4S9-3;Q8N4S9	.;MALD2_HUMAN	I	490;478;490;374;374	ENSP00000323264:M490I;ENSP00000396244:M478I;ENSP00000423490:M490I;ENSP00000414776:M374I;ENSP00000398922:M374I	ENSP00000323264:M490I	M	+	3	0	MARVELD2	68764643	1.000000	0.71417	0.997000	0.53966	0.885000	0.51271	4.384000	0.59607	1.385000	0.46445	0.655000	0.94253	ATG	MARVELD2	-	pfam_Occludin_RNApol2_elong_fac_ELL		0.453	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MARVELD2	HGNC	protein_coding	OTTHUMT00000369583.1	G	NM_144724		68728887	+1	no_errors	ENST00000325631	ensembl	human	known	70_37	missense	SNP	1.000	C
MAST2	23139	genome.wustl.edu	37	1	46496304	46496304	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:46496304C>G	ENST00000361297.2	+	22	2862	c.2579C>G	c.(2578-2580)tCa>tGa	p.S860*	MAST2_ENST00000372009.2_Nonsense_Mutation_p.S790*	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GAGCGGCTCTCACTGCTCGAG	0.637																																																	0													15.0	18.0	17.0					1																	46496304		2066	4209	6275	SO:0001587	stop_gained	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2579C>G	1.37:g.46496304C>G	ENSP00000354671:p.Ser860*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.S860*	ENST00000361297.2	37	c.2579	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.382889	0.98786	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	.	.	.	4.86	4.86	0.63082	.	0.059008	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.6025	17.1569	0.86793	0.0:1.0:0.0:0.0	.	.	.	.	X	860;790;534;745	.	ENSP00000354671:S860X	S	+	2	0	MAST2	46268891	1.000000	0.71417	0.657000	0.29651	0.615000	0.37417	7.544000	0.82117	2.517000	0.84864	0.561000	0.74099	TCA	MAST2	-	superfamily_Kinase-like_dom		0.637	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	C	NM_015112		46496304	+1	no_errors	ENST00000361297	ensembl	human	known	70_37	nonsense	SNP	0.999	G
MAST2	23139	genome.wustl.edu	37	1	46496373	46496373	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:46496373C>G	ENST00000361297.2	+	22	2931	c.2648C>G	c.(2647-2649)tCa>tGa	p.S883*	MAST2_ENST00000372009.2_Nonsense_Mutation_p.S813*	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GAGGACCATTCAGATGGCCTG	0.637																																																	0													20.0	23.0	22.0					1																	46496373		2041	4180	6221	SO:0001587	stop_gained	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2648C>G	1.37:g.46496373C>G	ENSP00000354671:p.Ser883*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.S883*	ENST00000361297.2	37	c.2648	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.544954	0.98348	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	.	.	.	4.56	3.64	0.41730	.	0.382752	0.24504	N	0.037959	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-7.564	4.7883	0.13236	0.0:0.7354:0.0:0.2646	.	.	.	.	X	883;813;557;768	.	ENSP00000354671:S883X	S	+	2	0	MAST2	46268960	0.279000	0.24239	0.962000	0.40283	0.551000	0.35334	3.786000	0.55431	2.517000	0.84864	0.561000	0.74099	TCA	MAST2	-	NULL		0.637	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	C	NM_015112		46496373	+1	no_errors	ENST00000361297	ensembl	human	known	70_37	nonsense	SNP	0.525	G
MAST4	375449	genome.wustl.edu	37	5	66461117	66461117	+	Missense_Mutation	SNP	C	C	T	rs199523154	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:66461117C>T	ENST00000403625.2	+	29	6405	c.6110C>T	c.(6109-6111)gCg>gTg	p.A2037V	MAST4_ENST00000404260.3_Missense_Mutation_p.A2040V|MAST4_ENST00000261569.7_Missense_Mutation_p.A1843V|MAST4_ENST00000405643.1_Missense_Mutation_p.A1858V|MAST4_ENST00000403666.1_Missense_Mutation_p.A1848V	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2040						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AAAGCATGGGCGCCGGGTGGG	0.557													C|||	10	0.00199681	0.0	0.0	5008	,	,		16642	0.0099		0.0	False		,,,				2504	0.0																0								C	VAL/ALA,VAL/ALA	0,3770		0,0,1885	23.0	29.0	27.0		6110,5543	1.5	0.0	5		27	3,8223		0,3,4110	yes	missense,missense	MAST4	NM_001164664.1,NM_015183.2	64,64	0,3,5995	TT,TC,CC		0.0365,0.0,0.025	benign,benign	2037/2624,1848/2435	66461117	3,11993	1885	4113	5998	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6110C>T	5.37:g.66461117C>T	ENSP00000385727:p.Ala2037Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.A2040V	ENST00000403625.2	37	c.6119	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	C	8.620	0.891175	0.17613	0.0	3.65E-4	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.64991	-0.11;-0.11;-0.13;-0.12;-0.1	4.35	1.51	0.23008	.	1.154300	0.06471	N	0.731230	T	0.44519	0.1297	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.27123	-1.0083	10	0.35671	T	0.21	-0.8327	4.8683	0.13620	0.0896:0.4698:0.307:0.1337	.	2040;1848	O15021;O15021-3	MAST4_HUMAN;.	V	2040;2037;1848;1858;1858;1843	ENSP00000385048:A2040V;ENSP00000385727:A2037V;ENSP00000384313:A1848V;ENSP00000384099:A1858V;ENSP00000261569:A1843V	ENSP00000261569:A1843V	A	+	2	0	MAST4	66496873	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-0.205000	0.09411	0.102000	0.17638	-0.344000	0.07964	GCG	MAST4	-	NULL		0.557	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	C			66461117	+1	no_errors	ENST00000404260	ensembl	human	known	70_37	missense	SNP	0.001	T
MASTL	84930	genome.wustl.edu	37	10	27448577	27448577	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:27448577C>G	ENST00000375940.4	+	3	411	c.354C>G	c.(352-354)gtC>gtG	p.V118V	MASTL_ENST00000342386.6_Silent_p.V118V|MASTL_ENST00000375946.4_Silent_p.V118V			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGGAGATGTCAAGTCTCTCC	0.313																																																	0													66.0	71.0	70.0					10																	27448577		2203	4298	6501	SO:0001819	synonymous_variant	84930			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.354C>G	10.37:g.27448577C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V118	ENST00000375940.4	37	c.354	CCDS53502.1	10																																																																																			MASTL	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.313	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	HGNC	protein_coding	OTTHUMT00000047320.1	C	NM_032844		27448577	+1	no_errors	ENST00000375940	ensembl	human	known	70_37	silent	SNP	1.000	G
MATN2	4147	genome.wustl.edu	37	8	99030257	99030257	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:99030257G>C	ENST00000520016.1	+	11	1856	c.1732G>C	c.(1732-1734)Gaa>Caa	p.E578Q	MATN2_ENST00000522025.2_Missense_Mutation_p.E294Q|MATN2_ENST00000254898.5_Missense_Mutation_p.E578Q|MATN2_ENST00000521689.1_Missense_Mutation_p.E578Q|MATN2_ENST00000524308.1_Missense_Mutation_p.E537Q			O00339	MATN2_HUMAN	matrilin 2	578	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CCATGGCTGTGAACACATTTG	0.483																																																	0													257.0	261.0	260.0					8																	99030257		2076	4213	6289	SO:0001583	missense	4147			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1732G>C	8.37:g.99030257G>C	ENSP00000430487:p.Glu578Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A	p.E578Q	ENST00000520016.1	37	c.1732	CCDS55264.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.43|14.43	2.533431|2.533431	0.45073|0.45073	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016|ENST00000518154;ENST00000517321	D;D;D;D;D|.	0.96685|.	-4.09;-4.09;-4.09;-4.09;-4.09|.	5.2|5.2	5.2|5.2	0.72013|0.72013	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.221665|.	0.32147|.	N|.	0.006519|.	T|.	0.55433|.	0.1920|.	N|N	0.21240|0.21240	0.645|0.645	0.53005|0.53005	D|D	0.999966|0.999966	D;D;D;D|.	0.76494|.	0.996;0.996;0.999;0.996|.	D;D;D;D|.	0.67231|.	0.95;0.95;0.917;0.95|.	T|.	0.49370|.	-0.8947|.	10|.	0.10377|.	T|.	0.69|.	-29.9572|-29.9572	18.9316|18.9316	0.92568|0.92568	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	537;578;578;578|.	C9JH87;E9PF03;O00339-2;O00339|.	.;.;.;MATN2_HUMAN|.	Q|S	578;578;537;537;294;578|360;52	ENSP00000429977:E578Q;ENSP00000254898:E578Q;ENSP00000430221:E537Q;ENSP00000429010:E294Q;ENSP00000430487:E578Q|.	ENSP00000254898:E578Q|.	E|X	+|+	1|2	0|2	MATN2|MATN2	99099433|99099433	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.946000|0.946000	0.59487|0.59487	3.847000|3.847000	0.55895|0.55895	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GAA|TGA	MATN2	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.483	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	MATN2	HGNC	protein_coding	OTTHUMT00000380332.1	G			99030257	+1	no_errors	ENST00000254898	ensembl	human	known	70_37	missense	SNP	1.000	C
MATR3	9782	genome.wustl.edu	37	5	138643658	138643658	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:138643658G>C	ENST00000394805.3	+	2	889	c.554G>C	c.(553-555)aGa>aCa	p.R185T	MATR3_ENST00000361059.2_Missense_Mutation_p.R185T|MATR3_ENST00000502929.1_Missense_Mutation_p.R185T|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000394800.2_Missense_Mutation_p.R185T|MATR3_ENST00000510056.1_Missense_Mutation_p.R185T|MATR3_ENST00000509990.1_Missense_Mutation_p.R185T|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000502499.1_Intron	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	185					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGGCACTTTAGAAGAGATAGT	0.443																																																	0													125.0	117.0	120.0					5																	138643658		2203	4300	6503	SO:0001583	missense	9782			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.554G>C	5.37:g.138643658G>C	ENSP00000378284:p.Arg185Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.R185T	ENST00000394805.3	37	c.554	CCDS4210.1	5	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282693	0.59867	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000504045;ENST00000510056	T;T;T;T;T;D;T	0.82255	-1.3;-1.3;-1.3;-1.3;-1.3;-1.59;-1.32	5.53	5.53	0.82687	.	0.123194	0.85682	D	0.000000	D	0.85779	0.5776	L	0.29908	0.895	0.58432	D	0.999995	D;P;D	0.58268	0.982;0.717;0.982	D;P;D	0.63033	0.91;0.692;0.91	D	0.83917	0.0299	10	0.33940	T	0.23	-13.1769	19.8241	0.96610	0.0:0.0:1.0:0.0	.	185;185;185	D6REM6;A8MXP9;P43243	.;.;MATR3_HUMAN	T	185	ENSP00000423533:R185T;ENSP00000354346:R185T;ENSP00000422319:R185T;ENSP00000378279:R185T;ENSP00000378284:R185T;ENSP00000423290:R185T;ENSP00000426743:R185T	ENSP00000354346:R185T	R	+	2	0	MATR3	138671557	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.510000	0.90532	2.758000	0.94735	0.655000	0.94253	AGA	MATR3	-	NULL		0.443	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MATR3	HGNC	protein_coding	OTTHUMT00000251324.2	G	NM_018834		138643658	+1	no_errors	ENST00000361059	ensembl	human	known	70_37	missense	SNP	1.000	C
MB21D1	115004	genome.wustl.edu	37	6	74135210	74135210	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:74135210G>A	ENST00000370315.3	-	5	1403	c.1309C>T	c.(1309-1311)Cat>Tat	p.H437Y	MB21D1_ENST00000370318.1_Missense_Mutation_p.H437Y	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	437					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						GTTTTCACATGATAAGAAGAG	0.383																																																	0													70.0	66.0	67.0					6																	74135210		2203	4300	6503	SO:0001583	missense	115004			BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"""chromosome 6 open reading frame 150"""	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.1309C>T	6.37:g.74135210G>A	ENSP00000359339:p.His437Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Missense_Mutation	SNP	pfam_Mab-21_dom	p.H437Y	ENST00000370315.3	37	c.1309	CCDS4978.1	6	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773507	0.69992	.	.	ENSG00000164430	ENST00000370318;ENST00000370315;ENST00000296913	T;T	0.10099	2.91;2.91	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	M	0.74546	2.27	0.49130	D	0.999751	D	0.89917	1.0	D	0.91635	0.999	T	0.01093	-1.1454	10	0.87932	D	0	-22.7835	18.2285	0.89926	0.0:0.0:1.0:0.0	.	437	Q8N884	M21D1_HUMAN	Y	437;437;420	ENSP00000359342:H437Y;ENSP00000359339:H437Y	ENSP00000296913:H420Y	H	-	1	0	MB21D1	74191931	1.000000	0.71417	0.974000	0.42286	0.416000	0.31233	7.456000	0.80751	2.750000	0.94351	0.650000	0.86243	CAT	MB21D1	-	pfam_Mab-21_dom		0.383	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D1	HGNC	protein_coding	OTTHUMT00000041221.5	G	NM_138441		74135210	-1	no_errors	ENST00000370315	ensembl	human	known	70_37	missense	SNP	1.000	A
MB21D1	115004	genome.wustl.edu	37	6	74135218	74135218	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:74135218G>C	ENST00000370315.3	-	5	1395	c.1301C>G	c.(1300-1302)tCt>tGt	p.S434C	MB21D1_ENST00000370318.1_Missense_Mutation_p.S434C	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	434					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						ATGATAAGAAGAGAATTTATC	0.378																																																	0													66.0	63.0	64.0					6																	74135218		2203	4300	6503	SO:0001583	missense	115004			BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"""chromosome 6 open reading frame 150"""	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.1301C>G	6.37:g.74135218G>C	ENSP00000359339:p.Ser434Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Missense_Mutation	SNP	pfam_Mab-21_dom	p.S434C	ENST00000370315.3	37	c.1301	CCDS4978.1	6	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058574	0.01950	.	.	ENSG00000164430	ENST00000370318;ENST00000370315;ENST00000296913	T;T	0.09630	2.96;2.96	5.8	1.49	0.22878	.	0.428492	0.24735	N	0.036036	T	0.00468	0.0015	N	0.00143	-2	0.25982	N	0.982355	B	0.06786	0.001	B	0.04013	0.001	T	0.44787	-0.9305	10	0.02654	T	1	-4.962	8.5829	0.33640	0.0:0.615:0.2391:0.1459	.	434	Q8N884	M21D1_HUMAN	C	434;434;417	ENSP00000359342:S434C;ENSP00000359339:S434C	ENSP00000296913:S417C	S	-	2	0	MB21D1	74191939	0.999000	0.42202	0.995000	0.50966	0.628000	0.37860	0.580000	0.23803	0.375000	0.24679	-0.153000	0.13522	TCT	MB21D1	-	pfam_Mab-21_dom		0.378	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D1	HGNC	protein_coding	OTTHUMT00000041221.5	G	NM_138441		74135218	-1	no_errors	ENST00000370315	ensembl	human	known	70_37	missense	SNP	1.000	C
MB21D2	151963	genome.wustl.edu	37	3	192635560	192635560	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:192635560C>T	ENST00000392452.2	-	1	390	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	24							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						AAATCCAGCTCCGGGAACGCA	0.587																																																	0													73.0	69.0	71.0					3																	192635560		2203	4300	6503	SO:0001583	missense	151963			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.70G>A	3.37:g.192635560C>T	ENSP00000376246:p.Glu24Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VD8	Missense_Mutation	SNP	pfam_Mab-21_dom	p.E24K	ENST00000392452.2	37	c.70	CCDS3302.2	3	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447235	0.63178	.	.	ENSG00000180611	ENST00000392452	T	0.47528	0.84	5.66	4.77	0.60923	.	0.130302	0.53938	D	0.000050	T	0.37293	0.0998	L	0.34521	1.04	0.52501	D	0.999957	B	0.27351	0.176	B	0.23716	0.048	T	0.11991	-1.0565	10	0.30854	T	0.27	.	14.5582	0.68118	0.1477:0.8523:0.0:0.0	.	24	Q8IYB1	M21D2_HUMAN	K	24	ENSP00000376246:E24K	ENSP00000376246:E24K	E	-	1	0	MB21D2	194118254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.553000	0.82203	1.353000	0.45828	0.585000	0.79938	GAG	MB21D2	-	NULL		0.587	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1	C	NM_178496		192635560	-1	no_errors	ENST00000392452	ensembl	human	known	70_37	missense	SNP	1.000	T
MBD5	55777	genome.wustl.edu	37	2	149241014	149241014	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:149241014G>C	ENST00000407073.1	+	10	3842				MBD5_ENST00000404807.1_Missense_Mutation_p.E952Q	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5						glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGGCAAGTCTGAGATCAACCT	0.458																																																	0													70.0	74.0	72.0					2																	149241014		2203	4300	6503	SO:0001627	intron_variant	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2845+9G>C	2.37:g.149241014G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP	p.E952Q	ENST00000407073.1	37	c.2854	CCDS33302.1	2	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145014	0.57044	.	.	ENSG00000204406	ENST00000404807	T	0.52057	0.68	5.95	5.95	0.96441	.	.	.	.	.	T	0.61999	0.2392	.	.	.	0.34724	D	0.729061	.	.	.	.	.	.	T	0.66783	-0.5836	5	.	.	.	-4.6888	18.5553	0.91081	0.0:0.0:1.0:0.0	.	.	.	.	Q	952	ENSP00000384672:E952Q	.	E	+	1	0	MBD5	148957484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.668000	0.74457	2.817000	0.96982	0.563000	0.77884	GAG	MBD5	-	NULL		0.458	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	G			149241014	+1	no_errors	ENST00000404807	ensembl	human	novel	70_37	missense	SNP	1.000	C
MBD6	114785	genome.wustl.edu	37	12	57919472	57919472	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:57919472G>A	ENST00000355673.3	+	6	1077	c.721G>A	c.(721-723)Gac>Aac	p.D241N	MBD6_ENST00000431731.2_Missense_Mutation_p.D241N	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	241	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GGTGCCCTCTGACCTGGGCTC	0.632																																																	0													129.0	149.0	142.0					12																	57919472		2203	4300	6503	SO:0001583	missense	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.721G>A	12.37:g.57919472G>A	ENSP00000347896:p.Asp241Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.D241N	ENST00000355673.3	37	c.721	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	g	13.55	2.269840	0.40095	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.1	2.2	0.27929	.	0.000000	0.43747	U	0.000539	T	0.14960	0.0361	N	0.08118	0	0.29081	N	0.882712	B;B	0.19200	0.034;0.032	B;B	0.16289	0.004;0.015	T	0.15636	-1.0430	8	.	.	.	-4.1146	6.1959	0.20550	0.1395:0.0:0.8605:0.0	.	241;241	Q6P0P0;Q96DN6	.;MBD6_HUMAN	N	241	.	.	D	+	1	0	MBD6	56205739	0.996000	0.38824	1.000000	0.80357	0.983000	0.72400	2.601000	0.46249	0.871000	0.35750	0.444000	0.29173	GAC	MBD6	-	NULL		0.632	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	G			57919472	+1	no_errors	ENST00000355673	ensembl	human	known	70_37	missense	SNP	0.998	A
MBD6	114785	genome.wustl.edu	37	12	57919806	57919806	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:57919806C>G	ENST00000355673.3	+	6	1411	c.1055C>G	c.(1054-1056)tCa>tGa	p.S352*	MBD6_ENST00000431731.2_Nonsense_Mutation_p.S352*	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	352	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CAGGCACCCTCAGCTTCCCAC	0.617																																																	0													51.0	53.0	52.0					12																	57919806		2203	4300	6503	SO:0001587	stop_gained	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1055C>G	12.37:g.57919806C>G	ENSP00000347896:p.Ser352*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N3M0|Q8NA81|Q96Q00	Nonsense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.S352*	ENST00000355673.3	37	c.1055	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	c	37	6.528630	0.97637	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	4.24	4.24	0.50183	.	1.188320	0.06641	N	0.761111	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.9771	14.0192	0.64543	0.0:1.0:0.0:0.0	.	.	.	.	X	352	.	.	S	+	2	0	MBD6	56206073	0.990000	0.36364	1.000000	0.80357	0.860000	0.49131	3.080000	0.50112	2.344000	0.79699	0.556000	0.70494	TCA	MBD6	-	NULL		0.617	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	C			57919806	+1	no_errors	ENST00000355673	ensembl	human	known	70_37	nonsense	SNP	1.000	G
MBD6	114785	genome.wustl.edu	37	12	57919872	57919872	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:57919872G>A	ENST00000355673.3	+	6	1477	c.1121G>A	c.(1120-1122)cGa>cAa	p.R374Q	MBD6_ENST00000431731.2_Missense_Mutation_p.R374Q	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	374	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACTGTATTTCGATTGCTAGAA	0.632																																																	0													62.0	66.0	65.0					12																	57919872		2203	4300	6503	SO:0001583	missense	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1121G>A	12.37:g.57919872G>A	ENSP00000347896:p.Arg374Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.R374Q	ENST00000355673.3	37	c.1121	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	g	15.99	2.995659	0.54147	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	4.14	4.14	0.48551	.	0.510531	0.15096	N	0.280809	T	0.37732	0.1014	N	0.08118	0	0.26247	N	0.978774	D;D	0.71674	0.998;0.996	D;P	0.72982	0.979;0.854	T	0.30179	-0.9987	8	.	.	.	-2.6735	13.7991	0.63188	0.0:0.0:1.0:0.0	.	374;374	Q6P0P0;Q96DN6	.;MBD6_HUMAN	Q	374	.	.	R	+	2	0	MBD6	56206139	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	3.467000	0.53078	2.287000	0.76781	0.556000	0.70494	CGA	MBD6	-	NULL		0.632	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	G			57919872	+1	no_errors	ENST00000355673	ensembl	human	known	70_37	missense	SNP	0.960	A
MCCD1	401250	genome.wustl.edu	37	6	31496834	31496834	+	Missense_Mutation	SNP	C	C	T	rs146742941	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:31496834C>T	ENST00000376191.2	+	1	341	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	DDX39B_ENST00000462421.1_5'Flank	NM_001011700.2	NP_001011700.2	P59942	MCCD1_HUMAN	mitochondrial coiled-coil domain 1	15						mitochondrion (GO:0005739)				skin(1)	1						CCATTTCCTTCGCCTCCTTCT	0.627																																																	0								C	CYS/ARG	0,3022		0,0,1511	173.0	128.0	144.0		43	0.8	0.1	6	dbSNP_134	144	2,5416		0,2,2707	yes	missense	MCCD1	NM_001011700.2	180	0,2,4218	TT,TC,CC		0.0369,0.0,0.0237	probably-damaging	15/120	31496834	2,8438	1511	2709	4220	SO:0001583	missense	401250				CCDS34396.1	6p21.3	2003-10-17				ENSG00000204511			20668	protein-coding gene	gene with protein product		609624				14527716	Standard	NM_001011700		Approved		uc003ntp.1	P59942		ENST00000376191.2:c.43C>T	6.37:g.31496834C>T	ENSP00000365362:p.Arg15Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2AB29|A2RUP7|B0UZB2|Q7RTY2	Missense_Mutation	SNP	NULL	p.R15C	ENST00000376191.2	37	c.43	CCDS34396.1	6	.	.	.	.	.	.	.	.	.	.	c	0.103	-1.148811	0.01714	0.0	3.69E-4	ENSG00000204511	ENST00000376191	T	0.25250	1.81	0.748	0.748	0.18376	.	1.197690	0.06338	N	0.707425	T	0.06645	0.0170	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.41770	-0.9490	9	0.72032	D	0.01	.	.	.	.	.	15	P59942	MCCD1_HUMAN	C	15	ENSP00000365362:R15C	ENSP00000365362:R15C	R	+	1	0	MCCD1	31604813	0.000000	0.05858	0.062000	0.19696	0.029000	0.11900	-1.047000	0.03521	0.691000	0.31592	0.555000	0.69702	CGC	MCCD1	-	NULL		0.627	MCCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCCD1	HGNC	protein_coding	OTTHUMT00000259099.1	C			31496834	+1	no_errors	ENST00000376191	ensembl	human	known	70_37	missense	SNP	0.151	T
MCF2L	23263	genome.wustl.edu	37	13	113730449	113730449	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:113730449C>A	ENST00000375608.3	+	13	1626	c.1568C>A	c.(1567-1569)tCc>tAc	p.S523Y	MCF2L_ENST00000423482.2_Missense_Mutation_p.S491Y|MCF2L_ENST00000442652.2_Missense_Mutation_p.S523Y|MCF2L_ENST00000397030.1_Missense_Mutation_p.S526Y|MCF2L_ENST00000434480.2_Missense_Mutation_p.S499Y|MCF2L_ENST00000375604.2_Missense_Mutation_p.S550Y|MCF2L_ENST00000535094.2_Missense_Mutation_p.S493Y|MCF2L_ENST00000375601.3_Missense_Mutation_p.S497Y|MCF2L_ENST00000421756.1_Missense_Mutation_p.S497Y|MCF2L_ENST00000375597.4_Missense_Mutation_p.S491Y			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	523					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GAATACGAATCCATCCTCAAC	0.522																																																	0													103.0	87.0	92.0					13																	113730449		2203	4300	6503	SO:0001583	missense	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1568C>A	13.37:g.113730449C>A	ENSP00000364758:p.Ser523Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.S550Y	ENST00000375608.3	37	c.1649		13	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.806681	0.00606	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	T;T;T;T;T;T;T;T;T;T	0.37752	1.25;1.25;1.18;1.23;1.21;1.23;1.19;1.24;1.21;1.24	5.3	2.5	0.30297	.	1.542630	0.03554	N	0.225963	T	0.36193	0.0958	M	0.72894	2.215	0.09310	N	1	P;B;P;B;B;B	0.37207	0.587;0.358;0.587;0.295;0.338;0.452	B;B;B;B;B;B	0.38500	0.188;0.188;0.275;0.091;0.188;0.142	T	0.29610	-1.0006	10	0.02654	T	1	.	5.7391	0.18083	0.135:0.5464:0.2458:0.0728	.	491;493;550;455;491;523	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	Y	523;523;550;526;493;497;497;499;491;491;334	ENSP00000364758:S523Y;ENSP00000401422:S523Y;ENSP00000364754:S550Y;ENSP00000380225:S526Y;ENSP00000440374:S493Y;ENSP00000397285:S497Y;ENSP00000364751:S497Y;ENSP00000407722:S499Y;ENSP00000405639:S491Y;ENSP00000364747:S491Y	ENSP00000364747:S491Y	S	+	2	0	MCF2L	112778450	0.001000	0.12720	0.197000	0.23402	0.315000	0.28087	1.449000	0.35123	0.188000	0.20168	0.650000	0.86243	TCC	MCF2L	-	NULL		0.522	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	C			113730449	+1	no_errors	ENST00000375604	ensembl	human	known	70_37	missense	SNP	0.006	A
MCL1	4170	genome.wustl.edu	37	1	150551522	150551522	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:150551522G>C	ENST00000369026.2	-	1	544	c.485C>G	c.(484-486)tCg>tGg	p.S162W	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_Missense_Mutation_p.S162W	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	162	PEST-like.				apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CGGCGGCGTCGAGGGTAGTGA	0.647																																																	0													46.0	48.0	47.0					1																	150551522		2203	4300	6503	SO:0001583	missense	4170			BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.485C>G	1.37:g.150551522G>C	ENSP00000358022:p.Ser162Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Missense_Mutation	SNP	pfam_Blc2_fam,pfscan_Bcl2-like,prints_Apop_reg_Mc1,prints_Blc2_fam	p.S162W	ENST00000369026.2	37	c.485	CCDS957.1	1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548208	0.65311	.	.	ENSG00000143384	ENST00000369026;ENST00000307940;ENST00000439749	T;T	0.04862	3.54;3.54	4.99	4.06	0.47325	.	0.898738	0.09470	N	0.797802	T	0.09158	0.0226	L	0.29908	0.895	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.979	T	0.10823	-1.0613	10	0.87932	D	0	-2.8771	13.0244	0.58806	0.0:0.1634:0.8366:0.0	.	162;162	Q07820-2;Q07820	.;MCL1_HUMAN	W	162;162;91	ENSP00000358022:S162W;ENSP00000309973:S162W	ENSP00000309973:S162W	S	-	2	0	MCL1	148818146	1.000000	0.71417	0.999000	0.59377	0.471000	0.32888	2.707000	0.47143	1.289000	0.44618	0.655000	0.94253	TCG	MCL1	-	NULL		0.647	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCL1	HGNC	protein_coding	OTTHUMT00000084402.1	G	NM_021960		150551522	-1	no_errors	ENST00000369026	ensembl	human	known	70_37	missense	SNP	1.000	C
MCM2	4171	genome.wustl.edu	37	3	127327821	127327821	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:127327821G>A	ENST00000265056.7	+	8	1627	c.1383G>A	c.(1381-1383)gtG>gtA	p.V461V		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	461					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						ATGAAGATGTGAAGATGATCA	0.547																																																	0													142.0	117.0	126.0					3																	127327821		2203	4300	6503	SO:0001819	synonymous_variant	4171			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1383G>A	3.37:g.127327821G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	pfam_MCM_DNA-dep_ATPase,pfam_MCM_2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_2,prints_MCM_DNA-dep_ATPase	p.V461	ENST00000265056.7	37	c.1383	CCDS3043.1	3																																																																																			MCM2	-	pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase		0.547	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM2	HGNC	protein_coding	OTTHUMT00000356612.1	G			127327821	+1	no_errors	ENST00000265056	ensembl	human	known	70_37	silent	SNP	1.000	A
MCM4	4173	genome.wustl.edu	37	8	48880005	48880005	+	Silent	SNP	C	C	G	rs200241768		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:48880005C>G	ENST00000262105.2	+	9	1343	c.1134C>G	c.(1132-1134)ctC>ctG	p.L378L	MCM4_ENST00000523944.1_Silent_p.L378L	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	378					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACAATGATCTCGTTGACAAGG	0.502																																																	0													239.0	195.0	210.0					8																	48880005		2203	4300	6503	SO:0001819	synonymous_variant	4173				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1134C>G	8.37:g.48880005C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NEH1|Q99658	Silent	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase	p.L378	ENST00000262105.2	37	c.1134	CCDS6143.1	8																																																																																			MCM4	-	superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase		0.502	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM4	HGNC	protein_coding	OTTHUMT00000377791.1	C	NM_005914		48880005	+1	no_errors	ENST00000262105	ensembl	human	known	70_37	silent	SNP	0.312	G
MCTP2	55784	genome.wustl.edu	37	15	94899419	94899419	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:94899419C>G	ENST00000357742.4	+	8	1059	c.1059C>G	c.(1057-1059)ctC>ctG	p.L353L	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Silent_p.L353L|MCTP2_ENST00000557742.1_5'UTR|MCTP2_ENST00000543482.1_Silent_p.L353L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	353	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGAACCAACTCTGGAACGGGA	0.403																																																	0													131.0	135.0	134.0					15																	94899419		2197	4298	6495	SO:0001819	synonymous_variant	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1059C>G	15.37:g.94899419C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L353	ENST00000357742.4	37	c.1059	CCDS32338.1	15																																																																																			MCTP2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.403	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3	C	NM_018349		94899419	+1	no_errors	ENST00000357742	ensembl	human	known	70_37	silent	SNP	1.000	G
MDC1	9656	genome.wustl.edu	37	6	30671987	30671987	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:30671987G>A	ENST00000376406.3	-	10	5620	c.4973C>T	c.(4972-4974)tCt>tTt	p.S1658F	MDC1_ENST00000376405.2_Missense_Mutation_p.S1394F|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1658					DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTCAAGATCAGAGGCTGCTGG	0.537								Other conserved DNA damage response genes																																									0													109.0	113.0	112.0					6																	30671987		2203	4300	6503	SO:0001583	missense	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4973C>T	6.37:g.30671987G>A	ENSP00000365588:p.Ser1658Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.S1658F	ENST00000376406.3	37	c.4973	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656973	0.47467	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.05580	3.42;3.42	3.67	1.82	0.25136	.	0.908846	0.08949	N	0.870458	T	0.07593	0.0191	L	0.57536	1.79	0.09310	N	1	D;D	0.67145	0.996;0.988	D;P	0.64877	0.93;0.758	T	0.27020	-1.0086	10	0.87932	D	0	1.7054	4.9908	0.14213	0.1186:0.2169:0.6645:0.0	.	1394;1658	Q14676-2;Q14676	.;MDC1_HUMAN	F	1658;1394;1371;1224	ENSP00000365588:S1658F;ENSP00000365587:S1394F	ENSP00000365587:S1394F	S	-	2	0	MDC1	30779966	0.000000	0.05858	0.001000	0.08648	0.418000	0.31294	0.396000	0.20867	0.504000	0.28082	0.449000	0.29647	TCT	MDC1	-	NULL		0.537	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	G	NM_014641		30671987	-1	no_errors	ENST00000376406	ensembl	human	known	70_37	missense	SNP	0.001	A
MDC1	9656	genome.wustl.edu	37	6	30675414	30675414	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:30675414G>A	ENST00000376406.3	-	8	3589	c.2942C>T	c.(2941-2943)tCa>tTa	p.S981L	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	981				Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TACGGGGGCTGAGGTAGGTCC	0.657								Other conserved DNA damage response genes																																									0													71.0	81.0	78.0					6																	30675414		1509	2707	4216	SO:0001583	missense	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.2942C>T	6.37:g.30675414G>A	ENSP00000365588:p.Ser981Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.S981L	ENST00000376406.3	37	c.2942	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	g	12.00	1.805755	0.31961	.	.	ENSG00000137337	ENST00000376406;ENST00000429610	T	0.02944	4.1	3.54	3.54	0.40534	.	.	.	.	.	T	0.01189	0.0039	L	0.32530	0.975	0.80722	D	1	B	0.29862	0.259	B	0.24848	0.056	T	0.51710	-0.8671	9	0.59425	D	0.04	-2.2382	10.4838	0.44708	0.0:0.0:1.0:0.0	.	981	Q14676	MDC1_HUMAN	L	981	ENSP00000365588:S981L	ENSP00000365588:S981L	S	-	2	0	MDC1	30783393	0.006000	0.16342	0.398000	0.26321	0.100000	0.18952	0.549000	0.23329	1.811000	0.52892	0.443000	0.29094	TCA	MDC1	-	NULL		0.657	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	G	NM_014641		30675414	-1	no_errors	ENST00000376406	ensembl	human	known	70_37	missense	SNP	0.486	A
MDC1	9656	genome.wustl.edu	37	6	30681015	30681015	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:30681015G>C	ENST00000376406.3	-	5	1351	c.704C>G	c.(703-705)tCa>tGa	p.S235*	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Nonsense_Mutation_p.S235*	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	235	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TCTGGCAGCTGAGGAGGCCTC	0.537								Other conserved DNA damage response genes																																									0													89.0	98.0	95.0					6																	30681015		1509	2708	4217	SO:0001587	stop_gained	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.704C>G	6.37:g.30681015G>C	ENSP00000365588:p.Ser235*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Nonsense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.S235*	ENST00000376406.3	37	c.704	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727471	0.69074	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104;ENST00000435797	.	.	.	4.96	-3.5	0.04710	.	1.214100	0.06380	N	0.715153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.2548	11.5288	0.50595	0.7187:0.0:0.2813:0.0	.	.	.	.	X	235;235;235;107;235	.	ENSP00000365587:S235X	S	-	2	0	MDC1	30788994	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.353000	0.20130	-0.639000	0.05502	-0.258000	0.10820	TCA	MDC1	-	NULL		0.537	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	G	NM_014641		30681015	-1	no_errors	ENST00000376406	ensembl	human	known	70_37	nonsense	SNP	0.000	C
MDFIC	29969	genome.wustl.edu	37	7	114655985	114655985	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:114655985C>T	ENST00000393486.1	+	5	1327	c.737C>T	c.(736-738)tCa>tTa	p.S246L	MDFIC_ENST00000257724.3_Missense_Mutation_p.S355L	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						TGTTTTCCTTCATAAATATTT	0.363																																																	0													194.0	178.0	183.0					7																	114655985		2203	4300	6503	SO:0001583	missense	29969			AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.737C>T	7.37:g.114655985C>T	ENSP00000377126:p.Ser246Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S246L	ENST00000393486.1	37	c.737	CCDS55155.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.480653	0.96307	.	.	ENSG00000135272	ENST00000257724;ENST00000393486	.	.	.	5.63	5.63	0.86233	.	0.286515	0.34338	N	0.004046	T	0.59891	0.2227	N	0.14661	0.345	0.80722	D	1	D	0.59767	0.986	P	0.58660	0.843	T	0.66536	-0.5899	9	0.87932	D	0	-17.2059	19.6873	0.95984	0.0:1.0:0.0:0.0	.	246	Q9P1T7	MDFIC_HUMAN	L	355;246	.	ENSP00000257724:S355L	S	+	2	0	MDFIC	114443221	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.650000	0.89964	0.557000	0.71058	TCA	MDFIC	-	NULL		0.363	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDFIC	HGNC	protein_coding	OTTHUMT00000059968.4	C	NM_199072		114655985	+1	no_errors	ENST00000393486	ensembl	human	known	70_37	missense	SNP	1.000	T
MED13	9969	genome.wustl.edu	37	17	60040170	60040171	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G|C	G|C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:60040170_60040171GC>AA	ENST00000397786.2	-	21	5082_5083	c.5006_5007GC>TT	c.(5005-5007)tGC>tTT	p.C1669F		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1669					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTCTAGAAAGCATCGAAGTAG	0.376																																																	0																																										SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5006_5007delinsAA	17.37:g.60040170_60040171delinsAA	ENSP00000380888:p.Cys1669Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU05|O60334	Silent|Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.C1669|p.C1669F	ENST00000397786.2	37	c.5007|c.5006	CCDS42366.1	17																																																																																			MED13	-	pfam_Mediator_Med13		0.376	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	G|C	NM_005121		60040170|60040171	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	silent|missense	SNP	1.000	A
MED23	9439	genome.wustl.edu	37	6	131919782	131919782	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:131919782G>A	ENST00000368068.3	-	19	2519	c.2340C>T	c.(2338-2340)ttC>ttT	p.F780F	MED23_ENST00000540546.1_Silent_p.F786F|MED23_ENST00000403834.3_Silent_p.F786F|MED23_ENST00000368058.1_Silent_p.F786F|MED23_ENST00000354577.4_Silent_p.F786F|MED23_ENST00000545957.1_Silent_p.F421F|MED23_ENST00000368053.4_Silent_p.F786F|MED23_ENST00000479213.1_5'Flank|MED23_ENST00000368060.3_Silent_p.F780F	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	780					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CCTGCATAGAGAAGTGGGTAA	0.408																																																	0													159.0	152.0	154.0					6																	131919782		2203	4300	6503	SO:0001819	synonymous_variant	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2340C>T	6.37:g.131919782G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	pfam_Mediator_Med23	p.F786	ENST00000368068.3	37	c.2358	CCDS5147.1	6																																																																																			MED23	-	pfam_Mediator_Med23		0.408	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	G			131919782	-1	no_errors	ENST00000368058	ensembl	human	known	70_37	silent	SNP	0.974	A
MED24	9862	genome.wustl.edu	37	17	38179451	38179451	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:38179451G>C	ENST00000394128.2	-	20	2264	c.2183C>G	c.(2182-2184)tCc>tGc	p.S728C	MED24_ENST00000394127.2_Missense_Mutation_p.S715C|MED24_ENST00000501516.3_Missense_Mutation_p.S747C|MED24_ENST00000394126.1_Missense_Mutation_p.S753C|MED24_ENST00000356271.3_Missense_Mutation_p.S715C	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	728					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GATGTGGATGGAGCGGCTGTC	0.587																																																	0													67.0	62.0	64.0					17																	38179451		2203	4300	6503	SO:0001583	missense	9862			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.2183C>G	17.37:g.38179451G>C	ENSP00000377686:p.Ser728Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	pfam_Mediator_Med24_N	p.S728C	ENST00000394128.2	37	c.2183	CCDS11359.1	17	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606439	0.46527	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000535508;ENST00000501516;ENST00000431269	T;T;T	0.47869	0.83;0.83;0.83	4.43	4.43	0.53597	Mediator complex, subunit Med24, N-terminal (1);	0.114317	0.64402	D	0.000011	T	0.50939	0.1645	N	0.22421	0.69	0.51767	D	0.999938	D;D;D;D;D;D	0.61697	0.99;0.965;0.975;0.965;0.971;0.965	P;P;P;P;P;P	0.57371	0.723;0.723;0.749;0.723;0.819;0.723	T	0.58381	-0.7646	10	0.72032	D	0.01	-20.4084	17.2528	0.87047	0.0:0.0:1.0:0.0	.	678;638;638;715;728;670	F5H5K2;F8W9R9;B4E1A5;O75448-2;O75448;F5H0K1	.;.;.;.;MED24_HUMAN;.	C	728;728;728;678;715;670;289;199;638	ENSP00000377686:S728C;ENSP00000443344:S678C;ENSP00000377685:S715C	ENSP00000348610:S728C	S	-	2	0	MED24	35432977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.607000	0.98328	2.280000	0.76307	0.561000	0.74099	TCC	MED24	-	pfam_Mediator_Med24_N		0.587	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MED24	HGNC	protein_coding	OTTHUMT00000257147.2	G	NM_014815		38179451	-1	no_errors	ENST00000394128	ensembl	human	known	70_37	missense	SNP	1.000	C
MED29	55588	genome.wustl.edu	37	19	39882224	39882224	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:39882224C>G	ENST00000599213.2	+	1	189	c.162C>G	c.(160-162)ttC>ttG	p.F54L	PAF1_ENST00000221265.3_5'Flank|MED29_ENST00000315588.5_Missense_Mutation_p.F75L|MED29_ENST00000594368.1_Missense_Mutation_p.F54L|PAF1_ENST00000595564.1_5'Flank|PAF1_ENST00000221266.7_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29	54	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AACAGGACTTCGATCCTGTGC	0.597																																																	0													42.0	42.0	42.0					19																	39882224		2203	4299	6502	SO:0001583	missense	55588			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.162C>G	19.37:g.39882224C>G	ENSP00000471802:p.Phe54Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	pfam_Mediator_Med29_met	p.F75L	ENST00000599213.2	37	c.225		19	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744051	0.30865	.	.	ENSG00000063322	ENST00000315588	.	.	.	5.79	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.49167	0.1541	N	0.13140	0.3	0.40559	D	0.981198	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.36939	-0.9727	9	0.07325	T	0.83	-41.9511	11.1451	0.48426	0.0:0.9135:0.0:0.0865	.	54;75	Q9NX70;B4DUA7	MED29_HUMAN;.	L	75	.	ENSP00000314343:F75L	F	+	3	2	MED29	44574064	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.403000	0.20982	2.734000	0.93682	0.655000	0.94253	TTC	MED29	-	pfam_Mediator_Med29_met		0.597	MED29-011	KNOWN	basic|appris_candidate	protein_coding	MED29	HGNC	protein_coding	OTTHUMT00000470870.1	C	XM_290829		39882224	+1	no_errors	ENST00000315588	ensembl	human	known	70_37	missense	SNP	1.000	G
MED30	90390	genome.wustl.edu	37	8	118533247	118533247	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:118533247C>G	ENST00000297347.3	+	1	296	c.132C>G	c.(130-132)atC>atG	p.I44M	MED30_ENST00000522839.1_Missense_Mutation_p.I44M	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	44					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			TGCAGGACATCGTGTACCGCA	0.692																																					Melanoma(81;817 1341 9674 26244 29255)												0													38.0	35.0	36.0					8																	118533247		2203	4300	6503	SO:0001583	missense	90390			AY083305	CCDS6323.1, CCDS64959.1	8q24.11	2007-07-30	2007-07-30	2007-07-30	ENSG00000164758	ENSG00000164758			23032	protein-coding gene	gene with protein product		610237	"""thyroid hormone receptor associated protein 6"""	THRAP6			Standard	NM_080651		Approved	TRAP25	uc003yoj.3	Q96HR3	OTTHUMG00000164920	ENST00000297347.3:c.132C>G	8.37:g.118533247C>G	ENSP00000297347:p.Ile44Met	Somatic		WXS	Illumina HiSeq	Phase_IV	C6GKU9	Missense_Mutation	SNP	pfam_Mediator_Med30_met	p.I44M	ENST00000297347.3	37	c.132	CCDS6323.1	8	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877714	0.72294	.	.	ENSG00000164758	ENST00000297347;ENST00000522839	.	.	.	5.52	3.71	0.42584	Mediator complex, subunit Med30, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.71796	0.3382	M	0.73962	2.25	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.74023	0.951;0.982	T	0.74429	-0.3668	9	0.72032	D	0.01	-1.6732	9.6026	0.39615	0.0:0.7748:0.0:0.2252	.	44;44	C6GKU9;Q96HR3	.;MED30_HUMAN	M	44	.	ENSP00000297347:I44M	I	+	3	3	MED30	118602428	0.988000	0.35896	1.000000	0.80357	0.992000	0.81027	0.270000	0.18607	1.574000	0.49760	-0.244000	0.11960	ATC	MED30	-	pfam_Mediator_Med30_met		0.692	MED30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED30	HGNC	protein_coding	OTTHUMT00000380923.1	C	NM_080651		118533247	+1	no_errors	ENST00000297347	ensembl	human	known	70_37	missense	SNP	1.000	G
MED6	10001	genome.wustl.edu	37	14	71051553	71051553	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:71051553C>T	ENST00000256379.5	-	8	747	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	MED6_ENST00000554963.1_Missense_Mutation_p.E240K|MED6_ENST00000440435.2_3'UTR|MED6_ENST00000430055.2_Missense_Mutation_p.E247K	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	240					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		ATCCGTTTTTCAGGGGGGCCT	0.448																																																	0													207.0	183.0	191.0					14																	71051553		2203	4300	6503	SO:0001583	missense	10001			BC004106	CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1	14q24.1	2013-02-28	2007-07-30		ENSG00000133997	ENSG00000133997			19970	protein-coding gene	gene with protein product		602984	"""mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae)"""			9234719, 9671713	Standard	NM_001284209		Approved	NY-REN-28	uc001xmf.3	O75586	OTTHUMG00000171252	ENST00000256379.5:c.718G>A	14.37:g.71051553C>T	ENSP00000256379:p.Glu240Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	Missense_Mutation	SNP	pfam_Mediator_Med6,pirsf_Mediator_Med6_met/pln	p.E240K	ENST00000256379.5	37	c.718	CCDS9805.1	14	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069129	0.76301	.	.	ENSG00000133997	ENST00000554963;ENST00000256379;ENST00000430055	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.79511	0.4458	M	0.80847	2.515	0.80722	D	1	B;P	0.52842	0.002;0.956	B;P	0.62184	0.002;0.899	T	0.79410	-0.1815	9	0.48119	T	0.1	-14.1936	18.7148	0.91671	0.0:1.0:0.0:0.0	.	247;240	B4DU17;O75586	.;MED6_HUMAN	K	240;240;247	.	ENSP00000256379:E240K	E	-	1	0	MED6	70121306	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.076000	0.71267	2.716000	0.92895	0.655000	0.94253	GAA	MED6	-	pirsf_Mediator_Med6_met/pln		0.448	MED6-001	KNOWN	basic|CCDS	protein_coding	MED6	HGNC	protein_coding	OTTHUMT00000412560.2	C	NM_005466		71051553	-1	no_errors	ENST00000256379	ensembl	human	known	70_37	missense	SNP	1.000	T
MED9	55090	genome.wustl.edu	37	17	17380526	17380526	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:17380526G>C	ENST00000268711.3	+	1	227	c.171G>C	c.(169-171)gcG>gcC	p.A57A	MED9_ENST00000585041.1_3'UTR|MED9_ENST00000580462.1_Silent_p.A57A	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	57						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						cTGCCCGCGCGAGGGAGGAAG	0.622																																																	0													29.0	30.0	30.0					17																	17380526		2203	4300	6503	SO:0001819	synonymous_variant	55090			BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"""mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"""			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.171G>C	17.37:g.17380526G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Mediator_Med9	p.A57	ENST00000268711.3	37	c.171	CCDS11184.1	17																																																																																			MED9	-	NULL		0.622	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED9	HGNC	protein_coding	OTTHUMT00000131669.2	G	NM_018019		17380526	+1	no_errors	ENST00000268711	ensembl	human	known	70_37	silent	SNP	0.976	C
MEFV	4210	genome.wustl.edu	37	16	3297155	3297155	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:3297155G>A	ENST00000219596.1	-	5	1487	c.1448C>T	c.(1447-1449)tCa>tTa	p.S483L	MEFV_ENST00000536379.1_Missense_Mutation_p.S272L|MEFV_ENST00000339854.4_Missense_Mutation_p.S303L|MEFV_ENST00000541159.1_Missense_Mutation_p.S272L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	483	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GTCCTCCAGTGAGGCCACAAA	0.577																																																	0													175.0	160.0	165.0					16																	3297155		2197	4300	6497	SO:0001583	missense	4210			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1448C>T	16.37:g.3297155G>A	ENSP00000219596:p.Ser483Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.S483L	ENST00000219596.1	37	c.1448	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	G	6.351	0.432930	0.12045	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.64085	-0.08;0.35;0.27;0.35	5.29	3.33	0.38152	.	0.289542	0.25414	N	0.030851	T	0.46600	0.1401	L	0.41236	1.265	0.23506	N	0.997538	B	0.29716	0.255	B	0.24394	0.053	T	0.27157	-1.0082	10	0.28530	T	0.3	-22.8213	7.6411	0.28294	0.0:0.5444:0.3682:0.0874	.	483	O15553	MEFV_HUMAN	L	483;483;303;272;272;272	ENSP00000219596:S483L;ENSP00000339639:S303L;ENSP00000438711:S272L;ENSP00000445079:S272L	ENSP00000219596:S483L	S	-	2	0	MEFV	3237156	0.002000	0.14202	0.708000	0.30435	0.020000	0.10135	0.125000	0.15749	0.803000	0.34113	-0.165000	0.13383	TCA	MEFV	-	NULL		0.577	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	G	NM_000243		3297155	-1	no_errors	ENST00000219596	ensembl	human	known	70_37	missense	SNP	0.505	A
MEIS3	56917	genome.wustl.edu	37	19	47910702	47910702	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:47910702G>A	ENST00000558555.1	-	9	1046				MEIS3_ENST00000331559.5_Missense_Mutation_p.S310F|MEIS3_ENST00000560253.1_Intron|MEIS3_ENST00000441740.2_Intron|MEIS3_ENST00000559524.1_Missense_Mutation_p.S327F|MEIS3_ENST00000561293.1_Missense_Mutation_p.S327F|MEIS3_ENST00000561096.1_Intron			Q99687	MEIS3_HUMAN	Meis homeobox 3						negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CCACCAGCAAGAGTCACTCTG	0.667																																																	0													35.0	35.0	35.0					19																	47910702		2202	4296	6498	SO:0001627	intron_variant	56917			BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.859-17C>T	19.37:g.47910702G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S327F	ENST00000558555.1	37	c.980		19	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203243	0.58234	.	.	ENSG00000105419	ENST00000331559	.	.	.	3.82	1.64	0.23874	.	.	.	.	.	T	0.22936	0.0554	N	0.08118	0	0.20196	N	0.99992	B	0.11235	0.004	B	0.12156	0.007	T	0.23547	-1.0185	8	0.87932	D	0	-7.4243	8.1604	0.31196	0.2092:0.0:0.7908:0.0	.	327	Q99687-2	.	F	327	.	ENSP00000333552:S327F	S	-	2	0	MEIS3	52602514	1.000000	0.71417	0.840000	0.33206	0.862000	0.49288	2.432000	0.44784	0.573000	0.29400	0.491000	0.48974	TCT	MEIS3	-	smart_Homeodomain		0.667	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	MEIS3	HGNC	protein_coding	OTTHUMT00000417642.1	G	XM_085929		47910702	-1	no_errors	ENST00000559524	ensembl	human	known	70_37	missense	SNP	0.944	A
MESDC1	59274	genome.wustl.edu	37	15	81295598	81295598	+	Missense_Mutation	SNP	C	C	T	rs369279695		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:81295598C>T	ENST00000267984.2	+	1	2304	c.986C>T	c.(985-987)tCg>tTg	p.S329L		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	329										endometrium(1)|lung(2)	3						CTGAGGAACTCGGCCTGCGCC	0.617																																																	0								C	LEU/SER	1,4399		0,1,2199	14.0	18.0	17.0		986	3.9	1.0	15		17	0,8594		0,0,4297	no	missense	MESDC1	NM_022566.2	145	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	benign	329/363	81295598	1,12993	2200	4297	6497	SO:0001583	missense	59274			AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.986C>T	15.37:g.81295598C>T	ENSP00000267984:p.Ser329Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S329L	ENST00000267984.2	37	c.986	CCDS10316.1	15	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492467	0.64074	2.27E-4	0.0	ENSG00000140406	ENST00000267984	.	.	.	4.86	3.93	0.45458	.	0.000000	0.64402	U	0.000003	T	0.37679	0.1012	L	0.32530	0.975	0.58432	D	0.999995	P	0.51351	0.944	B	0.39185	0.293	T	0.12682	-1.0538	9	0.13470	T	0.59	-9.0879	14.301	0.66352	0.15:0.85:0.0:0.0	.	329	Q9H1K6	MESD1_HUMAN	L	329	.	ENSP00000267984:S329L	S	+	2	0	MESDC1	79082653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.301000	0.78850	0.996000	0.38943	0.549000	0.68633	TCG	MESDC1	-	NULL		0.617	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MESDC1	HGNC	protein_coding	OTTHUMT00000291390.1	C	NM_022566		81295598	+1	no_errors	ENST00000267984	ensembl	human	known	70_37	missense	SNP	1.000	T
MET	4233	genome.wustl.edu	37	7	116339698	116339698	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:116339698C>G	ENST00000318493.6	+	2	747	c.560C>G	c.(559-561)tCt>tGt	p.S187C	MET_ENST00000436117.2_Missense_Mutation_p.S187C|MET_ENST00000397752.3_Missense_Mutation_p.S187C			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTCCTTTCATCTGTAAAGGAC	0.463			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													110.0	110.0	110.0					7																	116339698		1936	4116	6052	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.560C>G	7.37:g.116339698C>G	ENSP00000317272:p.Ser187Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S187C	ENST00000318493.6	37	c.560	CCDS47689.1	7	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268157	0.40095	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.11169	2.8;2.8;2.8	6.17	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.392164	0.29328	N	0.012474	T	0.31949	0.0813	M	0.79475	2.455	0.80722	D	1	P;P;P;P;P;P;P;P;P;P;P;P;P	0.52463	0.936;0.767;0.767;0.767;0.767;0.767;0.767;0.767;0.918;0.508;0.564;0.953;0.953	P;P;P;P;P;P;P;P;P;P;P;P;P	0.62014	0.65;0.778;0.897;0.852;0.852;0.852;0.852;0.778;0.877;0.669;0.778;0.8;0.8	T	0.00451	-1.1731	10	0.56958	D	0.05	-10.8024	15.01	0.71542	0.0:0.9327:0.0:0.0673	.	187;187;187;187;187;187;187;187;187;187;187;187;187	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	C	187	ENSP00000380860:S187C;ENSP00000317272:S187C;ENSP00000410980:S187C	ENSP00000317272:S187C	S	+	2	0	MET	116126934	0.994000	0.37717	0.024000	0.17045	0.733000	0.41908	4.090000	0.57693	2.941000	0.99782	0.655000	0.94253	TCT	MET	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag		0.463	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	C			116339698	+1	no_errors	ENST00000318493	ensembl	human	known	70_37	missense	SNP	0.558	G
METTL12	751071	genome.wustl.edu	37	11	62434026	62434026	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:62434026C>T	ENST00000532971.1	+	3	483	c.226C>T	c.(226-228)Cct>Tct	p.P76S	C11orf48_ENST00000525675.1_5'Flank|RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000524958.1_5'Flank|C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000431002.2_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000532208.1_Intron|SNORA57_ENST00000383870.1_RNA	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	76						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GGCTGCCAGTCCTCTGCGAGT	0.587																																																	0													53.0	61.0	58.0					11																	62434026		2015	4185	6200	SO:0001583	missense	751071			BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.226C>T	11.37:g.62434026C>T	ENSP00000431287:p.Pro76Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4C1	Missense_Mutation	SNP	pfam_Methyltransf_11	p.P76S	ENST00000532971.1	37	c.226	CCDS41657.1	11	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977110	0.34848	.	.	ENSG00000214756	ENST00000532971	T	0.44881	0.91	4.9	2.93	0.34026	.	0.407958	0.16543	U	0.209849	T	0.31702	0.0805	L	0.47078	1.49	0.09310	N	1	B	0.25850	0.136	B	0.27608	0.081	T	0.19386	-1.0307	10	0.21014	T	0.42	-4.6219	6.3673	0.21461	0.1791:0.7265:0.0:0.0943	.	76	A8MUP2	MTL12_HUMAN	S	76	ENSP00000431287:P76S	ENSP00000431287:P76S	P	+	1	0	METTL12	62190602	0.082000	0.21442	0.006000	0.13384	0.546000	0.35178	0.847000	0.27696	0.704000	0.31869	0.591000	0.81541	CCT	METTL12	-	NULL		0.587	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL12	HGNC	protein_coding	OTTHUMT00000394990.1	C	NM_001043229		62434026	+1	no_errors	ENST00000532971	ensembl	human	known	70_37	missense	SNP	0.004	T
METTL12	751071	genome.wustl.edu	37	11	62434345	62434345	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:62434345C>G	ENST00000532971.1	+	3	802	c.545C>G	c.(544-546)tCa>tGa	p.S182*	C11orf48_ENST00000525675.1_5'Flank|RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000524958.1_5'Flank|C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000431002.2_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000532208.1_Intron|SNORA57_ENST00000383870.1_RNA	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	182						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						CAGCTTCTATCAGAATGCTTG	0.562																																																	0													50.0	51.0	51.0					11																	62434345		1913	4128	6041	SO:0001587	stop_gained	751071			BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.545C>G	11.37:g.62434345C>G	ENSP00000431287:p.Ser182*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4C1	Nonsense_Mutation	SNP	pfam_Methyltransf_11	p.S182*	ENST00000532971.1	37	c.545	CCDS41657.1	11	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421884	0.62622	.	.	ENSG00000214756	ENST00000532971	.	.	.	4.36	4.36	0.52297	.	1.571860	0.04767	U	0.427422	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-8.7796	9.9268	0.41496	0.203:0.797:0.0:0.0	.	.	.	.	X	182	.	ENSP00000431287:S182X	S	+	2	0	METTL12	62190921	0.000000	0.05858	0.940000	0.37924	0.337000	0.28794	0.058000	0.14301	2.429000	0.82318	0.555000	0.69702	TCA	METTL12	-	pfam_Methyltransf_11		0.562	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL12	HGNC	protein_coding	OTTHUMT00000394990.1	C	NM_001043229		62434345	+1	no_errors	ENST00000532971	ensembl	human	known	70_37	nonsense	SNP	0.598	G
METTL12	751071	genome.wustl.edu	37	11	62434438	62434438	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:62434438C>T	ENST00000532971.1	+	3	895	c.638C>T	c.(637-639)tCc>tTc	p.S213F	C11orf48_ENST00000525675.1_5'Flank|RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000524958.1_5'Flank|C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000431002.2_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000532208.1_Intron|SNORA57_ENST00000383870.1_RNA	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	213						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GAACAAGGGTCCTATGGCTGG	0.502																																																	0													74.0	73.0	73.0					11																	62434438		1915	4133	6048	SO:0001583	missense	751071			BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.638C>T	11.37:g.62434438C>T	ENSP00000431287:p.Ser213Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4C1	Missense_Mutation	SNP	pfam_Methyltransf_11	p.S213F	ENST00000532971.1	37	c.638	CCDS41657.1	11	.	.	.	.	.	.	.	.	.	.	C	0.599	-0.829883	0.02734	.	.	ENSG00000214756	ENST00000532971	T	0.46063	0.88	4.65	2.72	0.32119	.	0.627698	0.12952	N	0.425758	T	0.23492	0.0568	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.17018	-1.0383	10	0.54805	T	0.06	-5.3286	6.4657	0.21980	0.0:0.7172:0.1833:0.0995	.	213	A8MUP2	MTL12_HUMAN	F	213	ENSP00000431287:S213F	ENSP00000431287:S213F	S	+	2	0	METTL12	62191014	0.000000	0.05858	0.004000	0.12327	0.432000	0.31715	0.118000	0.15605	0.657000	0.30906	0.561000	0.74099	TCC	METTL12	-	NULL		0.502	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL12	HGNC	protein_coding	OTTHUMT00000394990.1	C	NM_001043229		62434438	+1	no_errors	ENST00000532971	ensembl	human	known	70_37	missense	SNP	0.007	T
METTL16	79066	genome.wustl.edu	37	17	2381091	2381091	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:2381091C>G	ENST00000263092.6	-	3	344	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	METTL16_ENST00000538844.1_5'UTR|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	73							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						ATTAGTCTCTCCAATGGAATA	0.428																																																	0													143.0	138.0	140.0					17																	2381091		1839	4087	5926	SO:0001583	missense	79066			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.217G>C	17.37:g.2381091C>G	ENSP00000263092:p.Glu73Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D	p.E73Q	ENST00000263092.6	37	c.217	CCDS42232.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.090151	0.94149	.	.	ENSG00000127804	ENST00000263092;ENST00000399834	T	0.17854	2.25	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.23094	0.0558	N	0.04746	-0.17	0.80722	D	1	B;D	0.69078	0.431;0.997	B;D	0.70227	0.144;0.968	T	0.24440	-1.0160	10	0.42905	T	0.14	-13.8636	18.1377	0.89624	0.0:1.0:0.0:0.0	.	73;73	Q86W50-2;Q86W50	.;MET16_HUMAN	Q	73	ENSP00000263092:E73Q	ENSP00000263092:E73Q	E	-	1	0	METTL16	2327841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.695000	0.84257	2.890000	0.99128	0.650000	0.86243	GAG	METTL16	-	pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D		0.428	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL16	HGNC	protein_coding	OTTHUMT00000437653.2	C	NM_024086		2381091	-1	no_errors	ENST00000263092	ensembl	human	known	70_37	missense	SNP	1.000	G
MFAP1	4236	genome.wustl.edu	37	15	44097317	44097317	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:44097317G>C	ENST00000267812.3	-	9	1527	c.1295C>G	c.(1294-1296)tCt>tGt	p.S432C		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	432					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CTTCTTGGCAGATGGCCGCTC	0.488																																																	0													131.0	127.0	128.0					15																	44097317		2198	4298	6496	SO:0001583	missense	4236				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.1295C>G	15.37:g.44097317G>C	ENSP00000267812:p.Ser432Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86TG6	Missense_Mutation	SNP	pfam_MFAP1_C	p.S432C	ENST00000267812.3	37	c.1295	CCDS10105.1	15	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727104	0.89390	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.29	5.29	0.74685	.	0.052899	0.64402	D	0.000001	D	0.83004	0.5160	M	0.81239	2.535	0.54753	D	0.999985	D	0.89917	1.0	D	0.72982	0.979	D	0.84908	0.0846	9	0.87932	D	0	-7.1084	18.7415	0.91774	0.0:0.0:1.0:0.0	.	432	P55081	MFAP1_HUMAN	C	432	.	ENSP00000267812:S432C	S	-	2	0	MFAP1	41884609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.227000	0.95236	2.764000	0.94973	0.650000	0.86243	TCT	MFAP1	-	pfam_MFAP1_C		0.488	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	HGNC	protein_coding	OTTHUMT00000133491.2	G	NM_005926		44097317	-1	no_errors	ENST00000267812	ensembl	human	known	70_37	missense	SNP	1.000	C
MFSD2A	84879	genome.wustl.edu	37	1	40433396	40433396	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:40433396G>A	ENST00000372809.5	+	10	1277				MFSD2A_ENST00000420632.2_Intron|MFSD2A_ENST00000372811.5_Intron|MFSD2A_ENST00000480630.1_Intron	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A						establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GAGTGGGGTTGAAGAGCAGAG	0.532																																																	0													111.0	96.0	101.0					1																	40433396		2203	4300	6503	SO:0001627	intron_variant	84879			AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.1134+13G>A	1.37:g.40433396G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K675|Q6UWU5|Q96F59|Q9BRC8	RNA	SNP	-	NULL	ENST00000372809.5	37	NULL	CCDS44118.1	1																																																																																			MFSD2A	-	-		0.532	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	MFSD2A	HGNC	protein_coding	OTTHUMT00000025756.1	G	NM_032793		40433396	+1	no_errors	ENST00000459917	ensembl	human	known	70_37	rna	SNP	0.000	A
MGA	23269	genome.wustl.edu	37	15	41988923	41988923	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:41988923C>T	ENST00000570161.1	+	2	1715	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L	MGA_ENST00000219905.7_Missense_Mutation_p.S572L|MGA_ENST00000545763.1_Missense_Mutation_p.S572L|MGA_ENST00000566586.1_Missense_Mutation_p.S572L|MGA_ENST00000389936.4_Missense_Mutation_p.S572L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCAAAGGATTCAGTTGGAGAC	0.403																																																	0													52.0	47.0	49.0					15																	41988923		1884	4114	5998	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1715C>T	15.37:g.41988923C>T	ENSP00000457035:p.Ser572Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.S572L	ENST00000570161.1	37	c.1715	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	7.107	0.575277	0.13623	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84370	-1.8;-1.84;-1.82	5.44	2.08	0.27032	.	3.419210	0.00531	N	0.000213	T	0.77658	0.4163	N	0.19112	0.55	0.09310	N	1	B;B	0.30824	0.291;0.296	B;B	0.31337	0.128;0.06	T	0.66716	-0.5853	10	0.52906	T	0.07	.	7.2457	0.26121	0.1244:0.6461:0.0:0.2295	.	572;572	F5H7K2;E7ENI0	.;.	L	572	ENSP00000219905:S572L;ENSP00000374586:S572L;ENSP00000442467:S572L	ENSP00000219905:S572L	S	+	2	0	MGA	39776215	0.428000	0.25522	0.097000	0.21041	0.033000	0.12548	1.862000	0.39448	0.670000	0.31165	0.462000	0.41574	TCA	MGA	-	NULL		0.403	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	C	NM_001164273.1		41988923	+1	no_errors	ENST00000219905	ensembl	human	known	70_37	missense	SNP	0.002	T
GLIDR	389741	genome.wustl.edu	37	9	66553844	66553844	+	lincRNA	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:66553844C>T	ENST00000305709.5	+	0	457				RP11-262H14.3_ENST00000445604.2_lincRNA	NR_015363.1																						GTGCAGACCTCCATGTTGCTC	0.632																																																	0																																												0																															9.37:g.66553844C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000305709.5	37	NULL		9																																																																																			RP11-262H14.4	-	-		0.632	RP11-262H14.4-001	KNOWN	basic	lincRNA	MGC21881	Clone_based_vega_gene	lincRNA	OTTHUMT00000037077.1	C			66553844	+1	no_errors	ENST00000305709	ensembl	human	known	70_37	rna	SNP	0.096	T
MICAL3	57553	genome.wustl.edu	37	22	18378151	18378151	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:18378151G>A	ENST00000441493.2	-	10	1700	c.1348C>T	c.(1348-1350)Cag>Tag	p.Q450*	MICAL3_ENST00000400561.2_Nonsense_Mutation_p.Q450*|MICAL3_ENST00000444520.1_Nonsense_Mutation_p.Q450*|MICAL3_ENST00000585038.1_Nonsense_Mutation_p.Q450*|MICAL3_ENST00000207726.7_Nonsense_Mutation_p.Q450*|MICAL3_ENST00000383094.3_Nonsense_Mutation_p.Q450*|MICAL3_ENST00000429452.1_Nonsense_Mutation_p.Q450*|MICAL3_ENST00000414725.2_Nonsense_Mutation_p.Q450*	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	450	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGGGTGGTCTGAGGCAGCAAC	0.473																																																	0													160.0	130.0	139.0					22																	18378151		1568	3582	5150	SO:0001587	stop_gained	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.1348C>T	22.37:g.18378151G>A	ENSP00000416015:p.Gln450*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Nonsense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.Q450*	ENST00000441493.2	37	c.1348	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	G	44	11.106270	0.99516	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	.	.	.	X	450	.	ENSP00000207726:Q450X	Q	-	1	0	XXbac-B461K10.4;MICAL3	16758151	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.826000	0.99387	2.778000	0.95560	0.655000	0.94253	CAG	MICAL3	-	superfamily_CH-domain		0.473	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	G			18378151	-1	no_errors	ENST00000441493	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MICAL3	57553	genome.wustl.edu	37	22	18379666	18379666	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:18379666C>G	ENST00000441493.2	-	8	1382	c.1030G>C	c.(1030-1032)Gac>Cac	p.D344H	MICAL3_ENST00000400561.2_Missense_Mutation_p.D344H|MICAL3_ENST00000444520.1_Missense_Mutation_p.D344H|MICAL3_ENST00000585038.1_Missense_Mutation_p.D344H|MICAL3_ENST00000207726.7_Missense_Mutation_p.D344H|MICAL3_ENST00000383094.3_Missense_Mutation_p.D344H|MICAL3_ENST00000429452.1_Missense_Mutation_p.D344H|MICAL3_ENST00000414725.2_Missense_Mutation_p.D344H	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	344	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GTAGAGAAGTCTGCCGCCTCC	0.557											OREG0026285	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													58.0	57.0	57.0					22																	18379666		1568	3582	5150	SO:0001583	missense	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.1030G>C	22.37:g.18379666C>G	ENSP00000416015:p.Asp344His	Somatic	725	WXS	Illumina HiSeq	Phase_IV	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.D344H	ENST00000441493.2	37	c.1030	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462804	0.84425	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77	5.85	5.85	0.93711	.	0.103697	0.64402	D	0.000001	T	0.34629	0.0904	M	0.83012	2.62	0.51233	D	0.999913	D;P;D;D	0.89917	0.994;0.506;0.998;1.0	P;B;D;D	0.68765	0.785;0.378;0.96;0.946	T	0.04440	-1.0951	10	0.62326	D	0.03	.	13.3747	0.60732	0.0:0.9283:0.0:0.0717	.	344;344;344;344	B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;MICA3_HUMAN	H	344	ENSP00000416015:D344H;ENSP00000414846:D344H;ENSP00000383406:D344H;ENSP00000410315:D344H;ENSP00000391827:D344H;ENSP00000372574:D344H;ENSP00000207726:D344H	ENSP00000207726:D344H	D	-	1	0	XXbac-B461K10.4;MICAL3	16759666	0.999000	0.42202	0.966000	0.40874	0.969000	0.65631	4.084000	0.57650	2.773000	0.95371	0.585000	0.79938	GAC	MICAL3	-	NULL		0.557	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	C			18379666	-1	no_errors	ENST00000441493	ensembl	human	known	70_37	missense	SNP	1.000	G
MID1IP1	58526	genome.wustl.edu	37	X	38664284	38664284	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:38664284G>A	ENST00000336949.6	+	2	1030	c.85G>A	c.(85-87)Gac>Aac	p.D29N	MID1IP1-AS1_ENST00000436893.1_RNA|MID1IP1_ENST00000457894.1_Missense_Mutation_p.D29N|MID1IP1_ENST00000378474.3_Missense_Mutation_p.D29N	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	29					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						GAACAACATGGACCAGACGGT	0.612																																																	0													105.0	70.0	82.0					X																	38664284		2202	4300	6502	SO:0001583	missense	58526				CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"""gastrulation specific G12 homolog (zebrafish)"""		"""MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"""				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.85G>A	X.37:g.38664284G>A	ENSP00000338706:p.Asp29Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWB2	Missense_Mutation	SNP	pfam_Spot_14	p.D29N	ENST00000336949.6	37	c.85	CCDS14249.1	X	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380117	0.82682	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.57	4.57	0.56435	.	0.113796	0.56097	D	0.000022	T	0.77974	0.4211	M	0.80616	2.505	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.80795	-0.1223	9	0.87932	D	0	0.8389	10.8769	0.46917	0.0944:0.0:0.9056:0.0	.	29	Q9NPA3	M1IP1_HUMAN	N	29	.	ENSP00000338706:D29N	D	+	1	0	MID1IP1	38549228	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.054000	0.93866	2.116000	0.64780	0.529000	0.55759	GAC	MID1IP1	-	pfam_Spot_14		0.612	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MID1IP1	HGNC	protein_coding	OTTHUMT00000060655.1	G			38664284	+1	no_errors	ENST00000336949	ensembl	human	known	70_37	missense	SNP	1.000	A
MIIP	60672	genome.wustl.edu	37	1	12089808	12089808	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:12089808C>T	ENST00000235332.4	+	7	884				MIIP_ENST00000436478.2_Intron|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein											autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TGTGGCTTCTCATGGGCCTCG	0.672																																																	0													39.0	40.0	39.0					1																	12089808		2203	4300	6503	SO:0001627	intron_variant	60672			AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.716-14C>T	1.37:g.12089808C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C0KL22|Q96HU6|Q9H839|Q9HA00	RNA	SNP	-	NULL	ENST00000235332.4	37	NULL	CCDS143.1	1																																																																																			MIIP	-	-		0.672	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIIP	HGNC	protein_coding	OTTHUMT00000006941.1	C	NM_021933		12089808	+1	no_errors	ENST00000466860	ensembl	human	known	70_37	rna	SNP	0.000	T
MINOS1	440574	genome.wustl.edu	37	1	19923511	19923511	+	5'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:19923511G>A	ENST00000322753.6	+	0	28				MINOS1-NBL1_ENST00000602662.1_5'UTR|RP5-1056L3.1_ENST00000416470.1_RNA|MINOS1_ENST00000486890.1_3'UTR	NM_001032363.3|NM_001204082.1|NM_001204083.1	NP_001027535.1|NP_001191011.1|NP_001191012.1	Q5TGZ0	MIC10_HUMAN	mitochondrial inner membrane organizing system 1							integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)											GGCCGGCCGAGAGGAAAGCTG	0.642																																																	0													38.0	43.0	41.0					1																	19923511		2203	4300	6503	SO:0001623	5_prime_UTR_variant	440574			AK094318	CCDS30620.1, CCDS72719.1	1p36.13	2013-10-11	2011-10-04	2011-10-04	ENSG00000173436	ENSG00000173436			32068	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 151"""	C1orf151		21944719	Standard	NM_001032363		Approved	RP5-1056L3.2, FLJ36999, MIO10	uc021ohu.1	Q5TGZ0	OTTHUMG00000002712	ENST00000322753.6:c.-29G>A	1.37:g.19923511G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96G68	RNA	SNP	-	NULL	ENST00000322753.6	37	NULL	CCDS30620.1	1																																																																																			MINOS1	-	-		0.642	MINOS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MINOS1	HGNC	protein_coding	OTTHUMT00000007697.2	G	NM_001032363		19923511	+1	no_errors	ENST00000462646	ensembl	human	known	70_37	rna	SNP	0.000	A
N4BP2L2	10443	genome.wustl.edu	37	13	33070650	33070650	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:33070650G>A	ENST00000504114.1	-	5	457				N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000446957.2_Intron			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2						negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CAGCATTCCTGAGGAATAAAC	0.393																																																	0																																										SO:0001627	intron_variant	100462953			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.365+21343C>T	13.37:g.33070650G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A3KME8	RNA	SNP	-	NULL	ENST00000504114.1	37	NULL		13																																																																																			MINOS1P1	-	-		0.393	N4BP2L2-004	PUTATIVE	basic	protein_coding	MINOS1P1	HGNC	protein_coding	OTTHUMT00000361380.1	G	NM_014887		33070650	-1	no_errors	ENST00000450112	ensembl	human	known	70_37	rna	SNP	0.284	A
MIR124-3	406909	genome.wustl.edu	37	20	61809863	61809863	+	lincRNA	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:61809863C>T	ENST00000423020.1	-	0	188				MIR124-3_ENST00000384866.1_RNA																							GAGGGCCCCTCTGCGTGTTCA	0.662																																																	0													20.0	25.0	23.0					20																	61809863		1567	3582	5149			406909																															20.37:g.61809863C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000423020.1	37	NULL		20																																																																																			MIR124-3	-	-		0.662	RP5-963E22.4-001	KNOWN	basic|exp_conf	lincRNA	MIR124-3	HGNC	lincRNA	OTTHUMT00000276288.1	C			61809863	+1	no_errors	ENST00000384866	ensembl	human	known	70_37	rna	SNP	1.000	T
MIR202	574448	genome.wustl.edu	37	10	135061019	135061019	+	RNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:135061019G>A	ENST00000300167.6	-	0	243				MIR202_ENST00000553459.1_RNA|MIR202_ENST00000362219.2_RNA					microRNA 202																		AGGTGCCGCTGGGGAGGACCC	0.622																																																	0													22.0	37.0	32.0					10																	135061019		1366	3095	4461			574448					10q26.3	2011-09-12		2008-12-18	ENSG00000199089	ENSG00000278352		"""ncRNAs / Micro RNAs"""	32080	non-coding RNA	RNA, micro				MIRN202			Standard	NR_030170		Approved	hsa-mir-202	uc009ybh.2				10.37:g.135061019G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000300167.6	37	NULL		10																																																																																			MIR202	-	-		0.622	MIR202-001	KNOWN	basic|exp_conf	antisense	MIR202	HGNC	antisense	OTTHUMT00000409806.1	G	NR_030170		135061019	-1	no_errors	ENST00000362219	ensembl	human	known	70_37	rna	SNP	0.000	A
MIR377	494326	genome.wustl.edu	37	14	101528409	101528409	+	RNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:101528409G>A	ENST00000362145.2	+	0	67				MIR541_ENST00000401360.1_RNA|MIR496_ENST00000385226.1_RNA|MIR154_ENST00000385243.1_RNA	NR_029869.1				microRNA 377																		TGCCCTTGGTGAATTCGCTTT	0.527																																																	0													191.0	166.0	173.0					14																	101528409		1568	3582	5150			494326					14q32.31	2011-09-12		2008-12-18	ENSG00000199015	ENSG00000199015		"""ncRNAs / Micro RNAs"""	31870	non-coding RNA	RNA, micro				MIRN377			Standard	NR_029869		Approved	hsa-mir-377	uc010awh.1				14.37:g.101528409G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000362145.2	37	NULL		14																																																																																			MIR377	-	-		0.527	MIR377-201	KNOWN	basic	miRNA	MIR377	HGNC	miRNA		G	NR_029869		101528409	+1	no_errors	ENST00000362145	ensembl	human	known	70_37	rna	SNP	1.000	A
RP11-24M17.4	0	genome.wustl.edu	37	15	76054601	76054601	+	RNA	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:76054601C>T	ENST00000569596.1	+	0	169				MIR4313_ENST00000580760.1_lincRNA																							AGCCCAGCATCTCCTCATCCT	0.627																																																	0																																												100423035																															15.37:g.76054601C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000569596.1	37	NULL		15																																																																																			MIR4313	-	-		0.627	RP11-24M17.4-002	KNOWN	basic	lincRNA	MIR4313	HGNC	processed_transcript	OTTHUMT00000420499.1	C			76054601	-1	no_errors	ENST00000561777	ensembl	human	known	70_37	rna	SNP	0.059	T
CLCN5	1184	genome.wustl.edu	37	X	49775347	49775347	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:49775347C>T	ENST00000376088.3	+	4	657				CLCN5_ENST00000482218.2_Intron|MIR501_ENST00000390204.1_RNA|MIR500B_ENST00000458843.1_RNA|MIR500A_ENST00000385051.1_RNA|MIR660_ENST00000385235.1_RNA|CLCN5_ENST00000376091.3_Intron|MIR362_ENST00000385280.1_RNA	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5						chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GGCAAGGATTCTGCAAGGGGG	0.498																																																	0																																										SO:0001627	intron_variant	100422911			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000376088.3:c.17-31578C>T	X.37:g.49775347C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L475|B3KPN6|Q5JQD5|Q7RTN8	RNA	SNP	-	NULL	ENST00000376088.3	37	NULL	CCDS48115.1	X																																																																																			MIR500B	-	-		0.498	CLCN5-001	KNOWN	basic|CCDS	protein_coding	MIR500B	HGNC	protein_coding	OTTHUMT00000056542.2	C			49775347	+1	no_errors	ENST00000458843	ensembl	human	known	70_37	rna	SNP	0.215	T
ZNF141	7700	genome.wustl.edu	37	4	343955	343955	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:343955G>C	ENST00000240499.7	+	3	375				ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron|MIR571_ENST00000384910.1_RNA	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141						anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						tcctcagtaagaccaagctca	0.483																																																	0													151.0	132.0	138.0					4																	343955		1568	3582	5150	SO:0001627	intron_variant	693156			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.226+5736G>C	4.37:g.343955G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6DK07	RNA	SNP	-	NULL	ENST00000240499.7	37	NULL	CCDS33931.1	4																																																																																			MIR571	-	-		0.483	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR571	HGNC	protein_coding	OTTHUMT00000357710.1	G	NM_003441		343955	+1	no_errors	ENST00000384910	ensembl	human	known	70_37	rna	SNP	0.026	C
NIFK	84365	genome.wustl.edu	37	2	122493260	122493260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:122493260C>A	ENST00000285814.4	-	2	244	c.172G>T	c.(172-174)Gaa>Taa	p.E58*		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		58	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						ATCTGGGTTTCGTCAAGTAGG	0.393																																																	0													114.0	109.0	111.0					2																	122493260		2203	4300	6503	SO:0001587	stop_gained	84365																														ENST00000285814.4:c.172G>T	2.37:g.122493260C>A	ENSP00000285814:p.Glu58*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K788|Q8TB66|Q96ED4	Nonsense_Mutation	SNP	pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E58*	ENST00000285814.4	37	c.172	CCDS2135.1	2	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831999	0.71258	.	.	ENSG00000155438	ENST00000285814;ENST00000409201	.	.	.	4.28	4.28	0.50868	.	0.043412	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-39.9511	12.5486	0.56214	0.0:1.0:0.0:0.0	.	.	.	.	X	58	.	ENSP00000285814:E58X	E	-	1	0	MKI67IP	122209730	1.000000	0.71417	0.800000	0.32199	0.015000	0.08874	6.058000	0.71126	2.093000	0.63338	0.561000	0.74099	GAA	MKI67IP	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.393	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKI67IP	HGNC	protein_coding	OTTHUMT00000254239.2	C			122493260	-1	no_errors	ENST00000285814	ensembl	human	known	70_37	nonsense	SNP	0.999	A
MKNK2	2872	genome.wustl.edu	37	19	2042432	2042432	+	Silent	SNP	G	G	C	rs368301670	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:2042432G>C	ENST00000591601.1	-	9	779	c.744C>G	c.(742-744)ctC>ctG	p.L248L	MKNK2_ENST00000591142.1_5'Flank|MKNK2_ENST00000250896.3_Silent_p.L248L|MKNK2_ENST00000309340.7_Silent_p.L248L|MKNK2_ENST00000591588.1_5'Flank|MKNK2_ENST00000588014.1_5'UTR|MKNK2_ENST00000541165.1_Silent_p.L117L			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACCGGAGTGAGCAGCTCCG	0.697																																																	0													9.0	10.0	10.0					19																	2042432		2171	4272	6443	SO:0001819	synonymous_variant	2872			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.744C>G	19.37:g.2042432G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L248	ENST00000591601.1	37	c.744	CCDS12080.1	19																																																																																			MKNK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.697	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK2	HGNC	protein_coding	OTTHUMT00000449312.1	G	NM_199054		2042432	-1	no_errors	ENST00000250896	ensembl	human	known	70_37	silent	SNP	0.998	C
MKNK2	2872	genome.wustl.edu	37	19	2042450	2042450	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:2042450G>C	ENST00000591601.1	-	9	761	c.726C>G	c.(724-726)atC>atG	p.I242M	MKNK2_ENST00000591142.1_5'Flank|MKNK2_ENST00000250896.3_Missense_Mutation_p.I242M|MKNK2_ENST00000309340.7_Missense_Mutation_p.I242M|MKNK2_ENST00000591588.1_5'Flank|MKNK2_ENST00000588014.1_De_novo_Start_InFrame|MKNK2_ENST00000541165.1_Missense_Mutation_p.I111M			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGGTGGAGATAGGGGAGC	0.677																																																	0													14.0	14.0	14.0					19																	2042450		2187	4289	6476	SO:0001583	missense	2872			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.726C>G	19.37:g.2042450G>C	ENSP00000467811:p.Ile242Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I242M	ENST00000591601.1	37	c.726	CCDS12080.1	19	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986790	0.53934	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000541165;ENST00000545627	T;T;T	0.65549	-0.16;-0.16;-0.16	3.98	2.93	0.34026	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054171	0.64402	D	0.000001	T	0.67249	0.2873	L	0.37750	1.13	0.58432	D	0.999992	D;P	0.60575	0.988;0.575	D;B	0.69479	0.964;0.312	T	0.68439	-0.5408	10	0.72032	D	0.01	-12.9573	10.7901	0.46428	0.0943:0.0:0.9057:0.0	.	242;242	Q9HBH9;Q9HBH9-2	MKNK2_HUMAN;.	M	242;242;111;182	ENSP00000309485:I242M;ENSP00000250896:I242M;ENSP00000438904:I111M	ENSP00000250896:I242M	I	-	3	3	MKNK2	1993450	0.990000	0.36364	1.000000	0.80357	0.827000	0.46813	0.743000	0.26231	0.887000	0.36136	0.555000	0.69702	ATC	MKNK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.677	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK2	HGNC	protein_coding	OTTHUMT00000449312.1	G	NM_199054		2042450	-1	no_errors	ENST00000250896	ensembl	human	known	70_37	missense	SNP	1.000	C
MKX	283078	genome.wustl.edu	37	10	28023530	28023530	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:28023530C>T	ENST00000375790.5	-	5	1125	c.693G>A	c.(691-693)ttG>ttA	p.L231L	MKX_ENST00000419761.1_Silent_p.L231L			Q8IYA7	MKX_HUMAN	mohawk homeobox	231					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TGACATGTCTCAAAGAGTCAT	0.478																																																	0													191.0	180.0	184.0					10																	28023530		2203	4300	6503	SO:0001819	synonymous_variant	283078			BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.693G>A	10.37:g.28023530C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWM5	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.L231	ENST00000375790.5	37	c.693	CCDS7156.1	10																																																																																			MKX	-	NULL		0.478	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKX	HGNC	protein_coding	OTTHUMT00000047332.3	C	NM_173576		28023530	-1	no_errors	ENST00000375790	ensembl	human	known	70_37	silent	SNP	1.000	T
MLIP	90523	genome.wustl.edu	37	6	54095557	54095557	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:54095557C>T	ENST00000274897.5	+	11	1272	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	MLIP_ENST00000370877.2_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000502396.1_Nonsense_Mutation_p.Q922*|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370876.2_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	387						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TCCTTTATATCAGACTAAACT	0.493																																																	0													312.0	292.0	299.0					6																	54095557		2203	4300	6503	SO:0001587	stop_gained	90523			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1159C>T	6.37:g.54095557C>T	ENSP00000274897:p.Gln387*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2N0|D6RE05|Q96H08|Q96NF7	Nonsense_Mutation	SNP	NULL	p.Q387*	ENST00000274897.5	37	c.1159	CCDS4954.1	6	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576660	0.86645	.	.	ENSG00000146147	ENST00000274897;ENST00000502396;ENST00000514433	.	.	.	5.41	4.45	0.53987	.	0.220414	0.29034	N	0.013350	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	12.1015	0.53788	0.1829:0.817:0.0:0.0	.	.	.	.	X	387;922;316	.	ENSP00000274897:Q387X	Q	+	1	0	MLIP	54203516	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.237000	0.43061	2.520000	0.84964	0.650000	0.86243	CAG	MLIP	-	NULL		0.493	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	C	NM_138569		54095557	+1	no_errors	ENST00000274897	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KMT2A	4297	genome.wustl.edu	37	11	118370615	118370615	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:118370615C>T	ENST00000389506.5	+	24	6136	c.6136C>T	c.(6136-6138)Cct>Tct	p.P2046S	KMT2A_ENST00000354520.4_Missense_Mutation_p.P2008S|KMT2A_ENST00000534358.1_Missense_Mutation_p.P2049S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2046	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TAAGCTCTTTCCTATTGGATA	0.423																																																	0													103.0	98.0	99.0					11																	118370615		2200	4296	6496	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6136C>T	11.37:g.118370615C>T	ENSP00000374157:p.Pro2046Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.P2046S	ENST00000389506.5	37	c.6136	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115466	0.77323	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.94537	-3.45;-3.45;-3.45	5.69	5.69	0.88448	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.85682	D	0.000000	D	0.97983	0.9336	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98503	1.0615	10	0.87932	D	0	.	19.812	0.96551	0.0:1.0:0.0:0.0	.	2049;2046	E9PQG7;Q03164	.;MLL1_HUMAN	S	2049;2046;2008;956	ENSP00000436786:P2049S;ENSP00000374157:P2046S;ENSP00000346516:P2008S	ENSP00000346516:P2008S	P	+	1	0	MLL	117875825	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.740000	0.84986	2.685000	0.91497	0.655000	0.94253	CCT	MLL	-	pfam_FYrich_N,smart_FYrich_N,pirsf_MeTrfase_trithorax		0.423	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	C	NM_005933		118370615	+1	no_errors	ENST00000389506	ensembl	human	known	70_37	missense	SNP	1.000	T
KMT2A	4297	genome.wustl.edu	37	11	118375583	118375583	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:118375583G>A	ENST00000389506.5	+	27	8967	c.8967G>A	c.(8965-8967)atG>atA	p.M2989I	KMT2A_ENST00000354520.4_Missense_Mutation_p.M2951I|KMT2A_ENST00000534358.1_Missense_Mutation_p.M2992I			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2989					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AAGGCCACATGACTCCTGATC	0.483																																																	0													90.0	78.0	82.0					11																	118375583		2200	4295	6495	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8967G>A	11.37:g.118375583G>A	ENSP00000374157:p.Met2989Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.M2989I	ENST00000389506.5	37	c.8967	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	8.852	0.944846	0.18356	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;T	0.81499	-1.5;-1.5;-1.46	6.17	6.17	0.99709	.	0.077532	0.85682	D	0.000000	T	0.71117	0.3302	L	0.36672	1.1	0.50632	D	0.999889	B;B	0.18863	0.031;0.031	B;B	0.10450	0.005;0.005	T	0.64351	-0.6428	10	0.34782	T	0.22	.	10.391	0.44168	0.0689:0.1354:0.7956:0.0	.	2992;2989	E9PQG7;Q03164	.;MLL1_HUMAN	I	2992;2989;2951;1899	ENSP00000436786:M2992I;ENSP00000374157:M2989I;ENSP00000346516:M2951I	ENSP00000346516:M2951I	M	+	3	0	MLL	117880793	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.184000	0.50926	2.941000	0.99782	0.655000	0.94253	ATG	MLL	-	pirsf_MeTrfase_trithorax		0.483	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	G	NM_005933		118375583	+1	no_errors	ENST00000389506	ensembl	human	known	70_37	missense	SNP	1.000	A
KMT2D	8085	genome.wustl.edu	37	12	49418679	49418679	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:49418679C>A	ENST00000301067.7	-	49	15834	c.15835G>T	c.(15835-15837)Gac>Tac	p.D5279Y		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5279	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CGCAGCATGTCAGCCTCTTTT	0.547																																																	0													19.0	20.0	20.0					12																	49418679		2073	4187	6260	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15835G>T	12.37:g.49418679C>A	ENSP00000301067:p.Asp5279Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D5279Y	ENST00000301067.7	37	c.15835	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467715	0.43839	.	.	ENSG00000167548	ENST00000301067	T	0.43294	0.95	5.38	5.38	0.77491	FY-rich, C-terminal (1);FY-rich, C-terminal subgroup (1);	0.000000	0.37304	N	0.002152	T	0.54046	0.1834	L	0.38175	1.15	0.37916	D	0.931547	D	0.67145	0.996	P	0.62014	0.897	T	0.59768	-0.7392	10	0.87932	D	0	.	18.2928	0.90136	0.0:1.0:0.0:0.0	.	5279	O14686	MLL2_HUMAN	Y	5279	ENSP00000301067:D5279Y	ENSP00000301067:D5279Y	D	-	1	0	MLL2	47704946	0.995000	0.38212	0.996000	0.52242	0.997000	0.91878	3.294000	0.51787	2.697000	0.92050	0.655000	0.94253	GAC	MLL2	-	pfam_FYrich_C,smart_FYrich_C		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49418679	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	0.998	A
KMT2C	58508	genome.wustl.edu	37	7	151860765	151860765	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:151860765C>T	ENST00000262189.6	-	43	10115	c.9897G>A	c.(9895-9897)atG>atA	p.M3299I	KMT2C_ENST00000355193.2_Missense_Mutation_p.M3299I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3299	Gln-rich.|Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGGTTGGCTCATGGTGGGTG	0.557																																																	0													153.0	126.0	135.0					7																	151860765		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9897G>A	7.37:g.151860765C>T	ENSP00000262189:p.Met3299Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.M3299I	ENST00000262189.6	37	c.9897	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.587|9.587	1.125240|1.125240	0.20959|0.20959	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193	.|D;D	.|0.83591	.|-1.74;-1.74	5.13|5.13	1.77|1.77	0.24775|0.24775	.|.	.|0.000000	.|0.56097	.|D	.|0.000028	T|T	0.76263|0.76263	0.3963|0.3963	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.16396	.|0.0;0.017;0.001	.|B;B;B	.|0.15052	.|0.002;0.012;0.001	T|T	0.68648|0.68648	-0.5353|-0.5353	5|10	.|0.40728	.|T	.|0.16	.|.	7.7018|7.7018	0.28627|0.28627	0.0:0.5908:0.2515:0.1577|0.0:0.5908:0.2515:0.1577	.|.	.|3299;2360;3299	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	K|I	805|3299	.|ENSP00000262189:M3299I;ENSP00000347325:M3299I	.|ENSP00000262189:M3299I	E|M	-|-	1|3	0|0	MLL3|MLL3	151491698|151491698	0.983000|0.983000	0.35010|0.35010	0.993000|0.993000	0.49108|0.49108	0.962000|0.962000	0.63368|0.63368	1.351000|1.351000	0.34022|0.34022	0.528000|0.528000	0.28580|0.28580	0.655000|0.655000	0.94253|0.94253	GAG|ATG	MLL3	-	NULL		0.557	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	C			151860765	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	1.000	T
KMT2B	9757	genome.wustl.edu	37	19	36229363	36229363	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:36229363G>C	ENST00000222270.7	+	37	8053	c.8053G>C	c.(8053-8055)Gag>Cag	p.E2685Q	KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000587101.1_5'Flank|KMT2B_ENST00000420124.1_Missense_Mutation_p.E2685Q	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2685	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCGTGGTGAGGAGCTCACCTA	0.597																																																	0													69.0	73.0	72.0					19																	36229363		2203	4300	6503	SO:0001583	missense	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.8053G>C	19.37:g.36229363G>C	ENSP00000222270:p.Glu2685Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.E2685Q	ENST00000222270.7	37	c.8053	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635123	0.67130	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.93859	-3.3;-3.3	5.42	5.42	0.78866	SET domain (3);	0.000000	0.45361	D	0.000367	D	0.98002	0.9342	H	0.97051	3.93	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99312	1.0904	10	0.87932	D	0	.	17.9826	0.89146	0.0:0.0:1.0:0.0	.	2685	Q9UMN6	MLL4_HUMAN	Q	2685	ENSP00000222270:E2685Q;ENSP00000398837:E2685Q	ENSP00000222270:E2685Q	E	+	1	0	AD000671.1	40921203	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.551000	0.86045	0.462000	0.41574	GAG	WBP7	-	pirsf_MeTrfase_trithorax,pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.597	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Uniprot_genename	protein_coding		G	NM_014727		36229363	+1	no_errors	ENST00000222270	ensembl	human	known	70_37	missense	SNP	1.000	C
MLLT4	4301	genome.wustl.edu	37	6	168272989	168272989	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:168272989G>A	ENST00000447894.2	+	4	510	c.510G>A	c.(508-510)aaG>aaA	p.K170K	MLLT4_ENST00000392112.1_Silent_p.K169K|MLLT4_ENST00000351017.4_Silent_p.K170K|MLLT4_ENST00000400822.3_Silent_p.K169K|MLLT4_ENST00000366806.2_Silent_p.K170K|MLLT4_ENST00000392108.3_Silent_p.K170K|MLLT4_ENST00000344191.4_Silent_p.K170K			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	170	Glu/Lys-rich.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		aggaaaaaaagaagagagaaa	0.398			T	MLL	AL																																			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													87.0	93.0	91.0					6																	168272989		2203	4299	6502	SO:0001819	synonymous_variant	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.510G>A	6.37:g.168272989G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.K170	ENST00000447894.2	37	c.510		6																																																																																			MLLT4	-	NULL		0.398	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	G	NM_005936		168272989	+1	no_errors	ENST00000366806	ensembl	human	known	70_37	silent	SNP	1.000	A
MLLT4	4301	genome.wustl.edu	37	6	168349156	168349156	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:168349156C>G	ENST00000447894.2	+	28	3808	c.3808C>G	c.(3808-3810)Cag>Gag	p.Q1270E	MLLT4_ENST00000392112.1_Missense_Mutation_p.Q1253E|MLLT4_ENST00000351017.4_Missense_Mutation_p.Q1277E|MLLT4_ENST00000400822.3_Missense_Mutation_p.Q1269E|MLLT4_ENST00000366806.2_Missense_Mutation_p.Q1270E|MLLT4_ENST00000392108.3_Missense_Mutation_p.Q1270E|MLLT4_ENST00000344191.4_Missense_Mutation_p.Q1270E			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1270					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TATTGCAATTCAGGTTAGAAA	0.408			T	MLL	AL																																			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													63.0	59.0	60.0					6																	168349156		2203	4300	6503	SO:0001583	missense	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3808C>G	6.37:g.168349156C>G	ENSP00000404595:p.Gln1270Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.Q1270E	ENST00000447894.2	37	c.3808		6	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125037	0.37533	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04454	3.83;3.73;3.83;3.83;3.62;3.73;3.73	5.52	5.52	0.82312	.	0.067302	0.64402	D	0.000010	T	0.03348	0.0097	L	0.44542	1.39	0.58432	D	0.999999	B;B;B;B	0.29481	0.245;0.048;0.003;0.001	B;B;B;B	0.27500	0.08;0.023;0.006;0.004	T	0.43556	-0.9384	10	0.46703	T	0.11	-2.7951	19.4413	0.94821	0.0:1.0:0.0:0.0	.	1270;1269;1270;1254	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	E	1270;1277;1270;1270;1253;1270;1269;1270	ENSP00000341118:Q1270E;ENSP00000252692:Q1277E;ENSP00000375956:Q1270E;ENSP00000355771:Q1270E;ENSP00000375960:Q1253E;ENSP00000383623:Q1269E;ENSP00000404595:Q1270E	ENSP00000345834:Q1270E	Q	+	1	0	MLLT4	168092005	1.000000	0.71417	0.953000	0.39169	0.272000	0.26649	6.304000	0.72800	2.577000	0.86979	0.655000	0.94253	CAG	MLLT4	-	NULL		0.408	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	C	NM_005936		168349156	+1	no_errors	ENST00000366806	ensembl	human	known	70_37	missense	SNP	0.998	G
MLPH	79083	genome.wustl.edu	37	2	238436082	238436082	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:238436082G>C	ENST00000264605.3	+	8	1237	c.943G>C	c.(943-945)Gat>Cat	p.D315H	MLPH_ENST00000410032.1_Intron|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.D315H|MLPH_ENST00000409373.1_Missense_Mutation_p.D275H|MLPH_ENST00000338530.4_Missense_Mutation_p.D315H	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	315					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)	p.D315N(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GGACACCTCTGATGAGGAAAG	0.557																																																	1	Substitution - Missense(1)	breast(1)											96.0	101.0	99.0					2																	238436082		2203	4300	6503	SO:0001583	missense	79083			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.943G>C	2.37:g.238436082G>C	ENSP00000264605:p.Asp315His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.D315H	ENST00000264605.3	37	c.943	CCDS2518.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.43|17.43	3.388493|3.388493	0.61956|0.61956	.|.	.|.	ENSG00000115648|ENSG00000115648	ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373|ENST00000415753	T;T;T;T|.	0.45276|.	1.83;1.81;1.26;0.9|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	1.416630|.	0.04384|.	N|.	0.361270|.	T|.	0.64170|.	0.2574|.	L|L	0.58810|0.58810	1.83|1.83	0.34400|0.34400	D|D	0.695143|0.695143	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.79784|.	0.984;0.988;0.985;0.986;0.993;0.99|.	T|.	0.72843|.	-0.4170|.	10|.	0.87932|.	D|.	0|.	-16.0617|-16.0617	13.1653|13.1653	0.59567|0.59567	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	315;199;315;275;315;315|.	B4DKW7;Q6UWC1;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36|.	.;.;.;.;.;MELPH_HUMAN|.	H|S	315;315;315;275|2	ENSP00000264605:D315H;ENSP00000414849:D315H;ENSP00000341845:D315H;ENSP00000386780:D275H|.	ENSP00000264605:D315H|.	D|X	+|+	1|2	0|2	MLPH|MLPH	238100821|238100821	0.973000|0.973000	0.33851|0.33851	0.065000|0.065000	0.19835|0.19835	0.059000|0.059000	0.15707|0.15707	4.406000|4.406000	0.59748|0.59748	2.163000|2.163000	0.67991|0.67991	0.561000|0.561000	0.74099|0.74099	GAT|TGA	MLPH	-	NULL		0.557	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLPH	HGNC	protein_coding	OTTHUMT00000257083.2	G	NM_024101		238436082	+1	no_errors	ENST00000264605	ensembl	human	known	70_37	missense	SNP	0.464	C
MMD2	221938	genome.wustl.edu	37	7	4959870	4959870	+	Silent	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:4959870G>T	ENST00000404774.3	-	3	416	c.222C>A	c.(220-222)ctC>ctA	p.L74L	MMD2_ENST00000401401.3_Silent_p.L74L|MMD2_ENST00000406755.1_Silent_p.L74L	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	74						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CGCAGAGGCCGAGGCCGTAGA	0.622																																																	0													44.0	50.0	48.0					7																	4959870		2061	4180	6241	SO:0001819	synonymous_variant	221938			BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.222C>A	7.37:g.4959870G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MBW4|Q6NVU5|Q6TCH0	Silent	SNP	pfam_HlyIII-related	p.L74	ENST00000404774.3	37	c.222	CCDS47529.1	7																																																																																			MMD2	-	pfam_HlyIII-related		0.622	MMD2-001	KNOWN	basic|CCDS	protein_coding	MMD2	HGNC	protein_coding	OTTHUMT00000324136.1	G	NM_198403		4959870	-1	no_errors	ENST00000404774	ensembl	human	known	70_37	silent	SNP	0.000	T
MLXIPL	51085	genome.wustl.edu	37	7	73008611	73008611	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:73008611G>C	ENST00000313375.3	-	16	2480	c.2433C>G	c.(2431-2433)ctC>ctG	p.L811L	MLXIPL_ENST00000429400.2_Silent_p.L792L|MLXIPL_ENST00000434326.1_Silent_p.L717L|MLXIPL_ENST00000395189.1_Silent_p.L718L|MLXIPL_ENST00000414749.2_Silent_p.L809L|MLXIPL_ENST00000354613.1_Silent_p.L790L	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	811					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TACTTGGCCGGAGAGCGGGCA	0.622																																																	0													83.0	75.0	78.0					7																	73008611		2203	4300	6503	SO:0001819	synonymous_variant	51085			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2433C>G	7.37:g.73008611G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.L811	ENST00000313375.3	37	c.2433	CCDS5553.1	7																																																																																			MLXIPL	-	NULL		0.622	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1	G	NM_032951		73008611	-1	no_errors	ENST00000313375	ensembl	human	known	70_37	silent	SNP	1.000	C
MMP19	4327	genome.wustl.edu	37	12	56230828	56230828	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:56230828C>G	ENST00000322569.4	-	9	1610	c.1519G>C	c.(1519-1521)Gaa>Caa	p.E507Q	MMP19_ENST00000394182.1_Missense_Mutation_p.E221Q|TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000548629.1_Missense_Mutation_p.E484Q|MMP19_ENST00000409200.3_3'UTR	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	507					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	AGTCAGTATTCAAACGTGGTT	0.527																																																	0													205.0	189.0	195.0					12																	56230828		2203	4300	6503	SO:0001583	missense	4327			X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.1519G>C	12.37:g.56230828C>G	ENSP00000313437:p.Glu507Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.E507Q	ENST00000322569.4	37	c.1519	CCDS8895.1	12	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475801	0.26511	.	.	ENSG00000123342	ENST00000394182;ENST00000322569;ENST00000548629	T;T;T	0.17854	4.43;2.42;2.25	3.46	2.46	0.29980	.	5.893500	0.00633	N	0.000487	T	0.10637	0.0260	N	0.08118	0	0.09310	N	1	P;P	0.46512	0.596;0.879	B;B	0.41174	0.189;0.349	T	0.19679	-1.0298	10	0.28530	T	0.3	.	7.3683	0.26787	0.2604:0.7396:0.0:0.0	.	507;221	Q99542;Q99542-3	MMP19_HUMAN;.	Q	221;507;484	ENSP00000377736:E221Q;ENSP00000313437:E507Q;ENSP00000446979:E484Q	ENSP00000313437:E507Q	E	-	1	0	MMP19	54517095	0.007000	0.16637	0.087000	0.20705	0.016000	0.09150	0.944000	0.29043	1.943000	0.56356	0.561000	0.74099	GAA	MMP19	-	NULL		0.527	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP19	HGNC	protein_coding	OTTHUMT00000408023.1	C	NM_002429		56230828	-1	no_errors	ENST00000322569	ensembl	human	known	70_37	missense	SNP	0.015	G
MMP19	4327	genome.wustl.edu	37	12	56233334	56233334	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:56233334G>C	ENST00000322569.4	-	5	803	c.712C>G	c.(712-714)Cgg>Ggg	p.R238G	MMP19_ENST00000547487.1_5'Flank|MMP19_ENST00000394182.1_5'Flank|MMP19_ENST00000548629.1_Missense_Mutation_p.R215G|MMP19_ENST00000409200.3_Intron	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	238					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	AAGTGGGGCCGGTAGCCCTCG	0.617																																																	0													58.0	51.0	54.0					12																	56233334		2203	4300	6503	SO:0001583	missense	4327			X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.712C>G	12.37:g.56233334G>C	ENSP00000313437:p.Arg238Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.R238G	ENST00000322569.4	37	c.712	CCDS8895.1	12	.	.	.	.	.	.	.	.	.	.	G	8.611	0.889031	0.17540	.	.	ENSG00000123342	ENST00000322569;ENST00000548629	T;T	0.21031	2.03;2.03	5.75	3.87	0.44632	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.567805	0.19712	N	0.107796	T	0.19287	0.0463	N	0.20881	0.62	0.80722	D	1	P	0.43024	0.798	P	0.45881	0.496	T	0.01635	-1.1307	10	0.45353	T	0.12	.	11.966	0.53035	0.0:0.0:0.5426:0.4574	.	238	Q99542	MMP19_HUMAN	G	238;215	ENSP00000313437:R238G;ENSP00000446979:R215G	ENSP00000313437:R238G	R	-	1	2	MMP19	54519601	0.995000	0.38212	0.943000	0.38184	0.023000	0.10783	2.405000	0.44548	0.736000	0.32559	0.511000	0.50034	CGG	MMP19	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom		0.617	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP19	HGNC	protein_coding	OTTHUMT00000408023.1	G	NM_002429		56233334	-1	no_errors	ENST00000322569	ensembl	human	known	70_37	missense	SNP	0.825	C
MMP26	56547	genome.wustl.edu	37	11	5012686	5012686	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:5012686C>G	ENST00000380390.1	+	5	771	c.555C>G	c.(553-555)gtC>gtG	p.V185V	MMP26_ENST00000300762.1_Silent_p.V185V			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	185					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CTGGAGTTGTCCATTTTGACA	0.483																																																	0													154.0	149.0	151.0					11																	5012686		2201	4298	6499	SO:0001819	synonymous_variant	56547			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.555C>G	11.37:g.5012686C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin	p.V185	ENST00000380390.1	37	c.555	CCDS7752.1	11																																																																																			MMP26	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo		0.483	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP26	HGNC	protein_coding	OTTHUMT00000142058.3	C	NM_021801		5012686	+1	no_errors	ENST00000300762	ensembl	human	known	70_37	silent	SNP	0.209	G
MMP20	9313	genome.wustl.edu	37	11	102464305	102464305	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:102464305C>G	ENST00000260228.2	-	8	1124	c.1112G>C	c.(1111-1113)aGa>aCa	p.R371T	MMP20_ENST00000544938.1_5'Flank	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	394					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	TTGGAATCCTCTTGTTATCCA	0.443																																																	0													88.0	82.0	84.0					11																	102464305		2203	4299	6502	SO:0001583	missense	9313			Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.1112G>C	11.37:g.102464305C>G	ENSP00000260228:p.Arg371Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUA8|Q9H3Q0	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.R371T	ENST00000260228.2	37	c.1112	CCDS8318.1	11	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889373	0.52014	.	.	ENSG00000137674	ENST00000260228	T	0.02345	4.33	5.06	5.06	0.68205	Hemopexin/matrixin (2);	0.188509	0.49916	D	0.000125	T	0.04907	0.0132	L	0.31120	0.905	0.46131	D	0.998886	B	0.33477	0.413	P	0.44921	0.464	T	0.47623	-0.9103	10	0.59425	D	0.04	.	11.4452	0.50118	0.0:0.9139:0.0:0.0861	.	371	O60882	MMP20_HUMAN	T	371	ENSP00000260228:R371T	ENSP00000260228:R371T	R	-	2	0	MMP20	101969515	0.990000	0.36364	0.998000	0.56505	0.875000	0.50365	1.106000	0.31098	2.630000	0.89119	0.650000	0.86243	AGA	MMP20	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom		0.443	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP20	HGNC	protein_coding	OTTHUMT00000398012.1	C			102464305	-1	no_errors	ENST00000260228	ensembl	human	known	70_37	missense	SNP	1.000	G
MMRN1	22915	genome.wustl.edu	37	4	90857754	90857754	+	Missense_Mutation	SNP	A	A	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:90857754A>T	ENST00000394980.1	+	7	3242	c.2923A>T	c.(2923-2925)Act>Tct	p.T975S	MMRN1_ENST00000508372.1_Missense_Mutation_p.T717S|MMRN1_ENST00000264790.2_Missense_Mutation_p.T975S|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	975					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCAAATAAAAACTCAAGCTGC	0.378																																																	0													51.0	54.0	53.0					4																	90857754		2203	4299	6502	SO:0001583	missense	22915			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2923A>T	4.37:g.90857754A>T	ENSP00000378431:p.Thr975Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q	p.T975S	ENST00000394980.1	37	c.2923	CCDS3635.1	4	.	.	.	.	.	.	.	.	.	.	A	16.46	3.130273	0.56721	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.66815	0.08;0.08;-0.23	5.1	5.1	0.69264	.	0.081889	0.56097	D	0.000040	T	0.56485	0.1988	L	0.59436	1.845	0.80722	D	1	P	0.46395	0.877	B	0.37731	0.257	T	0.63171	-0.6697	10	0.66056	D	0.02	.	5.7954	0.18383	0.791:0.0:0.209:0.0	.	975	Q13201	MMRN1_HUMAN	S	975;975;717	ENSP00000378431:T975S;ENSP00000264790:T975S;ENSP00000426461:T717S	ENSP00000264790:T975S	T	+	1	0	MMRN1	91076777	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	1.899000	0.39818	2.225000	0.72522	0.533000	0.62120	ACT	MMRN1	-	NULL		0.378	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	HGNC	protein_coding	OTTHUMT00000253546.2	A	NM_007351		90857754	+1	no_errors	ENST00000264790	ensembl	human	known	70_37	missense	SNP	1.000	T
MMRN1	22915	genome.wustl.edu	37	4	90857906	90857906	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:90857906G>C	ENST00000394980.1	+	7	3394	c.3075G>C	c.(3073-3075)ctG>ctC	p.L1025L	MMRN1_ENST00000508372.1_Silent_p.L767L|MMRN1_ENST00000264790.2_Silent_p.L1025L|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	1025					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.L1025L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CCACAGTCCTGATAGGCCGGA	0.348																																																	1	Substitution - coding silent(1)	lung(1)											53.0	57.0	56.0					4																	90857906		2109	4138	6247	SO:0001819	synonymous_variant	22915			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3075G>C	4.37:g.90857906G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q	p.L1025	ENST00000394980.1	37	c.3075	CCDS3635.1	4																																																																																			MMRN1	-	NULL		0.348	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	HGNC	protein_coding	OTTHUMT00000253546.2	G	NM_007351		90857906	+1	no_errors	ENST00000264790	ensembl	human	known	70_37	silent	SNP	0.000	C
MN1	4330	genome.wustl.edu	37	22	28193385	28193385	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:28193385C>T	ENST00000302326.4	-	1	4101	c.3147G>A	c.(3145-3147)gtG>gtA	p.V1049V		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1049					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AGCTCGTGCTCACCTCGTCCG	0.637			T	ETV6	"""AML, meningioma"""																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	0													57.0	64.0	62.0					22																	28193385		2136	4227	6363	SO:0001819	synonymous_variant	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3147G>A	22.37:g.28193385C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1V9	Silent	SNP	NULL	p.V1049	ENST00000302326.4	37	c.3147	CCDS42998.1	22																																																																																			MN1	-	NULL		0.637	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	C	NM_002430		28193385	-1	no_errors	ENST00000302326	ensembl	human	known	70_37	silent	SNP	1.000	T
MN1	4330	genome.wustl.edu	37	22	28193390	28193390	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:28193390C>T	ENST00000302326.4	-	1	4096	c.3142G>A	c.(3142-3144)Gag>Aag	p.E1048K		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1048					intramembranous ossification (GO:0001957)			p.E1048K(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GTGCTCACCTCGTCCGAGGCG	0.627			T	ETV6	"""AML, meningioma"""																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	1	Substitution - Missense(1)	skin(1)											58.0	65.0	63.0					22																	28193390		2131	4228	6359	SO:0001583	missense	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3142G>A	22.37:g.28193390C>T	ENSP00000304956:p.Glu1048Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1V9	Missense_Mutation	SNP	NULL	p.E1048K	ENST00000302326.4	37	c.3142	CCDS42998.1	22	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460996	0.63513	.	.	ENSG00000169184	ENST00000302326	T	0.49720	0.77	4.2	4.2	0.49525	.	0.066402	0.56097	D	0.000025	T	0.27731	0.0682	N	0.08118	0	0.39996	D	0.975105	P	0.50710	0.938	B	0.39840	0.311	T	0.18461	-1.0336	10	0.34782	T	0.22	-19.8683	15.3075	0.74004	0.0:1.0:0.0:0.0	.	1048	Q10571	MN1_HUMAN	K	1048	ENSP00000304956:E1048K	ENSP00000304956:E1048K	E	-	1	0	MN1	26523390	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.837000	0.75354	2.153000	0.67306	0.462000	0.41574	GAG	MN1	-	NULL		0.627	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	C	NM_002430		28193390	-1	no_errors	ENST00000302326	ensembl	human	known	70_37	missense	SNP	1.000	T
MN1	4330	genome.wustl.edu	37	22	28193687	28193687	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:28193687C>T	ENST00000302326.4	-	1	3799	c.2845G>A	c.(2845-2847)Gac>Aac	p.D949N		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	949					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGACCACTGTCCCTTTTTCTG	0.682			T	ETV6	"""AML, meningioma"""																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	0													10.0	13.0	12.0					22																	28193687		1969	4125	6094	SO:0001583	missense	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2845G>A	22.37:g.28193687C>T	ENSP00000304956:p.Asp949Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1V9	Missense_Mutation	SNP	NULL	p.D949N	ENST00000302326.4	37	c.2845	CCDS42998.1	22	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648268	0.87958	.	.	ENSG00000169184	ENST00000302326	T	0.62364	0.03	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.67239	0.2872	L	0.29908	0.895	0.50313	D	0.999861	D	0.89917	1.0	D	0.87578	0.998	T	0.63501	-0.6623	10	0.23302	T	0.38	-23.1582	15.0915	0.72198	0.0:1.0:0.0:0.0	.	949	Q10571	MN1_HUMAN	N	949	ENSP00000304956:D949N	ENSP00000304956:D949N	D	-	1	0	MN1	26523687	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.930000	0.63462	2.105000	0.64084	0.462000	0.41574	GAC	MN1	-	NULL		0.682	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	C	NM_002430		28193687	-1	no_errors	ENST00000302326	ensembl	human	known	70_37	missense	SNP	1.000	T
MN1	4330	genome.wustl.edu	37	22	28195777	28195777	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:28195777G>C	ENST00000302326.4	-	1	1709	c.755C>G	c.(754-756)tCc>tGc	p.S252C		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	252					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CTGCCCTTCGGAGTCAGAGGG	0.647			T	ETV6	"""AML, meningioma"""																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	0													10.0	11.0	11.0					22																	28195777		2006	4176	6182	SO:0001583	missense	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.755C>G	22.37:g.28195777G>C	ENSP00000304956:p.Ser252Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1V9	Missense_Mutation	SNP	NULL	p.S252C	ENST00000302326.4	37	c.755	CCDS42998.1	22	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635016	0.67130	.	.	ENSG00000169184	ENST00000302326	T	0.67171	-0.25	5.19	4.17	0.49024	.	0.913253	0.09459	N	0.799345	T	0.68504	0.3008	N	0.19112	0.55	0.42030	D	0.991027	D	0.67145	0.996	P	0.59288	0.855	T	0.66200	-0.5983	10	0.87932	D	0	-7.0086	13.339	0.60535	0.0763:0.0:0.9237:0.0	.	252	Q10571	MN1_HUMAN	C	252	ENSP00000304956:S252C	ENSP00000304956:S252C	S	-	2	0	MN1	26525777	1.000000	0.71417	0.985000	0.45067	0.986000	0.74619	5.370000	0.66144	1.323000	0.45263	0.561000	0.74099	TCC	MN1	-	NULL		0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	G	NM_002430		28195777	-1	no_errors	ENST00000302326	ensembl	human	known	70_37	missense	SNP	1.000	C
MOB3A	126308	genome.wustl.edu	37	19	2073318	2073318	+	3'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:2073318G>A	ENST00000357066.3	-	0	1109				MOB3A_ENST00000592143.1_5'UTR|MOB3A_ENST00000592280.1_3'UTR	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A							intracellular (GO:0005622)	metal ion binding (GO:0046872)										GAAGCGGGATGATGGTTCCAG	0.682																																																	0													26.0	36.0	33.0					19																	2073318		692	1591	2283	SO:0001624	3_prime_UTR_variant	126308			AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"""MOB kinase activators"""	29802	protein-coding gene	gene with protein product	"""MOB LAK"""		"""MOB1, Mps One Binder kinase activator-like 2A (yeast)"""	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.*76C>T	19.37:g.2073318G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTF1|O75249|Q8TF69	RNA	SNP	-	NULL	ENST00000357066.3	37	NULL	CCDS12081.1	19																																																																																			MOB3A	-	-		0.682	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB3A	HGNC	protein_coding	OTTHUMT00000450893.1	G	NM_130807		2073318	-1	no_errors	ENST00000592143	ensembl	human	known	70_37	rna	SNP	0.000	A
MOGAT2	80168	genome.wustl.edu	37	11	75439952	75439952	+	Missense_Mutation	SNP	C	C	G	rs562033079		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:75439952C>G	ENST00000198801.5	+	5	838	c.768C>G	c.(766-768)atC>atG	p.I256M	MOGAT2_ENST00000526712.1_Missense_Mutation_p.I174M	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	256					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TCATGGGCATCTCCCTCCCAC	0.527																																																	0													176.0	150.0	159.0					11																	75439952		2200	4293	6493	SO:0001583	missense	80168			AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.768C>G	11.37:g.75439952C>G	ENSP00000198801:p.Ile256Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	pfam_DAGAT	p.I256M	ENST00000198801.5	37	c.768	CCDS8240.1	11	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636180	0.47049	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.15952	2.38;2.38	6.03	1.07	0.20283	.	0.510473	0.23549	N	0.046989	T	0.35770	0.0943	M	0.87328	2.875	0.43708	D	0.996174	P	0.41498	0.752	P	0.55345	0.774	T	0.05989	-1.0852	10	0.72032	D	0.01	-10.707	5.9757	0.19377	0.0:0.5374:0.1208:0.3418	.	256	Q3SYC2	MOGT2_HUMAN	M	256;174	ENSP00000198801:I256M;ENSP00000436283:I174M	ENSP00000198801:I256M	I	+	3	3	MOGAT2	75117600	1.000000	0.71417	0.063000	0.19743	0.972000	0.66771	1.054000	0.30455	-0.041000	0.13558	-0.140000	0.14226	ATC	MOGAT2	-	pfam_DAGAT		0.527	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGAT2	HGNC	protein_coding	OTTHUMT00000383520.1	C	NM_025098		75439952	+1	no_errors	ENST00000198801	ensembl	human	known	70_37	missense	SNP	0.965	G
MORF4L1	10933	genome.wustl.edu	37	15	79187165	79187165	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:79187165G>A	ENST00000331268.5	+	12	1127	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	MORF4L1_ENST00000379535.4_Missense_Mutation_p.R294Q|MORF4L1_ENST00000426013.2_Missense_Mutation_p.R269Q|MORF4L1_ENST00000559345.1_Missense_Mutation_p.R181Q|MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000558502.1_Missense_Mutation_p.R181Q|MORF4L1_ENST00000558746.1_Missense_Mutation_p.R242Q	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	308	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Sufficient for interaction with PHF12.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)	p.R308Q(1)		breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TAAACAGTACGAATTGGAGCA	0.368																																																	1	Substitution - Missense(1)	lung(1)											132.0	120.0	124.0					15																	79187165		2196	4293	6489	SO:0001583	missense	10933			AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.923G>A	15.37:g.79187165G>A	ENSP00000331310:p.Arg308Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15	p.R308Q	ENST00000331268.5	37	c.923	CCDS10307.1	15	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542042	0.65198	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.09445	2.98;2.98;2.98	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.14743	0.0356	L	0.58583	1.82	0.80722	D	1	B;B	0.21606	0.058;0.057	B;B	0.19391	0.009;0.025	T	0.02668	-1.1126	10	0.37606	T	0.19	-21.0717	17.1926	0.86883	0.0:0.0:1.0:0.0	.	269;308	Q9UBU8-2;Q9UBU8	.;MO4L1_HUMAN	Q	294;269;308	ENSP00000368850:R294Q;ENSP00000408880:R269Q;ENSP00000331310:R308Q	ENSP00000331310:R308Q	R	+	2	0	MORF4L1	76974220	1.000000	0.71417	0.995000	0.50966	0.731000	0.41821	9.108000	0.94275	2.478000	0.83669	0.650000	0.86243	CGA	MORF4L1	-	pfam_MRG_dom,pirsf_EAF3/MRG15		0.368	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	MORF4L1	HGNC	protein_coding	OTTHUMT00000290131.4	G	NM_006791		79187165	+1	no_errors	ENST00000331268	ensembl	human	known	70_37	missense	SNP	1.000	A
MOV10	4343	genome.wustl.edu	37	1	113240659	113240659	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:113240659G>A	ENST00000413052.2	+	15	2632	c.2242G>A	c.(2242-2244)Gaa>Aaa	p.E748K	MOV10_ENST00000369644.1_Missense_Mutation_p.E692K|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000357443.2_Missense_Mutation_p.E748K|MOV10_ENST00000369645.1_Missense_Mutation_p.E748K|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	748					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GCTCTATTATGAAGGGGAGCT	0.607																																																	0													124.0	120.0	121.0					1																	113240659		2203	4300	6503	SO:0001583	missense	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2242G>A	1.37:g.113240659G>A	ENSP00000399797:p.Glu748Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	NULL	p.E748K	ENST00000413052.2	37	c.2242	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676744	0.67928	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.36	4.39	0.52855	.	0.662177	0.16330	N	0.219148	T	0.70378	0.3217	L	0.58583	1.82	0.80722	D	1	B	0.11235	0.004	B	0.25759	0.063	T	0.70385	-0.4886	10	0.49607	T	0.09	-0.1521	13.6006	0.62018	0.0:0.1552:0.8448:0.0	.	748	Q9HCE1	MOV10_HUMAN	K	748;748;692;748;686	ENSP00000399797:E748K;ENSP00000358659:E748K;ENSP00000358658:E692K;ENSP00000350028:E748K	ENSP00000350028:E748K	E	+	1	0	MOV10	113042182	1.000000	0.71417	0.160000	0.22671	0.857000	0.48899	4.087000	0.57671	2.532000	0.85374	0.556000	0.70494	GAA	MOV10	-	NULL		0.607	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	G	NM_020963		113240659	+1	no_errors	ENST00000357443	ensembl	human	known	70_37	missense	SNP	0.851	A
MPP2	4355	genome.wustl.edu	37	17	41955285	41955285	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:41955285C>G	ENST00000461854.1	-	14	1706	c.1621G>C	c.(1621-1623)Gac>Cac	p.D541H	MPP2_ENST00000523501.1_Missense_Mutation_p.D506H|MPP2_ENST00000377184.3_Missense_Mutation_p.D534H|MPP2_ENST00000518766.1_Missense_Mutation_p.D562H|MPP2_ENST00000536246.1_Missense_Mutation_p.D506H|MPP2_ENST00000520305.1_Missense_Mutation_p.D378H|MPP2_ENST00000269095.4_Missense_Mutation_p.D517H			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	541	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGGCAGAGGTCAAAGTAGTGC	0.632																																																	0													89.0	74.0	79.0					17																	41955285		2203	4300	6503	SO:0001583	missense	4355				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1621G>C	17.37:g.41955285C>G	ENSP00000428286:p.Asp541His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.D541H	ENST00000461854.1	37	c.1621		17	.	.	.	.	.	.	.	.	.	.	c	27.6	4.850607	0.91277	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.21	5.21	0.72293	.	.	.	.	.	T	0.60483	0.2272	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70421	-0.4876	9	0.87932	D	0	.	16.3255	0.82978	0.0:1.0:0.0:0.0	.	562;534	E7EV80;Q14168-3	.;.	H	534;517;541;378;506;506;562	ENSP00000366389:D534H;ENSP00000269095:D517H;ENSP00000428286:D541H;ENSP00000428136:D378H;ENSP00000430540:D506H;ENSP00000438012:D506H;ENSP00000428182:D562H	ENSP00000269095:D517H	D	-	1	0	MPP2	39310811	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.723000	0.84788	2.440000	0.82611	0.555000	0.69702	GAC	MPP2	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.632	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	MPP2	HGNC	protein_coding	OTTHUMT00000258388.2	C	NM_005374		41955285	-1	no_errors	ENST00000461854	ensembl	human	known	70_37	missense	SNP	1.000	G
MRAS	22808	genome.wustl.edu	37	3	138119446	138119446	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:138119446G>C	ENST00000289104.4	+	5	1165	c.518G>C	c.(517-519)aGa>aCa	p.R173T	MRAS_ENST00000464896.1_Missense_Mutation_p.R97T|MRAS_ENST00000474559.1_Missense_Mutation_p.R173T|MRAS_ENST00000423968.2_Missense_Mutation_p.R173T	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	173					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						GACCTCGTTAGAGTAATTAGG	0.532																																																	0													204.0	176.0	185.0					3																	138119446		2203	4300	6503	SO:0001583	missense	22808			AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.518G>C	3.37:g.138119446G>C	ENSP00000289104:p.Arg173Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIK0|Q86WX8	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R173T	ENST00000289104.4	37	c.518	CCDS3100.1	3	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637806	0.67130	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000494949;ENST00000464896;ENST00000474559	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.87458	0.6182	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.88789	0.3276	10	0.87932	D	0	.	16.5954	0.84795	0.0:0.0:1.0:0.0	.	173	O14807	RASM_HUMAN	T	173;173;97;97;173	ENSP00000289104:R173T;ENSP00000389682:R173T;ENSP00000417685:R97T;ENSP00000419582:R97T;ENSP00000418356:R173T	ENSP00000289104:R173T	R	+	2	0	MRAS	139602136	1.000000	0.71417	0.472000	0.27241	0.244000	0.25665	9.583000	0.98217	2.509000	0.84616	0.561000	0.74099	AGA	MRAS	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase		0.532	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRAS	HGNC	protein_coding	OTTHUMT00000357990.1	G			138119446	+1	no_errors	ENST00000289104	ensembl	human	known	70_37	missense	SNP	1.000	C
MRPL10	124995	genome.wustl.edu	37	17	45908804	45908804	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:45908804G>A	ENST00000351111.2	-	1	58				LRRC46_ENST00000269025.4_5'Flank|MRPL10_ENST00000414011.1_Intron|MRPL10_ENST00000290208.7_5'Flank	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10						ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GACACGCCGTGAGGACCTGGG	0.632											OREG0024501	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													22.0	26.0	25.0					17																	45908804		1869	3437	5306	SO:0001627	intron_variant	124995			AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.52+21C>T	17.37:g.45908804G>A		Somatic	935	WXS	Illumina HiSeq	Phase_IV	A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	NULL	p.S25L	ENST00000351111.2	37	c.74	CCDS11516.1	17																																																																																			MRPL10	-	NULL		0.632	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL10	HGNC	protein_coding	OTTHUMT00000343764.1	G	NM_145255		45908804	-1	no_errors	ENST00000421763	ensembl	human	known	70_37	missense	SNP	0.005	A
MRPL41	64975	genome.wustl.edu	37	9	140446917	140446917	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:140446917C>T	ENST00000371443.5	+	2	1172	c.384C>T	c.(382-384)ttC>ttT	p.F128F	DPH7_ENST00000479650.1_5'Flank|PNPLA7_ENST00000277531.4_5'Flank|PNPLA7_ENST00000406427.1_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	128					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		GAAAGCTCTTCCAGCTCTACC	0.577																																																	0													25.0	24.0	24.0					9																	140446917		2198	4284	6482	SO:0001819	synonymous_variant	64975			AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"""Mitochondrial ribosomal proteins / large subunits"""	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.384C>T	9.37:g.140446917C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96Q49	Silent	SNP	pfam_Ribosomal_L27/L41_mit	p.F128	ENST00000371443.5	37	c.384	CCDS7046.1	9																																																																																			MRPL41	-	NULL		0.577	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL41	HGNC	protein_coding	OTTHUMT00000055327.1	C	NM_032477		140446917	+1	no_errors	ENST00000371443	ensembl	human	known	70_37	silent	SNP	1.000	T
MRPL46	26589	genome.wustl.edu	37	15	89010588	89010588	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:89010588C>T	ENST00000312475.4	-	1	62	c.21G>A	c.(19-21)cgG>cgA	p.R7R	MRPL46_ENST00000559538.1_5'Flank|MRPS11_ENST00000353598.6_5'Flank|MRPS11_ENST00000325844.4_5'Flank	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	7						mitochondrion (GO:0005739)|ribosome (GO:0005840)	hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CTAACAGCGTCCGCCTTACGG	0.672																																																	0													10.0	13.0	12.0					15																	89010588		2177	4266	6443	SO:0001819	synonymous_variant	26589			AF210056	CCDS10341.1	15q25.3	2012-10-08	2001-12-10	2001-12-14	ENSG00000259494	ENSG00000259494		"""Mitochondrial ribosomal proteins / large subunits"""	1192	protein-coding gene	gene with protein product		611851	"""chromosome 15 open reading frame 4"""	C15orf4		11761714, 11551941	Standard	NM_022163		Approved	LIECG2, P2ECSL	uc002bmj.2	Q9H2W6	OTTHUMG00000148683	ENST00000312475.4:c.21G>A	15.37:g.89010588C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD75|Q9HBU8	Silent	SNP	pfam_Ribosomal_L46,superfamily_NUDIX_hydrolase_dom-like	p.R7	ENST00000312475.4	37	c.21	CCDS10341.1	15																																																																																			MRPL46	-	NULL		0.672	MRPL46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL46	HGNC	protein_coding	OTTHUMT00000309073.1	C	NM_022163		89010588	-1	no_errors	ENST00000312475	ensembl	human	known	70_37	silent	SNP	0.000	T
MRPL50	54534	genome.wustl.edu	37	9	104152783	104152783	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:104152783G>A	ENST00000374865.4	-	2	463	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	148						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				TTGGGGGGCAGATTACTGGCA	0.418																																																	0													71.0	72.0	72.0					9																	104152783		2201	4293	6494	SO:0001819	synonymous_variant	54534			AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.442C>T	9.37:g.104152783G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z358|Q5T7E0|Q9NX15	Silent	SNP	pfam_Ribosomal_L50_mt	p.L148	ENST00000374865.4	37	c.442	CCDS6753.1	9																																																																																			MRPL50	-	pfam_Ribosomal_L50_mt		0.418	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL50	HGNC	protein_coding	OTTHUMT00000053450.1	G	NM_019051		104152783	-1	no_errors	ENST00000374865	ensembl	human	known	70_37	silent	SNP	0.911	A
MRPS27	23107	genome.wustl.edu	37	5	71521910	71521910	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:71521910C>G	ENST00000261413.5	-	9	850	c.811G>C	c.(811-813)Gaa>Caa	p.E271Q	MRPS27_ENST00000513900.1_Missense_Mutation_p.E285Q|MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000457646.4_Missense_Mutation_p.E215Q	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	271						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		TTTATGTCTTCTGGGGAGGCA	0.473																																																	0													89.0	81.0	84.0					5																	71521910		2203	4300	6503	SO:0001583	missense	23107			D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.811G>C	5.37:g.71521910C>G	ENSP00000261413:p.Glu271Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRT2|Q6P1S1	Missense_Mutation	SNP	pfam_Ribosomal_S27_mit	p.E285Q	ENST00000261413.5	37	c.853	CCDS4013.1	5	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730372	0.69074	.	.	ENSG00000113048	ENST00000261413;ENST00000457646;ENST00000513900;ENST00000508863	T;T;T;T	0.49720	0.79;0.78;0.8;0.77	5.78	5.78	0.91487	.	0.317949	0.38605	N	0.001627	T	0.61185	0.2327	L	0.59436	1.845	0.80722	D	1	D;D;P	0.58970	0.959;0.984;0.891	P;P;P	0.57679	0.783;0.825;0.575	T	0.51787	-0.8661	10	0.21014	T	0.42	-2.3241	20.0203	0.97492	0.0:1.0:0.0:0.0	.	285;52;271	B4DRT2;E7ETN4;Q92552	.;.;RT27_HUMAN	Q	271;215;285;215	ENSP00000261413:E271Q;ENSP00000428120:E215Q;ENSP00000426941:E285Q;ENSP00000426176:E215Q	ENSP00000261413:E271Q	E	-	1	0	MRPS27	71557666	0.139000	0.22563	0.108000	0.21378	0.881000	0.50899	2.927000	0.48900	2.730000	0.93505	0.655000	0.94253	GAA	MRPS27	-	pfam_Ribosomal_S27_mit		0.473	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS27	HGNC	protein_coding	OTTHUMT00000218560.2	C	NM_015084		71521910	-1	no_errors	ENST00000513900	ensembl	human	known	70_37	missense	SNP	0.368	G
MRPS28	28957	genome.wustl.edu	37	8	80942405	80942405	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:80942405G>A	ENST00000276585.4	-	1	101	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	MRPS28_ENST00000521605.1_Missense_Mutation_p.R27W|MRPS28_ENST00000521434.1_5'Flank|TPD52_ENST00000537855.1_Intron|MRPS28_ENST00000522987.1_5'UTR|RP11-92K15.3_ENST00000607017.1_lincRNA	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	27						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			CCTACACCCCGAAAGGGCCTG	0.587																																																	0													39.0	42.0	41.0					8																	80942405		2203	4300	6503	SO:0001583	missense	28957			AB061209	CCDS6226.1	8q21.1-q21.2	2012-09-13			ENSG00000147586	ENSG00000147586		"""Mitochondrial ribosomal proteins / small subunits"""	14513	protein-coding gene	gene with protein product		611990				11279123, 11042152	Standard	NM_014018		Approved	MRP-S28, HSPC007, MRPS35	uc003ybp.3	Q9Y2Q9	OTTHUMG00000164642	ENST00000276585.4:c.79C>T	8.37:g.80942405G>A	ENSP00000276585:p.Arg27Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDZ7|Q96Q21	Missense_Mutation	SNP	pfam_Ribosomal_S28_mit,superfamily_NA-bd_OB-fold-like	p.R27W	ENST00000276585.4	37	c.79	CCDS6226.1	8	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318388	0.60524	.	.	ENSG00000147586	ENST00000276585;ENST00000521605	T	0.51071	0.72	5.38	3.53	0.40419	.	0.452064	0.17689	N	0.165321	T	0.51618	0.1685	L	0.32530	0.975	0.47949	D	0.999557	D	0.76494	0.999	P	0.61722	0.893	T	0.49143	-0.8970	10	0.59425	D	0.04	.	9.7929	0.40717	0.0:0.1526:0.6887:0.1586	.	27	Q9Y2Q9	RT28_HUMAN	W	27	ENSP00000276585:R27W	ENSP00000276585:R27W	R	-	1	2	MRPS28	81104960	0.014000	0.17966	0.356000	0.25785	0.537000	0.34900	0.475000	0.22164	0.785000	0.33685	0.655000	0.94253	CGG	MRPS28	-	NULL		0.587	MRPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS28	HGNC	protein_coding	OTTHUMT00000379526.1	G	NM_014018		80942405	-1	no_errors	ENST00000276585	ensembl	human	known	70_37	missense	SNP	0.489	A
MRVI1	10335	genome.wustl.edu	37	11	10628291	10628291	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:10628291C>G	ENST00000436272.1	-	11	1597	c.1519G>C	c.(1519-1521)Gag>Cag	p.E507Q	MRVI1_ENST00000547195.1_Missense_Mutation_p.E443Q|MRVI1_ENST00000531107.1_Missense_Mutation_p.E526Q|MRVI1_ENST00000423302.2_Missense_Mutation_p.E534Q|MRVI1_ENST00000534266.2_Missense_Mutation_p.E219Q|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000424001.1_Missense_Mutation_p.E219Q|MRVI1_ENST00000527509.2_Missense_Mutation_p.E443Q|MRVI1_ENST00000421747.1_Missense_Mutation_p.E525Q|MRVI1_ENST00000552103.1_Missense_Mutation_p.E443Q|MRVI1_ENST00000541483.1_Missense_Mutation_p.E328Q|MRVI1_ENST00000558540.1_Missense_Mutation_p.E219Q|MRVI1_ENST00000545852.1_Missense_Mutation_p.E219Q			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	507					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCACTTACCTCAACTTCCTTT	0.418																																																	0													76.0	77.0	76.0					11																	10628291		1938	4118	6056	SO:0001583	missense	10335			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1519G>C	11.37:g.10628291C>G	ENSP00000412229:p.Glu507Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	pfam_MRVI1	p.E525Q	ENST00000436272.1	37	c.1573		11	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980929	0.92982	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.999;0.998	T	0.58929	-0.7549	10	0.72032	D	0.01	-19.3482	19.3191	0.94231	0.0:1.0:0.0:0.0	.	328;507;526;525	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	Q	525;508;507;443;443;219;219;534;328;526;443	ENSP00000414598:E525Q;ENSP00000412229:E507Q;ENSP00000448278:E443Q;ENSP00000446764:E443Q;ENSP00000441971:E219Q;ENSP00000401205:E219Q;ENSP00000412130:E534Q;ENSP00000437784:E328Q;ENSP00000432436:E526Q;ENSP00000432067:E443Q	ENSP00000307885:E508Q	E	-	1	0	MRVI1	10584867	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.000000	0.76290	2.558000	0.86282	0.655000	0.94253	GAG	MRVI1	-	pfam_MRVI1		0.418	MRVI1-203	KNOWN	basic	protein_coding	MRVI1	HGNC	protein_coding		C	NM_001098579		10628291	-1	no_errors	ENST00000421747	ensembl	human	known	70_37	missense	SNP	1.000	G
MSH5	4439	genome.wustl.edu	37	6	31730269	31730269	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:31730269G>C	ENST00000375755.3	+	25	2752	c.2466G>C	c.(2464-2466)atG>atC	p.M822I	SAPCD1_ENST00000415669.2_5'Flank|MSH5-SAPCD1_ENST00000491552.1_3'UTR|MSH5_ENST00000431848.2_Missense_Mutation_p.M521I|SAPCD1-AS1_ENST00000419679.1_RNA|MSH5_ENST00000534153.4_Missense_Mutation_p.M839I|MSH5_ENST00000375750.3_Missense_Mutation_p.M822I|MSH5_ENST00000395853.1_Missense_Mutation_p.M496I|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.M839I|MSH5_ENST00000375742.3_Missense_Mutation_p.M839I|MSH5_ENST00000375740.3_Missense_Mutation_p.M810I|SAPCD1_ENST00000425424.1_5'Flank|MSH5_ENST00000375703.3_Missense_Mutation_p.M823I	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	822					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						ACGTTTTCATGAGCCAGGAAG	0.502								Direct reversal of damage;Mismatch excision repair (MMR)																																									0													96.0	97.0	97.0					6																	31730269		2203	4300	6503	SO:0001583	missense	4439			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.2466G>C	6.37:g.31730269G>C	ENSP00000364908:p.Met822Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.M839I	ENST00000375755.3	37	c.2517	CCDS4720.1	6	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526371	0.44969	.	.	ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000255152	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853;ENST00000429846;ENST00000491552	D;D;D;D;D;D;D;D;T	0.87809	-1.86;-1.85;-1.86;-1.85;-1.86;-2.3;-1.68;-1.67;1.01	5.81	3.98	0.46160	.	0.174382	0.64402	N	0.000011	T	0.61098	0.2320	N	0.19112	0.55	0.27877	N	0.939828	B;B;B;B;B	0.11235	0.0;0.001;0.001;0.001;0.004	B;B;B;B;B	0.10450	0.001;0.003;0.002;0.002;0.005	T	0.46527	-0.9185	9	0.24483	T	0.36	-12.2679	8.9036	0.35510	0.0788:0.0:0.7682:0.153	.	477;810;822;823;839	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	I	822;839;822;839;823;810;521;496;144;178	ENSP00000364908:M822I;ENSP00000364894:M839I;ENSP00000364903:M822I;ENSP00000431693:M839I;ENSP00000364855:M823I;ENSP00000364892:M810I;ENSP00000416784:M521I;ENSP00000379194:M496I;ENSP00000406849:M144I	ENSP00000364855:M823I	M	+	3	0	MSH5;MSH5-C6orf26	31838248	1.000000	0.71417	0.995000	0.50966	0.924000	0.55760	4.460000	0.60108	0.753000	0.32945	-0.150000	0.13652	ATG	MSH5	-	NULL		0.502	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MSH5	HGNC	protein_coding	OTTHUMT00000076243.4	G			31730269	+1	no_errors	ENST00000375742	ensembl	human	known	70_37	missense	SNP	1.000	C
MSL2	55167	genome.wustl.edu	37	3	135870318	135870318	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:135870318G>C	ENST00000309993.2	-	2	2137	c.1405C>G	c.(1405-1407)Caa>Gaa	p.Q469E	MSL2_ENST00000434835.2_Missense_Mutation_p.Q395E	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	469					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						CTTGGATTTTGAGTAGCACGC	0.458																																																	0													70.0	70.0	70.0					3																	135870318		2203	4300	6503	SO:0001583	missense	55167			AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.1405C>G	3.37:g.135870318G>C	ENSP00000311827:p.Gln469Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	pfscan_Znf_RING	p.Q469E	ENST00000309993.2	37	c.1405	CCDS33861.1	3	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282844	0.59867	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.77068	0.4076	M	0.68317	2.08	0.80722	D	1	P	0.51933	0.949	P	0.61397	0.888	T	0.76002	-0.3118	9	0.51188	T	0.08	-4.6594	19.1813	0.93625	0.0:0.0:1.0:0.0	.	469	Q9HCI7	MSL2_HUMAN	E	469;395	.	ENSP00000311827:Q469E	Q	-	1	0	MSL2	137353008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.866000	0.99616	2.771000	0.95319	0.563000	0.77884	CAA	MSL2	-	NULL		0.458	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL2	HGNC	protein_coding	OTTHUMT00000357347.1	G	NM_018133		135870318	-1	no_errors	ENST00000309993	ensembl	human	known	70_37	missense	SNP	1.000	C
MSLN	10232	genome.wustl.edu	37	16	814672	814672	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:814672C>G	ENST00000382862.3	+	6	421	c.326C>G	c.(325-327)tCt>tGt	p.S109C	MSLN_ENST00000545450.2_Missense_Mutation_p.S109C|MSLN_ENST00000566549.1_Missense_Mutation_p.S109C|MSLN_ENST00000563941.1_Missense_Mutation_p.S109C	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	109					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CACCGGCTCTCTGAGCCCCCC	0.682																																																	0													78.0	90.0	86.0					16																	814672		2199	4291	6490	SO:0001583	missense	10232			U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.326C>G	16.37:g.814672C>G	ENSP00000372313:p.Ser109Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	pfam_Mesothelin	p.S109C	ENST00000382862.3	37	c.326	CCDS32356.1	16	.	.	.	.	.	.	.	.	.	.	C	8.133	0.783521	0.16189	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.13657	2.57;2.57	2.54	2.54	0.30619	.	0.891435	0.09430	U	0.803257	T	0.24044	0.0582	L	0.40543	1.245	0.09310	N	1	D;D;D;D	0.69078	0.992;0.997;0.996;0.992	P;P;P;P	0.62813	0.753;0.907;0.85;0.753	T	0.13229	-1.0517	10	0.59425	D	0.04	-0.6102	8.2635	0.31799	0.0:1.0:0.0:0.0	.	108;109;109;109	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	C	109	ENSP00000442965:S109C;ENSP00000372313:S109C	ENSP00000372313:S109C	S	+	2	0	MSLN	754673	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.684000	0.25364	1.231000	0.43661	0.561000	0.74099	TCT	MSLN	-	pfam_Mesothelin		0.682	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MSLN	HGNC	protein_coding	OTTHUMT00000109253.2	C			814672	+1	no_errors	ENST00000382862	ensembl	human	known	70_37	missense	SNP	0.021	G
RNF123	63891	genome.wustl.edu	37	3	49724227	49724228	+	5'Flank	INS	-	-	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:49724227_49724228insC	ENST00000327697.6	+	0	0				RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000449682.2_Frame_Shift_Ins_p.D246fs|MST1_ENST00000494828.2_5'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000545762.1_3'UTR|MST1_ENST00000383728.3_Frame_Shift_Ins_p.D171fs	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CAGACCTTGGTCGAGGAACCTG	0.619																																																	0																																										SO:0001631	upstream_gene_variant	4485			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724228_49724228dupC	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Frame_Shift_Ins	INS	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D246fs	ENST00000327697.6	37	c.737_736	CCDS33758.1	3																																																																																			MST1	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.619	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346475.2	-	NM_022064		49724228	-1	no_errors	ENST00000449682	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.998	C
MT-ATP6	4508	genome.wustl.edu	37	M	9055	9055	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrM:9055G>A	ENST00000361899.2	+	1	529	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	MT-TS1_ENST00000387416.2_RNA|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	177			A -> T (in dbSNP:rs9645429).		ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						TAATTGGAAGCGCCACCCTAG	0.453																																																	0																																										SO:0001583	missense	4508					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.529G>A	M.37:g.9055G>A	ENSP00000354632:p.Ala177Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Missense_Mutation	SNP	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	p.A177T	ENST00000361899.2	37	c.529		MT																																																																																			MT-ATP6	-	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu		0.453	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	MT-ATP6	HGNC	protein_coding		G	YP_003024031		9055	+1	no_errors	ENST00000361899	ensembl	human	known	70_37	missense	SNP	NULL	A
MT-ND5	4540	genome.wustl.edu	37	M	13866	13866	+	Missense_Mutation	SNP	A	A	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrM:13866A>C	ENST00000361567.2	+	1	1530	c.1530A>C	c.(1528-1530)aaA>aaC	p.K510N	MT-TP_ENST00000387461.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	510					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CTAACCAACAAACTTAAAATA	0.448																																																	0																																										SO:0001583	missense	4540					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1530A>C	M.37:g.13866A>C	ENSP00000354813:p.Lys510Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.K510N	ENST00000361567.2	37	c.1530		MT																																																																																			MT-ND5	-	pfam_NADH_DH_su5_C		0.448	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		A	YP_003024036		13866	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	missense	SNP	NULL	C
MTA2	9219	genome.wustl.edu	37	11	62363281	62363281	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:62363281C>G	ENST00000278823.2	-	13	1586	c.1197G>C	c.(1195-1197)aaG>aaC	p.K399N	MTA2_ENST00000524902.1_Missense_Mutation_p.K226N|MTA2_ENST00000527204.1_Missense_Mutation_p.K226N	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	399					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CCCCATACTTCTTCCAGTAGA	0.572																																																	0													75.0	76.0	75.0					11																	62363281		2202	4299	6501	SO:0001583	missense	9219			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1197G>C	11.37:g.62363281C>G	ENSP00000278823:p.Lys399Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DB1|Q9UQB5	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.K399N	ENST00000278823.2	37	c.1197	CCDS8022.1	11	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588638	0.66105	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	D;D;D	0.99695	-6.43;-6.43;-6.43	5.42	3.56	0.40772	Zinc finger, GATA-type (2);	0.094060	0.64402	D	0.000001	D	0.99606	0.9857	M	0.84948	2.725	0.58432	D	0.999999	D	0.62365	0.991	D	0.76071	0.987	D	0.98816	1.0745	10	0.72032	D	0.01	-22.5186	9.6018	0.39609	0.0:0.831:0.0:0.169	.	399	O94776	MTA2_HUMAN	N	399;226;226	ENSP00000278823:K399N;ENSP00000431346:K226N;ENSP00000431797:K226N	ENSP00000278823:K399N	K	-	3	2	MTA2	62119857	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.155000	0.50700	0.675000	0.31264	-0.140000	0.14226	AAG	MTA2	-	pfam_Znf_GATA,smart_Znf_GATA		0.572	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTA2	HGNC	protein_coding	OTTHUMT00000395578.1	C	NM_004739		62363281	-1	no_errors	ENST00000278823	ensembl	human	known	70_37	missense	SNP	1.000	G
MTDH	92140	genome.wustl.edu	37	8	98699729	98699729	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:98699729C>G	ENST00000336273.3	+	4	969	c.641C>G	c.(640-642)tCt>tGt	p.S214C	MTDH_ENST00000519934.1_Missense_Mutation_p.S191C	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	214					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CTGACTGATTCTGGTTCATTG	0.423																																																	0													175.0	159.0	165.0					8																	98699729		2203	4300	6503	SO:0001583	missense	92140			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.641C>G	8.37:g.98699729C>G	ENSP00000338235:p.Ser214Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	NULL	p.S214C	ENST00000336273.3	37	c.641	CCDS6274.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.34|17.34	3.364454|3.364454	0.61513|0.61513	.|.	.|.	ENSG00000147649|ENSG00000147649	ENST00000522313|ENST00000336273;ENST00000519934	.|T;T	.|0.09350	.|2.99;2.99	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.232397	.|0.45606	.|D	.|0.000346	T|T	0.15305|0.15305	0.0369|0.0369	N|N	0.14661|0.14661	0.345|0.345	0.48452|0.48452	D|D	0.999652|0.999652	.|D	.|0.67145	.|0.996	.|P	.|0.59288	.|0.855	T|T	0.02378|0.02378	-1.1168|-1.1168	5|10	.|0.66056	.|D	.|0.02	-6.0166|-6.0166	14.8061|14.8061	0.69956|0.69956	0.0:0.846:0.154:0.0|0.0:0.846:0.154:0.0	.|.	.|214	.|Q86UE4	.|LYRIC_HUMAN	V|C	119|214;191	.|ENSP00000338235:S214C;ENSP00000428168:S191C	.|ENSP00000338235:S214C	L|S	+|+	1|2	2|0	MTDH|MTDH	98768905|98768905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.191000|2.191000	0.42640|0.42640	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	CTG|TCT	MTDH	-	NULL		0.423	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTDH	HGNC	protein_coding	OTTHUMT00000379772.2	C			98699729	+1	no_errors	ENST00000336273	ensembl	human	known	70_37	missense	SNP	1.000	G
MTHFD2	10797	genome.wustl.edu	37	2	74425838	74425838	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:74425838C>G	ENST00000394053.2	+	1	150	c.70C>G	c.(70-72)Cgc>Ggc	p.R24G	MTHFD2_ENST00000394050.3_5'UTR|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Missense_Mutation_p.R24G|MTHFD2_ENST00000264090.4_5'UTR|MTHFD2_ENST00000409601.1_Missense_Mutation_p.R24G	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	24					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	CTGCTCCCTTCGCCTTCGCCC	0.677																																																	0													18.0	22.0	21.0					2																	74425838		1986	4154	6140	SO:0001583	missense	10797			X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.70C>G	2.37:g.74425838C>G	ENSP00000377617:p.Arg24Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.R24G	ENST00000394053.2	37	c.70	CCDS1935.2	2	.	.	.	.	.	.	.	.	.	.	C	3.100	-0.185038	0.06340	.	.	ENSG00000065911	ENST00000394053;ENST00000409804;ENST00000409601	T;T;T	0.45276	1.91;0.9;1.9	4.58	1.77	0.24775	.	0.832555	0.11168	N	0.592284	T	0.22085	0.0532	N	0.19112	0.55	0.20489	N	0.999891	B;B	0.34313	0.448;0.057	B;B	0.30105	0.111;0.026	T	0.13522	-1.0506	10	0.25751	T	0.34	.	4.6234	0.12467	0.0:0.6222:0.1819:0.1959	.	24;24	B8ZZU9;P13995	.;MTDC_HUMAN	G	24	ENSP00000377617:R24G;ENSP00000386536:R24G;ENSP00000386542:R24G	ENSP00000377617:R24G	R	+	1	0	MTHFD2	74279346	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.371000	0.20450	0.404000	0.25506	0.591000	0.81541	CGC	MTHFD2	-	NULL		0.677	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2	HGNC	protein_coding	OTTHUMT00000252045.2	C			74425838	+1	no_errors	ENST00000394053	ensembl	human	known	70_37	missense	SNP	0.000	G
MTMR4	9110	genome.wustl.edu	37	17	56572509	56572509	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:56572509C>G	ENST00000323456.5	-	16	3118	c.2994G>C	c.(2992-2994)ctG>ctC	p.L998L	MTMR4_ENST00000579925.1_Silent_p.L941L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	998					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGGGCAGTTCAGTGGAACGG	0.507																																																	0													205.0	190.0	195.0					17																	56572509		2203	4300	6503	SO:0001819	synonymous_variant	9110			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2994G>C	17.37:g.56572509C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase	p.L998	ENST00000323456.5	37	c.2994	CCDS11608.1	17																																																																																			MTMR4	-	NULL		0.507	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	C	NM_004687		56572509	-1	no_errors	ENST00000323456	ensembl	human	known	70_37	silent	SNP	0.993	G
MTOR	2475	genome.wustl.edu	37	1	11182125	11182125	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:11182125G>A	ENST00000361445.4	-	48	6797	c.6721C>T	c.(6721-6723)Ccc>Tcc	p.P2241S	MTOR_ENST00000376838.1_Missense_Mutation_p.P446S	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2241	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TCACAGTGGGGAACCCAGCCA	0.537																																																	0													130.0	123.0	125.0					1																	11182125		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6721C>T	1.37:g.11182125G>A	ENSP00000354558:p.Pro2241Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.P2241S	ENST00000361445.4	37	c.6721	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.908282	0.72868	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.76448	-1.02;-1.02	5.21	5.21	0.72293	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.81475	0.4830	L	0.53671	1.685	0.80722	D	1	P	0.51449	0.945	P	0.51582	0.674	T	0.81206	-0.1038	10	0.41790	T	0.15	-9.6011	18.7844	0.91947	0.0:0.0:1.0:0.0	.	2241	P42345	MTOR_HUMAN	S	2241;446	ENSP00000354558:P2241S;ENSP00000366034:P446S	ENSP00000354558:P2241S	P	-	1	0	MTOR	11104712	1.000000	0.71417	0.991000	0.47740	0.907000	0.53573	9.369000	0.97156	2.437000	0.82529	0.650000	0.86243	CCC	MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.537	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	G	NM_004958		11182125	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	A
MTOR	2475	genome.wustl.edu	37	1	11182129	11182129	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:11182129C>A	ENST00000361445.4	-	48	6793	c.6717G>T	c.(6715-6717)tgG>tgT	p.W2239C	MTOR_ENST00000376838.1_Missense_Mutation_p.W444C	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2239	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGTGGGGAACCCAGCCAATGA	0.532																																																	0													132.0	125.0	127.0					1																	11182129		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6717G>T	1.37:g.11182129C>A	ENSP00000354558:p.Trp2239Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.W2239C	ENST00000361445.4	37	c.6717	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382747	0.82792	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	D;D	0.82167	-1.58;-1.58	5.21	5.21	0.72293	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.93664	0.7976	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95159	0.8280	10	0.87932	D	0	-18.2455	18.7844	0.91947	0.0:1.0:0.0:0.0	.	2239	P42345	MTOR_HUMAN	C	2239;444	ENSP00000354558:W2239C;ENSP00000366034:W444C	ENSP00000354558:W2239C	W	-	3	0	MTOR	11104716	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.407000	0.80029	2.437000	0.82529	0.650000	0.86243	TGG	MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	C	NM_004958		11182129	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	A
MTOR	2475	genome.wustl.edu	37	1	11184573	11184573	+	Missense_Mutation	SNP	G	G	A	rs587777894		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:11184573G>A	ENST00000361445.4	-	47	6720	c.6644C>T	c.(6643-6645)tCt>tTt	p.S2215F	MTOR_ENST00000376838.1_Missense_Mutation_p.S420F	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2215	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		S -> Y (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.S2215Y(4)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTTCCGAAGAGATGTTGGGTC	0.438																																																	4	Substitution - Missense(4)	large_intestine(2)|kidney(1)|endometrium(1)											101.0	98.0	99.0					1																	11184573		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6644C>T	1.37:g.11184573G>A	ENSP00000354558:p.Ser2215Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S2215F	ENST00000361445.4	37	c.6644	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966049	0.92855	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.78364	-1.17;-1.17	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.85771	0.5774	M	0.70595	2.14	0.80722	D	1	D	0.58970	0.984	P	0.57620	0.824	D	0.86797	0.1989	10	0.87932	D	0	-14.2436	18.2956	0.90145	0.0:0.0:1.0:0.0	.	2215	P42345	MTOR_HUMAN	F	2215;420	ENSP00000354558:S2215F;ENSP00000366034:S420F	ENSP00000354558:S2215F	S	-	2	0	MTOR	11107160	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.362000	0.97126	2.761000	0.94854	0.650000	0.86243	TCT	MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.438	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	G	NM_004958		11184573	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	A
MTOR	2475	genome.wustl.edu	37	1	11184661	11184661	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:11184661G>C	ENST00000361445.4	-	47	6632	c.6556C>G	c.(6556-6558)Cta>Gta	p.L2186V	MTOR_ENST00000376838.1_Missense_Mutation_p.L391V	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2186	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGGCCTTTTAGAAGGAAAACA	0.517																																																	0													122.0	100.0	108.0					1																	11184661		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6556C>G	1.37:g.11184661G>C	ENSP00000354558:p.Leu2186Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L2186V	ENST00000361445.4	37	c.6556	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053646	0.75960	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.61859	0.07;0.07	5.84	5.84	0.93424	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.64402	D	0.000001	T	0.76442	0.3988	M	0.73753	2.245	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	T	0.77327	-0.2629	10	0.62326	D	0.03	-10.8389	18.3151	0.90218	0.0:0.0:1.0:0.0	.	2186	P42345	MTOR_HUMAN	V	2186;391	ENSP00000354558:L2186V;ENSP00000366034:L391V	ENSP00000354558:L2186V	L	-	1	2	MTOR	11107248	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.346000	0.59367	2.765000	0.95021	0.655000	0.94253	CTA	MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.517	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	G	NM_004958		11184661	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	C
MTOR	2475	genome.wustl.edu	37	1	11303244	11303244	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:11303244C>G	ENST00000361445.4	-	9	1415	c.1339G>C	c.(1339-1341)Gag>Cag	p.E447Q		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	447	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ACCTTAAACTCAGACCTCACA	0.527																																																	0													128.0	118.0	122.0					1																	11303244		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.1339G>C	1.37:g.11303244C>G	ENSP00000354558:p.Glu447Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E447Q	ENST00000361445.4	37	c.1339	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.894924	0.52121	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.65178	-0.14	6.11	6.11	0.99139	Armadillo-like helical (1);Armadillo-type fold (2);	0.053639	0.64402	D	0.000001	T	0.56426	0.1984	L	0.41710	1.295	0.80722	D	1	B	0.19583	0.037	B	0.20955	0.032	T	0.50127	-0.8864	10	0.15499	T	0.54	-6.9227	20.7342	0.99715	0.0:1.0:0.0:0.0	.	447	P42345	MTOR_HUMAN	Q	447	ENSP00000354558:E447Q	ENSP00000354558:E447Q	E	-	1	0	MTOR	11225831	1.000000	0.71417	0.966000	0.40874	0.925000	0.55904	7.304000	0.78882	2.906000	0.99361	0.655000	0.94253	GAG	MTOR	-	superfamily_ARM-type_fold		0.527	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	C	NM_004958		11303244	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	G
MTUS2	23281	genome.wustl.edu	37	13	29600683	29600683	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:29600683G>C	ENST00000431530.3	+	1	1936	c.1878G>C	c.(1876-1878)gaG>gaC	p.E626D		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	616						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGGGAATGGAGAACTATCAGG	0.517																																																	0													39.0	42.0	41.0					13																	29600683		1993	4158	6151	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1878G>C	13.37:g.29600683G>C	ENSP00000392057:p.Glu626Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.E626D	ENST00000431530.3	37	c.1878	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	g	13.32	2.200682	0.38905	.	.	ENSG00000132938	ENST00000431530	T	0.15487	2.42	6.03	2.9	0.33743	.	0.101103	0.43110	D	0.000602	T	0.12135	0.0295	L	0.42245	1.32	0.48341	D	0.999634	B	0.26081	0.141	B	0.22753	0.041	T	0.12192	-1.0557	9	.	.	.	.	5.9257	0.19110	0.2087:0.2886:0.5027:0.0	.	616	Q5JR59	MTUS2_HUMAN	D	626	ENSP00000392057:E626D	.	E	+	3	2	MTUS2	28498683	0.995000	0.38212	0.019000	0.16419	0.218000	0.24690	1.395000	0.34520	0.696000	0.31696	0.655000	0.94253	GAG	MTUS2	-	NULL		0.517	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	G	XM_166270		29600683	+1	no_errors	ENST00000431530	ensembl	human	known	70_37	missense	SNP	0.694	C
MUC12	10071	genome.wustl.edu	37	7	100636087	100636087	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:100636087C>G	ENST00000379442.3	+	5	2672	c.2672C>G	c.(2671-2673)tCa>tGa	p.S891*	MUC12_ENST00000536621.1_Nonsense_Mutation_p.S748*			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	891	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AGCCCGGGCTCAACTGCAACA	0.532																																																	0													13.0	28.0	24.0					7																	100636087		687	1574	2261	SO:0001587	stop_gained	10071			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.2672C>G	7.37:g.100636087C>G	ENSP00000368755:p.Ser891*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Nonsense_Mutation	SNP	pfam_SEA	p.S891*	ENST00000379442.3	37	c.2672		7	.	.	.	.	.	.	.	.	.	.	-	21.7	4.190046	0.78789	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	.	.	.	0.481	0.481	0.16809	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	6.766	0.23566	0.0:0.9998:0.0:2.0E-4	.	.	.	.	X	891;748	.	ENSP00000368755:S891X	S	+	2	0	MUC12	100422807	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.694000	0.25512	0.504000	0.28082	0.184000	0.17185	TCA	MUC12	-	NULL		0.532	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	C	XM_379904		100636087	+1	no_errors	ENST00000379442	ensembl	human	known	70_37	nonsense	SNP	0.284	G
MUC16	94025	genome.wustl.edu	37	19	9011002	9011002	+	Silent	SNP	G	G	A	rs374640134		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:9011002G>A	ENST00000397910.4	-	37	39119	c.38916C>T	c.(38914-38916)ttC>ttT	p.F12972F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12974					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCGATGGGTGAAACCTGCAT	0.542													N|||	1	0.000199681	0.0008	0.0	5008	,	,		18718	0.0		0.0	False		,,,				2504	0.0																0								G		1,3841		0,1,1920	142.0	127.0	132.0		38916	1.8	0.8	19		132	0,8228		0,0,4114	no	coding-synonymous	MUC16	NM_024690.2		0,1,6034	AA,AG,GG		0.0,0.026,0.0083		12972/14508	9011002	1,12069	1921	4114	6035	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38916C>T	19.37:g.9011002G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.F12972	ENST00000397910.4	37	c.38916	CCDS54212.1	19																																																																																			MUC16	-	smart_SEA		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9011002	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	silent	SNP	0.856	A
MUC17	140453	genome.wustl.edu	37	7	100675173	100675173	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:100675173C>G	ENST00000306151.4	+	3	540	c.476C>G	c.(475-477)tCa>tGa	p.S159*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	159	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCATTTCATCAACAATGGCT	0.453																																																	0													218.0	195.0	203.0					7																	100675173		2203	4300	6503	SO:0001587	stop_gained	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.476C>G	7.37:g.100675173C>G	ENSP00000302716:p.Ser159*	Somatic		WXS	Illumina HiSeq	Phase_IV	O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S159*	ENST00000306151.4	37	c.476	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956046	0.34471	.	.	ENSG00000169876	ENST00000306151	.	.	.	0.801	0.801	0.18679	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	4.9541	0.14031	0.0:1.0:0.0:0.0	.	.	.	.	X	159	.	ENSP00000302716:S159X	S	+	2	0	MUC17	100461893	0.000000	0.05858	0.011000	0.14972	0.020000	0.10135	0.642000	0.24735	0.727000	0.32360	0.196000	0.17591	TCA	MUC17	-	NULL		0.453	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	C	NM_001040105		100675173	+1	no_errors	ENST00000306151	ensembl	human	known	70_37	nonsense	SNP	0.006	G
MUC17	140453	genome.wustl.edu	37	7	100679611	100679611	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:100679611C>G	ENST00000306151.4	+	3	4978	c.4914C>G	c.(4912-4914)gtC>gtG	p.V1638V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1638	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTATACCTGTCAGCACCACGC	0.493																																																	0													232.0	242.0	239.0					7																	100679611		2203	4300	6503	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4914C>G	7.37:g.100679611C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O14761|Q685J2|Q8TDH7	Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.V1638	ENST00000306151.4	37	c.4914	CCDS34711.1	7																																																																																			MUC17	-	NULL		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	C	NM_001040105		100679611	+1	no_errors	ENST00000306151	ensembl	human	known	70_37	silent	SNP	0.009	G
MUC17	140453	genome.wustl.edu	37	7	100682996	100682996	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:100682996G>C	ENST00000306151.4	+	3	8363	c.8299G>C	c.(8299-8301)Gag>Cag	p.E2767Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2767	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAC	0.483																																																	0													253.0	247.0	249.0					7																	100682996		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8299G>C	7.37:g.100682996G>C	ENSP00000302716:p.Glu2767Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E2767Q	ENST00000306151.4	37	c.8299	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	5.904	0.350871	0.11182	.	.	ENSG00000169876	ENST00000306151	T	0.02050	4.48	0.37	-0.741	0.11112	.	.	.	.	.	T	0.02807	0.0084	L	0.34521	1.04	0.09310	N	1	P	0.51653	0.947	P	0.53490	0.727	T	0.40459	-0.9562	9	0.14252	T	0.57	.	3.7402	0.08527	0.6564:0.0:0.3436:0.0	.	2767	Q685J3	MUC17_HUMAN	Q	2767	ENSP00000302716:E2767Q	ENSP00000302716:E2767Q	E	+	1	0	MUC17	100469716	0.005000	0.15991	0.001000	0.08648	0.008000	0.06430	0.486000	0.22340	-0.420000	0.07427	0.134000	0.15878	GAG	MUC17	-	NULL		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100682996	+1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.011	C
MUC2	4583	genome.wustl.edu	37	11	1095202	1095202	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:1095202G>C	ENST00000441003.2	+	32	6049	c.6022G>C	c.(6022-6024)Gag>Cag	p.E2008Q	MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Missense_Mutation_p.E146Q	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4370					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.E2008*(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGTACGTTGGAGTTCTATAA	0.587																																																	1	Substitution - Nonsense(1)	lung(1)											84.0	104.0	97.0					11																	1095202		2150	4236	6386	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.6022G>C	11.37:g.1095202G>C	ENSP00000415183:p.Glu2008Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.E2008Q	ENST00000441003.2	37	c.6022		11	.	.	.	.	.	.	.	.	.	.	G	0.048	-1.261027	0.01445	.	.	ENSG00000198788	ENST00000441003;ENST00000361558	T;T	0.29655	2.58;1.56	3.35	-0.159	0.13379	.	.	.	.	.	T	0.19685	0.0473	N	0.25647	0.755	0.09310	N	1	B	0.24043	0.096	B	0.19666	0.026	T	0.25779	-1.0122	9	0.18276	T	0.48	.	12.1768	0.54190	0.0:0.7096:0.2904:0.0	.	2008	E7EUV1	.	Q	2008;146	ENSP00000415183:E2008Q;ENSP00000354885:E146Q	ENSP00000354885:E146Q	E	+	1	0	MUC2	1085202	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	0.007000	0.13174	-0.166000	0.10890	0.491000	0.48974	GAG	MUC2	-	NULL		0.587	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	G	NM_002457		1095202	+1	no_errors	ENST00000441003	ensembl	human	known	70_37	missense	SNP	0.003	C
MUC20	200958	genome.wustl.edu	37	3	195453117	195453117	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:195453117G>T	ENST00000447234.2	+	2	1769	c.1643G>T	c.(1642-1644)gGa>gTa	p.G548V	MUC20_ENST00000320736.6_Missense_Mutation_p.G377V|MUC20_ENST00000436408.1_Missense_Mutation_p.G548V|MUC20_ENST00000445522.2_Missense_Mutation_p.G513V	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	548	Involved in oligomerization.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AAAGTCTCAGGAGCAGCTCCG	0.572																																																	0													48.0	44.0	45.0					3																	195453117		1964	4147	6111	SO:0001583	missense	200958			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1643G>T	3.37:g.195453117G>T	ENSP00000414350:p.Gly548Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	NULL	p.G548V	ENST00000447234.2	37	c.1643		3	.	.	.	.	.	.	.	.	.	.	G	9.846	1.192454	0.21954	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.21031	2.48;2.59;2.65;2.03	3.87	2.89	0.33648	.	0.183648	0.26757	N	0.022650	T	0.28928	0.0718	L	0.34521	1.04	0.09310	N	0.999993	D	0.89917	1.0	D	0.72338	0.977	T	0.02766	-1.1113	10	0.66056	D	0.02	-4.1368	6.2329	0.20744	0.166:0.0:0.834:0.0	.	377	E9PH32	.	V	548;377;548;513	ENSP00000414350:G548V;ENSP00000325431:G377V;ENSP00000396774:G548V;ENSP00000405629:G513V	ENSP00000325431:G377V	G	+	2	0	MUC20	196938788	0.000000	0.05858	0.009000	0.14445	0.022000	0.10575	-0.027000	0.12371	0.825000	0.34637	0.514000	0.50259	GGA	MUC20	-	NULL		0.572	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	G	NM_152673		195453117	+1	no_errors	ENST00000447234	ensembl	human	known	70_37	missense	SNP	0.006	T
MUC4	4585	genome.wustl.edu	37	3	195509548	195509548	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:195509548G>C	ENST00000463781.3	-	2	9362	c.8903C>G	c.(8902-8904)tCa>tGa	p.S2968*	MUC4_ENST00000475231.1_Nonsense_Mutation_p.S2968*|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGGATGCTGAGGAAGTGTC	0.582																																																	0													12.0	8.0	9.0					3																	195509548		658	1538	2196	SO:0001587	stop_gained	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8903C>G	3.37:g.195509548G>C	ENSP00000417498:p.Ser2968*	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Nonsense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S2968*	ENST00000463781.3	37	c.8903	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	48	14.471032	0.99797	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5027	0.07679	0.3048:0.0:0.6952:0.0	.	.	.	.	X	2968	.	.	S	-	2	0	MUC4	196994327	0.009000	0.17119	0.015000	0.15790	0.000000	0.00434	1.159000	0.31749	0.482000	0.27582	0.000000	0.15137	TCA	MUC4	-	NULL		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195509548	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	nonsense	SNP	0.723	C
MUC4	4585	genome.wustl.edu	37	3	195509644	195509644	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:195509644G>A	ENST00000463781.3	-	2	9266	c.8807C>T	c.(8806-8808)tCa>tTa	p.S2936L	MUC4_ENST00000475231.1_Missense_Mutation_p.S2936L|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGGATACTGAGGAAAGGCT	0.577																																																	0													9.0	7.0	8.0					3																	195509644		662	1509	2171	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8807C>T	3.37:g.195509644G>A	ENSP00000417498:p.Ser2936Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S2936L	ENST00000463781.3	37	c.8807	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	8.745	0.920006	0.17982	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31769	1.49;1.48	.	.	.	.	.	.	.	.	T	0.31544	0.0800	N	0.19112	0.55	0.09310	N	1	P	0.52170	0.951	D	0.65443	0.935	T	0.19778	-1.0295	7	.	.	.	.	5.8178	0.18506	0.001:0.0:0.999:0.0	.	2808	E7ESK3	.	L	2936	ENSP00000417498:S2936L;ENSP00000420243:S2936L	.	S	-	2	0	MUC4	196994423	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	1.703000	0.37846	-0.000000	0.14550	0.000000	0.15137	TCA	MUC4	-	NULL		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195509644	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.211	A
MUC4	4585	genome.wustl.edu	37	3	195509762	195509762	+	Missense_Mutation	SNP	G	G	A	rs199987885	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:195509762G>A	ENST00000463781.3	-	2	9148	c.8689C>T	c.(8689-8691)Ctt>Ttt	p.L2897F	MUC4_ENST00000475231.1_Missense_Mutation_p.L2897F|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGAGAGGAAGAGGGGTAGCG	0.592																																																	0													24.0	14.0	17.0					3																	195509762		685	1569	2254	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8689C>T	3.37:g.195509762G>A	ENSP00000417498:p.Leu2897Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L2897F	ENST00000463781.3	37	c.8689	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	6.486	0.457893	0.12342	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35421	1.31;1.33	.	.	.	.	.	.	.	.	T	0.15652	0.0377	N	0.19112	0.55	0.09310	N	1	P	0.35139	0.486	B	0.22601	0.04	T	0.14144	-1.0483	7	.	.	.	.	3.8637	0.09007	0.0:0.0:0.3759:0.6241	.	2769	E7ESK3	.	F	2897	ENSP00000417498:L2897F;ENSP00000420243:L2897F	.	L	-	1	0	MUC4	196994541	0.057000	0.20700	0.000000	0.03702	0.000000	0.00434	0.848000	0.27710	-0.000000	0.14550	0.000000	0.15137	CTT	MUC4	-	NULL		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195509762	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.199	A
MUC4	4585	genome.wustl.edu	37	3	195509920	195509920	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:195509920C>T	ENST00000463781.3	-	2	8990	c.8531G>A	c.(8530-8532)gGt>gAt	p.G2844D	MUC4_ENST00000475231.1_Missense_Mutation_p.G2844D|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTGGTGTGACCTGAGGATGC	0.582																																																	0													79.0	49.0	58.0					3																	195509920		689	1581	2270	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8531G>A	3.37:g.195509920C>T	ENSP00000417498:p.Gly2844Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.G2844D	ENST00000463781.3	37	c.8531	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	c	4.583	0.108380	0.08780	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35789	1.36;1.29	.	.	.	.	.	.	.	.	T	0.32164	0.0820	N	0.14661	0.345	0.09310	N	1	D	0.62365	0.991	D	0.75020	0.985	T	0.13282	-1.0515	7	.	.	.	.	1.3981	0.02265	0.3482:0.3246:0.0:0.3272	.	2716	E7ESK3	.	D	2844	ENSP00000417498:G2844D;ENSP00000420243:G2844D	.	G	-	2	0	MUC4	196994699	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.600000	0.05693	-0.000000	0.14550	0.000000	0.15137	GGT	MUC4	-	NULL		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	C	NM_018406		195509920	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.061	T
MUC4	4585	genome.wustl.edu	37	3	195510290	195510290	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:195510290G>A	ENST00000463781.3	-	2	8620	c.8161C>T	c.(8161-8163)Ctt>Ttt	p.L2721F	MUC4_ENST00000475231.1_Missense_Mutation_p.L2721F|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACAGGAAGAGAGGTGGTG	0.552																																																	0													2.0	1.0	1.0					3																	195510290		249	649	898	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8161C>T	3.37:g.195510290G>A	ENSP00000417498:p.Leu2721Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L2721F	ENST00000463781.3	37	c.8161	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	0.328	-0.958023	0.02267	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.52057	1.12;0.68	1.02	-2.03	0.07365	.	.	.	.	.	T	0.24928	0.0605	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.18461	-1.0336	6	.	.	.	.	1.9262	0.03317	0.2808:0.0:0.2828:0.4363	.	.	.	.	F	2721	ENSP00000417498:L2721F;ENSP00000420243:L2721F	.	L	-	1	0	MUC4	196993389	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-1.003000	0.03682	-0.817000	0.04335	0.074000	0.15403	CTT	MUC4	-	NULL		0.552	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195510290	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.001	A
MUC4	4585	genome.wustl.edu	37	3	195510292	195510292	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:195510292G>A	ENST00000463781.3	-	2	8618	c.8159C>T	c.(8158-8160)tCt>tTt	p.S2720F	MUC4_ENST00000475231.1_Missense_Mutation_p.S2720F|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACAGGAAGAGAGGTGGTGTC	0.547																																																	0													2.0	1.0	1.0					3																	195510292		214	626	840	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8159C>T	3.37:g.195510292G>A	ENSP00000417498:p.Ser2720Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S2720F	ENST00000463781.3	37	c.8159	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	0.775	-0.764551	0.02996	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37235	1.21;1.3	1.02	1.02	0.19986	.	.	.	.	.	T	0.15955	0.0384	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.26780	-1.0093	6	.	.	.	.	5.3788	0.16179	0.0:0.0:1.0:0.0	.	.	.	.	F	2720	ENSP00000417498:S2720F;ENSP00000420243:S2720F	.	S	-	2	0	MUC4	196993391	0.011000	0.17503	0.002000	0.10522	0.017000	0.09413	1.820000	0.39032	0.489000	0.27749	0.074000	0.15403	TCT	MUC4	-	NULL		0.547	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195510292	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.008	A
MUC4	4585	genome.wustl.edu	37	3	195510796	195510796	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:195510796G>A	ENST00000463781.3	-	2	8114	c.7655C>T	c.(7654-7656)tCa>tTa	p.S2552L	MUC4_ENST00000475231.1_Missense_Mutation_p.S2552L|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGGATGCTGAGGAAGGGCT	0.582																																																	0													97.0	79.0	84.0					3																	195510796		678	1591	2269	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7655C>T	3.37:g.195510796G>A	ENSP00000417498:p.Ser2552Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S2552L	ENST00000463781.3	37	c.7655	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	5.710	0.315467	0.10789	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36699	1.39;1.24	.	.	.	.	.	.	.	.	T	0.14356	0.0347	N	0.14661	0.345	0.09310	N	1	P	0.38110	0.618	B	0.28638	0.092	T	0.13710	-1.0499	7	.	.	.	.	3.7959	0.08738	0.0:0.0:0.5797:0.4203	.	2552	E7ESK3	.	L	2552	ENSP00000417498:S2552L;ENSP00000420243:S2552L	.	S	-	2	0	MUC4	196995191	0.502000	0.26107	0.000000	0.03702	0.000000	0.00434	3.330000	0.52068	-0.000000	0.14550	0.000000	0.15137	TCA	MUC4	-	NULL		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195510796	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.016	A
MUC4	4585	genome.wustl.edu	37	3	195513554	195513554	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:195513554G>C	ENST00000463781.3	-	2	5356	c.4897C>G	c.(4897-4899)Ctt>Gtt	p.L1633V	MUC4_ENST00000475231.1_Missense_Mutation_p.L1633V|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACAGGAAGAGGGGTGGTG	0.582																																																	0													34.0	38.0	37.0					3																	195513554		690	1579	2269	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4897C>G	3.37:g.195513554G>C	ENSP00000417498:p.Leu1633Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L1633V	ENST00000463781.3	37	c.4897	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	1.943	-0.443226	0.04604	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.54479	0.65;0.57	.	.	.	.	.	.	.	.	T	0.37210	0.0995	N	0.19112	0.55	0.09310	N	1	P	0.34587	0.458	B	0.41691	0.364	T	0.32348	-0.9910	6	.	.	.	.	.	.	.	.	1633	E7ESK3	.	V	1633	ENSP00000417498:L1633V;ENSP00000420243:L1633V	.	L	-	1	0	MUC4	196997949	0.000000	0.05858	0.018000	0.16275	0.017000	0.09413	-1.492000	0.02300	0.088000	0.17205	0.089000	0.15464	CTT	MUC4	-	NULL		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195513554	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.001	C
MUC6	4588	genome.wustl.edu	37	11	1031828	1031828	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:1031828G>C	ENST00000421673.2	-	3	391	c.341C>G	c.(340-342)tCa>tGa	p.S114*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	114	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCCTTGACTGAGATGATGGC	0.667																																																	0													22.0	25.0	24.0					11																	1031828		2041	4173	6214	SO:0001587	stop_gained	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.341C>G	11.37:g.1031828G>C	ENSP00000406861:p.Ser114*	Somatic		WXS	Illumina HiSeq	Phase_IV	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.S114*	ENST00000421673.2	37	c.341	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309763	0.60414	.	.	ENSG00000184956	ENST00000421673;ENST00000525923	.	.	.	3.75	3.75	0.43078	.	0.000000	0.30419	U	0.009669	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	15.5524	0.76164	0.0:0.0:1.0:0.0	.	.	.	.	X	114;138	.	ENSP00000406861:S114X	S	-	2	0	MUC6	1021828	0.002000	0.14202	0.735000	0.30896	0.287000	0.27160	0.909000	0.28558	1.822000	0.53115	0.462000	0.41574	TCA	MUC6	-	pfam_VWF_type-D,smart_VWF_type-D		0.667	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	G	XM_290540		1031828	-1	no_errors	ENST00000421673	ensembl	human	known	70_37	nonsense	SNP	0.910	C
MUC7	4589	genome.wustl.edu	37	4	71347022	71347022	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:71347022G>A	ENST00000304887.5	+	3	751	c.561G>A	c.(559-561)gaG>gaA	p.E187E	MUC7_ENST00000456088.1_Silent_p.E187E|MUC7_ENST00000413702.1_Silent_p.E187E	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	187	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CTCCACCAGAGACCACAGCTG	0.587																																																	0													337.0	272.0	294.0					4																	71347022		2203	4300	6503	SO:0001819	synonymous_variant	4589			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.561G>A	4.37:g.71347022G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UCD7|Q9UCD8	Silent	SNP	NULL	p.E187	ENST00000304887.5	37	c.561	CCDS3541.1	4																																																																																			MUC7	-	NULL		0.587	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC7	HGNC	protein_coding	OTTHUMT00000252168.2	G	NM_152291		71347022	+1	no_errors	ENST00000304887	ensembl	human	known	70_37	silent	SNP	0.000	A
MVP	9961	genome.wustl.edu	37	16	29841880	29841880	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:29841880G>A	ENST00000357402.5	+	2	148	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	MVP_ENST00000452209.2_5'UTR|MVP_ENST00000395353.1_Missense_Mutation_p.E4K|MVP_ENST00000566554.1_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	4					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CATGGCAACTGAAGAGTTCAT	0.582																																																	0													175.0	129.0	145.0					16																	29841880		2197	4300	6497	SO:0001583	missense	9961			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.10G>A	16.37:g.29841880G>A	ENSP00000349977:p.Glu4Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	pfam_Vault_N,pfam_MVP_shoulder	p.E4K	ENST00000357402.5	37	c.10	CCDS10656.1	16	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833943	0.50951	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.32272	1.46;1.46	5.58	4.62	0.57501	.	0.483429	0.24074	N	0.041788	T	0.27063	0.0663	L	0.44542	1.39	0.80722	D	1	B	0.25351	0.124	B	0.27500	0.08	T	0.05484	-1.0882	10	0.44086	T	0.13	-1.1758	10.336	0.43850	0.0906:0.0:0.9094:0.0	.	4	Q14764	MVP_HUMAN	K	4	ENSP00000349977:E4K;ENSP00000378760:E4K	ENSP00000349977:E4K	E	+	1	0	MVP	29749381	0.997000	0.39634	0.274000	0.24659	0.959000	0.62525	5.995000	0.70631	1.364000	0.46038	0.561000	0.74099	GAA	MVP	-	NULL		0.582	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVP	HGNC	protein_coding	OTTHUMT00000109711.3	G	NM_005115		29841880	+1	no_errors	ENST00000357402	ensembl	human	known	70_37	missense	SNP	0.705	A
MX2	4600	genome.wustl.edu	37	21	42762503	42762503	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:42762503C>T	ENST00000330714.3	+	6	928	c.744C>T	c.(742-744)ctC>ctT	p.L248L	MX2_ENST00000543692.1_Intron	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	248	Dynamin-type G.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCAAGGCTCTCATCAAGAAGT	0.557																																																	0													276.0	220.0	239.0					21																	42762503		2203	4300	6503	SO:0001819	synonymous_variant	4600				CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.744C>T	21.37:g.42762503C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z5D3|D3DSI7	Silent	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin	p.L248	ENST00000330714.3	37	c.744	CCDS13672.1	21																																																																																			MX2	-	pfam_Dynamin_GTPase,smart_Dynamin_GTPase		0.557	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX2	HGNC	protein_coding	OTTHUMT00000195147.1	C	NM_002463		42762503	+1	no_errors	ENST00000330714	ensembl	human	known	70_37	silent	SNP	0.998	T
MXRA5	25878	genome.wustl.edu	37	X	3239349	3239349	+	Silent	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:3239349G>T	ENST00000217939.6	-	5	4531	c.4377C>A	c.(4375-4377)acC>acA	p.T1459T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1459						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTGATCAAGGGTGGTGGTTT	0.488																																																	0													76.0	66.0	69.0					X																	3239349		2203	4300	6503	SO:0001819	synonymous_variant	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4377C>A	X.37:g.3239349G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P1M7|Q9Y3Y8	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T1459	ENST00000217939.6	37	c.4377	CCDS14124.1	X																																																																																			MXRA5	-	NULL		0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	G	NM_015419		3239349	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	silent	SNP	0.000	T
MXRA5	25878	genome.wustl.edu	37	X	3241581	3241581	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:3241581C>T	ENST00000217939.6	-	5	2299	c.2145G>A	c.(2143-2145)ctG>ctA	p.L715L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	715						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTTTGGATGCAGAAGTCTCC	0.498																																																	0													84.0	74.0	77.0					X																	3241581		2203	4300	6503	SO:0001819	synonymous_variant	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2145G>A	X.37:g.3241581C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P1M7|Q9Y3Y8	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L715	ENST00000217939.6	37	c.2145	CCDS14124.1	X																																																																																			MXRA5	-	NULL		0.498	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	C	NM_015419		3241581	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	silent	SNP	0.000	T
MYB	4602	genome.wustl.edu	37	6	135539381	135539382	+	3'UTR	INS	-	-	T	rs200493203	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:135539381_135539382insT	ENST00000367814.4	+	0	2372_2373				MYB_ENST00000525369.1_3'UTR|MYB_ENST00000442647.2_3'UTR|MYB_ENST00000341911.5_3'UTR|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000316528.8_3'UTR	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CTTAATGCAGATTTTTTTAAAA	0.248			T	NFIB	adenoid cystic carcinoma								?|TTTTTTT|TTTTTTTT|unsure	29	0.00579073	0.0045	0.0014	5008	,	,		17653	0.001		0.0	False		,,,				2504	0.0215							Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0																																										SO:0001624	3_prime_UTR_variant	4602				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.*264->T	6.37:g.135539388_135539388dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	RNA	INS	-	NULL	ENST00000367814.4	37	NULL	CCDS5174.1	6																																																																																			MYB	-	-		0.248	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	-			135539382	+1	no_errors	ENST00000531845	ensembl	human	known	70_37	rna	INS	1.000:0.998	T
MYBL2	4605	genome.wustl.edu	37	20	42331337	42331338	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:42331337_42331338GG>AA	ENST00000217026.4	+	8	1286_1287	c.1159_1160GG>AA	c.(1159-1161)GGc>AAc	p.G387N	MYBL2_ENST00000396863.4_Missense_Mutation_p.G363N	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	387					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GAGCAGCCGGGGCGAGCTGATC	0.673																																																	0																																										SO:0001583	missense	4605				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	Exception_encountered	20.37:g.42331337_42331338delinsAA	ENSP00000217026:p.Gly387Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.G387S|p.G387D	ENST00000217026.4	37	c.1159|c.1160	CCDS13322.1	20																																																																																			MYBL2	-	NULL		0.673	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBL2	HGNC	protein_coding	OTTHUMT00000080408.1	G	NM_002466		42331337|42331338	+1	no_errors	ENST00000217026	ensembl	human	known	70_37	missense	SNP	1.000	A
MYC	4609	genome.wustl.edu	37	8	128752825	128752825	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:128752825C>T	ENST00000377970.2	+	3	1496	c.986C>T	c.(985-987)tCc>tTc	p.S329F	MYC_ENST00000524013.1_Missense_Mutation_p.S328F	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	314					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	GCGCCTCCCTCCACTCGGAAG	0.577		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""																																			Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"""L, E"""	0													82.0	63.0	70.0					8																	128752825		2203	4300	6503	SO:0001583	missense	4609				CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000377970.2:c.986C>T	8.37:g.128752825C>T	ENSP00000367207:p.Ser329Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8WFE7|P01107|Q14026	Missense_Mutation	SNP	pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom,prints_Tscrpt_reg_Myc	p.S329F	ENST00000377970.2	37	c.986	CCDS6359.2	8	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356729	0.61293	.	.	ENSG00000136997	ENST00000377970;ENST00000524013;ENST00000454617	T;T	0.20881	2.04;2.04	5.39	5.39	0.77823	Transcription regulator Myc, N-terminal (1);	0.141208	0.49305	D	0.000157	T	0.43322	0.1242	L	0.52126	1.63	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.26780	-1.0093	10	0.72032	D	0.01	-21.2578	18.133	0.89608	0.0:1.0:0.0:0.0	.	314	P01106	MYC_HUMAN	F	329;328;295	ENSP00000367207:S329F;ENSP00000430235:S328F	ENSP00000367207:S329F	S	+	2	0	MYC	128822007	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	4.699000	0.61796	2.519000	0.84933	0.650000	0.86243	TCC	MYC	-	pfam_Tscrpt_reg_Myc_N		0.577	MYC-001	KNOWN	basic|CCDS	protein_coding	MYC	HGNC	protein_coding	OTTHUMT00000250277.3	C			128752825	+1	no_errors	ENST00000377970	ensembl	human	known	70_37	missense	SNP	1.000	T
MYCBP2	23077	genome.wustl.edu	37	13	77640190	77640190	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:77640190C>T	ENST00000544440.2	-	72	12392	c.12375G>A	c.(12373-12375)atG>atA	p.M4125I	MYCBP2_ENST00000357337.6_Missense_Mutation_p.M4125I|MYCBP2_ENST00000407578.2_Missense_Mutation_p.M4163I					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTGAGCCCTTCATCCACCAAT	0.388																																																	0													159.0	152.0	154.0					13																	77640190		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.12375G>A	13.37:g.77640190C>T	ENSP00000444596:p.Met4125Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.M4163I	ENST00000544440.2	37	c.12489		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.37|18.37	3.610065|3.610065	0.66558|0.66558	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000429715|ENST00000357337;ENST00000407578;ENST00000544440	.|T;T;T	.|0.29142	.|1.59;1.58;1.59	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.21801|0.21801	0.0525|0.0525	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	.|B	.|0.29627	.|0.252	.|B	.|0.21546	.|0.035	T|T	0.06954|0.06954	-1.0798|-1.0798	5|10	.|0.66056	.|D	.|0.02	.|.	20.0919|20.0919	0.97823|0.97823	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4125	.|O75592	.|MYCB2_HUMAN	K|I	546|4125;4163;4125	.|ENSP00000349892:M4125I;ENSP00000384288:M4163I;ENSP00000444596:M4125I	.|ENSP00000349892:M4125I	E|M	-|-	1|3	0|0	MYCBP2|MYCBP2	76538191|76538191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.956000|5.956000	0.70315|0.70315	2.810000|2.810000	0.96702|0.96702	0.650000|0.650000	0.86243|0.86243	GAA|ATG	MYCBP2	-	NULL		0.388	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	C	NM_015057		77640190	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	missense	SNP	1.000	T
MYH10	4628	genome.wustl.edu	37	17	8379172	8379172	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:8379172C>T	ENST00000269243.4	-	41	6019	c.5881G>A	c.(5881-5883)Gaa>Aaa	p.E1961K	MYH10_ENST00000379980.4_Missense_Mutation_p.E1977K|MYH10_ENST00000360416.3_Missense_Mutation_p.E1992K|MYH10_ENST00000396239.1_Missense_Mutation_p.E1982K|NDEL1_ENST00000299734.7_Intron	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1961					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GTCTTACTTTCTGTGTCATCG	0.582																																																	0													185.0	172.0	177.0					17																	8379172		2203	4300	6503	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5881G>A	17.37:g.8379172C>T	ENSP00000269243:p.Glu1961Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1982K	ENST00000269243.4	37	c.5944	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398430	0.62177	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.86297	-2.07;-2.1;-2.1;-2.08	4.89	4.89	0.63831	.	0.049767	0.85682	D	0.000000	T	0.79986	0.4541	N	0.08118	0	0.58432	D	0.999995	B;P;B	0.36712	0.061;0.566;0.037	B;B;B	0.40825	0.066;0.341;0.028	D	0.83390	0.0017	10	0.72032	D	0.01	.	18.1874	0.89796	0.0:1.0:0.0:0.0	.	1970;1992;1961	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	1961;1992;1982;1977	ENSP00000269243:E1961K;ENSP00000353590:E1992K;ENSP00000379539:E1982K;ENSP00000369315:E1977K	ENSP00000269243:E1961K	E	-	1	0	MYH10	8319897	1.000000	0.71417	0.972000	0.41901	0.819000	0.46315	7.177000	0.77650	2.681000	0.91329	0.655000	0.94253	GAA	MYH10	-	NULL		0.582	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	C			8379172	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	missense	SNP	1.000	T
MYH10	4628	genome.wustl.edu	37	17	8390882	8390882	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:8390882C>T	ENST00000269243.4	-	34	4960	c.4822G>A	c.(4822-4824)Gag>Aag	p.E1608K	MYH10_ENST00000379980.4_Missense_Mutation_p.E1624K|MYH10_ENST00000360416.3_Missense_Mutation_p.E1639K|MYH10_ENST00000396239.1_Missense_Mutation_p.E1629K	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1608					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGTTTCCTCTCATCCTCCAGC	0.537																																																	0													203.0	205.0	204.0					17																	8390882		2203	4300	6503	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4822G>A	17.37:g.8390882C>T	ENSP00000269243:p.Glu1608Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1629K	ENST00000269243.4	37	c.4885	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.542109	0.96474	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68	5.05	5.05	0.67936	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.96710	0.8926	M	0.93462	3.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97355	0.9966	10	0.87932	D	0	.	18.9576	0.92665	0.0:1.0:0.0:0.0	.	1617;1639;1608	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	1608;1639;1629;1624	ENSP00000269243:E1608K;ENSP00000353590:E1639K;ENSP00000379539:E1629K;ENSP00000369315:E1624K	ENSP00000269243:E1608K	E	-	1	0	MYH10	8331607	1.000000	0.71417	0.988000	0.46212	0.807000	0.45602	7.609000	0.82925	2.789000	0.95967	0.655000	0.94253	GAG	MYH10	-	pfam_Myosin_tail		0.537	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	C			8390882	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	missense	SNP	1.000	T
MYH10	4628	genome.wustl.edu	37	17	8424545	8424545	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:8424545G>A	ENST00000269243.4	-	16	2061	c.1923C>T	c.(1921-1923)tcC>tcT	p.S641S	MYH10_ENST00000379980.4_Silent_p.S657S|MYH10_ENST00000396239.1_Silent_p.S662S|MYH10_ENST00000360416.3_Silent_p.S672S	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	641	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.S641S(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTTATATGCGGAGCCAAAAG	0.468																																																	1	Substitution - coding silent(1)	large_intestine(1)											172.0	164.0	167.0					17																	8424545		2203	4300	6503	SO:0001819	synonymous_variant	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1923C>T	17.37:g.8424545G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S662	ENST00000269243.4	37	c.1986	CCDS11144.1	17																																																																																			MYH10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.468	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	G			8424545	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	silent	SNP	0.029	A
MYH11	4629	genome.wustl.edu	37	16	15814867	15814867	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:15814867C>G	ENST00000300036.5	-	33	4729	c.4620G>C	c.(4618-4620)caG>caC	p.Q1540H	NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.Q1547H|MYH11_ENST00000576790.2_Missense_Mutation_p.Q1540H|MYH11_ENST00000452625.2_Missense_Mutation_p.Q1547H	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1540					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTCCTCCATCTGGGTCTCCA	0.597			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													77.0	75.0	76.0					16																	15814867		2197	4300	6497	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4620G>C	16.37:g.15814867C>G	ENSP00000300036:p.Gln1540His	Somatic		WXS	Illumina HiSeq	Phase_IV	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1547H	ENST00000300036.5	37	c.4641	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527781	0.64860	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	4.97	4.02	0.46733	Myosin tail (1);	0.134561	0.51477	D	0.000099	D	0.85656	0.5747	M	0.84326	2.69	0.58432	D	0.999998	D;D;D;D;D	0.67145	0.996;0.985;0.985;0.985;0.996	D;D;D;D;D	0.67382	0.95;0.95;0.95;0.928;0.951	D	0.85476	0.1176	10	0.87932	D	0	.	6.6711	0.23068	0.0:0.715:0.0:0.285	.	1547;1540;1547;1540;1547	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	H	1540;1540;1547;1547;1547	ENSP00000300036:Q1540H;ENSP00000345136:Q1540H;ENSP00000379616:Q1547H;ENSP00000407821:Q1547H	ENSP00000300036:Q1540H	Q	-	3	2	MYH11	15722368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.246000	0.32803	1.096000	0.41439	0.561000	0.74099	CAG	MYH11	-	pfam_Myosin_tail,superfamily_Prefoldin		0.597	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	C	NM_001040113		15814867	-1	no_errors	ENST00000396324	ensembl	human	known	70_37	missense	SNP	1.000	G
MYH15	22989	genome.wustl.edu	37	3	108107819	108107819	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:108107819G>C	ENST00000273353.3	-	39	5649	c.5593C>G	c.(5593-5595)Cag>Gag	p.Q1865E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1865						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGGAGTACCTGATAGGTCAGC	0.552																																																	0													100.0	105.0	103.0					3																	108107819		1997	4168	6165	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5593C>G	3.37:g.108107819G>C	ENSP00000273353:p.Gln1865Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.Q1865E	ENST00000273353.3	37	c.5593	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.140827	0.97320	.	.	ENSG00000144821	ENST00000273353	T	0.80994	-1.44	5.98	5.98	0.97165	Myosin tail (1);	.	.	.	.	D	0.92675	0.7672	M	0.92367	3.3	0.58432	D	0.999999	D	0.76494	0.999	D	0.91635	0.999	D	0.93448	0.6799	9	0.87932	D	0	.	20.0384	0.97572	0.0:0.0:1.0:0.0	.	1865	Q9Y2K3	MYH15_HUMAN	E	1865	ENSP00000273353:Q1865E	ENSP00000273353:Q1865E	Q	-	1	0	MYH15	109590509	1.000000	0.71417	0.082000	0.20525	0.856000	0.48823	7.703000	0.84585	2.838000	0.97847	0.655000	0.94253	CAG	MYH15	-	pfam_Myosin_tail		0.552	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	G	XM_036988		108107819	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	1.000	C
MYH3	4621	genome.wustl.edu	37	17	10536037	10536037	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:10536037G>A	ENST00000583535.1	-	34	4799	c.4712C>T	c.(4711-4713)tCa>tTa	p.S1571L	MYH3_ENST00000226209.7_Missense_Mutation_p.S1571L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1571					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ATCAATTTCTGATTTCACTTG	0.458																																																	0													202.0	199.0	200.0					17																	10536037		2203	4300	6503	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4712C>T	17.37:g.10536037G>A	ENSP00000464317:p.Ser1571Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1571L	ENST00000583535.1	37	c.4712	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760181	0.69763	.	.	ENSG00000109063	ENST00000226209	T	0.79554	-1.28	5.77	5.77	0.91146	Myosin tail (1);	.	.	.	.	D	0.85444	0.5698	M	0.86953	2.85	0.36243	D	0.853386	B	0.30870	0.298	B	0.32762	0.152	D	0.87606	0.2500	9	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	1571	P11055	MYH3_HUMAN	L	1571	ENSP00000226209:S1571L	ENSP00000226209:S1571L	S	-	2	0	MYH3	10476762	0.298000	0.24417	0.998000	0.56505	0.965000	0.64279	3.039000	0.49791	2.885000	0.99019	0.655000	0.94253	TCA	MYH3	-	pfam_Myosin_tail		0.458	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	G	NM_002470		10536037	-1	no_errors	ENST00000226209	ensembl	human	known	70_37	missense	SNP	0.998	A
MYH7	4625	genome.wustl.edu	37	14	23884898	23884898	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:23884898C>T	ENST00000355349.3	-	35	5259	c.5097G>A	c.(5095-5097)cgG>cgA	p.R1699R	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1699					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCGCCAGCTTCCGGGACCGCT	0.627																																																	0													67.0	64.0	65.0					14																	23884898		2203	4300	6503	SO:0001819	synonymous_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5097G>A	14.37:g.23884898C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1699	ENST00000355349.3	37	c.5097	CCDS9601.1	14																																																																																			MYH7	-	pfam_Myosin_tail		0.627	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	C	NM_000257		23884898	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	silent	SNP	0.999	T
MYL3	4634	genome.wustl.edu	37	3	46900986	46900986	+	Missense_Mutation	SNP	G	G	A	rs143852164		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:46900986G>A	ENST00000395869.1	-	4	511	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C	MYL3_ENST00000292327.4_Missense_Mutation_p.R154C			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	154	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		R -> H (in CMH8; with mid-left ventricular chamber thickening). {ECO:0000269|PubMed:8673105}.		cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|cytosol (GO:0005829)|I band (GO:0031674)|muscle myosin complex (GO:0005859)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|myosin II heavy chain binding (GO:0032038)|structural constituent of muscle (GO:0008307)			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		AGCACGTGGCGAAGCTCAGCA	0.617																																					Melanoma(166;130 1949 2249 18977 46142)												0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	159.0	142.0	148.0		460	4.3	1.0	3	dbSNP_134	148	0,8600		0,0,4300	no	missense	MYL3	NM_000258.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	154/196	46900986	1,13005	2203	4300	6503	SO:0001583	missense	4634				CCDS2746.1	3p	2014-09-17	2006-09-29		ENSG00000160808	ENSG00000160808		"""Myosins / Light chain"", ""EF-hand domain containing"""	7584	protein-coding gene	gene with protein product		160790	"""myosin, light polypeptide 3, alkali; ventricular, skeletal, slow"""			1479618, 2784124	Standard	NM_000258		Approved	CMH8, VLC1, MLC1V, MLC1SB	uc003cql.1	P08590	OTTHUMG00000133516	ENST00000395869.1:c.460C>T	3.37:g.46900986G>A	ENSP00000379210:p.Arg154Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R534|Q9NRS8	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.R154C	ENST00000395869.1	37	c.460	CCDS2746.1	3	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581105	0.65992	2.27E-4	0.0	ENSG00000160808	ENST00000395869;ENST00000292327	D;D	0.87650	-2.28;-2.28	4.26	4.26	0.50523	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94909	0.8354	H	0.95437	3.67	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	D	0.96087	0.9058	10	0.72032	D	0.01	-20.5476	14.5542	0.68089	0.0:0.0:1.0:0.0	.	154	P08590	MYL3_HUMAN	C	154	ENSP00000379210:R154C;ENSP00000292327:R154C	ENSP00000292327:R154C	R	-	1	0	MYL3	46875990	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	5.121000	0.64691	2.380000	0.81148	0.561000	0.74099	CGC	MYL3	-	pfscan_EF_HAND_2		0.617	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL3	HGNC	protein_coding	OTTHUMT00000259165.2	G	NM_000258		46900986	-1	no_errors	ENST00000292327	ensembl	human	known	70_37	missense	SNP	1.000	A
MYO10	4651	genome.wustl.edu	37	5	16818160	16818160	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:16818160G>A	ENST00000513610.1	-	3	691	c.237C>T	c.(235-237)atC>atT	p.I79I	MYO10_ENST00000507288.1_Silent_p.I79I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	79	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGTTATACATGATGGAGCCGC	0.443																																																	0													51.0	52.0	52.0					5																	16818160		1936	4124	6060	SO:0001819	synonymous_variant	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.237C>T	5.37:g.16818160G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.I79	ENST00000513610.1	37	c.237	CCDS54834.1	5																																																																																			MYO10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.443	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	G	NM_012334		16818160	-1	no_errors	ENST00000513610	ensembl	human	known	70_37	silent	SNP	0.995	A
MYO1A	4640	genome.wustl.edu	37	12	57432326	57432326	+	Missense_Mutation	SNP	G	G	A	rs202137133		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:57432326G>A	ENST00000442789.2	-	18	1917	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000544473.1_Missense_Mutation_p.R382W|MYO1A_ENST00000300119.3_Missense_Mutation_p.R544W	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	544	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AACAAGGACCGAAGGAGGGGG	0.537																																																	0													75.0	74.0	74.0					12																	57432326		2203	4300	6503	SO:0001583	missense	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1630C>T	12.37:g.57432326G>A	ENSP00000393392:p.Arg544Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UQD7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R544W	ENST00000442789.2	37	c.1630	CCDS8929.1	12	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721697	0.68959	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.72725	-0.68;-0.68;-0.68	4.94	4.04	0.47022	Myosin head, motor domain (2);	0.715706	0.13568	N	0.378278	T	0.80116	0.4564	M	0.83312	2.635	0.09310	N	0.999998	D	0.71674	0.998	P	0.54210	0.745	T	0.71174	-0.4670	10	0.87932	D	0	.	10.9273	0.47197	0.0:0.0:0.6624:0.3376	.	544	Q9UBC5	MYO1A_HUMAN	W	544;544;382	ENSP00000300119:R544W;ENSP00000393392:R544W;ENSP00000440514:R382W	ENSP00000300119:R544W	R	-	1	2	MYO1A	55718593	0.136000	0.22515	0.909000	0.35828	0.870000	0.49936	2.287000	0.43505	1.202000	0.43218	0.561000	0.74099	CGG	MYO1A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.537	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	HGNC	protein_coding	OTTHUMT00000313833.2	G	NM_005379		57432326	-1	no_errors	ENST00000300119	ensembl	human	known	70_37	missense	SNP	0.447	A
MYO1D	4642	genome.wustl.edu	37	17	30981585	30981585	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:30981585G>C	ENST00000318217.5	-	18	2704	c.2400C>G	c.(2398-2400)gtC>gtG	p.V800V	MYO1D_ENST00000394649.4_Silent_p.V712V|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Silent_p.V800V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	800					early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CCTTTGCCCTGACCTGGGGCA	0.512																																																	0													61.0	60.0	61.0					17																	30981585		2203	4300	6503	SO:0001819	synonymous_variant	4642			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2400C>G	17.37:g.30981585G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8V3|Q8NHP9	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V800	ENST00000318217.5	37	c.2400	CCDS32615.1	17																																																																																			MYO1D	-	NULL		0.512	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1	G			30981585	-1	no_errors	ENST00000318217	ensembl	human	known	70_37	silent	SNP	1.000	C
MYO1E	4643	genome.wustl.edu	37	15	59553670	59553670	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:59553670G>C	ENST00000288235.4	-	3	585	c.186C>G	c.(184-186)ttC>ttG	p.F62L	MYO1E_ENST00000558814.1_Intron	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	62	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GCATCTGCTTGAAAGGGTTGA	0.333																																																	0													138.0	132.0	134.0					15																	59553670		2190	4290	6480	SO:0001583	missense	4643			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.186C>G	15.37:g.59553670G>C	ENSP00000288235:p.Phe62Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14778	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.F62L	ENST00000288235.4	37	c.186	CCDS32254.1	15	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206299	0.79127	.	.	ENSG00000157483	ENST00000288235	D	0.88509	-2.39	5.93	4.07	0.47477	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.94994	0.8380	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94518	0.7724	10	0.87932	D	0	.	9.6578	0.39936	0.2095:0.0:0.7905:0.0	.	62	Q12965	MYO1E_HUMAN	L	62	ENSP00000288235:F62L	ENSP00000288235:F62L	F	-	3	2	MYO1E	57340962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.643000	0.61390	0.849000	0.35215	0.563000	0.77884	TTC	MYO1E	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.333	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1E	HGNC	protein_coding	OTTHUMT00000416024.1	G	NM_004998		59553670	-1	no_errors	ENST00000288235	ensembl	human	known	70_37	missense	SNP	1.000	C
MYO5B	4645	genome.wustl.edu	37	18	47463690	47463690	+	Silent	SNP	C	C	G	rs533990456		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:47463690C>G	ENST00000285039.7	-	15	2129	c.1830G>C	c.(1828-1830)tcG>tcC	p.S610S		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	610	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CGCTGATCTTCGAAGATGACC	0.532																																																	0													90.0	90.0	90.0					18																	47463690		1974	4168	6142	SO:0001819	synonymous_variant	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1830G>C	18.37:g.47463690C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S610	ENST00000285039.7	37	c.1830	CCDS42436.1	18																																																																																			MYO5B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.532	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	C			47463690	-1	no_errors	ENST00000285039	ensembl	human	known	70_37	silent	SNP	0.173	G
MYO6	4646	genome.wustl.edu	37	6	76589832	76589832	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:76589832G>C	ENST00000369977.3	+	22	2420	c.2281G>C	c.(2281-2283)Ggc>Cgc	p.G761R	MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369985.4_Missense_Mutation_p.G761R|MYO6_ENST00000369975.1_Missense_Mutation_p.G761R|MYO6_ENST00000369981.3_Missense_Mutation_p.G761R	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	761	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTTTAGACCTGGCAAGGTAAA	0.254																																																	0													26.0	29.0	28.0					6																	76589832		2189	4283	6472	SO:0001583	missense	4646			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2281G>C	6.37:g.76589832G>C	ENSP00000358994:p.Gly761Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.G761R	ENST00000369977.3	37	c.2281	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856654	0.91433	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.88020	0.6325	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.89161	0.3530	10	0.87932	D	0	.	20.0022	0.97423	0.0:0.0:1.0:0.0	.	761;761	Q9UM54-2;Q9UM54-1	.;.	R	761	ENSP00000358998:G761R;ENSP00000359002:G761R;ENSP00000358994:G761R;ENSP00000358992:G761R	ENSP00000358992:G761R	G	+	1	0	MYO6	76646552	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.201000	0.95017	2.738000	0.93877	0.655000	0.94253	GGC	MYO6	-	smart_Myosin_head_motor_dom		0.254	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2	G	NM_004999		76589832	+1	no_errors	ENST00000369981	ensembl	human	known	70_37	missense	SNP	1.000	C
MYO9A	4649	genome.wustl.edu	37	15	72313282	72313282	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:72313282C>G	ENST00000356056.5	-	5	1547	c.1075G>C	c.(1075-1077)Gag>Cag	p.E359Q	RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000424560.1_Missense_Mutation_p.E359Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.E359Q|MYO9A_ENST00000564571.1_Missense_Mutation_p.E359Q|MYO9A_ENST00000566885.1_5'UTR|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	359	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGATATTCCTCTGGTTGCTTA	0.353																																																	0													120.0	111.0	114.0					15																	72313282		2199	4297	6496	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.1075G>C	15.37:g.72313282C>G	ENSP00000348349:p.Glu359Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.E359Q	ENST00000356056.5	37	c.1075	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820427	0.90873	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	T;T;T	0.73047	-0.71;-0.71;-0.71	5.85	5.85	0.93711	Myosin head, motor domain (2);	.	.	.	.	T	0.66906	0.2837	L	0.35288	1.05	0.80722	D	1	B;B;B	0.21520	0.001;0.057;0.051	B;B;B	0.32149	0.014;0.06;0.141	T	0.59894	-0.7368	9	0.33940	T	0.23	.	19.76	0.96311	0.0:1.0:0.0:0.0	.	359;359;359	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	Q	359	ENSP00000348349:E359Q;ENSP00000399162:E359Q;ENSP00000398250:E359Q	ENSP00000261864:E359Q	E	-	1	0	MYO9A	70100336	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.387000	0.66243	2.753000	0.94483	0.655000	0.94253	GAG	MYO9A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.353	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	C	NM_006901		72313282	-1	no_errors	ENST00000424560	ensembl	human	known	70_37	missense	SNP	1.000	G
MYO9B	4650	genome.wustl.edu	37	19	17305930	17305930	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:17305930G>C	ENST00000594824.1	+	22	3841	c.3694G>C	c.(3694-3696)Gaa>Caa	p.E1232Q	MYO9B_ENST00000595618.1_Missense_Mutation_p.E1232Q|MYO9B_ENST00000397274.2_Missense_Mutation_p.E1232Q			Q13459	MYO9B_HUMAN	myosin IXB	1232	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CAAGGTCTCTGAAGAAACTGA	0.617																																																	0													24.0	31.0	29.0					19																	17305930		1968	4158	6126	SO:0001583	missense	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.3694G>C	19.37:g.17305930G>C	ENSP00000471367:p.Glu1232Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.E1232Q	ENST00000594824.1	37	c.3694		19	.	.	.	.	.	.	.	.	.	.	G	7.013	0.557108	0.13436	.	.	ENSG00000099331	ENST00000397274	D	0.84660	-1.88	5.52	-2.4	0.06583	.	1.608250	0.04039	N	0.302722	T	0.66247	0.2770	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.08055	0.001;0.001;0.003	T	0.53585	-0.8418	10	0.14252	T	0.57	.	3.8967	0.09143	0.1398:0.3535:0.3856:0.1211	.	1232;1232;1238	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	Q	1232	ENSP00000380444:E1232Q	ENSP00000380444:E1232Q	E	+	1	0	MYO9B	17166930	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.038000	0.12144	-0.536000	0.06298	-1.331000	0.01271	GAA	MYO9B	-	NULL		0.617	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	G			17305930	+1	no_errors	ENST00000594824	ensembl	human	known	70_37	missense	SNP	0.000	C
MYOC	4653	genome.wustl.edu	37	1	171605066	171605066	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:171605066C>T	ENST00000037502.6	-	3	1585	c.1514G>A	c.(1513-1515)tGa>tAa	p.*505*		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	0					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGAGGCTTTTCACATCTTGGA	0.552																																																	0													66.0	62.0	63.0					1																	171605066		2203	4300	6503	SO:0001819	synonymous_variant	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.1514G>A	1.37:g.171605066C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD84|O00620|Q7Z6Q9	Silent	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.*505	ENST00000037502.6	37	c.1514	CCDS1297.1	1																																																																																			MYOC	-	NULL		0.552	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	HGNC	protein_coding	OTTHUMT00000084178.2	C	NM_000261		171605066	-1	no_errors	ENST00000037502	ensembl	human	known	70_37	silent	SNP	0.674	T
MYOC	4653	genome.wustl.edu	37	1	171621560	171621560	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:171621560C>G	ENST00000037502.6	-	1	263	c.192G>C	c.(190-192)caG>caC	p.Q64H		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	64					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGGCCTGGCTCTGCTCTGGGC	0.582																																																	0													121.0	94.0	103.0					1																	171621560		2203	4300	6503	SO:0001583	missense	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.192G>C	1.37:g.171621560C>G	ENSP00000037502:p.Gln64His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.Q64H	ENST00000037502.6	37	c.192	CCDS1297.1	1	.	.	.	.	.	.	.	.	.	.	C	4.045	0.006070	0.07866	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000537133	T	0.59502	0.26	5.31	1.07	0.20283	.	1.214530	0.05508	N	0.559745	T	0.27489	0.0675	L	0.44542	1.39	0.09310	N	1	P;P	0.36837	0.511;0.571	B;B	0.34242	0.135;0.178	T	0.25152	-1.0140	10	0.45353	T	0.12	.	7.1497	0.25604	0.1253:0.6533:0.0:0.2214	.	64;64	B4DV44;Q99972	.;MYOC_HUMAN	H	64	ENSP00000037502:Q64H	ENSP00000037502:Q64H	Q	-	3	2	MYOC	169888183	0.001000	0.12720	0.791000	0.31998	0.111000	0.19643	-0.282000	0.08445	0.067000	0.16545	-1.731000	0.00696	CAG	MYOC	-	NULL		0.582	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	HGNC	protein_coding	OTTHUMT00000084178.2	C	NM_000261		171621560	-1	no_errors	ENST00000037502	ensembl	human	known	70_37	missense	SNP	0.035	G
MYPN	84665	genome.wustl.edu	37	10	69957140	69957140	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:69957140G>C	ENST00000358913.5	+	16	3678	c.3190G>C	c.(3190-3192)Gag>Cag	p.E1064Q	MYPN_ENST00000540630.1_Missense_Mutation_p.E1064Q|MYPN_ENST00000354393.2_Missense_Mutation_p.E789Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1064	Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAGAGACAAAGAGCCCCTACA	0.443																																																	0													115.0	117.0	116.0					10																	69957140		2203	4300	6503	SO:0001583	missense	84665			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3190G>C	10.37:g.69957140G>C	ENSP00000351790:p.Glu1064Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E1064Q	ENST00000358913.5	37	c.3190	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.140304	0.94560	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.60299	0.2;0.28;0.25	5.16	5.16	0.70880	.	0.117866	0.56097	D	0.000032	T	0.73999	0.3659	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.983;0.983;0.995	T	0.73347	-0.4011	9	.	.	.	.	18.6276	0.91347	0.0:0.0:1.0:0.0	.	1064;789;1064	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	Q	789;789;1064;1064	ENSP00000346369:E789Q;ENSP00000351790:E1064Q;ENSP00000441668:E1064Q	.	E	+	1	0	MYPN	69627146	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.770000	0.98971	2.403000	0.81681	0.655000	0.94253	GAG	MYPN	-	NULL		0.443	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	G	NM_032578		69957140	+1	no_errors	ENST00000358913	ensembl	human	known	70_37	missense	SNP	1.000	C
MYOF	26509	genome.wustl.edu	37	10	95111499	95111499	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:95111499C>G	ENST00000359263.4	-	33	3585	c.3586G>C	c.(3586-3588)Gaa>Caa	p.E1196Q	MYOF_ENST00000371502.4_Missense_Mutation_p.E1196Q|MYOF_ENST00000358334.5_Missense_Mutation_p.E1183Q|MYOF_ENST00000371501.4_Missense_Mutation_p.E1196Q	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1196	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCATAGATTTCAACTTCATCG	0.408																																																	0													116.0	113.0	114.0					10																	95111499		1824	4083	5907	SO:0001583	missense	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3586G>C	10.37:g.95111499C>G	ENSP00000352208:p.Glu1196Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.E1196Q	ENST00000359263.4	37	c.3586	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832852	0.91036	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.77	5.77	0.91146	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.049801	0.85682	D	0.000000	T	0.79592	0.4472	L	0.60845	1.875	0.80722	D	1	P;D	0.61080	0.843;0.989	P;D	0.67231	0.668;0.95	T	0.76963	-0.2764	10	0.41790	T	0.15	-27.9773	19.9826	0.97334	0.0:1.0:0.0:0.0	.	1183;1196	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	Q	1183;1196;1196;1196	ENSP00000351094:E1183Q;ENSP00000352208:E1196Q;ENSP00000360556:E1196Q;ENSP00000360557:E1196Q	ENSP00000351094:E1183Q	E	-	1	0	MYOF	95101489	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	7.818000	0.86416	2.734000	0.93682	0.650000	0.86243	GAA	MYOF	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.408	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	C	NM_013451		95111499	-1	no_errors	ENST00000359263	ensembl	human	known	70_37	missense	SNP	1.000	G
MZF1	7593	genome.wustl.edu	37	19	59074078	59074078	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:59074078G>T	ENST00000215057.2	-	6	2126	c.1566C>A	c.(1564-1566)ttC>ttA	p.F522L	MZF1_ENST00000599369.1_Missense_Mutation_p.F522L|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	522					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		AGCGGCGGCCGAAGCGCTCGC	0.721																																																	0													2.0	3.0	3.0					19																	59074078		1674	3366	5040	SO:0001583	missense	7593			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1566C>A	19.37:g.59074078G>T	ENSP00000215057:p.Phe522Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.F522L	ENST00000215057.2	37	c.1566	CCDS12988.1	19	.	.	.	.	.	.	.	.	.	.	.	19.78	3.890917	0.72524	.	.	ENSG00000099326	ENST00000215057	T	0.41065	1.01	3.57	-0.896	0.10557	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.194139	0.25549	N	0.029907	T	0.61236	0.2331	M	0.89658	3.05	0.33527	D	0.593156	D	0.89917	1.0	D	0.64144	0.922	T	0.68864	-0.5296	10	0.87932	D	0	-15.4041	7.5608	0.27849	0.3975:0.0:0.6025:0.0	.	522	P28698	MZF1_HUMAN	L	522	ENSP00000215057:F522L	ENSP00000215057:F522L	F	-	3	2	MZF1	63765890	0.031000	0.19500	0.994000	0.49952	0.759000	0.43091	0.717000	0.25851	-0.072000	0.12864	-0.379000	0.06801	TTC	MZF1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.721	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MZF1	HGNC	protein_coding	OTTHUMT00000467112.1	G	NM_198055		59074078	-1	no_errors	ENST00000215057	ensembl	human	known	70_37	missense	SNP	0.997	T
N4BP1	9683	genome.wustl.edu	37	16	48595284	48595284	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:48595284C>T	ENST00000262384.3	-	2	1506	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	424					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GGAGTGGAATCAGTTGTAAGC	0.373																																																	0													83.0	77.0	79.0					16																	48595284		1853	4099	5952	SO:0001583	missense	9683			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1270G>A	16.37:g.48595284C>T	ENSP00000262384:p.Asp424Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD49|Q2YDX1	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.D424N	ENST00000262384.3	37	c.1270	CCDS45479.1	16	.	.	.	.	.	.	.	.	.	.	C	2.273	-0.366438	0.05069	.	.	ENSG00000102921	ENST00000262384	T	0.41758	0.99	5.96	3.7	0.42460	.	0.505560	0.20877	N	0.084076	T	0.24005	0.0581	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13629	-1.0502	10	0.38643	T	0.18	-9.0385	10.0146	0.42008	0.0:0.7759:0.0:0.2241	.	424	O75113	N4BP1_HUMAN	N	424	ENSP00000262384:D424N	ENSP00000262384:D424N	D	-	1	0	N4BP1	47152785	0.001000	0.12720	0.079000	0.20413	0.338000	0.28826	0.320000	0.19540	1.535000	0.49220	0.655000	0.94253	GAT	N4BP1	-	NULL		0.373	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP1	HGNC	protein_coding	OTTHUMT00000429920.1	C	NM_014664		48595284	-1	no_errors	ENST00000262384	ensembl	human	known	70_37	missense	SNP	0.001	T
NAA25	80018	genome.wustl.edu	37	12	112486241	112486241	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:112486241C>G	ENST00000261745.4	-	16	1983	c.1735G>C	c.(1735-1737)Gaa>Caa	p.E579Q		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	579						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ATAATATATTCTGAGGTCTGA	0.363																																																	0													87.0	86.0	87.0					12																	112486241		2203	4300	6503	SO:0001583	missense	80018			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1735G>C	12.37:g.112486241C>G	ENSP00000261745:p.Glu579Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.E579Q	ENST00000261745.4	37	c.1735	CCDS9159.1	12	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422185	0.83559	.	.	ENSG00000111300	ENST00000261745	T	0.48522	0.81	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68477	-0.5398	10	0.45353	T	0.12	-15.6721	19.5841	0.95484	0.0:1.0:0.0:0.0	.	579;579	A8K8X0;Q14CX7	.;NAA25_HUMAN	Q	579	ENSP00000261745:E579Q	ENSP00000261745:E579Q	E	-	1	0	NAA25	110970624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.604000	0.88044	0.655000	0.94253	GAA	NAA25	-	pfam_N-acetylTrfase_B_cplx_non-cat		0.363	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	C	NM_024953		112486241	-1	no_errors	ENST00000261745	ensembl	human	known	70_37	missense	SNP	1.000	G
NAA25	80018	genome.wustl.edu	37	12	112499082	112499082	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:112499082C>G	ENST00000261745.4	-	12	1508	c.1260G>C	c.(1258-1260)ctG>ctC	p.L420L	RP1-267L14.3_ENST00000551125.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	420						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GTAACCTCGTCAGCTGCACCA	0.463																																																	0													115.0	101.0	106.0					12																	112499082		2203	4300	6503	SO:0001819	synonymous_variant	80018			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1260G>C	12.37:g.112499082C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.L420	ENST00000261745.4	37	c.1260	CCDS9159.1	12																																																																																			NAA25	-	pfam_N-acetylTrfase_B_cplx_non-cat		0.463	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	C	NM_024953		112499082	-1	no_errors	ENST00000261745	ensembl	human	known	70_37	silent	SNP	1.000	G
NAA25	80018	genome.wustl.edu	37	12	112530885	112530885	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:112530885C>T	ENST00000261745.4	-	2	362	c.114G>A	c.(112-114)ttG>ttA	p.L38L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	38						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TATGTTTCTTCAACAGTTTAT	0.313																																																	0													139.0	122.0	128.0					12																	112530885		2202	4300	6502	SO:0001819	synonymous_variant	80018			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.114G>A	12.37:g.112530885C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.L38	ENST00000261745.4	37	c.114	CCDS9159.1	12																																																																																			NAA25	-	pfscan_TPR-contain_dom		0.313	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	C	NM_024953		112530885	-1	no_errors	ENST00000261745	ensembl	human	known	70_37	silent	SNP	1.000	T
NADSYN1	55191	genome.wustl.edu	37	11	71185636	71185636	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:71185636C>G	ENST00000319023.2	+	9	986				NADSYN1_ENST00000539574.1_5'Flank	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1						NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GCTCCTGGCTCTCCCCTGTAA	0.637																																					Ovarian(79;763 1781 6490 50276)												0																																										SO:0001627	intron_variant	55191			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.798+64C>G	11.37:g.71185636C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.L288V	ENST00000319023.2	37	c.862	CCDS8201.1	11																																																																																			NADSYN1	-	pfscan_C-N_Hydrolase		0.637	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NADSYN1	HGNC	protein_coding	OTTHUMT00000394356.1	C	NM_018161		71185636	+1	no_errors	ENST00000528509	ensembl	human	known	70_37	missense	SNP	0.001	G
NADSYN1	55191	genome.wustl.edu	37	11	71212397	71212397	+	Nonstop_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:71212397G>C	ENST00000319023.2	+	21	2308	c.2120G>C	c.(2119-2121)tGa>tCa	p.*707S	NADSYN1_ENST00000539574.1_Nonstop_Mutation_p.*447S|NADSYN1_ENST00000530055.1_Nonstop_Mutation_p.*336S	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	0					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GGCGTGGACTGAGGCCGGTTC	0.637																																					Ovarian(79;763 1781 6490 50276)												0													44.0	35.0	38.0					11																	71212397		2200	4293	6493	SO:0001578	stop_lost	55191			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.2120G>C	11.37:g.71212397G>C	ENSP00000326424:p.*707Serext*26	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Nonstop_Mutation	SNP	pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase	p.*707S	ENST00000319023.2	37	c.2120	CCDS8201.1	11	.	.	.	.	.	.	.	.	.	.	g	6.231	0.410677	0.11812	.	.	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000530055	.	.	.	2.6	2.6	0.31112	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8444	0.35162	0.0:0.0:1.0:0.0	.	.	.	.	S	707;447;336	.	.	X	+	2	2	NADSYN1	70890045	0.542000	0.26426	0.659000	0.29680	0.031000	0.12232	0.925000	0.28791	1.776000	0.52262	0.467000	0.42956	TGA	NADSYN1	-	NULL		0.637	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NADSYN1	HGNC	protein_coding	OTTHUMT00000394356.1	G	NM_018161		71212397	+1	no_errors	ENST00000319023	ensembl	human	known	70_37	nonstop	SNP	0.702	C
NANP	140838	genome.wustl.edu	37	20	25597140	25597140	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:25597140G>C	ENST00000304788.3	-	2	394	c.168C>G	c.(166-168)ctC>ctG	p.L56L		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	56					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate biosynthetic process (GO:0046380)		N-acylneuraminate-9-phosphatase activity (GO:0050124)			endometrium(2)|lung(2)|prostate(1)	5						ATTCCTTGCTGAGTTTAACTT	0.338																																																	0													64.0	60.0	62.0					20																	25597140		2203	4300	6503	SO:0001819	synonymous_variant	140838			AL031673	CCDS13173.1	20p11.1	2006-10-24	2006-01-24	2006-01-24	ENSG00000170191	ENSG00000170191			16140	protein-coding gene	gene with protein product		610763	"""chromosome 20 open reading frame 147"", ""haloacid dehalogenase-like hydrolase domain containing 4"""	C20orf147, HDHD4		16237198	Standard	NM_152667		Approved	dJ694B14.3, MGC26833	uc002wuy.3	Q8TBE9	OTTHUMG00000032132	ENST00000304788.3:c.168C>G	20.37:g.25597140G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KP12|Q5JYN8|Q8TE97|Q9Y3N0	Silent	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_hydro_IA_CTE7,tigrfam_HAD-SF_hydro_IA_v1	p.L56	ENST00000304788.3	37	c.168	CCDS13173.1	20																																																																																			NANP	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_CTE7		0.338	NANP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANP	HGNC	protein_coding	OTTHUMT00000078457.2	G	NM_152667		25597140	-1	no_errors	ENST00000304788	ensembl	human	known	70_37	silent	SNP	1.000	C
MROH6	642475	genome.wustl.edu	37	8	144657483	144657483	+	5'Flank	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:144657483C>G	ENST00000398882.3	-	0	0				RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000426292.3_Missense_Mutation_p.E442Q|NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000276844.7_Missense_Mutation_p.E442Q|NAPRT1_ENST00000449291.2_Missense_Mutation_p.E442Q|NAPRT1_ENST00000435154.3_Missense_Mutation_p.E442Q	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6																		ACTGGCTCTTCTGCTAACTGC	0.652																																																	0													51.0	53.0	52.0					8																	144657483		2203	4300	6503	SO:0001631	upstream_gene_variant	93100			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164		8.37:g.144657483C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MWB1	Missense_Mutation	SNP	pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-rel,tigrfam_Nic_PRibTrfase_put	p.E442Q	ENST00000398882.3	37	c.1324	CCDS47928.1	8	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568940	0.28003	.	.	ENSG00000147813	ENST00000435154;ENST00000449291;ENST00000340490;ENST00000426292;ENST00000276844	T;T;T;T;T	0.47528	0.86;0.87;0.84;0.86;0.86	4.67	4.67	0.58626	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.404849	0.27768	N	0.017927	T	0.47432	0.1445	L	0.38175	1.15	0.26519	N	0.974459	P;P;P;P	0.47910	0.842;0.886;0.902;0.842	B;P;P;B	0.51895	0.236;0.683;0.498;0.236	T	0.40813	-0.9543	10	0.52906	T	0.07	-15.7903	10.5355	0.45002	0.0:0.9076:0.0:0.0924	.	442;442;442;442	C9J8U2;G5E977;Q6XQN6-3;Q6XQN6	.;.;.;PNCB_HUMAN	Q	442	ENSP00000405670:E442Q;ENSP00000401508:E442Q;ENSP00000341136:E442Q;ENSP00000390949:E442Q;ENSP00000276844:E442Q	ENSP00000276844:E442Q	E	-	1	0	NAPRT1	144728626	0.001000	0.12720	0.996000	0.52242	0.067000	0.16453	0.817000	0.27281	2.431000	0.82371	0.650000	0.86243	GAA	NAPRT1	-	superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-rel,tigrfam_Nic_PRibTrfase_put		0.652	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPRT1	HGNC	protein_coding	OTTHUMT00000382330.3	C	NM_001100878		144657483	-1	no_errors	ENST00000276844	ensembl	human	known	70_37	missense	SNP	0.994	G
NARFL	64428	genome.wustl.edu	37	16	780302	780302	+	3'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:780302C>G	ENST00000251588.2	-	0	1562				NARFL_ENST00000540986.1_3'UTR|NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000568545.1_3'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like						hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				CTACTCGGGTCCCAGCACACC	0.647																																																	0																																										SO:0001624	3_prime_UTR_variant	64428			AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.*115G>C	16.37:g.780302C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	RNA	SNP	-	NULL	ENST00000251588.2	37	NULL	CCDS10425.1	16																																																																																			NARFL	-	-		0.647	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARFL	HGNC	protein_coding	OTTHUMT00000242855.1	C	NM_022493		780302	-1	no_errors	ENST00000562862	ensembl	human	known	70_37	rna	SNP	0.000	G
NAT16	375607	genome.wustl.edu	37	7	100816784	100816784	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:100816784C>G	ENST00000300303.2	-	3	568	c.330G>C	c.(328-330)gtG>gtC	p.V110V	NAT16_ENST00000455377.1_Silent_p.V110V	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	110	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)										CGATCACGTTCACCGACTCCA	0.736																																																	0													20.0	21.0	21.0					7																	100816784		2196	4290	6486	SO:0001819	synonymous_variant	375607			AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.330G>C	7.37:g.100816784C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRS2|Q8NDR1	Silent	SNP	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.V110	ENST00000300303.2	37	c.330	CCDS5713.1	7																																																																																			NAT16	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.736	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT16	HGNC	protein_coding	OTTHUMT00000347465.1	C	NM_198571		100816784	-1	no_errors	ENST00000300303	ensembl	human	known	70_37	silent	SNP	0.224	G
NAV1	89796	genome.wustl.edu	37	1	201779862	201779862	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:201779862C>T	ENST00000367296.4	+	24	5193	c.4773C>T	c.(4771-4773)ttC>ttT	p.F1591F	NAV1_ENST00000367295.1_Silent_p.F1197F|NAV1_ENST00000367297.4_Silent_p.F1583F|NAV1_ENST00000367300.3_Silent_p.F1531F|NAV1_ENST00000367302.1_Silent_p.F1544F|IPO9-AS1_ENST00000413035.1_RNA|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000295624.6_Silent_p.F1588F	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1591					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCAGCACCTTCAACATGCACC	0.637																																																	0													73.0	60.0	65.0					1																	201779862		2203	4300	6503	SO:0001819	synonymous_variant	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4773C>T	1.37:g.201779862C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	smart_AAA+_ATPase	p.F1591	ENST00000367296.4	37	c.4773	CCDS1414.2	1																																																																																			NAV1	-	smart_AAA+_ATPase		0.637	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	C	NM_020443		201779862	+1	no_errors	ENST00000367296	ensembl	human	known	70_37	silent	SNP	1.000	T
NAV2	89797	genome.wustl.edu	37	11	20101720	20101720	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:20101720G>C	ENST00000396087.3	+	27	5557	c.5458G>C	c.(5458-5460)Gag>Cag	p.E1820Q	NAV2_ENST00000349880.4_Missense_Mutation_p.E1764Q|NAV2_ENST00000311043.8_Missense_Mutation_p.E828Q|NAV2_ENST00000527559.2_Missense_Mutation_p.E1749Q|NAV2_ENST00000533917.1_Missense_Mutation_p.E828Q|NAV2_ENST00000360655.4_Missense_Mutation_p.E1700Q|NAV2_ENST00000540292.1_Missense_Mutation_p.E1751Q|NAV2_ENST00000396085.1_Missense_Mutation_p.E1764Q	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1820					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CAGCAACATAGAGAGTGACTC	0.577																																																	0													70.0	65.0	66.0					11																	20101720		2203	4300	6503	SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5458G>C	11.37:g.20101720G>C	ENSP00000379396:p.Glu1820Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.E1820Q	ENST00000396087.3	37	c.5458	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.334118	0.95758	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	D;D;D;D;D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31	5.39	5.39	0.77823	.	0.181277	0.38605	N	0.001635	D	0.93556	0.7943	L	0.32530	0.975	0.58432	D	0.999999	P;D;P;P;P;P	0.54772	0.928;0.968;0.867;0.893;0.913;0.787	P;B;B;P;P;B	0.57620	0.672;0.345;0.288;0.543;0.824;0.438	D	0.92487	0.5997	9	.	.	.	.	19.17	0.93574	0.0:0.0:1.0:0.0	.	1764;1820;828;813;1764;1700	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	Q	1700;1764;1764;1820;1749;1751;828;813;828;813	ENSP00000353871:E1700Q;ENSP00000379394:E1764Q;ENSP00000309577:E1764Q;ENSP00000379396:E1820Q;ENSP00000435395:E1749Q;ENSP00000443489:E1751Q;ENSP00000437316:E828Q;ENSP00000437136:E813Q;ENSP00000312169:E828Q	.	E	+	1	0	NAV2	20058296	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.869000	0.99810	2.521000	0.84997	0.557000	0.71058	GAG	NAV2	-	NULL		0.577	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	G	NM_145117		20101720	+1	no_errors	ENST00000396087	ensembl	human	known	70_37	missense	SNP	1.000	C
NAV3	89795	genome.wustl.edu	37	12	78513722	78513722	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:78513722G>A	ENST00000397909.2	+	15	3919	c.3746G>A	c.(3745-3747)cGa>cAa	p.R1249Q	NAV3_ENST00000228327.6_Missense_Mutation_p.R1249Q|NAV3_ENST00000536525.2_Missense_Mutation_p.R1249Q|NAV3_ENST00000266692.7_Missense_Mutation_p.R1249Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1249	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCACATTTCGAAGGTAAGGA	0.403										HNSCC(70;0.22)																																							0													40.0	39.0	39.0					12																	78513722		1848	4105	5953	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3746G>A	12.37:g.78513722G>A	ENSP00000381007:p.Arg1249Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R1249Q	ENST00000397909.2	37	c.3746		12	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642734	0.87859	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.30714	1.52;1.52;1.53;1.52	5.31	4.42	0.53409	.	0.000000	0.32671	U	0.005798	T	0.52549	0.1741	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.993	D;D;D;P	0.83275	0.973;0.996;0.994;0.691	T	0.57201	-0.7852	10	0.87932	D	0	-9.0085	15.9836	0.80130	0.0:0.1351:0.8649:0.0	.	1249;1249;1249;1249	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	Q	1249	ENSP00000446132:R1249Q;ENSP00000381007:R1249Q;ENSP00000228327:R1249Q;ENSP00000266692:R1249Q	ENSP00000228327:R1249Q	R	+	2	0	NAV3	77037853	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.526000	0.98042	1.226000	0.43582	0.655000	0.94253	CGA	NAV3	-	NULL		0.403	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78513722	+1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	A
NCALD	83988	genome.wustl.edu	37	8	102731624	102731624	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:102731624C>T	ENST00000311028.3	-	5	612	c.234G>A	c.(232-234)ggG>ggA	p.G78G	NCALD_ENST00000519508.2_Silent_p.G78G|NCALD_ENST00000522951.1_Silent_p.G78G|NCALD_ENST00000220931.6_Silent_p.G78G|NCALD_ENST00000395923.1_Silent_p.G78G|NCALD_ENST00000521599.1_Silent_p.G78G	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	78	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			AGTCTATTGTCCCATCTCCAT	0.458																																																	0													152.0	150.0	151.0					8																	102731624		2203	4300	6503	SO:0001819	synonymous_variant	83988			AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"""EF-hand domain containing"""	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.234G>A	8.37:g.102731624C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P29554|Q8IYC3|Q9H0W2	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.G78	ENST00000311028.3	37	c.234	CCDS6292.1	8																																																																																			NCALD	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin		0.458	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NCALD	HGNC	protein_coding	OTTHUMT00000380732.2	C			102731624	-1	no_errors	ENST00000311028	ensembl	human	known	70_37	silent	SNP	1.000	T
NCAM1	4684	genome.wustl.edu	37	11	113143755	113143755	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:113143755C>G	ENST00000397957.4	+	19	2667				NCAM1-AS1_ENST00000526229.1_RNA|NCAM1_ENST00000316851.7_Intron|NCAM1-AS1_ENST00000533638.1_RNA			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGCCACTGCTCAGAACAGCCC	0.617																																																	0																																										SO:0001627	intron_variant	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000397957.4:c.2667+1157C>G	11.37:g.113143755C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh	p.Q725E	ENST00000397957.4	37	c.2173		11	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502170	0.64298	.	.	ENSG00000149294	ENST00000531044	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	T	0.40932	0.1137	.	.	.	0.80722	D	1	P	0.44690	0.841	B	0.28916	0.096	T	0.50906	-0.8772	7	0.51188	T	0.08	.	18.0952	0.89487	0.0:1.0:0.0:0.0	.	725	E9PLH7	.	E	725	.	ENSP00000433345:Q725E	Q	+	1	0	NCAM1	112648965	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.507000	0.66999	2.508000	0.84585	0.655000	0.94253	CAG	NCAM1	-	NULL		0.617	NCAM1-001	KNOWN	basic	processed_transcript	NCAM1	HGNC	protein_coding	OTTHUMT00000393677.2	C	NM_000615		113143755	+1	no_errors	ENST00000531044	ensembl	human	putative	70_37	missense	SNP	1.000	G
NCAM1	4684	genome.wustl.edu	37	11	113144009	113144009	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:113144009C>T	ENST00000397957.4	+	19	2667				NCAM1-AS1_ENST00000526229.1_RNA|NCAM1_ENST00000316851.7_Intron|NCAM1-AS1_ENST00000533638.1_RNA			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GGGCTGTCCTCAGCCCAAGCG	0.667																																																	0																																										SO:0001627	intron_variant	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000397957.4:c.2667+1411C>T	11.37:g.113144009C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	RNA	SNP	-	NULL	ENST00000397957.4	37	NULL		11																																																																																			NCAM1	-	-		0.667	NCAM1-001	KNOWN	basic	processed_transcript	NCAM1	HGNC	protein_coding	OTTHUMT00000393677.2	C	NM_000615		113144009	+1	no_errors	ENST00000528158	ensembl	human	putative	70_37	rna	SNP	1.000	T
NCAN	1463	genome.wustl.edu	37	19	19339343	19339343	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:19339343G>C	ENST00000252575.6	+	8	3013	c.2914G>C	c.(2914-2916)Gag>Cag	p.E972Q	NCAN_ENST00000538881.1_Missense_Mutation_p.E423Q	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	972					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CTTCGAACTGGAGGTCCTGGC	0.647																																																	0													69.0	75.0	73.0					19																	19339343		2203	4300	6503	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2914G>C	19.37:g.19339343G>C	ENSP00000252575:p.Glu972Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UPK6	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.E972Q	ENST00000252575.6	37	c.2914	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	G	1.731	-0.494054	0.04322	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.85773	-1.86;-2.03	3.76	1.56	0.23342	.	0.794069	0.10671	N	0.647508	T	0.63581	0.2523	N	0.08118	0	0.09310	N	1	P;B	0.39480	0.675;0.158	B;B	0.34824	0.19;0.017	T	0.54853	-0.8231	10	0.14656	T	0.56	.	4.6181	0.12437	0.1282:0.2286:0.6431:0.0	.	986;972	Q4LE67;O14594	.;NCAN_HUMAN	Q	986;972;423	ENSP00000252575:E972Q;ENSP00000442202:E423Q	ENSP00000252575:E972Q	E	+	1	0	NCAN	19200343	0.874000	0.30092	0.046000	0.18839	0.058000	0.15608	1.180000	0.32005	0.533000	0.28675	0.491000	0.48974	GAG	NCAN	-	NULL		0.647	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	G	NM_004386		19339343	+1	no_errors	ENST00000252575	ensembl	human	known	70_37	missense	SNP	0.050	C
NCLN	56926	genome.wustl.edu	37	19	3186080	3186080	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:3186080C>G	ENST00000246117.4	+	1	483	c.52C>G	c.(52-54)Ctg>Gtg	p.L18V	NCLN_ENST00000590671.1_Intron	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	18					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGTCTTGTCTGCCGCTCGG	0.726																																																	0													48.0	35.0	39.0					19																	3186080		2203	4300	6503	SO:0001583	missense	56926			BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"""nicastrin-like protein"""	609156	"""nicalin homolog (zebrafish)"""			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.52C>G	19.37:g.3186080C>G	ENSP00000246117:p.Leu18Val	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Nicastrin,pirsf_Nicalin	p.L18V	ENST00000246117.4	37	c.52	CCDS32869.1	19	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515894	0.44763	.	.	ENSG00000125912	ENST00000246117	T	0.33438	1.41	4.34	4.34	0.51931	.	0.370001	0.28062	N	0.016758	T	0.28067	0.0692	L	0.48642	1.525	0.33765	D	0.622336	B	0.15141	0.012	B	0.15052	0.012	T	0.32613	-0.9900	10	0.34782	T	0.22	-1.6961	13.5949	0.61984	0.0:1.0:0.0:0.0	.	18	Q969V3	NCLN_HUMAN	V	18	ENSP00000246117:L18V	ENSP00000246117:L18V	L	+	1	2	NCLN	3137080	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	4.220000	0.58567	1.974000	0.57490	0.561000	0.74099	CTG	NCLN	-	pirsf_Nicalin		0.726	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCLN	HGNC	protein_coding	OTTHUMT00000452545.1	C	NM_020170		3186080	+1	no_errors	ENST00000246117	ensembl	human	known	70_37	missense	SNP	1.000	G
NCAN	1463	genome.wustl.edu	37	19	19351423	19351423	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:19351423G>C	ENST00000252575.6	+	12	3520	c.3421G>C	c.(3421-3423)Gaa>Caa	p.E1141Q	NCAN_ENST00000538881.1_Missense_Mutation_p.E592Q	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1141	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CTTTGGGCATGAAAACACGTG	0.637																																																	0													134.0	100.0	111.0					19																	19351423		2203	4300	6503	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3421G>C	19.37:g.19351423G>C	ENSP00000252575:p.Glu1141Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UPK6	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.E1141Q	ENST00000252575.6	37	c.3421	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	g	21.0	4.087694	0.76642	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	T;T	0.19532	2.14;2.14	3.98	3.98	0.46160	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.35677	N	0.003042	T	0.37758	0.1015	L	0.46741	1.465	0.48236	D	0.999613	D	0.89917	1.0	D	0.72982	0.979	T	0.18366	-1.0339	10	0.66056	D	0.02	-15.6674	13.6121	0.62086	0.0:0.0:1.0:0.0	.	1141	O14594	NCAN_HUMAN	Q	1155;1141;592	ENSP00000252575:E1141Q;ENSP00000442202:E592Q	ENSP00000252575:E1141Q	E	+	1	0	NCAN	19212423	1.000000	0.71417	0.990000	0.47175	0.881000	0.50899	6.336000	0.72954	2.060000	0.61445	0.289000	0.19496	GAA	NCAN	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.637	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	G	NM_004386		19351423	+1	no_errors	ENST00000252575	ensembl	human	known	70_37	missense	SNP	1.000	C
NCOA2	10499	genome.wustl.edu	37	8	71036975	71036975	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:71036975G>C	ENST00000452400.2	-	20	4223	c.4042C>G	c.(4042-4044)Cag>Gag	p.Q1348E	NCOA2_ENST00000267974.4_Missense_Mutation_p.Q436E	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1348					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.Q1348*(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GAGGGGGCCTGATAGGCTGGG	0.552			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																			Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	1	Substitution - Nonsense(1)	endometrium(1)											87.0	98.0	94.0					8																	71036975		1994	4177	6171	SO:0001583	missense	10499			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.4042C>G	8.37:g.71036975G>C	ENSP00000399968:p.Gln1348Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CD2	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom	p.Q1348E	ENST00000452400.2	37	c.4042	CCDS47872.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.001297|5.001297	0.93227|0.93227	.|.	.|.	ENSG00000140396|ENSG00000140396	ENST00000518363|ENST00000452400;ENST00000267974	.|T;T	.|0.10763	.|4.0;2.84	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.054647	.|0.85682	.|D	.|0.000000	T|T	0.32823|0.32823	0.0842|0.0842	L|L	0.57536|0.57536	1.79|1.79	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.76494	.|0.999;0.986	.|D;D	.|0.80764	.|0.994;0.968	T|T	0.00603|0.00603	-1.1649|-1.1649	5|10	.|0.72032	.|D	.|0.01	.|.	20.0685|20.0685	0.97708|0.97708	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|436;1348	.|F8WAJ2;Q15596	.|.;NCOA2_HUMAN	M|E	448|1348;436	.|ENSP00000399968:Q1348E;ENSP00000267974:Q436E	.|ENSP00000267974:Q436E	I|Q	-|-	3|1	3|0	NCOA2|NCOA2	71199529|71199529	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	9.472000|9.472000	0.97709|0.97709	2.735000|2.735000	0.93741|0.93741	0.650000|0.650000	0.86243|0.86243	ATC|CAG	NCOA2	-	pirsf_Nuclear_rcpt_coactivator		0.552	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA2	HGNC	protein_coding	OTTHUMT00000379696.1	G			71036975	-1	no_errors	ENST00000452400	ensembl	human	known	70_37	missense	SNP	1.000	C
NCOR2	9612	genome.wustl.edu	37	12	124821712	124821712	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:124821712G>A	ENST00000405201.1	-	38	5702	c.5702C>T	c.(5701-5703)tCc>tTc	p.S1901F	NCOR2_ENST00000404621.1_Missense_Mutation_p.S1891F|NCOR2_ENST00000429285.2_Missense_Mutation_p.S1891F|NCOR2_ENST00000356219.3_Missense_Mutation_p.S1908F|NCOR2_ENST00000404121.2_Missense_Mutation_p.S1462F|NCOR2_ENST00000397355.1_Missense_Mutation_p.S1892F			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1912					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AACGGGTGAGGAGGTGGAGGT	0.662																																																	0													13.0	18.0	16.0					12																	124821712		1950	3997	5947	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5702C>T	12.37:g.124821712G>A	ENSP00000384018:p.Ser1901Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S1908F	ENST00000405201.1	37	c.5723	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	g	15.93	2.979424	0.53827	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.21932	1.98;2.24;1.98;2.24;1.98;2.24	4.36	4.36	0.52297	.	0.448517	0.19783	U	0.106180	T	0.27967	0.0689	N	0.19112	0.55	0.48185	D	0.999605	D;D;D	0.60575	0.98;0.988;0.98	P;P;P	0.57548	0.649;0.809;0.823	T	0.14504	-1.0470	10	0.62326	D	0.03	-36.4859	16.894	0.86095	0.0:0.0:1.0:0.0	.	1892;1901;1912	C9J239;C9JFD3;Q9Y618	.;.;NCOR2_HUMAN	F	1901;1891;1908;1892;1900;1462;1891	ENSP00000384018:S1901F;ENSP00000384202:S1891F;ENSP00000348551:S1908F;ENSP00000380513:S1892F;ENSP00000385618:S1462F;ENSP00000400281:S1891F	ENSP00000348551:S1908F	S	-	2	0	NCOR2	123387665	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.800000	0.85949	1.958000	0.56883	0.556000	0.70494	TCC	NCOR2	-	NULL		0.662	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	G	NM_006312		124821712	-1	no_errors	ENST00000356219	ensembl	human	known	70_37	missense	SNP	1.000	A
NCOR2	9612	genome.wustl.edu	37	12	124862910	124862910	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:124862910C>T	ENST00000405201.1	-	18	2040	c.2040G>A	c.(2038-2040)cgG>cgA	p.R680R	NCOR2_ENST00000404621.1_Silent_p.R679R|NCOR2_ENST00000429285.2_Silent_p.R679R|NCOR2_ENST00000356219.3_Silent_p.R680R|NCOR2_ENST00000404121.2_Silent_p.R250R|NCOR2_ENST00000397355.1_Silent_p.R680R			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	680					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTTCTTCCTCCGCGCGTTCC	0.682																																																	0													30.0	35.0	33.0					12																	124862910		1943	4125	6068	SO:0001819	synonymous_variant	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2040G>A	12.37:g.124862910C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R680	ENST00000405201.1	37	c.2040	CCDS41858.2	12																																																																																			NCOR2	-	NULL		0.682	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	C	NM_006312		124862910	-1	no_errors	ENST00000356219	ensembl	human	known	70_37	silent	SNP	0.974	T
NCR2	9436	genome.wustl.edu	37	6	41318486	41318486	+	Missense_Mutation	SNP	C	C	G	rs142822107		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:41318486C>G	ENST00000373089.5	+	5	803	c.715C>G	c.(715-717)Caa>Gaa	p.Q239E	NCR2_ENST00000373083.4_3'UTR|NCR2_ENST00000373086.3_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	239					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CTGCCaccttcaacaggtcac	0.493																																																	0													108.0	97.0	101.0					6																	41318486		2203	4300	6503	SO:0001583	missense	9436			AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.715C>G	6.37:g.41318486C>G	ENSP00000362181:p.Gln239Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.Q239E	ENST00000373089.5	37	c.715	CCDS4855.1	6	.	.	.	.	.	.	.	.	.	.	C	6.904	0.536384	0.13188	.	.	ENSG00000096264	ENST00000373089	T	0.14266	2.52	2.37	-2.15	0.07102	.	.	.	.	.	T	0.02083	0.0065	N	0.19112	0.55	0.09310	N	1	B	0.28850	0.225	B	0.23275	0.045	T	0.42849	-0.9427	9	0.87932	D	0	.	4.1763	0.10353	0.5831:0.2821:0.0:0.1348	.	239	O95944	NCTR2_HUMAN	E	239	ENSP00000362181:Q239E	ENSP00000362181:Q239E	Q	+	1	0	NCR2	41426464	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.749000	0.04813	-0.611000	0.05709	0.655000	0.94253	CAA	NCR2	-	NULL		0.493	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR2	HGNC	protein_coding	OTTHUMT00000040511.3	C			41318486	+1	no_errors	ENST00000373089	ensembl	human	known	70_37	missense	SNP	0.000	G
NDST4	64579	genome.wustl.edu	37	4	115749027	115749027	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:115749027C>T	ENST00000264363.2	-	14	3242	c.2564G>A	c.(2563-2565)aGa>aAa	p.R855K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	855	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTGTCCCAGTCTGTGTAGCAG	0.423																																																	0													109.0	106.0	107.0					4																	115749027		2203	4299	6502	SO:0001583	missense	64579			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2564G>A	4.37:g.115749027C>T	ENSP00000264363:p.Arg855Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2KHM8	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.R855K	ENST00000264363.2	37	c.2564	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	C	11.16	1.555935	0.27827	.	.	ENSG00000138653	ENST00000264363	T	0.55413	0.52	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.40862	0.1134	L	0.28608	0.87	0.52099	D	0.99994	B	0.09022	0.002	B	0.17722	0.019	T	0.34153	-0.9840	10	0.06365	T	0.9	.	18.7903	0.91971	0.0:1.0:0.0:0.0	.	855	Q9H3R1	NDST4_HUMAN	K	855	ENSP00000264363:R855K	ENSP00000264363:R855K	R	-	2	0	NDST4	115968476	0.932000	0.31603	0.472000	0.27241	0.954000	0.61252	7.387000	0.79785	2.446000	0.82766	0.544000	0.68410	AGA	NDST4	-	NULL		0.423	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	C	NM_022569		115749027	-1	no_errors	ENST00000264363	ensembl	human	known	70_37	missense	SNP	1.000	T
NDST3	9348	genome.wustl.edu	37	4	119026190	119026190	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:119026190G>C	ENST00000296499.5	+	3	1402	c.999G>C	c.(997-999)caG>caC	p.Q333H	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	333	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TTGATACTCAGAATCTTTTGC	0.318																																																	0													121.0	132.0	128.0					4																	119026190		2203	4300	6503	SO:0001583	missense	9348			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.999G>C	4.37:g.119026190G>C	ENSP00000296499:p.Gln333His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.Q333H	ENST00000296499.5	37	c.999	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417183	0.62511	.	.	ENSG00000164100	ENST00000296499	T	0.52295	0.67	5.18	2.46	0.29980	.	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	M	0.87269	2.87	0.80722	D	1	P	0.49447	0.924	P	0.61722	0.893	T	0.67665	-0.5612	10	0.87932	D	0	.	8.5409	0.33393	0.1417:0.1254:0.7328:0.0	.	333	O95803	NDST3_HUMAN	H	333	ENSP00000296499:Q333H	ENSP00000296499:Q333H	Q	+	3	2	NDST3	119245638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.918000	0.56432	0.560000	0.29169	0.557000	0.71058	CAG	NDST3	-	pfam_Heparan_SO4_deacetylase		0.318	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	G	NM_004784		119026190	+1	no_errors	ENST00000296499	ensembl	human	known	70_37	missense	SNP	1.000	C
NDUFAF5	79133	genome.wustl.edu	37	20	13797029	13797029	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:13797029G>A	ENST00000378106.5	+	9	897				NDUFAF5_ENST00000463598.1_Intron|NDUFAF5_ENST00000475968.1_Intron	NM_024120.4	NP_077025.2	Q5TEU4	NDUF5_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5						mitochondrial respiratory chain complex I assembly (GO:0032981)	extrinsic component of mitochondrial inner membrane (GO:0031314)	methyltransferase activity (GO:0008168)										ACTGTTAGATGAGACGGGATT	0.393																																																	0																																										SO:0001627	intron_variant	79133				CCDS13118.1, CCDS33441.1	20p12.1	2012-10-12	2012-05-08	2012-05-08	ENSG00000101247	ENSG00000101247		"""Mitochondrial respiratory chain complex assembly factors"""	15899	protein-coding gene	gene with protein product		612360	"""chromosome 20 open reading frame 7"""	C20orf7		18940309, 21607760	Standard	NM_024120		Approved	dJ842G6.1	uc002wom.3	Q5TEU4	OTTHUMG00000031909	ENST00000378106.5:c.779-80G>A	20.37:g.13797029G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K166|Q6GPH3|Q9H6F4	RNA	SNP	-	NULL	ENST00000378106.5	37	NULL	CCDS13118.1	20																																																																																			NDUFAF5	-	-		0.393	NDUFAF5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF5	HGNC	protein_coding	OTTHUMT00000078057.2	G	NM_001039375		13797029	+1	no_errors	ENST00000479682	ensembl	human	known	70_37	rna	SNP	0.000	A
NEB	4703	genome.wustl.edu	37	2	152375533	152375533	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:152375533C>T	ENST00000172853.10	-	127	17685	c.17538G>A	c.(17536-17538)atG>atA	p.M5846I	NEB_ENST00000604864.1_Missense_Mutation_p.M7547I|NEB_ENST00000427231.2_Missense_Mutation_p.M7547I|NEB_ENST00000603639.1_Missense_Mutation_p.M7547I|NEB_ENST00000397345.3_Missense_Mutation_p.M7547I|NEB_ENST00000409198.1_Missense_Mutation_p.M5846I			P20929	NEBU_HUMAN	nebulin	5846					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGACTCCTTCATGTCAGTCA	0.418																																																	0			GRCh37	CD991810	NEB	D							152.0	141.0	145.0					2																	152375533		1900	4111	6011	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17538G>A	2.37:g.152375533C>T	ENSP00000172853:p.Met5846Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.M7547I	ENST00000172853.10	37	c.22641		2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769910	0.90020	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.06371	3.43;3.41;3.42;3.31;3.43	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.24044	0.0582	M	0.65975	2.015	0.80722	D	1	D;D;P	0.56521	0.96;0.976;0.888	D;D;P	0.75484	0.968;0.986;0.746	T	0.01464	-1.1348	10	0.15499	T	0.54	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	5846;7547;2277	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	I	5846;7547;7547;1895;2277;5846	ENSP00000386259:M5846I;ENSP00000380505:M7547I;ENSP00000416578:M7547I;ENSP00000410961:M2277I;ENSP00000172853:M5846I	ENSP00000172853:M5846I	M	-	3	0	NEB	152083779	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	ATG	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.418	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152375533	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	T
NEB	4703	genome.wustl.edu	37	2	152375560	152375560	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:152375560C>G	ENST00000172853.10	-	127	17658	c.17511G>C	c.(17509-17511)aaG>aaC	p.K5837N	NEB_ENST00000604864.1_Missense_Mutation_p.K7538N|NEB_ENST00000427231.2_Missense_Mutation_p.K7538N|NEB_ENST00000603639.1_Missense_Mutation_p.K7538N|NEB_ENST00000397345.3_Missense_Mutation_p.K7538N|NEB_ENST00000409198.1_Missense_Mutation_p.K5837N			P20929	NEBU_HUMAN	nebulin	5837					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTGAAGTTTCTTCAGGTCAG	0.413																																																	0													137.0	128.0	131.0					2																	152375560		1906	4110	6016	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17511G>C	2.37:g.152375560C>G	ENSP00000172853:p.Lys5837Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.K7538N	ENST00000172853.10	37	c.22614		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.548964|4.548964	0.86127|0.86127	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853|ENST00000434685	T;T;T;T;T|.	0.08193|.	3.27;3.25;3.26;3.12;3.27|.	5.91|5.91	5.04|5.04	0.67666|0.67666	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60843|0.60843	0.2300|0.2300	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.997|.	D;D;D|.	0.91635|.	0.998;0.999;0.989|.	T|T	0.58070|0.58070	-0.7701|-0.7701	10|5	0.48119|.	T|.	0.1|.	.|.	15.0877|15.0877	0.72167|0.72167	0.0:0.9322:0.0:0.0678|0.0:0.9322:0.0:0.0678	.|.	5837;7538;2268|.	P20929;F8WCP0;Q14215|.	NEBU_HUMAN;.;.|.	N|T	5837;7538;7538;1886;2268;5837|161	ENSP00000386259:K5837N;ENSP00000380505:K7538N;ENSP00000416578:K7538N;ENSP00000410961:K2268N;ENSP00000172853:K5837N|.	ENSP00000172853:K5837N|.	K|R	-|-	3|2	2|0	NEB|NEB	152083806|152083806	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	3.355000|3.355000	0.52262|0.52262	1.508000|1.508000	0.48769|0.48769	0.655000|0.655000	0.94253|0.94253	AAG|AGA	NEB	-	smart_Nebulin_35r-motif		0.413	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152375560	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	G
NEB	4703	genome.wustl.edu	37	2	152472557	152472557	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:152472557G>C	ENST00000172853.10	-	72	10666	c.10519C>G	c.(10519-10521)Cca>Gca	p.P3507A	NEB_ENST00000604864.1_Missense_Mutation_p.P3750A|NEB_ENST00000427231.2_Missense_Mutation_p.P3750A|NEB_ENST00000603639.1_Missense_Mutation_p.P3750A|NEB_ENST00000397345.3_Missense_Mutation_p.P3750A|NEB_ENST00000409198.1_Missense_Mutation_p.P3507A			P20929	NEBU_HUMAN	nebulin	3507					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTTGGATTGGAATGGCATCC	0.383																																																	0													73.0	73.0	73.0					2																	152472557		1856	4100	5956	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10519C>G	2.37:g.152472557G>C	ENSP00000172853:p.Pro3507Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.P3750A	ENST00000172853.10	37	c.11248		2	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681453	0.68042	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.25	5.25	0.73442	.	0.130978	0.53938	D	0.000058	T	0.60945	0.2308	M	0.90082	3.085	0.80722	D	1	B	0.19200	0.034	B	0.28305	0.088	T	0.62492	-0.6843	10	0.40728	T	0.16	.	17.9894	0.89164	0.0:0.0:1.0:0.0	.	3507	P20929	NEBU_HUMAN	A	3507;3750;3750;3507	ENSP00000386259:P3507A;ENSP00000380505:P3750A;ENSP00000416578:P3750A;ENSP00000172853:P3507A	ENSP00000172853:P3507A	P	-	1	0	NEB	152180803	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.377000	0.52425	2.602000	0.87976	0.650000	0.86243	CCA	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.383	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152472557	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	C
NEB	4703	genome.wustl.edu	37	2	152499129	152499129	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:152499129G>C	ENST00000172853.10	-	60	8479	c.8332C>G	c.(8332-8334)Cct>Gct	p.P2778A	NEB_ENST00000604864.1_Missense_Mutation_p.P2778A|NEB_ENST00000427231.2_Missense_Mutation_p.P2778A|NEB_ENST00000603639.1_Missense_Mutation_p.P2778A|NEB_ENST00000397345.3_Missense_Mutation_p.P2778A|NEB_ENST00000409198.1_Missense_Mutation_p.P2778A			P20929	NEBU_HUMAN	nebulin	2778					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCTTGATAGGAATGGCATCT	0.378																																																	0													84.0	82.0	83.0					2																	152499129		1888	4110	5998	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8332C>G	2.37:g.152499129G>C	ENSP00000172853:p.Pro2778Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.P2778A	ENST00000172853.10	37	c.8332		2	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163943	0.57476	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.47177	0.85;3.46;3.46;0.85	6.17	6.17	0.99709	.	0.056605	0.64402	D	0.000001	T	0.66538	0.2799	M	0.82630	2.6	0.80722	D	1	P	0.46220	0.874	P	0.57620	0.824	T	0.63954	-0.6520	10	0.33940	T	0.23	.	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	2778	P20929	NEBU_HUMAN	A	2778	ENSP00000386259:P2778A;ENSP00000380505:P2778A;ENSP00000416578:P2778A;ENSP00000172853:P2778A	ENSP00000172853:P2778A	P	-	1	0	NEB	152207375	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.950000	0.40323	2.941000	0.99782	0.655000	0.94253	CCT	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.378	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152499129	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	C
NEB	4703	genome.wustl.edu	37	2	152544883	152544883	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:152544883C>T	ENST00000172853.10	-	25	2485	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	NEB_ENST00000604864.1_Missense_Mutation_p.E780K|NEB_ENST00000427231.2_Missense_Mutation_p.E780K|NEB_ENST00000603639.1_Missense_Mutation_p.E780K|NEB_ENST00000397345.3_Missense_Mutation_p.E780K|NEB_ENST00000409198.1_Missense_Mutation_p.E780K			P20929	NEBU_HUMAN	nebulin	780					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGAACTTCTCACCTTCATGT	0.388																																																	0													153.0	146.0	148.0					2																	152544883		1915	4129	6044	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2338G>A	2.37:g.152544883C>T	ENSP00000172853:p.Glu780Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.E780K	ENST00000172853.10	37	c.2338		2	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925311	0.73213	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05786	3.4;3.41;3.41;3.39	5.71	5.71	0.89125	.	0.325658	0.28828	N	0.014003	T	0.10078	0.0247	L	0.51422	1.61	0.80722	D	1	P	0.51449	0.945	P	0.47528	0.549	T	0.16276	-1.0408	10	0.07030	T	0.85	.	16.7855	0.85573	0.0:1.0:0.0:0.0	.	780	P20929	NEBU_HUMAN	K	780	ENSP00000386259:E780K;ENSP00000380505:E780K;ENSP00000416578:E780K;ENSP00000172853:E780K	ENSP00000172853:E780K	E	-	1	0	NEB	152253129	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.529000	0.53532	2.689000	0.91719	0.563000	0.77884	GAG	NEB	-	pfscan_Nebulin_35r-motif		0.388	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152544883	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	T
NEB	4703	genome.wustl.edu	37	2	152581994	152581994	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:152581994G>C	ENST00000172853.10	-	6	522	c.375C>G	c.(373-375)atC>atG	p.I125M	NEB_ENST00000604864.1_Missense_Mutation_p.I125M|NEB_ENST00000427231.2_Missense_Mutation_p.I125M|NEB_ENST00000603639.1_Missense_Mutation_p.I125M|NEB_ENST00000397345.3_Missense_Mutation_p.I125M|NEB_ENST00000409198.1_Missense_Mutation_p.I125M			P20929	NEBU_HUMAN	nebulin	125					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTACTTTTTTGATTCTGCGAA	0.398																																																	0													207.0	206.0	206.0					2																	152581994		1914	4116	6030	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.375C>G	2.37:g.152581994G>C	ENSP00000172853:p.Ile125Met	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.I125M	ENST00000172853.10	37	c.375		2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092932	0.76756	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	6.17	6.17	0.99709	.	0.054849	0.64402	D	0.000001	T	0.61800	0.2376	L	0.53780	1.695	0.80722	D	1	P	0.51240	0.943	D	0.64410	0.925	T	0.55755	-0.8091	10	0.37606	T	0.19	.	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	125	P20929	NEBU_HUMAN	M	125	ENSP00000386259:I125M;ENSP00000380505:I125M;ENSP00000416578:I125M;ENSP00000172853:I125M	ENSP00000172853:I125M	I	-	3	3	NEB	152290240	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.181000	0.65054	2.941000	0.99782	0.655000	0.94253	ATC	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.398	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152581994	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	C
NEFH	4744	genome.wustl.edu	37	22	29879471	29879471	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:29879471G>C	ENST00000310624.6	+	2	1024	c.991G>C	c.(991-993)Gag>Cag	p.E331Q		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	331	Coil 2B.|Rod.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CAGGACCACAGAGCTGGAGGC	0.617																																																	0													112.0	94.0	100.0					22																	29879471		2203	4300	6503	SO:0001583	missense	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.991G>C	22.37:g.29879471G>C	ENSP00000311997:p.Glu331Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	pfam_F,pfam_DUF1388	p.E331Q	ENST00000310624.6	37	c.991	CCDS13858.1	22	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356385	0.61293	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.91894	-2.93	5.3	5.3	0.74995	Filament (1);	0.000000	0.49305	D	0.000144	D	0.94377	0.8192	L	0.60957	1.885	0.50813	D	0.999897	D	0.67145	0.996	D	0.64042	0.921	D	0.94504	0.7712	10	0.87932	D	0	.	14.7229	0.69320	0.0:0.1444:0.8556:0.0	.	331	P12036	NFH_HUMAN	Q	331	ENSP00000311997:E331Q	ENSP00000311997:E331Q	E	+	1	0	NEFH	28209471	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.681000	0.84073	2.761000	0.94854	0.650000	0.86243	GAG	NEFH	-	pfam_F		0.617	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2	G	NM_021076		29879471	+1	no_errors	ENST00000310624	ensembl	human	known	70_37	missense	SNP	1.000	C
NEIL1	79661	genome.wustl.edu	37	15	75641330	75641330	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:75641330G>A	ENST00000564784.1	+	3	713	c.84G>A	c.(82-84)gaG>gaA	p.E28E	NEIL1_ENST00000355059.4_Silent_p.E28E|NEIL1_ENST00000569035.1_Silent_p.E28E|NEIL1_ENST00000567959.1_Intron			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	28					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						GCTGCGTGGAGAAGTCCTCTG	0.652								Base excision repair (BER), DNA glycosylases																																									0													41.0	39.0	40.0					15																	75641330		2197	4294	6491	SO:0001819	synonymous_variant	79661			AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.84G>A	15.37:g.75641330G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Silent	SNP	pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat	p.E28	ENST00000564784.1	37	c.84	CCDS10278.1	15																																																																																			NEIL1	-	pfam_DNA_glycosylase/AP_lyase_cat,superfamily_DNA_glycosylase/AP_lyase_cat,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat		0.652	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL1	HGNC	protein_coding	OTTHUMT00000419885.1	G	NM_024608		75641330	+1	no_errors	ENST00000355059	ensembl	human	known	70_37	silent	SNP	1.000	A
NEK10	152110	genome.wustl.edu	37	3	27343240	27343240	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:27343240G>C	ENST00000429845.2	-	14	1477	c.1115C>G	c.(1114-1116)tCa>tGa	p.S372*	NEK10_ENST00000341435.5_Nonsense_Mutation_p.S372*			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	372					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAAGTCTTCTGATAAATGAAG	0.363																																																	0													39.0	35.0	36.0					3																	27343240		1566	3578	5144	SO:0001587	stop_gained	152110			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1115C>G	3.37:g.27343240G>C	ENSP00000395849:p.Ser372*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S372*	ENST00000429845.2	37	c.1115		3	.	.	.	.	.	.	.	.	.	.	G	39	7.676785	0.98428	.	.	ENSG00000163491	ENST00000341435;ENST00000396636	.	.	.	5.07	4.18	0.49190	.	1.007080	0.07975	N	0.984722	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	8.351	0.32303	0.0789:0.0:0.7658:0.1552	.	.	.	.	X	372	.	ENSP00000343847:S372X	S	-	2	0	NEK10	27318244	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	4.180000	0.58296	2.509000	0.84616	0.585000	0.79938	TCA	NEK10	-	superfamily_ARM-type_fold		0.363	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	HGNC	protein_coding	OTTHUMT00000438156.1	G	NM_152534		27343240	-1	no_errors	ENST00000341435	ensembl	human	known	70_37	nonsense	SNP	1.000	C
NEK4	6787	genome.wustl.edu	37	3	52799951	52799951	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52799951G>C	ENST00000233027.5	-	4	820	c.618C>G	c.(616-618)ttC>ttG	p.F206L	NEK4_ENST00000383721.4_Missense_Mutation_p.F206L|NEK4_ENST00000535191.1_Missense_Mutation_p.F117L	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CTTTTGCATTGAAAGCATGCT	0.338																																																	0													89.0	90.0	89.0					3																	52799951		2203	4299	6502	SO:0001583	missense	6787			L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.618C>G	3.37:g.52799951G>C	ENSP00000233027:p.Phe206Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F206L	ENST00000233027.5	37	c.618	CCDS2863.1	3	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183571	0.78677	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.32988	1.43;1.46;1.43;1.46	5.87	3.12	0.35913	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	M	0.87827	2.91	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.60291	-0.7292	10	0.87932	D	0	.	10.4072	0.44272	0.272:0.0:0.728:0.0	.	117;206;206	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	L	206;117;206;117	ENSP00000233027:F206L;ENSP00000437703:F117L;ENSP00000373227:F206L;ENSP00000419666:F117L	ENSP00000233027:F206L	F	-	3	2	NEK4	52774991	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.226000	0.42963	0.392000	0.25172	-0.140000	0.14226	TTC	NEK4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.338	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEK4	HGNC	protein_coding	OTTHUMT00000352386.2	G	NM_003157		52799951	-1	no_errors	ENST00000233027	ensembl	human	known	70_37	missense	SNP	1.000	C
NEK8	284086	genome.wustl.edu	37	17	27064323	27064323	+	Splice_Site	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:27064323G>C	ENST00000268766.6	+	5	652		c.e5-1		AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8						organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGCCTTCACAGAACTTGCCAG	0.567																																					NSCLC(6;19 293 14866 25253 49845)												0													32.0	29.0	30.0					17																	27064323		2203	4300	6503	SO:0001630	splice_region_variant	284086			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.619-1G>C	17.37:g.27064323G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Splice_Site	SNP	-	e5-1	ENST00000268766.6	37	c.619-1	CCDS32597.1	17	.	.	.	.	.	.	.	.	.	.	g	21.1	4.093285	0.76756	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9309	0.92564	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEK8	24088450	1.000000	0.71417	0.998000	0.56505	0.729000	0.41735	9.628000	0.98415	2.710000	0.92621	0.558000	0.71614	.	NEK8	-	-		0.567	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	HGNC	protein_coding	OTTHUMT00000446467.2	G		Intron	27064323	+1	no_errors	ENST00000268766	ensembl	human	known	70_37	splice_site	SNP	1.000	C
NEMF	9147	genome.wustl.edu	37	14	50287124	50287124	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:50287124C>G	ENST00000298310.5	-	16	2027				NEMF_ENST00000545773.1_Intron|NEMF_ENST00000546046.1_Intron|NEMF_ENST00000556925.1_Intron			O60524	NEMF_HUMAN	nuclear export mediator factor						nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GCGTTGTCCTCTGGTCACTGC	0.448																																																	0																																										SO:0001627	intron_variant	9147			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.1577+5460G>C	14.37:g.50287124C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	RNA	SNP	-	NULL	ENST00000298310.5	37	NULL	CCDS9694.1	14																																																																																			NEMF	-	-		0.448	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	C	NM_004713		50287124	-1	no_errors	ENST00000555878	ensembl	human	known	70_37	rna	SNP	0.020	G
NEMF	9147	genome.wustl.edu	37	14	50312863	50312863	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:50312863C>G	ENST00000298310.5	-	4	801	c.352G>C	c.(352-354)Gat>Cat	p.D118H	NEMF_ENST00000545773.1_Intron|NEMF_ENST00000556672.1_Missense_Mutation_p.D118H|AL627171.1_ENST00000358799.1_5'Flank|NEMF_ENST00000546046.1_Missense_Mutation_p.D118H			O60524	NEMF_HUMAN	nuclear export mediator factor	118					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTTACCCTATCATAGAGCTCA	0.333																																																	0													72.0	68.0	69.0					14																	50312863		2203	4300	6503	SO:0001583	missense	9147			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.352G>C	14.37:g.50312863C>G	ENSP00000298310:p.Asp118His	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.D118H	ENST00000298310.5	37	c.352	CCDS9694.1	14	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582771	0.86748	.	.	ENSG00000165525	ENST00000298310;ENST00000546046;ENST00000556672	T;T;T	0.44083	0.93;0.93;0.93	5.29	5.29	0.74685	Fibronectin-binding A, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72011	0.3408	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.988;0.998;1.0	T	0.77199	-0.2675	10	0.52906	T	0.07	-24.3487	18.5202	0.90950	0.0:1.0:0.0:0.0	.	118;118;118	O60524-3;O60524-5;O60524	.;.;NEMF_HUMAN	H	118	ENSP00000298310:D118H;ENSP00000441016:D118H;ENSP00000452174:D118H	ENSP00000298310:D118H	D	-	1	0	NEMF	49382613	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.109000	0.77062	2.473000	0.83533	0.491000	0.48974	GAT	NEMF	-	pfam_Fibro-bd_N		0.333	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	C	NM_004713		50312863	-1	no_errors	ENST00000298310	ensembl	human	known	70_37	missense	SNP	1.000	G
NES	10763	genome.wustl.edu	37	1	156640544	156640544	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:156640544C>G	ENST00000368223.3	-	4	3568	c.3436G>C	c.(3436-3438)Gag>Cag	p.E1146Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1146	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCACCTGCCTCCTCTAGGTCC	0.607																																																	0													67.0	69.0	68.0					1																	156640544		2203	4300	6503	SO:0001583	missense	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3436G>C	1.37:g.156640544C>G	ENSP00000357206:p.Glu1146Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_F	p.E1146Q	ENST00000368223.3	37	c.3436	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602210	0.66445	.	.	ENSG00000132688	ENST00000368223	D	0.90069	-2.61	4.66	4.66	0.58398	.	0.000000	0.34002	N	0.004355	D	0.89584	0.6757	M	0.65498	2.005	0.09310	N	0.999997	D	0.76494	0.999	P	0.61275	0.886	D	0.83870	0.0273	10	0.87932	D	0	.	11.3823	0.49766	0.1813:0.8186:0.0:0.0	.	1146	P48681	NEST_HUMAN	Q	1146	ENSP00000357206:E1146Q	ENSP00000357206:E1146Q	E	-	1	0	NES	154907168	0.002000	0.14202	0.240000	0.24138	0.175000	0.22909	1.587000	0.36622	2.131000	0.65755	0.557000	0.71058	GAG	NES	-	NULL		0.607	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	C	NM_006617		156640544	-1	no_errors	ENST00000368223	ensembl	human	known	70_37	missense	SNP	0.415	G
NES	10763	genome.wustl.edu	37	1	156642887	156642887	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:156642887C>G	ENST00000368223.3	-	4	1225	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	365	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACAGGTGTCTCAAGGGTAGCA	0.617																																																	0													47.0	60.0	55.0					1																	156642887		2203	4300	6503	SO:0001583	missense	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1093G>C	1.37:g.156642887C>G	ENSP00000357206:p.Glu365Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_F	p.E365Q	ENST00000368223.3	37	c.1093	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	C	9.430	1.085260	0.20390	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.86497	-2.13	4.87	-1.4	0.08968	.	0.526148	0.14259	N	0.330956	T	0.69097	0.3073	M	0.64997	1.995	0.09310	N	1	B	0.32781	0.384	B	0.26517	0.07	T	0.63470	-0.6630	10	0.87932	D	0	.	6.5345	0.22346	0.0:0.3847:0.4489:0.1663	.	365	P48681	NEST_HUMAN	Q	365	ENSP00000357206:E365Q	ENSP00000255024:E365Q	E	-	1	0	NES	154909511	0.004000	0.15560	0.092000	0.20876	0.947000	0.59692	0.232000	0.17891	0.040000	0.15660	0.313000	0.20887	GAG	NES	-	NULL		0.617	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	C	NM_006617		156642887	-1	no_errors	ENST00000368223	ensembl	human	known	70_37	missense	SNP	0.001	G
NEU1	4758	genome.wustl.edu	37	6	31830436	31830436	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:31830436G>C	ENST00000375631.4	-	1	247	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	40					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	GAGGCTGCCAGAGACAGCAGC	0.637																																																	0													94.0	63.0	74.0					6																	31830436		1511	2709	4220	SO:0001583	missense	4758			AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.118C>G	6.37:g.31830436G>C	ENSP00000364782:p.Leu40Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_Neuraminidase	p.L40V	ENST00000375631.4	37	c.118	CCDS4723.1	6	.	.	.	.	.	.	.	.	.	.	G	4.192	0.034330	0.08101	.	.	ENSG00000204386	ENST00000375631	D	0.88975	-2.45	4.52	-0.547	0.11836	.	1.326250	0.04851	N	0.442251	T	0.60560	0.2278	L	0.33485	1.01	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.001;0.002	T	0.56318	-0.7999	10	0.02654	T	1	-13.25	6.8434	0.23975	0.1784:0.4947:0.3269:0.0	.	40;40	E9PIF4;Q99519	.;NEUR1_HUMAN	V	40	ENSP00000364782:L40V	ENSP00000364782:L40V	L	-	1	2	NEU1	31938415	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	-0.010000	0.12743	-0.113000	0.11958	-0.176000	0.13171	CTG	NEU1	-	NULL		0.637	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEU1	HGNC	protein_coding	OTTHUMT00000076616.2	G			31830436	-1	no_errors	ENST00000375631	ensembl	human	known	70_37	missense	SNP	0.003	C
NF1	4763	genome.wustl.edu	37	17	29652871	29652871	+	Silent	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:29652871G>T	ENST00000358273.4	+	37	5252	c.4869G>T	c.(4867-4869)ctG>ctT	p.L1623L	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Silent_p.L1602L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1623	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTGATTTGCTGATATACCATG	0.348			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											107.0	105.0	105.0					17																	29652871		2203	4300	6503	SO:0001819	synonymous_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4869G>T	17.37:g.29652871G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.L1623	ENST00000358273.4	37	c.4869	CCDS42292.1	17																																																																																			NF1	-	superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.348	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	G	NM_000267		29652871	+1	no_errors	ENST00000358273	ensembl	human	known	70_37	silent	SNP	1.000	T
NFATC4	4776	genome.wustl.edu	37	14	24842959	24842959	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:24842959G>A	ENST00000250373.4	+	5	1759	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K	NFATC4_ENST00000556759.1_Missense_Mutation_p.E75K|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000424781.2_Missense_Mutation_p.E553K|NFATC4_ENST00000413692.2_Missense_Mutation_p.E603K|NFATC4_ENST00000553879.1_Missense_Mutation_p.E470K|NFATC4_ENST00000554344.1_Missense_Mutation_p.E470K|NFATC4_ENST00000554473.1_Missense_Mutation_p.E75K|NFATC4_ENST00000557451.1_Missense_Mutation_p.E470K|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000554966.1_Missense_Mutation_p.E553K|NFATC4_ENST00000422617.3_Missense_Mutation_p.E528K|NFATC4_ENST00000554591.1_Missense_Mutation_p.E603K|NFATC4_ENST00000555453.1_Missense_Mutation_p.E528K|NFATC4_ENST00000555167.1_Missense_Mutation_p.E75K|NFATC4_ENST00000553708.1_Missense_Mutation_p.E540K|NFATC4_ENST00000556169.1_Missense_Mutation_p.E528K|NFATC4_ENST00000539237.2_Missense_Mutation_p.E572K|NFATC4_ENST00000553469.1_Missense_Mutation_p.E572K|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000554050.1_Missense_Mutation_p.E540K|NFATC4_ENST00000555590.1_Missense_Mutation_p.E553K|NFATC4_ENST00000556279.1_Missense_Mutation_p.E572K|NFATC4_ENST00000554661.1_Missense_Mutation_p.E470K	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	540	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TCGGAAGGGTGAGACGGACAT	0.592																																																	0													106.0	104.0	104.0					14																	24842959		2203	4300	6503	SO:0001583	missense	4776			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1618G>A	14.37:g.24842959G>A	ENSP00000250373:p.Glu540Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.E603K	ENST00000250373.4	37	c.1807	CCDS9629.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.630279	0.96671	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	4.88	4.88	0.63580	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92535	0.7629	M	0.83852	2.665	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.997;0.994;0.999;0.994;0.987;1.0;1.0;1.0;0.999;0.987;0.987;1.0;0.994;0.99	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.989;0.989;0.958;0.993;0.958;0.958;0.997;0.997;0.997;0.995;0.943;0.958;0.998;0.969;0.975	D	0.93493	0.6837	10	0.87932	D	0	-7.1742	15.5774	0.76404	0.0:0.0:1.0:0.0	.	528;528;572;572;553;553;553;603;603;528;470;572;517;603;540	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	K	603;603;553;553;553;572;572;572;540;540;540;470;470;470;528;470;528;528;75;75;75	ENSP00000388910:E603K;ENSP00000452039:E603K;ENSP00000451224:E553K;ENSP00000450644:E553K;ENSP00000388668:E553K;ENSP00000439350:E572K;ENSP00000452270:E572K;ENSP00000451502:E572K;ENSP00000451151:E540K;ENSP00000250373:E540K;ENSP00000450590:E540K;ENSP00000452349:E470K;ENSP00000450469:E470K;ENSP00000450733:E470K;ENSP00000451454:E528K;ENSP00000451284:E470K;ENSP00000396788:E528K;ENSP00000450686:E528K;ENSP00000450810:E75K;ENSP00000451183:E75K;ENSP00000451395:E75K	ENSP00000250373:E540K	E	+	1	0	NFATC4	23912799	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	9.652000	0.98499	2.515000	0.84797	0.655000	0.94253	GAG	NFATC4	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD		0.592	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	G	NM_004554		24842959	+1	no_errors	ENST00000413692	ensembl	human	known	70_37	missense	SNP	1.000	A
NFE2L2	4780	genome.wustl.edu	37	2	178095920	178095920	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:178095920C>G	ENST00000397062.3	-	5	1965	c.1411G>C	c.(1411-1413)Gaa>Caa	p.E471Q	NFE2L2_ENST00000464747.1_Missense_Mutation_p.E455Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E455Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E448Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	471					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ATGATTTTTTCTACAGGGAAT	0.418			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													167.0	150.0	156.0					2																	178095920		1843	4097	5940	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1411G>C	2.37:g.178095920C>G	ENSP00000380252:p.Glu471Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E471Q	ENST00000397062.3	37	c.1411	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327184	0.60743	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38	6.04	6.04	0.98038	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.249108	0.48767	D	0.000174	D	0.95736	0.8613	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.59115	0.795;0.852	D	0.95376	0.8469	10	0.72032	D	0.01	-22.1875	20.5948	0.99439	0.0:1.0:0.0:0.0	.	448;471	E9PGJ7;Q16236	.;NF2L2_HUMAN	Q	455;471;448;199	ENSP00000380253:E455Q;ENSP00000380252:E471Q;ENSP00000411575:E448Q;ENSP00000391590:E199Q	ENSP00000380252:E471Q	E	-	1	0	NFE2L2	177804166	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.928000	0.63447	2.873000	0.98535	0.563000	0.77884	GAA	NFE2L2	-	superfamily_Euk_TF_DNA-bd		0.418	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178095920	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	0.998	G
NFE2L2	4780	genome.wustl.edu	37	2	178096229	178096229	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:178096229C>G	ENST00000397062.3	-	5	1656	c.1102G>C	c.(1102-1104)Gac>Cac	p.D368H	NFE2L2_ENST00000464747.1_Missense_Mutation_p.D352H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D352H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D345H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	368					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AGTAGTGTGTCTCCATAGCTG	0.463			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													155.0	155.0	155.0					2																	178096229		2191	4299	6490	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1102G>C	2.37:g.178096229C>G	ENSP00000380252:p.Asp368His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.D368H	ENST00000397062.3	37	c.1102	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	19.55	3.847883	0.71603	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	T;T;T;T	0.32753	2.14;2.13;2.14;1.44	5.83	5.83	0.93111	.	0.088111	0.85682	D	0.000000	T	0.60090	0.2242	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.62011	-0.6944	10	0.87932	D	0	-19.2781	20.1374	0.98035	0.0:1.0:0.0:0.0	.	345;368	E9PGJ7;Q16236	.;NF2L2_HUMAN	H	352;368;345;96	ENSP00000380253:D352H;ENSP00000380252:D368H;ENSP00000411575:D345H;ENSP00000391590:D96H	ENSP00000380252:D368H	D	-	1	0	NFE2L2	177804475	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.464000	0.60134	2.763000	0.94921	0.563000	0.77884	GAC	NFE2L2	-	superfamily_Serpin_dom		0.463	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178096229	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	G
NFE2L2	4780	genome.wustl.edu	37	2	178096533	178096533	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:178096533C>G	ENST00000397062.3	-	5	1352	c.798G>C	c.(796-798)ttG>ttC	p.L266F	NFE2L2_ENST00000464747.1_Missense_Mutation_p.L250F|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L250F|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L243F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	266					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AGTTCACTGTCAACTGGTTGG	0.418			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													124.0	111.0	115.0					2																	178096533		1910	4145	6055	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.798G>C	2.37:g.178096533C>G	ENSP00000380252:p.Leu266Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.L266F	ENST00000397062.3	37	c.798	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712930	0.30413	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000430047	T;T;T;T;T	0.61274	2.04;2.04;2.05;1.71;0.12	6.17	4.34	0.51931	.	1.084420	0.07083	N	0.837435	T	0.62073	0.2398	M	0.69823	2.125	0.18873	N	0.999987	P;P	0.49961	0.877;0.93	P;P	0.45037	0.467;0.467	T	0.52109	-0.8619	10	0.49607	T	0.09	.	9.2983	0.37829	0.0:0.7786:0.1463:0.0751	.	243;266	E9PGJ7;Q16236	.;NF2L2_HUMAN	F	250;266;243;250;63	ENSP00000380253:L250F;ENSP00000380252:L266F;ENSP00000411575:L243F;ENSP00000400073:L250F;ENSP00000391291:L63F	ENSP00000380252:L266F	L	-	3	2	NFE2L2	177804779	0.111000	0.22076	0.990000	0.47175	0.998000	0.95712	0.760000	0.26475	1.585000	0.49928	0.655000	0.94253	TTG	NFE2L2	-	NULL		0.418	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178096533	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	0.033	G
NFE2L2	4780	genome.wustl.edu	37	2	178097980	178097980	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:178097980C>G	ENST00000397062.3	-	3	954	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	NFE2L2_ENST00000464747.1_Missense_Mutation_p.E118Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E118Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E118Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E118Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	134					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TACCTCACCTCATTGTCATCT	0.368			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													103.0	89.0	94.0					2																	178097980		1838	4097	5935	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.400G>C	2.37:g.178097980C>G	ENSP00000380252:p.Glu134Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E134Q	ENST00000397062.3	37	c.400	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732726	0.89482	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T	0.37058	1.5;1.5;1.99;1.55;1.55;1.22	5.65	5.65	0.86999	.	0.905630	0.09676	N	0.770474	T	0.62696	0.2449	M	0.83953	2.67	0.53688	D	0.999979	D;D;D	0.69078	0.995;0.997;0.995	P;D;D	0.63381	0.886;0.913;0.914	T	0.56438	-0.7979	10	0.46703	T	0.11	.	13.9395	0.64046	0.0:0.9274:0.0:0.0726	.	118;118;134	E9PGJ7;C9JFL6;Q16236	.;.;NF2L2_HUMAN	Q	118;134;118;118;118;118	ENSP00000380253:E118Q;ENSP00000380252:E134Q;ENSP00000411575:E118Q;ENSP00000400073:E118Q;ENSP00000412191:E118Q;ENSP00000410015:E118Q	ENSP00000380252:E134Q	E	-	1	0	NFE2L2	177806226	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.635000	0.46537	2.664000	0.90586	0.491000	0.48974	GAG	NFE2L2	-	NULL		0.368	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178097980	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	G
NFIL3	4783	genome.wustl.edu	37	9	94172030	94172030	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:94172030G>C	ENST00000297689.3	-	2	1381	c.987C>G	c.(985-987)atC>atG	p.I329M		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	329	Necessary for transcriptional repression and sufficient for interaction with DR1.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						CTTTGGCTTTGATCCGGAGCT	0.443																																					Esophageal Squamous(152;732 1832 10053 26981 51762)												0													130.0	128.0	128.0					9																	94172030		2203	4300	6503	SO:0001583	missense	4783			X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.987C>G	9.37:g.94172030G>C	ENSP00000297689:p.Ile329Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	pfam_Vert_IL3-reg_TF,pfam_bZIP,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP	p.I329M	ENST00000297689.3	37	c.987	CCDS6690.1	9	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856182	0.51376	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.97	-2.24	0.06909	Vertebrate interleukin-3 regulated transcription factor (1);	0.000000	0.64402	D	0.000001	T	0.66056	0.2751	M	0.69823	2.125	0.45284	D	0.99828	D	0.89917	1.0	D	0.97110	1.0	T	0.63769	-0.6562	9	0.66056	D	0.02	-26.2514	5.2588	0.15561	0.3983:0.0:0.3818:0.2199	.	329	Q16649	NFIL3_HUMAN	M	329	.	ENSP00000297689:I329M	I	-	3	3	NFIL3	93211851	0.896000	0.30565	0.883000	0.34634	0.922000	0.55478	0.013000	0.13310	-0.271000	0.09272	0.561000	0.74099	ATC	NFIL3	-	pfam_Vert_IL3-reg_TF,pirsf_TF_bZIP_E4BP4		0.443	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIL3	HGNC	protein_coding	OTTHUMT00000053038.2	G	NM_005384		94172030	-1	no_errors	ENST00000297689	ensembl	human	known	70_37	missense	SNP	0.963	C
NFKBIE	4794	genome.wustl.edu	37	6	44233056	44233056	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:44233056C>T	ENST00000275015.5	-	1	444	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	149					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCTCCGCCTCGTCCGGCCCC	0.736																																																	0													5.0	8.0	7.0					6																	44233056		1937	3975	5912	SO:0001583	missense	4794			U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.445G>A	6.37:g.44233056C>T	ENSP00000275015:p.Glu149Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T9V9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E149K	ENST00000275015.5	37	c.445	CCDS34463.1	6	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838138	0.91117	.	.	ENSG00000146232	ENST00000275015	T	0.32023	1.47	4.87	4.87	0.63330	.	0.486350	0.21051	N	0.080992	T	0.11239	0.0274	L	0.32530	0.975	0.35313	D	0.784081	P	0.43352	0.804	B	0.31101	0.124	T	0.08351	-1.0726	10	0.51188	T	0.08	-30.5623	14.725	0.69339	0.0:1.0:0.0:0.0	.	149	O00221	IKBE_HUMAN	K	149	ENSP00000275015:E149K	ENSP00000275015:E149K	E	-	1	0	NFKBIE	44341034	0.996000	0.38824	1.000000	0.80357	0.955000	0.61496	1.499000	0.35671	2.251000	0.74343	0.462000	0.41574	GAG	NFKBIE	-	NULL		0.736	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIE	HGNC	protein_coding	OTTHUMT00000040733.2	C			44233056	-1	no_errors	ENST00000275015	ensembl	human	known	70_37	missense	SNP	0.984	T
NFKBIZ	64332	genome.wustl.edu	37	3	101572421	101572421	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:101572421G>C	ENST00000326172.5	+	5	1166	c.1051G>C	c.(1051-1053)Gag>Cag	p.E351Q	NFKBIZ_ENST00000326151.5_Intron|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.E251Q	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	351	Required for transcriptional activity. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						AAGGGAATCTGAGAATATTGC	0.488																																																	0													121.0	126.0	124.0					3																	101572421		2203	4300	6503	SO:0001583	missense	64332			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1051G>C	3.37:g.101572421G>C	ENSP00000325663:p.Glu351Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E351Q	ENST00000326172.5	37	c.1051	CCDS2946.1	3	.	.	.	.	.	.	.	.	.	.	G	15.43	2.829907	0.50845	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326172	T;T;T	0.56941	0.47;0.43;0.47	5.81	5.81	0.92471	.	0.395089	0.26620	N	0.023375	T	0.59851	0.2224	M	0.64997	1.995	0.42842	D	0.994053	D	0.53151	0.958	P	0.47827	0.558	T	0.60969	-0.7157	10	0.45353	T	0.12	-11.3835	18.2479	0.89993	0.0:0.0:1.0:0.0	.	351	Q9BYH8	IKBZ_HUMAN	Q	251;251;351	ENSP00000419800:E251Q;ENSP00000377618:E251Q;ENSP00000325663:E351Q	ENSP00000325663:E351Q	E	+	1	0	NFKBIZ	103055111	1.000000	0.71417	0.999000	0.59377	0.285000	0.27093	4.932000	0.63476	2.735000	0.93741	0.563000	0.77884	GAG	NFKBIZ	-	NULL		0.488	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKBIZ	HGNC	protein_coding	OTTHUMT00000353793.1	G	NM_031419		101572421	+1	no_errors	ENST00000326172	ensembl	human	known	70_37	missense	SNP	0.980	C
NHS	4810	genome.wustl.edu	37	X	17744156	17744156	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:17744156C>T	ENST00000380060.3	+	6	2205	c.1867C>T	c.(1867-1869)Cag>Tag	p.Q623*	NHS_ENST00000398097.3_Nonsense_Mutation_p.Q467*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	644					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GTGCCCCTCGCAGACCTCAGA	0.577																																																	0													106.0	89.0	95.0					X																	17744156		2203	4300	6503	SO:0001587	stop_gained	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1867C>T	X.37:g.17744156C>T	ENSP00000369400:p.Gln623*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Nonsense_Mutation	SNP	NULL	p.Q623*	ENST00000380060.3	37	c.1867	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	39	7.795721	0.98495	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-14.7718	18.8864	0.92379	0.0:1.0:0.0:0.0	.	.	.	.	X	623;467;465	.	ENSP00000369397:Q465X	Q	+	1	0	NHS	17654077	1.000000	0.71417	0.997000	0.53966	0.648000	0.38561	7.487000	0.81328	2.407000	0.81776	0.600000	0.82982	CAG	NHS	-	NULL		0.577	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	C	NM_198270		17744156	+1	no_errors	ENST00000380060	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NINL	22981	genome.wustl.edu	37	20	25443110	25443110	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:25443110G>C	ENST00000278886.6	-	20	3564	c.3491C>G	c.(3490-3492)tCt>tGt	p.S1164C	NINL_ENST00000422516.1_Missense_Mutation_p.S815C	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1164					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTGGTGGGTAGAAGCCTCCTG	0.493																																																	0													151.0	133.0	139.0					20																	25443110		2203	4300	6503	SO:0001583	missense	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3491C>G	20.37:g.25443110G>C	ENSP00000278886:p.Ser1164Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.S1164C	ENST00000278886.6	37	c.3491	CCDS33452.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.29|12.29	1.894478|1.894478	0.33442|0.33442	.|.	.|.	ENSG00000101004|ENSG00000101004	ENST00000336104|ENST00000278886;ENST00000422516	.|T;T	.|0.36520	.|3.34;1.25	5.17|5.17	4.21|4.21	0.49690|0.49690	.|.	.|0.328576	.|0.28706	.|N	.|0.014406	T|T	0.53899|0.53899	0.1825|0.1825	L|L	0.55481|0.55481	1.735|1.735	0.09310|0.09310	N|N	1|1	.|D;D	.|0.89917	.|1.0;0.997	.|D;D	.|0.72338	.|0.977;0.973	T|T	0.49113|0.49113	-0.8973|-0.8973	5|10	.|0.62326	.|D	.|0.03	-3.0613|-3.0613	14.2569|14.2569	0.66058|0.66058	0.0:0.0:0.8502:0.1498|0.0:0.0:0.8502:0.1498	.|.	.|815;1164	.|Q9Y2I6-2;Q9Y2I6	.|.;NINL_HUMAN	L|C	116|1164;815	.|ENSP00000278886:S1164C;ENSP00000410431:S815C	.|ENSP00000278886:S1164C	F|S	-|-	3|2	2|0	NINL|NINL	25391110|25391110	0.248000|0.248000	0.23930|0.23930	0.007000|0.007000	0.13788|0.13788	0.209000|0.209000	0.24338|0.24338	2.393000|2.393000	0.44442|0.44442	1.405000|1.405000	0.46838|0.46838	0.561000|0.561000	0.74099|0.74099	TTC|TCT	NINL	-	NULL		0.493	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	G	NM_025176		25443110	-1	no_errors	ENST00000278886	ensembl	human	known	70_37	missense	SNP	0.079	C
NIPAL1	152519	genome.wustl.edu	37	4	48037752	48037752	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:48037752G>C	ENST00000295461.5	+	6	862	c.796G>C	c.(796-798)Gaa>Caa	p.E266Q		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	266						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						GGAGCTGATAGAATGGAAGCC	0.403																																																	0													98.0	93.0	95.0					4																	48037752		2203	4300	6503	SO:0001583	missense	152519			BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.796G>C	4.37:g.48037752G>C	ENSP00000295461:p.Glu266Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTB0|Q68DA9	Missense_Mutation	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.E266Q	ENST00000295461.5	37	c.796	CCDS3479.1	4	.	.	.	.	.	.	.	.	.	.	G	3.441	-0.114150	0.06881	.	.	ENSG00000163293	ENST00000295461	D	0.90444	-2.67	5.64	3.86	0.44501	.	0.141476	0.48286	N	0.000193	D	0.85186	0.5639	L	0.38175	1.15	0.09310	N	1	B	0.14805	0.011	B	0.23018	0.043	T	0.69993	-0.4994	9	.	.	.	.	12.5234	0.56073	0.0:0.3311:0.5515:0.1174	.	266	Q6NVV3	NIPA3_HUMAN	Q	266	ENSP00000295461:E266Q	.	E	+	1	0	NIPAL1	47732509	0.989000	0.36119	0.025000	0.17156	0.562000	0.35680	2.956000	0.49129	0.696000	0.31696	0.655000	0.94253	GAA	NIPAL1	-	pfam_Mg_trans_NIPA		0.403	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL1	HGNC	protein_coding	OTTHUMT00000250491.4	G	NM_207330		48037752	+1	no_errors	ENST00000295461	ensembl	human	known	70_37	missense	SNP	0.022	C
NIPBL	25836	genome.wustl.edu	37	5	37038789	37038789	+	Silent	SNP	C	C	G	rs140907869	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:37038789C>G	ENST00000282516.8	+	34	6556	c.6057C>G	c.(6055-6057)ctC>ctG	p.L2019L	NIPBL_ENST00000448238.2_Silent_p.L2019L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2019					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.L2019L(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GACCCCAGCTCATGGTTAAAC	0.353																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											111.0	100.0	104.0					5																	37038789		2203	4300	6503	SO:0001819	synonymous_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6057C>G	5.37:g.37038789C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	superfamily_ARM-type_fold	p.L2019	ENST00000282516.8	37	c.6057	CCDS3920.1	5																																																																																			NIPBL	-	superfamily_ARM-type_fold		0.353	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	C	NM_015384		37038789	+1	no_errors	ENST00000282516	ensembl	human	known	70_37	silent	SNP	0.996	G
NIPBL	25836	genome.wustl.edu	37	5	37063934	37063934	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:37063934G>C	ENST00000282516.8	+	46	8402	c.7903G>C	c.(7903-7905)Gaa>Caa	p.E2635Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.E2635Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2635					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGAAGAAGAAGAAGAAGGGGA	0.388																																																	0			GRCh37	CM041507	NIPBL	M							55.0	52.0	53.0					5																	37063934		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7903G>C	5.37:g.37063934G>C	ENSP00000282516:p.Glu2635Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E2635Q	ENST00000282516.8	37	c.7903	CCDS3920.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.121622|5.121622	0.94385|0.94385	.|.	.|.	ENSG00000164190|ENSG00000164190	ENST00000282516;ENST00000448238|ENST00000513819;ENST00000507919	D;D|T	0.93953|0.80738	-3.32;-3.31|-1.41	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87865|0.87865	0.6285|0.6285	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.997;0.997;0.998|.	D;D;D|.	0.80764|.	0.986;0.986;0.994|.	D|D	0.86812|0.86812	0.1999|0.1999	10|6	0.49607|.	T|.	0.09|.	-16.7328|-16.7328	19.3937|19.3937	0.94596|0.94596	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2635;2635;2635|.	Q6IEH8;Q6KC79;Q6KC79-2|.	.;NIPBL_HUMAN;.|.	Q|N	2635|102;140	ENSP00000282516:E2635Q;ENSP00000406266:E2635Q|ENSP00000421504:K102N	ENSP00000282516:E2635Q|.	E|K	+|+	1|3	0|2	NIPBL|NIPBL	37099691|37099691	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.986000|0.986000	0.74619|0.74619	9.476000|9.476000	0.97823|0.97823	2.583000|2.583000	0.87209|0.87209	0.591000|0.591000	0.81541|0.81541	GAA|AAG	NIPBL	-	NULL		0.388	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	G	NM_015384		37063934	+1	no_errors	ENST00000282516	ensembl	human	known	70_37	missense	SNP	1.000	C
NISCH	11188	genome.wustl.edu	37	3	52522532	52522532	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52522532G>A	ENST00000479054.1	+	17	3096	c.3024G>A	c.(3022-3024)ctG>ctA	p.L1008L	NISCH_ENST00000345716.4_Silent_p.L1008L			Q9Y2I1	NISCH_HUMAN	nischarin	1008					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TGCAGGACCTGAAGACTGTGG	0.652																																																	0													46.0	46.0	46.0					3																	52522532		2202	4300	6502	SO:0001819	synonymous_variant	11188			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3024G>A	3.37:g.52522532G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.L1008	ENST00000479054.1	37	c.3024	CCDS33767.1	3																																																																																			NISCH	-	NULL		0.652	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1	G	NM_007184		52522532	+1	no_errors	ENST00000345716	ensembl	human	known	70_37	silent	SNP	0.984	A
NISCH	11188	genome.wustl.edu	37	3	52524734	52524734	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52524734G>A	ENST00000479054.1	+	20	3699	c.3627G>A	c.(3625-3627)caG>caA	p.Q1209Q	NISCH_ENST00000345716.4_Silent_p.Q1209Q			Q9Y2I1	NISCH_HUMAN	nischarin	1209					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TCTGGCATCAGAAAAACACCG	0.532																																																	0													146.0	146.0	146.0					3																	52524734		2203	4300	6503	SO:0001819	synonymous_variant	11188			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3627G>A	3.37:g.52524734G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.Q1209	ENST00000479054.1	37	c.3627	CCDS33767.1	3																																																																																			NISCH	-	NULL		0.532	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1	G	NM_007184		52524734	+1	no_errors	ENST00000345716	ensembl	human	known	70_37	silent	SNP	1.000	A
NKAPL	222698	genome.wustl.edu	37	6	28228247	28228247	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:28228247G>C	ENST00000343684.3	+	1	1150	c.1098G>C	c.(1096-1098)aaG>aaC	p.K366N	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	366										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CTGATGAGAAGAGAGCTCTTG	0.443																																																	0													159.0	147.0	152.0					6																	28228247		2203	4300	6503	SO:0001583	missense	222698			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.1098G>C	6.37:g.28228247G>C	ENSP00000345716:p.Lys366Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	pfam_DUF926	p.K366N	ENST00000343684.3	37	c.1098	CCDS34353.1	6	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530922	0.64972	.	.	ENSG00000189134	ENST00000343684	T	0.32023	1.47	4.63	2.72	0.32119	.	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53493	-0.8431	10	0.87932	D	0	-18.4002	7.7627	0.28961	0.2087:0.0:0.7913:0.0	.	366	Q5M9Q1	NKAPL_HUMAN	N	366	ENSP00000345716:K366N	ENSP00000345716:K366N	K	+	3	2	NKAPL	28336226	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.169000	0.50809	0.592000	0.29728	0.655000	0.94253	AAG	NKAPL	-	pfam_DUF926		0.443	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	G			28228247	+1	no_errors	ENST00000343684	ensembl	human	known	70_37	missense	SNP	1.000	C
NKAPL	222698	genome.wustl.edu	37	6	28228286	28228286	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:28228286G>C	ENST00000343684.3	+	1	1189	c.1137G>C	c.(1135-1137)aaG>aaC	p.K379N	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	379										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGAGACGAAAGAGAGAAAGTA	0.428																																																	0													110.0	104.0	106.0					6																	28228286		2203	4300	6503	SO:0001583	missense	222698			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.1137G>C	6.37:g.28228286G>C	ENSP00000345716:p.Lys379Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	pfam_DUF926	p.K379N	ENST00000343684.3	37	c.1137	CCDS34353.1	6	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637886	0.67130	.	.	ENSG00000189134	ENST00000343684	T	0.25912	1.77	4.63	3.74	0.42951	.	0.047269	0.85682	N	0.000000	T	0.32704	0.0838	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.13361	-1.0512	10	0.49607	T	0.09	-10.92	6.4153	0.21714	0.0977:0.1877:0.7146:0.0	.	379	Q5M9Q1	NKAPL_HUMAN	N	379	ENSP00000345716:K379N	ENSP00000345716:K379N	K	+	3	2	NKAPL	28336265	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.789000	0.55454	1.261000	0.44149	0.655000	0.94253	AAG	NKAPL	-	pfam_DUF926		0.428	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	G			28228286	+1	no_errors	ENST00000343684	ensembl	human	known	70_37	missense	SNP	1.000	C
NKX2-1	7080	genome.wustl.edu	37	14	36988461	36988461	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:36988461G>A	ENST00000518149.1	-	2	707	c.102C>T	c.(100-102)ctC>ctT	p.L34L	NKX2-1_ENST00000498187.2_Silent_p.L34L|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000522719.2_Silent_p.L34L|NKX2-1_ENST00000354822.5_Silent_p.L64L			P43699	NKX21_HUMAN	NK2 homeobox 1	34					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GCGGAGCCCCGAGGCCGCCGC	0.672			A		NSCLC																																			Dom	yes		14	14q13	7080	NK2 homeobox 1		E	0													8.0	10.0	9.0					14																	36988461		2169	4250	6419	SO:0001819	synonymous_variant	7080				CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"""Homeoboxes / ANTP class : NKL subclass"""	11825	protein-coding gene	gene with protein product		600635	"""benign chorea"", ""thyroid transcription factor 1"""	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.102C>T	14.37:g.36988461G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.L64	ENST00000518149.1	37	c.192	CCDS9659.1	14																																																																																			NKX2-1	-	NULL		0.672	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NKX2-1	HGNC	protein_coding	OTTHUMT00000376225.2	G	NM_003317		36988461	-1	no_errors	ENST00000354822	ensembl	human	known	70_37	silent	SNP	0.997	A
NKX2-6	137814	genome.wustl.edu	37	8	23563960	23563960	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:23563960C>G	ENST00000325017.3	-	1	151	c.152G>C	c.(151-153)cGa>cCa	p.R51P	RP11-175E9.1_ENST00000523874.1_RNA|NKX2-6_ENST00000418222.1_5'Flank	NM_001136271.2	NP_001129743.2	A6NCS4	NKX26_HUMAN	NK2 homeobox 6	51					atrial cardiac muscle cell development (GO:0055014)|cell differentiation (GO:0030154)|digestive tract development (GO:0048565)|embryonic heart tube development (GO:0035050)|hypothalamus development (GO:0021854)|negative regulation of apoptotic process (GO:0043066)|pericardium development (GO:0060039)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTCTGACCCTCGCGGCTCTGC	0.652																																																	0																																										SO:0001583	missense	137814			CN272646		8p21.2	2012-03-09	2011-06-01			ENSG00000180053		"""Homeoboxes / ANTP class : NKL subclass"""	32940	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	611770	"""NK2 transcription factor related, locus 6 (Drosophila)"""			15649947	Standard	NM_001136271		Approved	CSX2, NKX4-2	uc011kzy.3	A6NCS4		ENST00000325017.3:c.152G>C	8.37:g.23563960C>G	ENSP00000320089:p.Arg51Pro	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.R51P	ENST00000325017.3	37	c.152		8	.	.	.	.	.	.	.	.	.	.	C	11.88	1.772080	0.31320	.	.	ENSG00000180053	ENST00000325017	D	0.88201	-2.35	5.43	-6.14	0.02111	.	5.332380	0.00550	N	0.000240	T	0.78130	0.4235	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.65191	-0.6228	7	0.34782	T	0.22	.	0.8113	0.01093	0.1978:0.2534:0.289:0.2598	.	.	.	.	P	51	ENSP00000320089:R51P	ENSP00000320089:R51P	R	-	2	0	NKX2-6	23619905	0.000000	0.05858	0.000000	0.03702	0.228000	0.25075	-0.930000	0.03972	-1.419000	0.02012	-0.339000	0.08088	CGA	NKX2-6	-	NULL		0.652	NKX2-6-001	KNOWN	basic|appris_principal	protein_coding	NKX2-6	HGNC	protein_coding	OTTHUMT00000376057.4	C	NM_001136271		23563960	-1	no_errors	ENST00000325017	ensembl	human	novel	70_37	missense	SNP	0.000	G
NLN	57486	genome.wustl.edu	37	5	65084037	65084037	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:65084037G>C	ENST00000380985.5	+	8	1229	c.1051G>C	c.(1051-1053)Gaa>Caa	p.E351Q	NLN_ENST00000502464.1_Missense_Mutation_p.E247Q	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	351						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CAGGGGTTTTGAATATGATGG	0.378																																																	0													112.0	120.0	117.0					5																	65084037		2203	4300	6503	SO:0001583	missense	57486			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1051G>C	5.37:g.65084037G>C	ENSP00000370372:p.Glu351Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULJ4	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.E351Q	ENST00000380985.5	37	c.1051	CCDS3989.1	5	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888421	0.33348	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159;ENST00000511299	T;T;T	0.09445	2.98;2.98;2.98	6.07	6.07	0.98685	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.554982	0.20607	N	0.089041	T	0.12603	0.0306	L	0.38175	1.15	0.31992	N	0.604431	B;B;P	0.43826	0.002;0.014;0.818	B;B;B	0.39119	0.006;0.015;0.291	T	0.01688	-1.1295	10	0.38643	T	0.18	-14.0195	20.6593	0.99626	0.0:0.0:1.0:0.0	.	46;351;351	Q96K48;Q9BYT8;Q9BQD0	.;NEUL_HUMAN;.	Q	351;247;351;79	ENSP00000370372:E351Q;ENSP00000423214:E247Q;ENSP00000427417:E79Q	ENSP00000339283:E351Q	E	+	1	0	NLN	65119793	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.588000	0.46137	2.885000	0.99019	0.655000	0.94253	GAA	NLN	-	pfam_Pept_M3A_M3B		0.378	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLN	HGNC	protein_coding	OTTHUMT00000215060.1	G			65084037	+1	no_errors	ENST00000380985	ensembl	human	known	70_37	missense	SNP	0.997	C
NLRC5	84166	genome.wustl.edu	37	16	57111636	57111636	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:57111636C>T	ENST00000262510.6	+	42	5150	c.4925C>T	c.(4924-4926)tCa>tTa	p.S1642L	NLRC5_ENST00000308149.7_Missense_Mutation_p.S1613L|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.S1613L	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1642					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CACAGCCTCTCAGGGAATAGC	0.647																																																	0													71.0	75.0	73.0					16																	57111636		2198	4300	6498	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4925C>T	16.37:g.57111636C>T	ENSP00000262510:p.Ser1642Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.S1642L	ENST00000262510.6	37	c.4925	CCDS10773.1	16	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962579	0.53400	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.13307	2.6;2.6;2.6	4.81	4.81	0.61882	.	0.000000	0.27613	N	0.018594	T	0.31358	0.0794	L	0.59436	1.845	0.80722	D	1	D	0.64830	0.994	D	0.76071	0.987	T	0.00617	-1.1642	10	0.34782	T	0.22	.	13.2432	0.60008	0.0:1.0:0.0:0.0	.	1642	Q86WI3	NLRC5_HUMAN	L	1642;1613;1613	ENSP00000262510:S1642L;ENSP00000308886:S1613L;ENSP00000441727:S1613L	ENSP00000262510:S1642L	S	+	2	0	NLRC5	55669137	0.966000	0.33281	0.958000	0.39756	0.089000	0.18198	2.392000	0.44433	2.491000	0.84063	0.655000	0.94253	TCA	NLRC5	-	smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp		0.647	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	C	NM_032206		57111636	+1	no_errors	ENST00000262510	ensembl	human	known	70_37	missense	SNP	0.977	T
NLRP1	22861	genome.wustl.edu	37	17	5418805	5418805	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:5418805G>C	ENST00000572272.1	-	16	4089	c.4090C>G	c.(4090-4092)Cca>Gca	p.P1364A	NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000354411.3_Missense_Mutation_p.P1334A|NLRP1_ENST00000345221.3_Missense_Mutation_p.P1320A|RNU7-31P_ENST00000517262.1_RNA|NLRP1_ENST00000269280.4_Missense_Mutation_p.P1320A|NLRP1_ENST00000577119.1_Missense_Mutation_p.P1290A			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1364					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ATGCGGGCTGGAGGGATCAGA	0.512																																																	0													64.0	69.0	67.0					17																	5418805		2002	4168	6170	SO:0001583	missense	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.4090C>G	17.37:g.5418805G>C	ENSP00000460475:p.Pro1364Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.P1364A	ENST00000572272.1	37	c.4090	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	G	9.934	1.215504	0.22373	.	.	ENSG00000091592	ENST00000269280;ENST00000354411;ENST00000345221	T;T	0.71341	-0.43;-0.56	4.17	1.08	0.20341	.	0.829123	0.10149	N	0.709911	T	0.68007	0.2954	L	0.57536	1.79	0.09310	N	1	P;P;P;P	0.50156	0.932;0.932;0.889;0.932	P;P;B;P	0.50659	0.647;0.647;0.444;0.647	T	0.54669	-0.8259	10	0.23302	T	0.38	.	3.6053	0.08039	0.208:0.0:0.5951:0.1969	.	1290;1334;1364;1320	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2	.;.;NALP1_HUMAN;.	A	1364;1334;1320	ENSP00000346390:P1334A;ENSP00000324366:P1320A	ENSP00000269280:P1364A	P	-	1	0	NLRP1	5359529	0.000000	0.05858	0.002000	0.10522	0.215000	0.24574	-0.185000	0.09684	0.310000	0.22990	0.650000	0.86243	CCA	NLRP1	-	NULL		0.512	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	G	NM_033004		5418805	-1	no_errors	ENST00000572272	ensembl	human	known	70_37	missense	SNP	0.002	C
NLRP1	22861	genome.wustl.edu	37	17	5436619	5436619	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:5436619C>G	ENST00000572272.1	-	10	3133				NLRP1_ENST00000262467.5_Missense_Mutation_p.K1046N|NLRP1_ENST00000354411.3_Intron|NLRP1_ENST00000571307.1_Intron|NLRP1_ENST00000345221.3_Intron|NLRP1_ENST00000269280.4_Intron|NLRP1_ENST00000577119.1_Intron			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				caccgtggctcttgcctgcaa	0.527																																																	0													108.0	97.0	101.0					17																	5436619		1327	2309	3636	SO:0001627	intron_variant	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3133+4G>C	17.37:g.5436619C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN,prints_Disease_R	p.K1046N	ENST00000572272.1	37	c.3138	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	C	0.712	-0.786606	0.02907	.	.	ENSG00000091592	ENST00000544378;ENST00000262467	T;T	0.71103	-0.54;-0.54	0.561	-1.12	0.09808	.	.	.	.	.	T	0.35219	0.0924	N	0.08118	0	0.09310	N	1	P	0.42993	0.797	B	0.28784	0.094	T	0.32561	-0.9902	8	0.15952	T	0.53	.	.	.	.	.	1046	E9PE50	.	N	1046	ENSP00000442029:K1046N;ENSP00000262467:K1046N	ENSP00000262467:K1046N	K	-	3	2	NLRP1	5377343	0.000000	0.05858	0.002000	0.10522	0.197000	0.23852	-0.366000	0.07563	-0.442000	0.07190	0.306000	0.20318	AAG	NLRP1	-	NULL		0.527	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	C	NM_033004		5436619	-1	no_errors	ENST00000262467	ensembl	human	known	70_37	missense	SNP	0.003	G
NLRP12	91662	genome.wustl.edu	37	19	54314501	54314501	+	Missense_Mutation	SNP	G	G	A	rs142971951	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:54314501G>A	ENST00000324134.6	-	3	580	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	NLRP12_ENST00000391773.1_Missense_Mutation_p.R138W|NLRP12_ENST00000345770.5_Missense_Mutation_p.R138W|NLRP12_ENST00000351894.4_Missense_Mutation_p.R138W|NLRP12_ENST00000354278.3_Missense_Mutation_p.R138W|NLRP12_ENST00000391772.1_Missense_Mutation_p.R138W|NLRP12_ENST00000535162.1_Missense_Mutation_p.R138W|NLRP12_ENST00000391775.3_Missense_Mutation_p.R138W	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	138					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCATGAGCCGGAATTTCCTG	0.552																																																	0								G	TRP/ARG	6,4400	11.4+/-27.6	0,6,2197	88.0	86.0	87.0		412	0.7	0.8	19	dbSNP_134	87	0,8600		0,0,4300	yes	missense	NLRP12	NM_144687.2	101	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging	138/1062	54314501	6,13000	2203	4300	6503	SO:0001583	missense	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.412C>T	19.37:g.54314501G>A	ENSP00000319377:p.Arg138Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R138W	ENST00000324134.6	37	c.412	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313502	0.60414	0.001362	0.0	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	4.47	0.703	0.18116	.	0.192676	0.25601	N	0.029547	D	0.89441	0.6716	M	0.72894	2.215	0.53688	D	0.999972	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	P;P;P;P	0.56127	0.732;0.732;0.732;0.792	D	0.86130	0.1574	10	0.56958	D	0.05	.	4.8919	0.13731	0.0909:0.1456:0.6144:0.1491	.	138;138;138;138	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	W	138	ENSP00000319377:R138W;ENSP00000438030:R138W;ENSP00000340473:R138W;ENSP00000346231:R138W;ENSP00000375655:R138W;ENSP00000375653:R138W;ENSP00000375652:R138W	ENSP00000319377:R138W	R	-	1	2	NLRP12	59006313	0.000000	0.05858	0.836000	0.33094	0.845000	0.48019	0.131000	0.15870	0.427000	0.26145	0.306000	0.20318	CGG	NLRP12	-	NULL		0.552	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	G	NM_144687		54314501	-1	no_errors	ENST00000324134	ensembl	human	known	70_37	missense	SNP	0.794	A
NLRP2	55655	genome.wustl.edu	37	19	55508776	55508776	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:55508776C>T	ENST00000543010.1	+	12	3114	c.2971C>T	c.(2971-2973)Cag>Tag	p.Q991*	NLRP2_ENST00000391721.4_Nonsense_Mutation_p.Q967*|NLRP2_ENST00000339757.7_Nonsense_Mutation_p.Q969*|NLRP2_ENST00000537859.1_Nonsense_Mutation_p.Q969*|NLRP2_ENST00000448584.2_Nonsense_Mutation_p.Q991*|NLRP2_ENST00000427260.2_Nonsense_Mutation_p.Q968*|NLRP2_ENST00000538819.1_Nonsense_Mutation_p.Q967*|NLRP2_ENST00000263437.6_Nonsense_Mutation_p.Q988*	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	991					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGACCTGGGTCAGAATCCCTT	0.542																																																	0													188.0	171.0	177.0					19																	55508776		2203	4300	6503	SO:0001587	stop_gained	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2971C>T	19.37:g.55508776C>T	ENSP00000445135:p.Gln991*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.Q991*	ENST00000543010.1	37	c.2971	CCDS12913.1	19	.	.	.	.	.	.	.	.	.	.	C	38	7.185063	0.98121	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	.	.	.	3.2	0.696	0.18075	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	3.0877	0.06283	0.2643:0.5841:0.0:0.1516	.	.	.	.	X	991;967;969;991;969;968;967;988	.	ENSP00000263437:Q988X	Q	+	1	0	NLRP2	60200588	0.000000	0.05858	0.268000	0.24571	0.258000	0.26162	-0.507000	0.06352	0.628000	0.30357	0.561000	0.74099	CAG	NLRP2	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.542	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	C	NM_017852		55508776	+1	no_errors	ENST00000448584	ensembl	human	known	70_37	nonsense	SNP	0.322	T
NOC2L	26155	genome.wustl.edu	37	1	894355	894355	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:894355C>G	ENST00000327044.6	-	2	182	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	NOC2L_ENST00000487214.1_5'UTR|KLHL17_ENST00000338591.3_5'Flank	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	45					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CGGGCAGCCTCGCGTGCTTCC	0.642																																																	0													25.0	28.0	27.0					1																	894355		2199	4296	6495	SO:0001583	missense	26155			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.133G>C	1.37:g.894355C>G	ENSP00000317992:p.Glu45Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SVA3|Q9BTN6	Missense_Mutation	SNP	pfam_UPF0120,superfamily_ARM-type_fold	p.E45Q	ENST00000327044.6	37	c.133	CCDS3.1	1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306787	0.23821	.	.	ENSG00000188976	ENST00000327044	T	0.24151	1.87	4.53	-1.5	0.08691	.	1.919610	0.03090	N	0.159671	T	0.15739	0.0379	L	0.38838	1.175	0.09310	N	1	P;P	0.45240	0.854;0.854	B;B	0.36464	0.225;0.225	T	0.20107	-1.0285	10	0.14252	T	0.57	0.4151	4.362	0.11206	0.0:0.3912:0.3161:0.2926	.	45;45	B3KNC3;Q9Y3T9	.;NOC2L_HUMAN	Q	45	ENSP00000317992:E45Q	ENSP00000317992:E45Q	E	-	1	0	NOC2L	884218	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.146000	0.10250	-0.150000	0.11195	0.462000	0.41574	GAG	NOC2L	-	NULL		0.642	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC2L	HGNC	protein_coding	OTTHUMT00000097869.1	C	NM_015658		894355	-1	no_errors	ENST00000327044	ensembl	human	known	70_37	missense	SNP	0.000	G
NOL10	79954	genome.wustl.edu	37	2	10829970	10829970	+	Silent	SNP	G	G	A	rs374802991		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:10829970G>A	ENST00000381685.5	-	1	123	c.18C>T	c.(16-18)ctC>ctT	p.L6L	NOL10_ENST00000345985.3_Silent_p.L6L|NOL10_ENST00000538384.1_Silent_p.L6L|NOL10_ENST00000542668.1_5'UTR|RN7SL832P_ENST00000607781.1_lincRNA	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	6						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TCACCTCATTGAGGCTGGAGA	0.622																																																	0													62.0	53.0	56.0					2																	10829970		2203	4300	6503	SO:0001819	synonymous_variant	79954			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.18C>T	2.37:g.10829970G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Silent	SNP	pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.L6	ENST00000381685.5	37	c.18	CCDS1673.2	2																																																																																			NOL10	-	NULL		0.622	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL10	HGNC	protein_coding	OTTHUMT00000239227.1	G	NM_024894		10829970	-1	no_errors	ENST00000381685	ensembl	human	known	70_37	silent	SNP	1.000	A
NOL3	8996	genome.wustl.edu	37	16	67207831	67207831	+	5'Flank	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:67207831G>C	ENST00000568146.1	+	0	0				NOL3_ENST00000432069.2_5'UTR|NOL3_ENST00000564053.1_Missense_Mutation_p.Q20H|NOL3_ENST00000268605.7_5'Flank|KIAA0895L_ENST00000563831.2_5'Flank			O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)						apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CTTGGGGACAGAAGGAGGAGC	0.632																																																	0																																										SO:0001631	upstream_gene_variant	8996			AF043244	CCDS42176.1, CCDS58473.1, CCDS61960.1	16q22.1	2008-08-27				ENSG00000140939			7869	protein-coding gene	gene with protein product		605235				9560245	Standard	NM_001276312		Approved	ARC, NOP30, MYP, CARD2	uc010vjd.3	O60936			16.37:g.67207831G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFL0|O60937	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD	p.Q20H	ENST00000568146.1	37	c.60	CCDS58473.1	16																																																																																			NOL3	-	NULL		0.632	NOL3-003	KNOWN	basic|CCDS	protein_coding	NOL3	HGNC	protein_coding	OTTHUMT00000422746.1	G			67207831	+1	no_errors	ENST00000564053	ensembl	human	putative	70_37	missense	SNP	0.000	C
NOL8	55035	genome.wustl.edu	37	9	95077787	95077787	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:95077787G>A	ENST00000535387.1	-	6	1119	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	NOL8_ENST00000442668.2_Missense_Mutation_p.R374C|NOL8_ENST00000545558.1_Missense_Mutation_p.R374C|NOL8_ENST00000358855.4_Missense_Mutation_p.R306C|NOL8_ENST00000542053.1_Missense_Mutation_p.R306C					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCATACTCACGATCATTTCTC	0.328																																																	0													63.0	54.0	57.0					9																	95077787		1861	4099	5960	SO:0001583	missense	55035			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1120C>T	9.37:g.95077787G>A	ENSP00000441300:p.Arg374Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R374C	ENST00000535387.1	37	c.1120	CCDS47993.1	9	.	.	.	.	.	.	.	.	.	.	G	0.210	-1.037364	0.02013	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.44482	2.5;2.5;2.5;2.72;2.5;2.23;0.92	5.63	-11.3	0.00108	.	1.442720	0.03587	N	0.231180	T	0.16599	0.0399	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18398	-1.0338	10	0.38643	T	0.18	8.3153	1.8439	0.03155	0.2503:0.1188:0.3197:0.3112	.	374	Q76FK4	NOL8_HUMAN	C	374;376;306;374;374;306;374;374	ENSP00000401177:R374C;ENSP00000351723:R306C;ENSP00000441140:R374C;ENSP00000441300:R374C;ENSP00000440709:R306C;ENSP00000414112:R374C;ENSP00000412471:R374C	ENSP00000351723:R306C	R	-	1	0	NOL8	94117608	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.307000	0.08167	-3.231000	0.00209	-5.268000	0.00001	CGT	NOL8	-	NULL		0.328	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2	G	NM_017948		95077787	-1	no_errors	ENST00000442668	ensembl	human	known	70_37	missense	SNP	0.000	A
NONO	4841	genome.wustl.edu	37	X	70520933	70520933	+	3'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:70520933G>C	ENST00000276079.8	+	0	2628				NONO_ENST00000535149.1_3'UTR|NONO_ENST00000373841.1_3'UTR|NONO_ENST00000490044.1_3'UTR|ITGB1BP2_ENST00000538820.1_5'Flank|ITGB1BP2_ENST00000373829.3_5'Flank	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding						circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TACTGTGTTTGATTTGTCTCA	0.348			T	TFE3	papillary renal cancer																																			Dom	yes		X	Xq13.1	4841	"""non-POU domain containing, octamer-binding"""		E	0																																										SO:0001624	3_prime_UTR_variant	4841			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.*1007G>C	X.37:g.70520933G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	RNA	SNP	-	NULL	ENST00000276079.8	37	NULL	CCDS14410.1	X																																																																																			NONO	-	-		0.348	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NONO	HGNC	protein_coding	OTTHUMT00000057138.1	G	NM_007363		70520933	+1	no_errors	ENST00000490044	ensembl	human	known	70_37	rna	SNP	0.990	C
NOP14	8602	genome.wustl.edu	37	4	2951703	2951703	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:2951703C>G	ENST00000314262.6	-	8	1288	c.1240G>C	c.(1240-1242)Gct>Cct	p.A414P	NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.A414P|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.A414P|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.A414P	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	414					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						GCTTTTCCAGCTCTTTCCTTG	0.542																																																	0													281.0	276.0	278.0					4																	2951703		2203	4300	6503	SO:0001583	missense	8602			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1240G>C	4.37:g.2951703C>G	ENSP00000315674:p.Ala414Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	pfam_Nop14	p.A414P	ENST00000314262.6	37	c.1240	CCDS33945.1	4	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809302	0.50421	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	4.87	0.0896	0.14460	.	0.194715	0.43919	D	0.000503	T	0.39963	0.1098	M	0.74881	2.28	0.19575	N	0.999962	D;D;P	0.58970	0.97;0.984;0.939	P;P;P	0.57846	0.828;0.761;0.602	T	0.34700	-0.9818	10	0.87932	D	0	0.1356	1.5806	0.02633	0.1368:0.3283:0.1335:0.4015	.	207;414;414	Q96GC8;E9PFK5;P78316	.;.;NOP14_HUMAN	P	414;414;414;414;313	ENSP00000405068:A414P;ENSP00000315674:A414P;ENSP00000427415:A414P;ENSP00000381146:A414P	ENSP00000315674:A414P	A	-	1	0	NOP14	2921501	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.146000	0.16180	-0.367000	0.08052	0.655000	0.94253	GCT	NOP14	-	pfam_Nop14		0.542	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	C	NM_003703		2951703	-1	no_errors	ENST00000416614	ensembl	human	known	70_37	missense	SNP	0.001	G
NOP2	4839	genome.wustl.edu	37	12	6669685	6669685	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:6669685C>T	ENST00000322166.5	-	14	1609	c.1488G>A	c.(1486-1488)ctG>ctA	p.L496L	NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000537442.1_Silent_p.L496L|NOP2_ENST00000545200.1_Silent_p.L492L|NOP2_ENST00000399466.2_Silent_p.L492L|NOP2_ENST00000382421.3_Silent_p.L529L|NOP2_ENST00000541778.1_Silent_p.L492L	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	496					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CAATAGCACTCAGGAGCAACT	0.557																																																	0													51.0	52.0	51.0					12																	6669685		2007	4175	6182	SO:0001819	synonymous_variant	4839				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1488G>A	12.37:g.6669685C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Silent	SNP	pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p	p.L496	ENST00000322166.5	37	c.1488	CCDS58203.1	12																																																																																			NOP2	-	pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,tigrfam_Nop2p		0.557	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	HGNC	protein_coding	OTTHUMT00000402614.1	C	NM_006170		6669685	-1	no_errors	ENST00000322166	ensembl	human	known	70_37	silent	SNP	0.997	T
NOS2	4843	genome.wustl.edu	37	17	26108139	26108139	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:26108139G>A	ENST00000313735.6	-	8	1020	c.787C>T	c.(787-789)Cag>Tag	p.Q263*		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	263					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CGGATGAGCTGAGCATTCCAC	0.597																																																	0													92.0	79.0	84.0					17																	26108139		2203	4300	6503	SO:0001587	stop_gained	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.787C>T	17.37:g.26108139G>A	ENSP00000327251:p.Gln263*	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Nonsense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.Q263*	ENST00000313735.6	37	c.787	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.568263	0.96540	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5127	0.90923	0.0:0.0:1.0:0.0	.	.	.	.	X	263	.	ENSP00000305638:Q263X	Q	-	1	0	NOS2	23132266	1.000000	0.71417	0.955000	0.39395	0.010000	0.07245	9.869000	0.99810	2.608000	0.88229	0.655000	0.94253	CAG	NOS2	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met		0.597	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	G	NM_000625		26108139	-1	no_errors	ENST00000313735	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NOS3	4846	genome.wustl.edu	37	7	150706116	150706116	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:150706116G>A	ENST00000297494.3	+	18	2568	c.2211G>A	c.(2209-2211)ctG>ctA	p.L737L	NOS3_ENST00000461406.1_Silent_p.L531L	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTACCGGCTGAGCGCCCAGG	0.677											OREG0018442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													18.0	22.0	21.0					7																	150706116		2202	4295	6497	SO:0001819	synonymous_variant	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2211G>A	7.37:g.150706116G>A		Somatic	1734	WXS	Illumina HiSeq	Phase_IV	Q495E5	Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.L737	ENST00000297494.3	37	c.2211	CCDS5912.1	7																																																																																			NOS3	-	superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met		0.677	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000350750.2	G	NM_000603		150706116	+1	no_errors	ENST00000297494	ensembl	human	known	70_37	silent	SNP	1.000	A
NOS3	4846	genome.wustl.edu	37	7	150706129	150706129	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:150706129G>T	ENST00000297494.3	+	18	2581	c.2224G>T	c.(2224-2226)Gag>Tag	p.E742*	NOS3_ENST00000461406.1_Nonsense_Mutation_p.E536*	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E742Q(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCCAGGCCGAGGGCCTGCA	0.682											OREG0018442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	breast(1)											18.0	22.0	21.0					7																	150706129		2203	4297	6500	SO:0001587	stop_gained	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2224G>T	7.37:g.150706129G>T	ENSP00000297494:p.Glu742*	Somatic	1734	WXS	Illumina HiSeq	Phase_IV	Q495E5	Nonsense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.E742*	ENST00000297494.3	37	c.2224	CCDS5912.1	7	.	.	.	.	.	.	.	.	.	.	G	43	9.937053	0.99299	.	.	ENSG00000164867	ENST00000297494;ENST00000484576;ENST00000461406	.	.	.	5.03	3.1	0.35709	.	0.519812	0.17489	N	0.172416	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-20.6715	5.9374	0.19173	0.1099:0.374:0.5161:0.0	.	.	.	.	X	742;61;536	.	ENSP00000297494:E742X	E	+	1	0	NOS3	150337062	0.779000	0.28652	0.938000	0.37757	0.988000	0.76386	1.007000	0.29860	0.602000	0.29896	0.555000	0.69702	GAG	NOS3	-	superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met		0.682	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000350750.2	G	NM_000603		150706129	+1	no_errors	ENST00000297494	ensembl	human	known	70_37	nonsense	SNP	0.887	T
NOTCH1	4851	genome.wustl.edu	37	9	139410136	139410136	+	Missense_Mutation	SNP	C	C	T	rs562413261	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:139410136C>T	ENST00000277541.6	-	11	1777	c.1702G>A	c.(1702-1704)Gat>Aat	p.D568N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	568	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCGCACTCATCGATGTCCACC	0.687			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			C|||	4	0.000798722	0.0	0.0	5008	,	,		12429	0.001		0.0	False		,,,				2504	0.0031							Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													16.0	23.0	20.0					9																	139410136		2116	4216	6332	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1702G>A	9.37:g.139410136C>T	ENSP00000277541:p.Asp568Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.D568N	ENST00000277541.6	37	c.1702	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	0.118	-1.128890	0.01756	.	.	ENSG00000148400	ENST00000277541	D	0.95482	-3.72	5.05	-0.87	0.10646	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.384561	0.27509	N	0.019051	D	0.87513	0.6196	N	0.20445	0.575	0.34423	D	0.697628	B	0.06786	0.001	B	0.04013	0.001	T	0.77437	-0.2588	10	0.14656	T	0.56	.	9.4484	0.38712	0.0:0.4201:0.0:0.5799	.	568	P46531	NOTC1_HUMAN	N	568	ENSP00000277541:D568N	ENSP00000277541:D568N	D	-	1	0	NOTCH1	138529957	0.023000	0.18921	0.398000	0.26321	0.035000	0.12851	0.136000	0.15974	-0.057000	0.13199	0.557000	0.71058	GAT	NOTCH1	-	smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom		0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139410136	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	0.503	T
NOVA1	4857	genome.wustl.edu	37	14	26949239	26949239	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:26949239C>G	ENST00000344429.5	-	3	394	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	NOVA1_ENST00000574031.1_Missense_Mutation_p.E131Q|NOVA1_ENST00000465357.2_Missense_Mutation_p.E131Q|NOVA1_ENST00000267422.7_Missense_Mutation_p.E9Q|NOVA1_ENST00000539517.2_Missense_Mutation_p.E131Q|NOVA1_ENST00000547619.1_Missense_Mutation_p.E131Q	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	134					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CTGACTGGTTCTGTCTTGGCC	0.438																																																	0													215.0	179.0	191.0					14																	26949239		2203	4300	6503	SO:0001583	missense	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.391G>C	14.37:g.26949239C>G	ENSP00000342387:p.Glu131Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.E131Q	ENST00000344429.5	37	c.391	CCDS9635.1	14	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054754	0.75960	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476;ENST00000549146;ENST00000549571;ENST00000344429;ENST00000547619	T;T;T;T;T;T;T;T;T	0.49720	1.38;1.51;1.24;1.53;1.46;0.77;0.97;0.88;0.85	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000003	T	0.54615	0.1869	N	0.24115	0.695	0.58432	D	0.999999	P;D;P;D	0.69078	0.939;0.997;0.948;0.969	P;P;B;P	0.61003	0.617;0.882;0.431;0.634	T	0.55179	-0.8181	10	0.49607	T	0.09	-16.2294	19.8535	0.96748	0.0:1.0:0.0:0.0	.	131;134;131;131	P51513-2;P51513;D3DS81;P51513-4	.;NOVA1_HUMAN;.;.	Q	131;131;9;90;9;9;94;131;131	ENSP00000447391:E131Q;ENSP00000438875:E131Q;ENSP00000267422:E9Q;ENSP00000408914:E90Q;ENSP00000299472:E9Q;ENSP00000449113:E9Q;ENSP00000449185:E94Q;ENSP00000342387:E131Q;ENSP00000448157:E131Q	ENSP00000267422:E9Q	E	-	1	0	NOVA1	26019079	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.792000	0.85828	2.686000	0.91538	0.585000	0.79938	GAA	NOVA1	-	NULL		0.438	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	NOVA1	HGNC	protein_coding	OTTHUMT00000276557.1	C	NM_006491		26949239	-1	no_errors	ENST00000539517	ensembl	human	known	70_37	missense	SNP	1.000	G
NPHS2	7827	genome.wustl.edu	37	1	179526215	179526215	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:179526215G>C	ENST00000367615.4	-	5	753	c.685C>G	c.(685-687)Cga>Gga	p.R229G	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	229			R -> Q (appears to enhance susceptibility to NPHS2 in association with a second mutant allele; disease-associated 3' mutations exert a dominant-negative effect on this mutation but behave as recessive alleles when associated with the wild-type protein). {ECO:0000269|PubMed:12464671, ECO:0000269|PubMed:21722858, ECO:0000269|PubMed:23800802, ECO:0000269|PubMed:24509478}.		actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)		p.R229*(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GTGAGGGATCGATGTGCTAGG	0.413																																																	1	Substitution - Nonsense(1)	large_intestine(1)											111.0	92.0	98.0					1																	179526215		2203	4300	6503	SO:0001583	missense	7827			AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.685C>G	1.37:g.179526215G>C	ENSP00000356587:p.Arg229Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Stomatin	p.R229G	ENST00000367615.4	37	c.685	CCDS1331.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542593	0.85917	.	.	ENSG00000116218	ENST00000367615	D	0.95001	-3.58	5.93	5.93	0.95920	.	0.070347	0.64402	D	0.000015	D	0.95862	0.8653	L	0.46741	1.465	0.80722	D	1	D	0.61697	0.99	P	0.62382	0.901	D	0.95648	0.8704	10	0.59425	D	0.04	-10.5416	18.9177	0.92512	0.0:0.0:1.0:0.0	.	229	Q9NP85	PODO_HUMAN	G	229	ENSP00000356587:R229G	ENSP00000356587:R229G	R	-	1	2	NPHS2	177792838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.689000	0.61723	2.826000	0.97356	0.655000	0.94253	CGA	NPHS2	-	pfam_Band_7,smart_Band_7,prints_Stomatin		0.413	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS2	HGNC	protein_coding	OTTHUMT00000085283.1	G			179526215	-1	no_errors	ENST00000367615	ensembl	human	known	70_37	missense	SNP	1.000	C
NPIPB15	440348	genome.wustl.edu	37	16	74425650	74425650	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:74425650C>T	ENST00000429990.1	+	7	1100	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	335	Pro-rich.					extracellular region (GO:0005576)											CTTCCACCCTCAGTGGATGAT	0.542																																																	0													96.0	92.0	93.0					16																	74425650		2064	4214	6278	SO:0001583	missense	440348			BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.1004C>T	16.37:g.74425650C>T	ENSP00000411140:p.Ser335Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J9U8	Missense_Mutation	SNP	pfam_NPIP	p.S335L	ENST00000429990.1	37	c.1004		16	.	.	.	.	.	.	.	.	.	.	-	9.954	1.220904	0.22457	.	.	ENSG00000196436	ENST00000504746;ENST00000429990	T	0.67171	-0.25	.	.	.	.	.	.	.	.	T	0.70605	0.3243	L	0.43923	1.385	0.09310	N	1	D	0.67145	0.996	D	0.70016	0.967	T	0.58696	-0.7591	7	0.72032	D	0.01	.	.	.	.	.	274	A6NHN6	NPPL2_HUMAN	L	213;335	ENSP00000411140:S335L	ENSP00000411140:S335L	S	+	2	0	NPIPL2	72983151	0.038000	0.19896	0.030000	0.17652	0.030000	0.12068	0.064000	0.14437	0.073000	0.16731	0.074000	0.15403	TCA	NPIPL2	-	pfam_NPIP		0.542	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	NPIPL2	HGNC	protein_coding	OTTHUMT00000346597.2	C	NM_001018059		74425650	+1	no_errors	ENST00000429990	ensembl	human	known	70_37	missense	SNP	0.119	T
NPR3	4883	genome.wustl.edu	37	5	32774868	32774868	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:32774868C>G	ENST00000265074.8	+	4	1457	c.1114C>G	c.(1114-1116)Cta>Gta	p.L372V	NPR3_ENST00000415167.2_Missense_Mutation_p.L372V|NPR3_ENST00000415685.2_Missense_Mutation_p.L156V|NPR3_ENST00000434067.2_Missense_Mutation_p.L156V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	372					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CGTCTTGGCTCTACATGAAGT	0.433																																																	0													204.0	191.0	195.0					5																	32774868		1894	4117	6011	SO:0001583	missense	4883				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1114C>G	5.37:g.32774868C>G	ENSP00000265074:p.Leu372Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt	p.L372V	ENST00000265074.8	37	c.1114	CCDS56357.1	5	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511631	0.44660	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;D;D	0.88046	-1.3;-1.3;-1.3;-2.33;-2.33	5.87	3.56	0.40772	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89777	0.6813	L	0.49699	1.58	0.45867	D	0.998725	P;P;D;D	0.89917	0.802;0.838;1.0;1.0	B;B;D;D	0.85130	0.325;0.401;0.997;0.997	D	0.87444	0.2397	10	0.49607	T	0.09	-9.2679	8.5558	0.33480	0.0:0.163:0.0:0.837	.	156;156;372;372	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	V	149;156;156;372;372	ENSP00000425325:L149V;ENSP00000388408:L156V;ENSP00000402490:L156V;ENSP00000265074:L372V;ENSP00000398028:L372V	ENSP00000265074:L372V	L	+	1	2	NPR3	32810625	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.716000	0.47219	0.516000	0.28340	0.655000	0.94253	CTA	NPR3	-	pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt		0.433	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPR3	HGNC	protein_coding	OTTHUMT00000317550.3	C	NM_000908		32774868	+1	no_errors	ENST00000265074	ensembl	human	known	70_37	missense	SNP	1.000	G
NPY5R	4889	genome.wustl.edu	37	4	164272489	164272489	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:164272489C>T	ENST00000515560.1	+	4	2586	c.1064C>T	c.(1063-1065)tCt>tTt	p.S355F	NPY5R_ENST00000338566.3_Missense_Mutation_p.S355F|NPY5R_ENST00000506953.1_Missense_Mutation_p.S355F			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	355					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GTAAAACGTTCTGTTACAAGA	0.378																																					Melanoma(139;1287 1774 9781 19750 25599)												0													88.0	86.0	87.0					4																	164272489		2203	4300	6503	SO:0001583	missense	4889			BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1064C>T	4.37:g.164272489C>T	ENSP00000423917:p.Ser355Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GTR7|Q92916	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.S355F	ENST00000515560.1	37	c.1064	CCDS3804.1	4	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275178	0.59649	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.50813	0.73;0.73;0.73	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000041	T	0.67646	0.2915	M	0.81112	2.525	0.46725	D	0.999171	P	0.50272	0.933	P	0.57776	0.827	T	0.73914	-0.3832	10	0.72032	D	0.01	.	18.061	0.89377	0.0:1.0:0.0:0.0	.	355	Q15761	NPY5R_HUMAN	F	355	ENSP00000339377:S355F;ENSP00000423917:S355F;ENSP00000423474:S355F	ENSP00000339377:S355F	S	+	2	0	NPY5R	164491939	1.000000	0.71417	0.068000	0.19968	0.901000	0.52897	5.577000	0.67444	2.433000	0.82419	0.467000	0.42956	TCT	NPY5R	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt		0.378	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY5R	HGNC	protein_coding	OTTHUMT00000364633.1	C	NM_006174		164272489	+1	no_errors	ENST00000338566	ensembl	human	known	70_37	missense	SNP	0.973	T
NR1D1	9572	genome.wustl.edu	37	17	38253437	38253437	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:38253437G>A	ENST00000246672.3	-	2	881	c.251C>T	c.(250-252)tCa>tTa	p.S84L		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	84	Crucial for activation of GJA1. {ECO:0000250}.|Modulating.|Poly-Ser.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					cgaggaagatgaggaagaagg	0.607																																																	0													67.0	67.0	67.0					17																	38253437		2203	4300	6503	SO:0001583	missense	9572			X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.251C>T	17.37:g.38253437G>A	ENSP00000246672:p.Ser84Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P5Z4|Q15304	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S84L	ENST00000246672.3	37	c.251	CCDS11361.1	17	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556347	0.27827	.	.	ENSG00000126368	ENST00000246672	D	0.91945	-2.94	4.64	4.64	0.57946	.	0.681246	0.12844	N	0.434523	D	0.87589	0.6215	L	0.29908	0.895	0.23180	N	0.998165	B	0.21225	0.053	B	0.14023	0.01	T	0.75560	-0.3275	10	0.29301	T	0.29	.	16.4485	0.83972	0.0:0.0:1.0:0.0	.	84	P20393	NR1D1_HUMAN	L	84	ENSP00000246672:S84L	ENSP00000246672:S84L	S	-	2	0	NR1D1	35506963	0.352000	0.24895	0.182000	0.23118	0.396000	0.30629	2.967000	0.49216	2.409000	0.81822	0.462000	0.41574	TCA	NR1D1	-	NULL		0.607	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D1	HGNC	protein_coding	OTTHUMT00000257135.1	G			38253437	-1	no_errors	ENST00000246672	ensembl	human	known	70_37	missense	SNP	0.175	A
NR2C2	7182	genome.wustl.edu	37	3	15062306	15062306	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:15062306C>T	ENST00000425241.1	+	5	785	c.423C>T	c.(421-423)ttC>ttT	p.F141F	NR2C2_ENST00000323373.6_Silent_p.F160F|NR2C2_ENST00000393102.3_Silent_p.F141F|NR2C2_ENST00000406272.2_Silent_p.F141F			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	141					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAGGTTTCTTCAAAAGGAGTG	0.443																																																	0													121.0	125.0	124.0					3																	15062306		2203	4300	6503	SO:0001819	synonymous_variant	7182			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.423C>T	3.37:g.15062306C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3H5|B6ZGT8|P55092	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.F160	ENST00000425241.1	37	c.480		3																																																																																			NR2C2	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.443	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	HGNC	protein_coding	OTTHUMT00000340729.1	C	NM_003298		15062306	+1	no_errors	ENST00000323373	ensembl	human	known	70_37	silent	SNP	1.000	T
NR2C2	7182	genome.wustl.edu	37	3	15079634	15079634	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:15079634C>G	ENST00000425241.1	+	12	1862	c.1500C>G	c.(1498-1500)ctC>ctG	p.L500L	NR2C2_ENST00000323373.6_Silent_p.L519L|NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000393102.3_Silent_p.L500L|NR2C2_ENST00000406272.2_Silent_p.L500L			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	500	Ligand-binding. {ECO:0000250}.				cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTATAGTTCTCTTTAGCCCCG	0.453																																																	0													166.0	145.0	152.0					3																	15079634		2203	4300	6503	SO:0001819	synonymous_variant	7182			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.1500C>G	3.37:g.15079634C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3H5|B6ZGT8|P55092	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.L519	ENST00000425241.1	37	c.1557		3																																																																																			NR2C2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt		0.453	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	HGNC	protein_coding	OTTHUMT00000340729.1	C	NM_003298		15079634	+1	no_errors	ENST00000323373	ensembl	human	known	70_37	silent	SNP	1.000	G
NR1I2	8856	genome.wustl.edu	37	3	119526272	119526272	+	Missense_Mutation	SNP	G	G	A	rs377629240		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:119526272G>A	ENST00000337940.4	+	2	340	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	NR1I2_ENST00000466380.1_Missense_Mutation_p.E59K|NR1I2_ENST00000393716.2_Missense_Mutation_p.E59K	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	59			R -> C. {ECO:0000269|PubMed:15618712}.		drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	CATGACATGTGAAGGATGCAA	0.542																																																	0								G	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	113.0	109.0	111.0		175,292,175	5.1	1.0	3		111	0,8600		0,0,4300	no	missense,missense,missense	NR1I2	NM_003889.3,NM_022002.2,NM_033013.2	56,56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	59/435,98/474,59/398	119526272	1,13005	2203	4300	6503	SO:0001583	missense	8856			AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.292G>A	3.37:g.119526272G>A	ENSP00000336528:p.Glu98Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.E98K	ENST00000337940.4	37	c.292	CCDS2995.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.460914	0.96240	2.27E-4	0.0	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.98060	-4.69;-4.69;-4.69	5.06	5.06	0.68205	.	0.121154	0.53938	D	0.000051	D	0.98782	0.9590	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.99799	1.1035	10	0.87932	D	0	.	15.9144	0.79500	0.0:0.0:1.0:0.0	.	98;82	F1D8P9;O75469-6	.;.	K	59;59;98	ENSP00000377319:E59K;ENSP00000420297:E59K;ENSP00000336528:E98K	ENSP00000336528:E98K	E	+	1	0	NR1I2	121008962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.093000	0.94163	2.342000	0.79632	0.591000	0.81541	GAA	NR1I2	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.542	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1I2	HGNC	protein_coding	OTTHUMT00000355126.1	G			119526272	+1	no_errors	ENST00000337940	ensembl	human	known	70_37	missense	SNP	1.000	A
NRTN	4902	genome.wustl.edu	37	19	5824321	5824321	+	Missense_Mutation	SNP	G	G	A	rs371970077		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:5824321G>A	ENST00000303212.2	+	1	509	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	AC011499.1_ENST00000579264.1_RNA	NM_004558.3	NP_004549.1	Q99748	NRTN_HUMAN	neurturin	49					axon guidance (GO:0007411)|MAPK cascade (GO:0000165)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|extracellular region (GO:0005576)	receptor binding (GO:0005102)			large_intestine(1)	1						AACCCTGGACGCCCGGATTGC	0.647																																																	0								G	THR/ALA	1,4399		0,1,2199	21.0	19.0	20.0		145	-1.5	1.0	19		20	0,8594		0,0,4297	no	missense	NRTN	NM_004558.3	58	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	49/198	5824321	1,12993	2200	4297	6497	SO:0001583	missense	4902			U78110	CCDS12151.1	19p13.3	2014-01-30				ENSG00000171119		"""Endogenous ligands"""	8007	protein-coding gene	gene with protein product	"""prepro-neurturin"""	602018				8945474	Standard	NM_004558		Approved	NTN	uc002mde.3	Q99748		ENST00000303212.2:c.145G>A	19.37:g.5824321G>A	ENSP00000302648:p.Ala49Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPE8	Missense_Mutation	SNP	pfam_TGF-b_C	p.A49T	ENST00000303212.2	37	c.145	CCDS12151.1	19	.	.	.	.	.	.	.	.	.	.	G	5.998	0.368138	0.11352	2.27E-4	0.0	ENSG00000171119	ENST00000303212	D	0.82803	-1.65	4.34	-1.49	0.08718	.	0.325633	0.28724	N	0.014360	T	0.60051	0.2239	N	0.14661	0.345	0.20638	N	0.999879	B	0.21147	0.052	B	0.06405	0.002	T	0.45308	-0.9270	10	0.14656	T	0.56	-4.9724	5.8273	0.18560	0.2916:0.1727:0.5357:0.0	.	49	Q99748	NRTN_HUMAN	T	49	ENSP00000302648:A49T	ENSP00000302648:A49T	A	+	1	0	NRTN	5775321	0.994000	0.37717	0.985000	0.45067	0.463000	0.32649	0.907000	0.28531	-0.138000	0.11434	-2.069000	0.00389	GCC	NRTN	-	NULL		0.647	NRTN-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NRTN	HGNC	protein_coding	OTTHUMT00000451882.2	G	NM_004558		5824321	+1	no_errors	ENST00000303212	ensembl	human	known	70_37	missense	SNP	0.947	A
NSD1	64324	genome.wustl.edu	37	5	176562465	176562465	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:176562465C>G	ENST00000439151.2	+	2	406	c.361C>G	c.(361-363)Cct>Gct	p.P121A	NSD1_ENST00000511258.1_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.P121A	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	121					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCCTGGTGGTCCTACAGCACT	0.433			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													91.0	91.0	91.0					5																	176562465		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.361C>G	5.37:g.176562465C>G	ENSP00000395929:p.Pro121Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.P121A	ENST00000439151.2	37	c.361	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592418	0.46214	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.93953	-3.16;-3.32	4.88	3.07	0.35406	.	0.300319	0.24156	N	0.041025	D	0.83746	0.5321	N	0.08118	0	0.80722	D	1	B;B;B	0.11235	0.004;0.001;0.004	B;B;B	0.09377	0.004;0.002;0.004	T	0.76979	-0.2758	10	0.87932	D	0	.	8.0923	0.30807	0.0:0.7506:0.1607:0.0887	.	121;121;121	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	A	121	ENSP00000395929:P121A;ENSP00000354310:P121A	ENSP00000354310:P121A	P	+	1	0	NSD1	176495071	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.436000	0.34980	0.639000	0.30564	0.555000	0.69702	CCT	NSD1	-	NULL		0.433	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	C	NM_172349		176562465	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	1.000	G
NSRP1	84081	genome.wustl.edu	37	17	28512600	28512600	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:28512600G>A	ENST00000247026.5	+	7	1648	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	529					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GCGGAACAATGAAGAAACTGT	0.473																																																	0													100.0	98.0	98.0					17																	28512600		2203	4300	6503	SO:0001583	missense	84081			AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.1585G>A	17.37:g.28512600G>A	ENSP00000247026:p.Glu529Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FI71	Missense_Mutation	SNP	pfam_DUF2040	p.E529K	ENST00000247026.5	37	c.1585	CCDS11255.1	17	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670786	0.47781	.	.	ENSG00000126653	ENST00000247026;ENST00000540900	T	0.49720	0.77	6.16	2.73	0.32206	.	0.153767	0.56097	D	0.000022	T	0.39627	0.1085	L	0.45581	1.43	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.29882	-0.9997	10	0.41790	T	0.15	-20.682	11.9252	0.52814	0.2189:0.0:0.7811:0.0	.	529	Q9H0G5	NSRP1_HUMAN	K	529;460	ENSP00000247026:E529K	ENSP00000247026:E529K	E	+	1	0	NSRP1	25536726	1.000000	0.71417	0.522000	0.27862	0.652000	0.38707	3.056000	0.49923	0.951000	0.37770	-0.142000	0.14014	GAA	NSRP1	-	NULL		0.473	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSRP1	HGNC	protein_coding	OTTHUMT00000256121.2	G	NM_032141		28512600	+1	no_errors	ENST00000247026	ensembl	human	known	70_37	missense	SNP	0.914	A
NSF	4905	genome.wustl.edu	37	17	44788416	44788416	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:44788416G>A	ENST00000398238.4	+	14	1665	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	NSF_ENST00000575068.1_Missense_Mutation_p.D515N|NSF_ENST00000225282.8_Missense_Mutation_p.D426N	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	520					exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		AGTTCTAGATGATGGGGAGCT	0.448																																					Ovarian(25;472 742 1472 36813 50223)												0													79.0	79.0	79.0					17																	44788416		2032	4196	6228	SO:0001583	missense	4905				CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"""ATPases / AAA-type"""	8016	protein-coding gene	gene with protein product	"""N-ethylmaleimide-sensitive factor-like protein"""	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1558G>A	17.37:g.44788416G>A	ENSP00000381293:p.Asp520Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Cdc48_dom2,pfam_CDC4_N-term_subdom,pfam_ATPase_AAA-2,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase	p.D520N	ENST00000398238.4	37	c.1558	CCDS42354.1	17	.	.	.	.	.	.	.	.	.	.	G	26.6	4.758105	0.89843	.	.	ENSG00000073969	ENST00000398238;ENST00000225282	T;T	0.50548	0.74;0.74	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.52158	0.1717	L	0.56769	1.78	0.80722	D	1	P	0.51537	0.946	P	0.46659	0.523	T	0.43278	-0.9401	10	0.20046	T	0.44	-23.3133	19.8362	0.96658	0.0:0.0:1.0:0.0	.	520	P46459	NSF_HUMAN	N	520;426	ENSP00000381293:D520N;ENSP00000225282:D426N	ENSP00000225282:D426N	D	+	1	0	NSF	42143599	1.000000	0.71417	0.996000	0.52242	0.748000	0.42578	7.951000	0.87819	2.690000	0.91761	0.563000	0.77884	GAT	NSF	-	NULL		0.448	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSF	HGNC	protein_coding	OTTHUMT00000259348.2	G	NM_006178		44788416	+1	no_errors	ENST00000398238	ensembl	human	known	70_37	missense	SNP	1.000	A
NSUN4	387338	genome.wustl.edu	37	1	46809451	46809451	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:46809451C>T	ENST00000474844.1	+	2	743				NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Intron|NSUN4_ENST00000537428.1_Intron	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4						rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					TAGCAGAGGTCAGGGCAAGAG	0.512																																																	0																																										SO:0001627	intron_variant	387338			AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.94-1022C>T	1.37:g.46809451C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	RNA	SNP	-	NULL	ENST00000474844.1	37	NULL	CCDS534.1	1																																																																																			NSUN4	-	-		0.512	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN4	HGNC	protein_coding	OTTHUMT00000021427.1	C	NM_199044		46809451	+1	no_errors	ENST00000495427	ensembl	human	known	70_37	rna	SNP	0.001	T
NT5DC2	64943	genome.wustl.edu	37	3	52558597	52558597	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52558597G>A	ENST00000307076.4	-	14	1852	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	NT5DC2_ENST00000459839.1_Silent_p.T496T|NT5DC2_ENST00000422318.2_Silent_p.T521T|NT5DC2_ENST00000307092.4_Silent_p.T425T	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	484							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GTGGGTAGAAGGTGAAGTCCA	0.627																																																	0													84.0	76.0	78.0					3																	52558597		2203	4300	6503	SO:0001819	synonymous_variant	64943			AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1452C>T	3.37:g.52558597G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Silent	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.T521	ENST00000307076.4	37	c.1563	CCDS2858.1	3																																																																																			NT5DC2	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase		0.627	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NT5DC2	HGNC	protein_coding	OTTHUMT00000351509.1	G	NM_022908		52558597	-1	no_errors	ENST00000422318	ensembl	human	known	70_37	silent	SNP	1.000	A
NT5DC2	64943	genome.wustl.edu	37	3	52562533	52562533	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52562533C>T	ENST00000307076.4	-	5	860	c.460G>A	c.(460-462)Gag>Aag	p.E154K	NT5DC2_ENST00000459839.1_Missense_Mutation_p.E166K|NT5DC2_ENST00000422318.2_Missense_Mutation_p.E191K|NT5DC2_ENST00000307092.4_Missense_Mutation_p.E95K|NT5DC2_ENST00000490681.1_5'Flank	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	154							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		ATCACCTCCTCGTCTGGCACA	0.602																																																	0													85.0	78.0	80.0					3																	52562533		2203	4300	6503	SO:0001583	missense	64943			AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.460G>A	3.37:g.52562533C>T	ENSP00000302468:p.Glu154Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.E191K	ENST00000307076.4	37	c.571	CCDS2858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.56|14.56	2.573170|2.573170	0.45902|0.45902	.|.	.|.	ENSG00000168268|ENSG00000168268	ENST00000307092;ENST00000307076;ENST00000422318;ENST00000459839;ENST00000471522|ENST00000489316	T;T;T;T;T|.	0.27402|.	1.67;1.67;1.67;1.67;1.67|.	4.8|4.8	4.8|4.8	0.61643|0.61643	HAD-like domain (1);|.	0.103999|.	0.64402|.	D|.	0.000005|.	T|T	0.59197|0.59197	0.2176|0.2176	L|L	0.48260|0.48260	1.515|1.515	0.52501|0.52501	D|D	0.999959|0.999959	P;P;P|.	0.44946|.	0.846;0.53;0.53|.	B;B;B|.	0.40375|.	0.327;0.086;0.124|.	T|T	0.56595|0.56595	-0.7953|-0.7953	10|5	0.56958|.	D|.	0.05|.	-19.1494|-19.1494	11.3901|11.3901	0.49809|0.49809	0.0:0.9162:0.0:0.0838|0.0:0.9162:0.0:0.0838	.|.	166;154;191|.	C9JTZ6;Q9H857;E9PAL9|.	.;NT5D2_HUMAN;.|.	K|Q	95;154;191;166;24|97	ENSP00000306017:E95K;ENSP00000302468:E154K;ENSP00000406933:E191K;ENSP00000419547:E166K;ENSP00000418583:E24K|.	ENSP00000302468:E154K|.	E|R	-|-	1|2	0|0	NT5DC2|NT5DC2	52537573|52537573	1.000000|1.000000	0.71417|0.71417	0.772000|0.772000	0.31596|0.31596	0.241000|0.241000	0.25554|0.25554	5.782000|5.782000	0.68973|0.68973	2.237000|2.237000	0.73441|0.73441	0.313000|0.313000	0.20887|0.20887	GAG|CGA	NT5DC2	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl		0.602	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NT5DC2	HGNC	protein_coding	OTTHUMT00000351509.1	C	NM_022908		52562533	-1	no_errors	ENST00000422318	ensembl	human	known	70_37	missense	SNP	1.000	T
NT5DC4	284958	genome.wustl.edu	37	2	113480079	113480079	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:113480079G>C	ENST00000327581.4	+	5	355	c.304G>C	c.(304-306)Gag>Cag	p.E102Q				Q86YG4	NT5D4_HUMAN	5'-nucleotidase domain containing 4	102							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)										CCTCAGGGCAGAGATCTGGAG	0.592																																																	0																																										SO:0001583	missense	284958			BC041437		2q13	2012-04-20			ENSG00000144130	ENSG00000144130			27678	protein-coding gene	gene with protein product							Standard	XM_001716359		Approved		uc002tid.3	Q86YG4	OTTHUMG00000153308	ENST00000327581.4:c.304G>C	2.37:g.113480079G>C	ENSP00000330247:p.Glu102Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IG_5-nucl	p.E102Q	ENST00000327581.4	37	c.304		2	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238561	0.39598	.	.	ENSG00000144130	ENST00000327581	T	0.32023	1.47	4.47	4.47	0.54385	HAD-like domain (1);	0.200634	0.40818	N	0.001009	T	0.25269	0.0614	.	.	.	0.34831	D	0.739731	B	0.33198	0.401	B	0.34722	0.188	T	0.33929	-0.9849	9	0.26408	T	0.33	-23.3031	14.6622	0.68879	0.0:0.0:1.0:0.0	.	102	Q86YG4	NT5D4_HUMAN	Q	102	ENSP00000330247:E102Q	ENSP00000330247:E102Q	E	+	1	0	NT5DC4	113196550	0.998000	0.40836	0.725000	0.30721	0.480000	0.33159	3.029000	0.49712	2.016000	0.59253	0.563000	0.77884	GAG	NT5DC4	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IG_5-nucl		0.592	NT5DC4-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	NT5DC4	HGNC	protein_coding	OTTHUMT00000330647.1	G	XM_001716541		113480079	+1	no_errors	ENST00000327581	ensembl	human	novel	70_37	missense	SNP	0.993	C
NT5DC4	284958	genome.wustl.edu	37	2	113484277	113484277	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:113484277G>A	ENST00000327581.4	+	15	1183	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	NT5DC4_ENST00000497526.1_3'UTR			Q86YG4	NT5D4_HUMAN	5'-nucleotidase domain containing 4	378							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)										GAGCAGTTGTGAGCTGCAAGT	0.602											OREG0014901	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001583	missense	284958			BC041437		2q13	2012-04-20			ENSG00000144130	ENSG00000144130			27678	protein-coding gene	gene with protein product							Standard	XM_001716359		Approved		uc002tid.3	Q86YG4	OTTHUMG00000153308	ENST00000327581.4:c.1132G>A	2.37:g.113484277G>A	ENSP00000330247:p.Glu378Lys	Somatic	1450	WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IG_5-nucl	p.E378K	ENST00000327581.4	37	c.1132		2	.	.	.	.	.	.	.	.	.	.	G	6.899	0.535348	0.13188	.	.	ENSG00000144130	ENST00000327581	T	0.23950	1.88	4.5	0.512	0.16994	HAD-like domain (1);	0.776043	0.12319	N	0.479495	T	0.14787	0.0357	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.19666	0.026	T	0.29366	-1.0014	9	0.30854	T	0.27	.	3.8478	0.08942	0.3627:0.0:0.4777:0.1595	.	378	Q86YG4	NT5D4_HUMAN	K	378	ENSP00000330247:E378K	ENSP00000330247:E378K	E	+	1	0	NT5DC4	113200748	0.001000	0.12720	0.003000	0.11579	0.012000	0.07955	0.825000	0.27393	-0.135000	0.11495	-1.216000	0.01612	GAG	NT5DC4	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom		0.602	NT5DC4-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	NT5DC4	HGNC	protein_coding	OTTHUMT00000330647.1	G	XM_001716541		113484277	+1	no_errors	ENST00000327581	ensembl	human	novel	70_37	missense	SNP	0.045	A
NTF4	4909	genome.wustl.edu	37	19	49565222	49565222	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:49565222G>C	ENST00000593537.1	-	1	32	c.33C>G	c.(31-33)atC>atG	p.I11M	CTB-60B18.18_ENST00000599209.1_lincRNA|NTF4_ENST00000451356.2_De_novo_Start_OutOfFrame|NTF4_ENST00000594938.1_5'Flank|CTB-60B18.12_ENST00000597865.1_RNA|NTF4_ENST00000301411.3_Missense_Mutation_p.I11M			P34130	NTF4_HUMAN	neurotrophin 4	11					adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		aaaggaggaggatggggaggg	0.592																																																	0													12.0	13.0	13.0					19																	49565222		1863	3526	5389	SO:0001583	missense	4909				CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"""Endogenous ligands"""	8024	protein-coding gene	gene with protein product	"""neurotrophic factor 4"""	162662	"""neurotrophin 5 (neurotrophin 4/5)"""	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.33C>G	19.37:g.49565222G>C	ENSP00000469455:p.Ile11Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FH56	Missense_Mutation	SNP	pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-4	p.I11M	ENST00000593537.1	37	c.33	CCDS12754.1	19	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572196	0.28092	.	.	ENSG00000167744	ENST00000301411	T	0.63744	-0.06	3.71	3.71	0.42584	.	0.407240	0.19024	N	0.124758	T	0.46014	0.1371	N	0.14661	0.345	0.25778	N	0.984765	B	0.20368	0.044	B	0.21917	0.037	T	0.48822	-0.9001	10	0.59425	D	0.04	-3.3641	13.2138	0.59844	0.0:0.0:1.0:0.0	.	11	P34130	NTF4_HUMAN	M	11	ENSP00000301411:I11M	ENSP00000301411:I11M	I	-	3	3	NTF4	54257034	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	1.646000	0.37249	2.030000	0.59900	0.313000	0.20887	ATC	NTF4	-	pirsf_Nerve_growth_factor-like		0.592	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NTF4	HGNC	protein_coding	OTTHUMT00000466258.1	G	NM_006179		49565222	-1	no_errors	ENST00000301411	ensembl	human	known	70_37	missense	SNP	1.000	C
NTNG1	22854	genome.wustl.edu	37	1	107867344	107867344	+	Silent	SNP	C	C	T	rs368215587		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:107867344C>T	ENST00000370068.1	+	3	1533	c.687C>T	c.(685-687)ttC>ttT	p.F229F	NTNG1_ENST00000370066.1_Silent_p.F229F|NTNG1_ENST00000370071.2_Silent_p.F229F|NTNG1_ENST00000370074.4_Silent_p.F229F|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370073.2_Silent_p.F229F|NTNG1_ENST00000370067.1_Silent_p.F229F|NTNG1_ENST00000370065.1_Silent_p.F229F|NTNG1_ENST00000370072.3_Silent_p.F229F|NTNG1_ENST00000370061.3_Silent_p.F229F|NTNG1_ENST00000370070.2_Silent_p.F229F|NTNG1_ENST00000542803.1_Silent_p.F229F			Q9Y2I2	NTNG1_HUMAN	netrin G1	229	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AAGACAGGTTCGCGTTTTTTG	0.418																																																	0													101.0	97.0	99.0					1																	107867344		2203	4300	6503	SO:0001819	synonymous_variant	22854			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.687C>T	1.37:g.107867344C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.F229	ENST00000370068.1	37	c.687	CCDS44180.1	1																																																																																			NTNG1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.418	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTNG1	HGNC	protein_coding	OTTHUMT00000030340.1	C	NM_014917		107867344	+1	no_errors	ENST00000370068	ensembl	human	known	70_37	silent	SNP	0.522	T
NTRK3	4916	genome.wustl.edu	37	15	88799372	88799372	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:88799372G>C	ENST00000360948.2	-	2	174	c.13C>G	c.(13-15)Ctt>Gtt	p.L5V	NTRK3_ENST00000317501.3_Missense_Mutation_p.L5V|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000355254.2_Missense_Mutation_p.L5V|NTRK3_ENST00000357724.2_Missense_Mutation_p.L5V|NTRK3_ENST00000540489.2_Missense_Mutation_p.L5V|NTRK3_ENST00000557856.1_Missense_Mutation_p.L5V|NTRK3_ENST00000394480.2_Missense_Mutation_p.L5V|NTRK3_ENST00000558676.1_Missense_Mutation_p.L5V	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	5					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTGGGCAAAGAGAGACATCC	0.577			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	0													154.0	132.0	139.0					15																	88799372		2201	4299	6500	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.13C>G	15.37:g.88799372G>C	ENSP00000354207:p.Leu5Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L5V	ENST00000360948.2	37	c.13	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	g	12.26	1.883150	0.33255	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000540489;ENST00000317501	T;T;T;T;T;T	0.74947	-0.89;-0.85;-0.85;-0.89;-0.16;-0.16	3.59	3.59	0.41128	.	.	.	.	.	T	0.54759	0.1878	N	0.08118	0	0.25829	N	0.984197	B;B;B;B;B	0.29037	0.225;0.092;0.231;0.072;0.043	B;B;B;B;B	0.25140	0.02;0.011;0.037;0.058;0.026	T	0.43212	-0.9405	9	0.27082	T	0.32	.	14.1665	0.65480	0.0:0.0:1.0:0.0	.	5;5;5;5;5	E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	V	5	ENSP00000377990:L5V;ENSP00000354207:L5V;ENSP00000350356:L5V;ENSP00000347397:L5V;ENSP00000444673:L5V;ENSP00000318328:L5V	ENSP00000318328:L5V	L	-	1	0	NTRK3	86600376	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.447000	0.60020	1.728000	0.51552	0.450000	0.29827	CTT	NTRK3	-	prints_Tyr_kin_neurotrophic_rcpt_3		0.577	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		G			88799372	-1	no_errors	ENST00000360948	ensembl	human	known	70_37	missense	SNP	1.000	C
NUBPL	80224	genome.wustl.edu	37	14	32315700	32315700	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:32315700G>C	ENST00000281081.7	+	9	762	c.717G>C	c.(715-717)atG>atC	p.M239I	NUBPL_ENST00000536705.1_Missense_Mutation_p.M143I|NUBPL_ENST00000418681.2_3'UTR	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	239					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		TCCAAAACATGAGTGTTTTCC	0.338																																																	0													102.0	94.0	97.0					14																	32315700		1836	4093	5929	SO:0001583	missense	80224			AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"""Mitochondrial respiratory chain complex assembly factors"""	20278	protein-coding gene	gene with protein product	"""iron-sulfur protein required for NADH dehydrogenase"""	613621	"""chromosome 14 open reading frame 127"""	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.717G>C	14.37:g.32315700G>C	ENSP00000281081:p.Met239Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DHZ1|Q86TZ4|Q9H9M2	Missense_Mutation	SNP	pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1	p.M239I	ENST00000281081.7	37	c.717	CCDS41940.1	14	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437952	0.83885	.	.	ENSG00000151413	ENST00000550649;ENST00000281081;ENST00000536705	T;T;T	0.48836	0.8;0.8;0.8	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.83524	0.5273	H	0.99712	4.72	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90863	0.4740	10	0.87932	D	0	-25.2455	17.171	0.86830	0.0:0.0:1.0:0.0	.	143;239	B4DWB0;Q8TB37	.;NUBPL_HUMAN	I	105;239;143	ENSP00000447618:M105I;ENSP00000281081:M239I;ENSP00000439286:M143I	ENSP00000281081:M239I	M	+	3	0	NUBPL	31385451	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.074000	0.89500	2.656000	0.90262	0.655000	0.94253	ATG	NUBPL	-	pfam_ATPase-like_ParA/MinD		0.338	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUBPL	HGNC	protein_coding	OTTHUMT00000409519.1	G	NM_025152		32315700	+1	no_errors	ENST00000281081	ensembl	human	known	70_37	missense	SNP	1.000	C
NUDCD3	23386	genome.wustl.edu	37	7	44524810	44524810	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:44524810C>T	ENST00000355451.7	-	2	545	c.266G>A	c.(265-267)aGa>aAa	p.R89K		NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	89										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						TTCCTTTCTTCTGATTTTCTC	0.473																																																	0													73.0	80.0	78.0					7																	44524810		2203	4299	6502	SO:0001583	missense	23386			BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.266G>A	7.37:g.44524810C>T	ENSP00000347626:p.Arg89Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BTI3|Q9H7W9|Q9UPT4	Missense_Mutation	SNP	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.R89K	ENST00000355451.7	37	c.266	CCDS5490.2	7	.	.	.	.	.	.	.	.	.	.	C	9.345	1.064023	0.20067	.	.	ENSG00000015676	ENST00000355451	T	0.55760	0.5	5.45	5.45	0.79879	.	0.280965	0.41001	D	0.000969	T	0.37156	0.0993	N	0.16656	0.425	0.38287	D	0.942584	B	0.23591	0.088	B	0.21360	0.034	T	0.25537	-1.0129	10	0.26408	T	0.33	-16.7975	15.1103	0.72351	0.0:1.0:0.0:0.0	.	89	Q8IVD9	NUDC3_HUMAN	K	89	ENSP00000347626:R89K	ENSP00000347626:R89K	R	-	2	0	NUDCD3	44491335	0.991000	0.36638	0.411000	0.26484	0.966000	0.64601	0.875000	0.28079	2.705000	0.92388	0.563000	0.77884	AGA	NUDCD3	-	NULL		0.473	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD3	HGNC	protein_coding	OTTHUMT00000251248.3	C	NM_015332		44524810	-1	no_errors	ENST00000355451	ensembl	human	known	70_37	missense	SNP	0.915	T
NUP153	9972	genome.wustl.edu	37	6	17669684	17669684	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:17669684C>G	ENST00000262077.2	-	6	945	c.946G>C	c.(946-948)Gag>Cag	p.E316Q	NUP153_ENST00000537253.1_Missense_Mutation_p.E316Q	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	316					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GACATCTTCTCTAAAGACTGC	0.348																																																	0													79.0	81.0	80.0					6																	17669684		2203	4300	6503	SO:0001583	missense	9972			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.946G>C	6.37:g.17669684C>G	ENSP00000262077:p.Glu316Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.E316Q	ENST00000262077.2	37	c.946	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	C	32	5.155791	0.94686	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.54479	0.57;0.57	5.64	5.64	0.86602	Nucleoporin, Nup153-like (1);	0.000000	0.51477	D	0.000083	T	0.71921	0.3397	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.74819	-0.3535	10	0.72032	D	0.01	-15.8855	19.7093	0.96085	0.0:1.0:0.0:0.0	.	316;338;316	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	Q	316;338;316	ENSP00000262077:E316Q;ENSP00000444029:E316Q	ENSP00000262077:E316Q	E	-	1	0	NUP153	17777663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.203000	0.77864	2.660000	0.90430	0.563000	0.77884	GAG	NUP153	-	pfam_Nucleoporin_Nup153		0.348	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	C			17669684	-1	no_errors	ENST00000537253	ensembl	human	known	70_37	missense	SNP	1.000	G
NUDT3	11165	genome.wustl.edu	37	6	34309715	34309715	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:34309715C>T	ENST00000607016.1	-	2	445	c.134G>A	c.(133-135)aGa>aAa	p.R45K	RPS10-NUDT3_ENST00000605528.1_Missense_Mutation_p.R164K	NM_006703.3	NP_006694.1	O95989	NUDT3_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 3	45	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cell-cell signaling (GO:0007267)|diadenosine polyphosphate catabolic process (GO:0015961)|diphosphoinositol polyphosphate catabolic process (GO:0071544)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|magnesium ion binding (GO:0000287)			lung(2)	2						GACAATCCATCTGTCTGGATG	0.522																																					GBM(96;1206 1939 18658 39482)												0													139.0	106.0	117.0					6																	34309715		2203	4300	6503	SO:0001583	missense	11165			AF062530	CCDS4791.1	6p21.2	2014-07-16			ENSG00000272325	ENSG00000272325		"""Nudix motif containing"""	8050	protein-coding gene	gene with protein product		609228				9822604	Standard	NM_006703		Approved	DIPP		O95989	OTTHUMG00000014545	ENST00000607016.1:c.134G>A	6.37:g.34309715C>T	ENSP00000476119:p.Arg45Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8N4	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.R45K	ENST00000607016.1	37	c.134	CCDS4791.1	6	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263057	0.23051	.	.	ENSG00000112664	ENST00000358797	T	0.07800	3.16	5.66	4.6	0.57074	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.174251	0.37669	N	0.001997	T	0.01730	0.0055	L	0.28014	0.82	0.37015	D	0.895904	B	0.02656	0.0	B	0.01281	0.0	T	0.31586	-0.9938	10	0.02654	T	1	-6.5372	10.7171	0.46019	0.0:0.8373:0.0:0.1627	.	45	O95989	NUDT3_HUMAN	K	45	ENSP00000351650:R45K	ENSP00000351650:R45K	R	-	2	0	NUDT3	34417693	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.513000	0.53414	2.674000	0.91012	0.585000	0.79938	AGA	NUDT3	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like		0.522	NUDT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT3	HGNC	protein_coding	OTTHUMT00000040224.2	C			34309715	-1	no_errors	ENST00000358797	ensembl	human	known	70_37	missense	SNP	1.000	T
NUP37	79023	genome.wustl.edu	37	12	102505983	102505983	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:102505983G>C	ENST00000552283.1	-	3	323	c.184C>G	c.(184-186)Cag>Gag	p.Q62E	NUP37_ENST00000251074.1_Missense_Mutation_p.Q62E|NUP37_ENST00000543021.1_5'UTR			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	62					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						GTTTTATACTGAATGCCTTCA	0.358																																																	0													166.0	142.0	150.0					12																	102505983		2203	4300	6503	SO:0001583	missense	79023			AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.184C>G	12.37:g.102505983G>C	ENSP00000448054:p.Gln62Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H644	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q62E	ENST00000552283.1	37	c.184	CCDS9089.1	12	.	.	.	.	.	.	.	.	.	.	G	2.017	-0.425600	0.04701	.	.	ENSG00000075188	ENST00000552283;ENST00000251074;ENST00000551744	T;T	0.27720	1.65;1.65	5.43	4.53	0.55603	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.110360	0.64402	D	0.000010	T	0.10551	0.0258	N	0.01438	-0.865	0.35014	D	0.757218	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17715	-1.0360	10	0.13108	T	0.6	-3.1602	9.8599	0.41107	0.0734:0.1396:0.787:0.0	.	62;62	B4DKV8;Q8NFH4	.;NUP37_HUMAN	E	62	ENSP00000448054:Q62E;ENSP00000251074:Q62E	ENSP00000251074:Q62E	Q	-	1	0	NUP37	101030113	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	4.768000	0.62293	1.417000	0.47077	0.585000	0.79938	CAG	NUP37	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.358	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP37	HGNC	protein_coding	OTTHUMT00000409330.1	G	NM_024057		102505983	-1	no_errors	ENST00000251074	ensembl	human	known	70_37	missense	SNP	1.000	C
NUP93	9688	genome.wustl.edu	37	16	56839461	56839461	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:56839461G>A	ENST00000308159.5	+	5	527	c.406G>A	c.(406-408)Gag>Aag	p.E136K	NUP93_ENST00000564887.1_Missense_Mutation_p.E13K|NUP93_ENST00000542526.1_Missense_Mutation_p.E13K|NUP93_ENST00000569842.1_Missense_Mutation_p.E136K|NUP93_ENST00000569595.1_3'UTR	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	136					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AATGTTGGTTGAGTGGGAGCA	0.468																																					Colon(33;610 796 1305 1705 38917)												0													99.0	91.0	94.0					16																	56839461		2198	4300	6498	SO:0001583	missense	9688			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.406G>A	16.37:g.56839461G>A	ENSP00000310668:p.Glu136Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPQ8|Q14705	Missense_Mutation	SNP	pfam_Nucleoporin_int_Nup93/Nic96	p.E136K	ENST00000308159.5	37	c.406	CCDS10769.1	16	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807416	0.90623	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.51574	0.8;0.7	5.19	5.19	0.71726	.	0.047684	0.85682	D	0.000000	T	0.57330	0.2046	M	0.72353	2.195	0.50632	D	0.99988	P	0.48640	0.913	P	0.47470	0.548	T	0.61078	-0.7135	10	0.46703	T	0.11	-22.7896	18.3152	0.90218	0.0:0.0:1.0:0.0	.	136	Q8N1F7	NUP93_HUMAN	K	136;13	ENSP00000310668:E136K;ENSP00000440235:E13K	ENSP00000310668:E136K	E	+	1	0	NUP93	55396962	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	5.554000	0.67294	2.404000	0.81709	0.561000	0.74099	GAG	NUP93	-	NULL		0.468	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	HGNC	protein_coding	OTTHUMT00000257058.4	G	NM_014669		56839461	+1	no_errors	ENST00000308159	ensembl	human	known	70_37	missense	SNP	0.998	A
NXPH2	11249	genome.wustl.edu	37	2	139428603	139428603	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:139428603G>C	ENST00000272641.3	-	2	790	c.684C>G	c.(682-684)ttC>ttG	p.F228L		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	228	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		AAATGACCTTGAAGGGCTTGG	0.463																																																	0													90.0	86.0	87.0					2																	139428603		1921	4134	6055	SO:0001583	missense	11249			AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.684C>G	2.37:g.139428603G>C	ENSP00000272641:p.Phe228Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	pfam_NXPH/NXPE,pirsf_Neurexophilin	p.F228L	ENST00000272641.3	37	c.684	CCDS46421.1	2	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608170	0.66558	.	.	ENSG00000144227	ENST00000272641	.	.	.	5.51	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.75722	0.3888	M	0.73962	2.25	0.54753	D	0.999985	D	0.76494	0.999	D	0.83275	0.996	T	0.76350	-0.2991	8	.	.	.	-20.3065	10.6591	0.45692	0.217:0.0:0.783:0.0	.	228	O95156	NXPH2_HUMAN	L	228	.	.	F	-	3	2	NXPH2	139145073	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.782000	0.38654	1.442000	0.47568	0.655000	0.94253	TTC	NXPH2	-	pfam_NXPH/NXPE,pirsf_Neurexophilin		0.463	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH2	HGNC	protein_coding	OTTHUMT00000331901.1	G			139428603	-1	no_errors	ENST00000272641	ensembl	human	known	70_37	missense	SNP	1.000	C
NYNRIN	57523	genome.wustl.edu	37	14	24883998	24883998	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:24883998G>A	ENST00000382554.3	+	9	3361	c.3043G>A	c.(3043-3045)Gag>Aag	p.E1015K		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1015					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GAAGGCGGCTGAGGAGGACGA	0.617																																																	0													91.0	123.0	112.0					14																	24883998		2202	4294	6496	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3043G>A	14.37:g.24883998G>A	ENSP00000371994:p.Glu1015Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.E1015K	ENST00000382554.3	37	c.3043	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533151	0.45073	.	.	ENSG00000205978	ENST00000382554	T	0.14893	2.47	4.36	3.47	0.39725	.	.	.	.	.	T	0.15955	0.0384	L	0.47716	1.5	0.09310	N	1	B	0.19445	0.036	B	0.15870	0.014	T	0.17289	-1.0374	9	0.72032	D	0.01	.	8.032	0.30470	0.1118:0.0:0.8882:0.0	.	1015	Q9P2P1	NYNRI_HUMAN	K	1015	ENSP00000371994:E1015K	ENSP00000371994:E1015K	E	+	1	0	NYNRIN	23953838	0.428000	0.25522	0.041000	0.18516	0.034000	0.12701	0.554000	0.23407	1.044000	0.40200	0.313000	0.20887	GAG	NYNRIN	-	NULL		0.617	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	G			24883998	+1	no_errors	ENST00000382554	ensembl	human	known	70_37	missense	SNP	0.233	A
OAZ3	51686	genome.wustl.edu	37	1	151739351	151739351	+	5'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:151739351C>T	ENST00000479764.1	+	0	3298				RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000453029.2_Intron|OAZ3_ENST00000315067.8_Intron|OAZ3_ENST00000577465.1_3'UTR|RP11-98D18.16_ENST00000596133.1_RNA|OAZ3_ENST00000321531.5_Intron|RP11-98D18.2_ENST00000420382.1_RNA|OAZ3_ENST00000400999.1_5'UTR			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3						cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of polyamine transmembrane transport (GO:1902268)|polyamine biosynthetic process (GO:0006596)|positive regulation of protein catabolic process (GO:0045732)|putrescine transport (GO:0015847)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of phosphoprotein phosphatase activity (GO:0043666)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ornithine decarboxylase inhibitor activity (GO:0008073)|putrescine transmembrane transporter activity (GO:0015489)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	GATGCTGCCTCGTTGTTATAA	0.378																																																	0													72.0	62.0	65.0					1																	151739351		1878	4101	5979	SO:0001623	5_prime_UTR_variant	51686			AF175296	CCDS58028.1	1q21.3	2008-02-05			ENSG00000143450	ENSG00000143450			8097	protein-coding gene	gene with protein product		605138				10781085	Standard	NM_016178		Approved		uc010pdm.2	Q9UMX2	OTTHUMG00000013061	ENST00000479764.1:c.-219C>T	1.37:g.151739351C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E7EUE7|Q6GMR0	RNA	SNP	-	NULL	ENST00000479764.1	37	NULL		1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.152900	0.38021	.	.	ENSG00000143450	ENST00000321531	.	.	.	2.79	1.49	0.22878	.	.	.	.	.	T	0.23965	0.0580	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07195	-1.0785	5	0.21014	T	0.42	7.1908	4.6476	0.12579	0.0:0.16:0.0:0.84	.	.	.	.	C	52	.	ENSP00000313922:R52C	R	+	1	0	OAZ3	150005975	1.000000	0.71417	0.987000	0.45799	0.640000	0.38277	1.433000	0.34947	0.460000	0.27045	-0.672000	0.03802	CGT	OAZ3	-	-		0.378	OAZ3-001	PUTATIVE	basic|exp_conf	protein_coding	OAZ3	HGNC	protein_coding	OTTHUMT00000036642.2	C	NM_016178		151739351	+1	no_errors	ENST00000577465	ensembl	human	known	70_37	rna	SNP	0.993	T
OBP2B	29989	genome.wustl.edu	37	9	136083256	136083256	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:136083256C>T	ENST00000372034.3	-	3	319				OBP2B_ENST00000372032.2_Intron|OBP2B_ENST00000461961.1_Intron	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B						chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TCCCAATCCTCAGCTTCCTCA	0.577																																																	0																																										SO:0001627	intron_variant	29989			AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.277+263G>A	9.37:g.136083256C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VSP6|Q9NY51|Q9NY52	Silent	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland	p.L118	ENST00000372034.3	37	c.354	CCDS6961.1	9																																																																																			OBP2B	-	NULL		0.577	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OBP2B	HGNC	protein_coding	OTTHUMT00000054851.1	C	NM_014581		136083256	-1	no_errors	ENST00000473737	ensembl	human	known	70_37	silent	SNP	0.002	T
OC90	729330	genome.wustl.edu	37	8	133051046	133051046	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:133051046G>C	ENST00000443356.2	-	8	705	c.619C>G	c.(619-621)Ctg>Gtg	p.L207V	OC90_ENST00000262283.5_Missense_Mutation_p.L403V|OC90_ENST00000603859.1_Missense_Mutation_p.L207V|OC90_ENST00000254627.3_Missense_Mutation_p.L207V			Q02509	OC90_HUMAN	otoconin 90	207					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCTCTGGGCAGAAGTGTTGTC	0.537																																																	0													83.0	88.0	86.0					8																	133051046		1914	4122	6036	SO:0001583	missense	729330			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.619C>G	8.37:g.133051046G>C	ENSP00000390050:p.Leu207Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNG8	Missense_Mutation	SNP	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk	p.L207V	ENST00000443356.2	37	c.619		8	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020732	0.35606	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.31510	1.5;1.51;1.49	3.78	1.85	0.25348	.	0.929503	0.08885	N	0.879491	T	0.14527	0.0351	L	0.29908	0.895	0.09310	N	1	B;P	0.40578	0.27;0.722	B;B	0.30495	0.116;0.114	T	0.07195	-1.0785	10	0.02654	T	1	-0.1157	6.5698	0.22533	0.1041:0.1815:0.7144:0.0	.	207;207	Q02509-2;Q02509	.;OC90_HUMAN	V	207;207;403	ENSP00000254627:L207V;ENSP00000390050:L207V;ENSP00000262283:L403V	ENSP00000254627:L207V	L	-	1	2	RP11-240B13.2;OC90	133120228	0.001000	0.12720	0.095000	0.20976	0.352000	0.29268	0.819000	0.27308	0.338000	0.23692	0.561000	0.74099	CTG	OC90	-	NULL		0.537	OC90-201	KNOWN	basic	protein_coding	OC90	HGNC	protein_coding		G	NM_001080399		133051046	-1	no_errors	ENST00000443356	ensembl	human	known	70_37	missense	SNP	0.002	C
ODF2	4957	genome.wustl.edu	37	9	131222883	131222883	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:131222883G>A	ENST00000434106.3	+	4	486				ODF2_ENST00000604420.1_Intron|ODF2_ENST00000372814.3_Intron|ODF2_ENST00000448249.3_Missense_Mutation_p.E16K|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000444119.2_Missense_Mutation_p.E16K|ODF2_ENST00000535026.1_Missense_Mutation_p.E16K|ODF2_ENST00000393527.3_Missense_Mutation_p.E16K|ODF2_ENST00000351030.3_Missense_Mutation_p.E16K|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000372807.5_Missense_Mutation_p.E16K|ODF2_ENST00000393533.2_Intron	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						TCACGTGGATGAGAACACCCC	0.542																																																	0													139.0	113.0	122.0					9																	131222883		2203	4300	6503	SO:0001627	intron_variant	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.124-338G>A	9.37:g.131222883G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	NULL	p.E16K	ENST00000434106.3	37	c.46	CCDS56588.1	9	.	.	.	.	.	.	.	.	.	.	G	33	5.201239	0.94997	.	.	ENSG00000136811	ENST00000351030;ENST00000303890;ENST00000448249;ENST00000535026;ENST00000421776;ENST00000444119	T;T;T;T	0.48201	1.78;1.72;0.82;1.72	5.83	5.83	0.93111	.	.	.	.	.	T	0.65059	0.2655	L	0.50333	1.59	0.44201	D	0.997026	D;D;D;D	0.67145	0.986;0.996;0.975;0.986	P;D;P;P	0.73708	0.73;0.981;0.719;0.73	T	0.64407	-0.6415	9	0.62326	D	0.03	.	18.6875	0.91570	0.0:0.0:1.0:0.0	.	16;16;16;16	Q5BJF6-4;Q5BJF6-9;B1AND4;Q5BJF6-3	.;.;.;.	K	16	ENSP00000342581:E16K;ENSP00000307781:E16K;ENSP00000396687:E16K;ENSP00000394506:E16K	ENSP00000307781:E16K	E	+	1	0	ODF2	130262704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.573000	0.74009	2.759000	0.94783	0.561000	0.74099	GAG	ODF2	-	NULL		0.542	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	G			131222883	+1	no_errors	ENST00000351030	ensembl	human	known	70_37	missense	SNP	1.000	A
ODF2	4957	genome.wustl.edu	37	9	131223280	131223280	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:131223280G>C	ENST00000434106.3	+	4	546	c.183G>C	c.(181-183)gtG>gtC	p.V61V	ODF2_ENST00000604420.1_Silent_p.V61V|ODF2_ENST00000372814.3_Silent_p.V105V|ODF2_ENST00000448249.3_Silent_p.V56V|ODF2_ENST00000546203.1_Silent_p.V61V|ODF2_ENST00000444119.2_Silent_p.V56V|ODF2_ENST00000535026.1_Silent_p.V56V|ODF2_ENST00000393527.3_Silent_p.V56V|ODF2_ENST00000351030.3_Silent_p.V56V|ODF2_ENST00000372791.3_Silent_p.V61V|ODF2_ENST00000372807.5_Silent_p.V56V|ODF2_ENST00000393533.2_Silent_p.V61V	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	61					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GTGTCCGGGTGAAAACCAAGG	0.567																																																	0													114.0	106.0	109.0					9																	131223280		2203	4300	6503	SO:0001819	synonymous_variant	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.183G>C	9.37:g.131223280G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	NULL	p.V61	ENST00000434106.3	37	c.183	CCDS56588.1	9																																																																																			ODF2	-	NULL		0.567	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	G			131223280	+1	no_errors	ENST00000372796	ensembl	human	known	70_37	silent	SNP	1.000	C
ODF2	4957	genome.wustl.edu	37	9	131223380	131223380	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:131223380G>A	ENST00000434106.3	+	4	612				ODF2_ENST00000604420.1_Intron|ODF2_ENST00000372814.3_Intron|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000444119.2_Intron|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000393527.3_Intron|ODF2_ENST00000351030.3_Intron|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000372807.5_Intron|ODF2_ENST00000393533.2_Intron	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						TTTCTTCTCGGACTGCTCAGA	0.542																																																	0																																										SO:0001627	intron_variant	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.249+34G>A	9.37:g.131223380G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	RNA	SNP	-	NULL	ENST00000434106.3	37	NULL	CCDS56588.1	9																																																																																			ODF2	-	-		0.542	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	G			131223380	+1	no_errors	ENST00000494663	ensembl	human	known	70_37	rna	SNP	1.000	A
ODF2L	57489	genome.wustl.edu	37	1	86822207	86822207	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:86822207G>A	ENST00000359242.3	-	14	1719	c.1438C>T	c.(1438-1440)Cac>Tac	p.H480Y	ODF2L_ENST00000370567.1_Missense_Mutation_p.H451Y|ODF2L_ENST00000370566.3_Intron|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000394731.1_Missense_Mutation_p.H320Y|ODF2L_ENST00000317336.7_Missense_Mutation_p.H480Y|ODF2L_ENST00000294678.2_Missense_Mutation_p.H451Y	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	480						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TGACACTCGTGAAGCCTCCGT	0.567																																																	0													84.0	76.0	79.0					1																	86822207		2203	4300	6503	SO:0001583	missense	57489				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1438C>T	1.37:g.86822207G>A	ENSP00000359600:p.His480Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	NULL	p.H480Y	ENST00000359242.3	37	c.1438	CCDS41354.2	1	.	.	.	.	.	.	.	.	.	.	G	3.040	-0.197810	0.06219	.	.	ENSG00000122417	ENST00000441121;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000294678	T;T;T;T;T;T	0.78126	2.0;-1.11;2.0;2.01;2.0;-1.15	6.16	6.16	0.99307	.	1.138090	0.06137	N	0.671715	T	0.55401	0.1918	N	0.22421	0.69	0.25272	N	0.9895	B;P;P	0.38420	0.34;0.478;0.63	B;B;B	0.28709	0.093;0.093;0.093	T	0.61342	-0.7082	10	0.62326	D	0.03	7.4617	18.0158	0.89239	0.0:0.0:1.0:0.0	.	451;451;480	Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.;.;ODF2L_HUMAN	Y	451;480;327;480;451;320;451	ENSP00000359600:H480Y;ENSP00000433092:H327Y;ENSP00000320165:H480Y;ENSP00000359598:H451Y;ENSP00000378219:H320Y;ENSP00000294678:H451Y	ENSP00000294678:H451Y	H	-	1	0	ODF2L	86594795	1.000000	0.71417	0.975000	0.42487	0.183000	0.23260	4.098000	0.57748	2.937000	0.99478	0.650000	0.86243	CAC	ODF2L	-	NULL		0.567	ODF2L-001	KNOWN	basic|CCDS	protein_coding	ODF2L	HGNC	protein_coding	OTTHUMT00000027873.2	G			86822207	-1	no_errors	ENST00000317336	ensembl	human	known	70_37	missense	SNP	0.987	A
ODF3	113746	genome.wustl.edu	37	11	198241	198241	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:198241C>G	ENST00000325113.4	+	4	670	c.353C>G	c.(352-354)tCa>tGa	p.S118*	ODF3_ENST00000525282.1_Nonsense_Mutation_p.S118*|BET1L_ENST00000410108.1_Intron	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	118					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	outer dense fiber (GO:0001520)				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTGTTCGACTCAGCACCCAGC	0.592																																																	0													76.0	66.0	69.0					11																	198241		2203	4300	6503	SO:0001587	stop_gained	113746			AB067774	CCDS7688.1, CCDS65981.1	11p15.5	2010-04-23			ENSG00000177947	ENSG00000177947			19905	protein-coding gene	gene with protein product	"""cancer/testis antigen 135"""	608356				11870087	Standard	NM_001286136		Approved	SHIPPO1, hSHIPPO, CT135	uc001lob.3	Q96PU9	OTTHUMG00000119073	ENST00000325113.4:c.353C>G	11.37:g.198241C>G	ENSP00000325868:p.Ser118*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLT0|Q69YX0	Nonsense_Mutation	SNP	pfam_SHIPPO-rpt	p.S118*	ENST00000325113.4	37	c.353	CCDS7688.1	11	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705317	0.48412	.	.	ENSG00000177947	ENST00000325113;ENST00000525282	.	.	.	4.21	3.29	0.37713	.	0.188154	0.25756	N	0.028510	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-8.1343	8.2635	0.31799	0.0:0.8906:0.0:0.1094	.	.	.	.	X	118	.	ENSP00000325868:S118X	S	+	2	0	ODF3	188241	0.477000	0.25909	0.746000	0.31095	0.283000	0.27025	2.144000	0.42197	1.115000	0.41800	0.561000	0.74099	TCA	ODF3	-	NULL		0.592	ODF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF3	HGNC	protein_coding	OTTHUMT00000239287.1	C			198241	+1	no_errors	ENST00000325113	ensembl	human	known	70_37	nonsense	SNP	0.849	G
ODF4	146852	genome.wustl.edu	37	17	8248714	8248714	+	Missense_Mutation	SNP	G	G	C	rs140528575		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:8248714G>C	ENST00000328248.2	+	2	696	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	ODF4_ENST00000584943.1_Missense_Mutation_p.E55Q	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	170					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTGGATCTTCGAGTTGGAAAG	0.507																																																	0													296.0	259.0	272.0					17																	8248714		2203	4300	6503	SO:0001583	missense	146852			AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"""cancer/testis antigen 136"""	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.508G>C	17.37:g.8248714G>C	ENSP00000331086:p.Glu170Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8J021	Missense_Mutation	SNP	NULL	p.E170Q	ENST00000328248.2	37	c.508	CCDS11140.1	17	.	.	.	.	.	.	.	.	.	.	G	9.366	1.069366	0.20147	.	.	ENSG00000184650	ENST00000328248	T	0.27557	1.66	4.82	3.85	0.44370	.	0.000000	0.43747	D	0.000523	T	0.37758	0.1015	L	0.27053	0.805	0.28515	N	0.913373	D	0.89917	1.0	D	0.77004	0.989	T	0.11155	-1.0599	10	0.48119	T	0.1	-12.3446	8.9666	0.35881	0.101:0.0:0.899:0.0	.	170	Q2M2E3	ODFP4_HUMAN	Q	170	ENSP00000331086:E170Q	ENSP00000331086:E170Q	E	+	1	0	ODF4	8189439	1.000000	0.71417	0.675000	0.29917	0.667000	0.39255	2.573000	0.46007	1.259000	0.44117	0.514000	0.50259	GAG	ODF4	-	NULL		0.507	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF4	HGNC	protein_coding	OTTHUMT00000226996.1	G			8248714	+1	no_errors	ENST00000328248	ensembl	human	known	70_37	missense	SNP	0.713	C
OIT3	170392	genome.wustl.edu	37	10	74684129	74684129	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:74684129C>A	ENST00000334011.5	+	7	1312	c.1094C>A	c.(1093-1095)tCt>tAt	p.S365Y		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	365	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TACACCATTTCTGAAGGATAC	0.537																																					Colon(7;19 345 13446 17537)												0													71.0	71.0	71.0					10																	74684129		2203	4300	6503	SO:0001583	missense	170392				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1094C>A	10.37:g.74684129C>A	ENSP00000333900:p.Ser365Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVP3|Q8N1M8	Missense_Mutation	SNP	pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.S365Y	ENST00000334011.5	37	c.1094	CCDS7318.1	10	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794652	0.90453	.	.	ENSG00000138315	ENST00000334011	D	0.84873	-1.91	5.72	5.72	0.89469	Zona pellucida sperm-binding protein (3);	0.000000	0.56097	D	0.000024	D	0.91998	0.7465	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91543	0.5251	10	0.54805	T	0.06	-21.3215	19.879	0.96888	0.0:1.0:0.0:0.0	.	365	Q8WWZ8	OIT3_HUMAN	Y	365	ENSP00000333900:S365Y	ENSP00000333900:S365Y	S	+	2	0	OIT3	74354135	1.000000	0.71417	0.991000	0.47740	0.964000	0.63967	7.525000	0.81892	2.695000	0.91970	0.655000	0.94253	TCT	OIT3	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.537	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OIT3	HGNC	protein_coding	OTTHUMT00000048596.1	C	NM_152635		74684129	+1	no_errors	ENST00000334011	ensembl	human	known	70_37	missense	SNP	1.000	A
OMG	4974	genome.wustl.edu	37	17	29622065	29622065	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:29622065G>A	ENST00000247271.4	-	2	1546	c.1285C>T	c.(1285-1287)Ctc>Ttc	p.L429F	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	429					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		AGCAATAAGAGAAATGAAGCA	0.413																																																	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											155.0	141.0	146.0					17																	29622065		2203	4300	6503	SO:0001583	missense	4974				CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.1285C>T	17.37:g.29622065G>A	ENSP00000247271:p.Leu429Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P659	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L429F	ENST00000247271.4	37	c.1285	CCDS11265.1	17	.	.	.	.	.	.	.	.	.	.	G	8.263	0.811718	0.16537	.	.	ENSG00000126861	ENST00000247271	T	0.64803	-0.12	4.98	0.454	0.16644	.	0.416966	0.20375	N	0.093565	T	0.35537	0.0935	N	0.14661	0.345	0.24688	N	0.993321	B	0.02656	0.0	B	0.01281	0.0	T	0.21586	-1.0241	10	0.87932	D	0	-0.0457	0.8791	0.01230	0.2323:0.3269:0.2265:0.2143	.	429	P23515	OMGP_HUMAN	F	429	ENSP00000247271:L429F	ENSP00000247271:L429F	L	-	1	0	OMG	26646191	0.916000	0.31088	0.998000	0.56505	0.977000	0.68977	0.573000	0.23699	0.605000	0.29947	0.655000	0.94253	CTC	OMG	-	NULL		0.413	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMG	HGNC	protein_coding	OTTHUMT00000256350.2	G	NM_002544		29622065	-1	no_errors	ENST00000247271	ensembl	human	known	70_37	missense	SNP	0.211	A
VASP	7408	genome.wustl.edu	37	19	46032593	46032593	+	IGR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:46032593G>A	ENST00000245932.6	+	0	2305				OPA3_ENST00000323060.3_Silent_p.I88I	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein						actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		TGATGAAGATGATGCCCTCGC	0.637																																																	0													60.0	62.0	61.0					19																	46032593		2202	4300	6502	SO:0001628	intergenic_variant	80207				CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552			19.37:g.46032593G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBT9|Q6PIZ1|Q93035	Silent	SNP	pfam_OPA3-like	p.I88	ENST00000245932.6	37	c.264	CCDS33051.1	19																																																																																			OPA3	-	pfam_OPA3-like		0.637	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPA3	HGNC	protein_coding	OTTHUMT00000459589.1	G			46032593	-1	no_errors	ENST00000323060	ensembl	human	known	70_37	silent	SNP	1.000	A
OPTN	10133	genome.wustl.edu	37	10	13152294	13152294	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:13152294C>G	ENST00000378748.3	+	5	549	c.187C>G	c.(187-189)Caa>Gaa	p.Q63E	OPTN_ENST00000378752.3_Missense_Mutation_p.Q63E|OPTN_ENST00000263036.5_Missense_Mutation_p.Q63E|OPTN_ENST00000378757.2_Missense_Mutation_p.Q63E|OPTN_ENST00000378764.2_Missense_Mutation_p.Q63E|OPTN_ENST00000378747.3_Missense_Mutation_p.Q63E|OPTN_ENST00000482140.1_Intron	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	63	Interaction with Rab8.				cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GCTAAATAATCAAGCCATGAA	0.463																																																	0													48.0	51.0	50.0					10																	13152294		2203	4300	6503	SO:0001583	missense	10133			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"""glaucoma 1, open angle, E (adult-onset)"""	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.187C>G	10.37:g.13152294C>G	ENSP00000368022:p.Gln63Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	pfam_NEMO_N	p.Q63E	ENST00000378748.3	37	c.187	CCDS7094.1	10	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768090	0.69878	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000430081;ENST00000378747	D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.98	5.98	0.97165	NF-kappa-B essential modulator NEMO, N-terminal (1);	0.052320	0.85682	D	0.000000	D	0.87478	0.6187	L	0.54323	1.7	0.39639	D	0.970297	D;D	0.69078	0.997;0.989	D;P	0.65874	0.939;0.851	T	0.81942	-0.0702	10	0.07482	T	0.82	-20.7936	19.2148	0.93772	0.0:1.0:0.0:0.0	.	63;63	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	E	63;63;63;63;63;6;63	ENSP00000263036:Q63E;ENSP00000368040:Q63E;ENSP00000368032:Q63E;ENSP00000368027:Q63E;ENSP00000368022:Q63E;ENSP00000414747:Q6E;ENSP00000368021:Q63E	ENSP00000263036:Q63E	Q	+	1	0	OPTN	13192300	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.030000	0.49720	2.838000	0.97847	0.655000	0.94253	CAA	OPTN	-	pfam_NEMO_N		0.463	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPTN	HGNC	protein_coding	OTTHUMT00000046834.1	C	NM_021980		13152294	+1	no_errors	ENST00000263036	ensembl	human	known	70_37	missense	SNP	1.000	G
OR10Z1	128368	genome.wustl.edu	37	1	158576330	158576330	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:158576330G>A	ENST00000361284.1	+	1	102	c.102G>A	c.(100-102)ctG>ctA	p.L34L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCCTCTCTCTGTATCTAGTCA	0.507																																																	0													202.0	193.0	196.0					1																	158576330		2203	4300	6503	SO:0001819	synonymous_variant	128368			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.102G>A	1.37:g.158576330G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VYL0|Q6IFR7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L34	ENST00000361284.1	37	c.102	CCDS30901.1	1																																																																																			OR10Z1	-	prints_GPCR_Rhodpsn		0.507	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1	G	NM_001004478		158576330	+1	no_errors	ENST00000361284	ensembl	human	known	70_37	silent	SNP	0.308	A
OR14C36	127066	genome.wustl.edu	37	1	248512656	248512656	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:248512656G>C	ENST00000317861.1	+	1	580	c.580G>C	c.(580-582)Gag>Cag	p.E194Q		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CTTCAGCAATGAGGTCATGAT	0.493																																																	0													160.0	144.0	149.0					1																	248512656		2203	4300	6503	SO:0001583	missense	127066			BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.580G>C	1.37:g.248512656G>C	ENSP00000324534:p.Glu194Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IEZ6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E194Q	ENST00000317861.1	37	c.580	CCDS31112.1	1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915676	0.33815	.	.	ENSG00000177174	ENST00000317861	T	0.00237	8.47	4.05	0.988	0.19796	GPCR, rhodopsin-like superfamily (1);	0.558525	0.15228	N	0.273584	T	0.00178	0.0005	L	0.49256	1.55	0.09310	N	1	B	0.19583	0.037	B	0.29077	0.098	T	0.36089	-0.9762	10	0.66056	D	0.02	.	4.6845	0.12752	0.2605:0.0:0.5743:0.1653	.	194	Q8NHC7	O14CZ_HUMAN	Q	194	ENSP00000324534:E194Q	ENSP00000324534:E194Q	E	+	1	0	OR14C36	246579279	0.000000	0.05858	0.000000	0.03702	0.724000	0.41520	-0.246000	0.08878	0.034000	0.15491	0.395000	0.25975	GAG	OR14C36	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.493	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14C36	HGNC	protein_coding	OTTHUMT00000097359.1	G	NM_001001918		248512656	+1	no_errors	ENST00000317861	ensembl	human	known	70_37	missense	SNP	0.001	C
OR1Q1	158131	genome.wustl.edu	37	9	125377527	125377527	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:125377527G>C	ENST00000297913.2	+	1	580	c.511G>C	c.(511-513)Gat>Cat	p.D171H	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	171					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTTCTGTGCAGATAACAGAAT	0.488																																																	0													180.0	162.0	168.0					9																	125377527		2203	4300	6503	SO:0001583	missense	158131				CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"""GPCR / Class A : Olfactory receptors"""	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.511G>C	9.37:g.125377527G>C	ENSP00000297913:p.Asp171His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D171H	ENST00000297913.2	37	c.511	CCDS35125.1	9	.	.	.	.	.	.	.	.	.	.	G	5.467	0.271312	0.10349	.	.	ENSG00000165202	ENST00000297913	T	0.37235	1.21	5.57	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.404229	0.20927	N	0.083171	T	0.23688	0.0573	N	0.13140	0.3	0.09310	N	1	P	0.50819	0.939	P	0.52066	0.689	T	0.05599	-1.0875	10	0.27785	T	0.31	-1.6638	2.0796	0.03631	0.1464:0.1987:0.4233:0.2315	.	171	Q15612	OR1Q1_HUMAN	H	171	ENSP00000297913:D171H	ENSP00000297913:D171H	D	+	1	0	OR1Q1	124417348	0.000000	0.05858	0.063000	0.19743	0.100000	0.18952	-0.504000	0.06375	0.444000	0.26612	0.650000	0.86243	GAT	OR1Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1Q1	HGNC	protein_coding	OTTHUMT00000053946.1	G			125377527	+1	no_errors	ENST00000297913	ensembl	human	known	70_37	missense	SNP	0.000	C
OR1L1	26737	genome.wustl.edu	37	9	125424911	125424911	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:125424911G>C	ENST00000373686.1	+	1	1067	c.1067G>C	c.(1066-1068)aGg>aCg	p.R356T	OR1L1_ENST00000309623.1_Missense_Mutation_p.R306T			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	356						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TTGATGCACAGGATGAAATGT	0.383																																																	0													79.0	73.0	75.0					9																	125424911		2203	4299	6502	SO:0001583	missense	26737				CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.1067G>C	9.37:g.125424911G>C	ENSP00000362790:p.Arg356Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R356T	ENST00000373686.1	37	c.1067		9	.	.	.	.	.	.	.	.	.	.	G	9.047	0.991078	0.18966	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.39592	1.07;1.07	3.26	-1.0	0.10196	.	.	.	.	.	T	0.31358	0.0794	L	0.41492	1.28	0.09310	N	1	B	0.30146	0.27	B	0.34991	0.193	T	0.38178	-0.9673	9	0.87932	D	0	.	3.6731	0.08281	0.3468:0.0:0.4746:0.1785	.	356	Q8NH94	OR1L1_HUMAN	T	356;306	ENSP00000362790:R356T;ENSP00000310773:R306T	ENSP00000310773:R306T	R	+	2	0	OR1L1	124464732	.	.	0.000000	0.03702	0.036000	0.12997	.	.	-0.097000	0.12307	0.313000	0.20887	AGG	OR1L1	-	NULL		0.383	OR1L1-201	KNOWN	basic	protein_coding	OR1L1	HGNC	protein_coding		G			125424911	+1	no_errors	ENST00000373686	ensembl	human	known	70_37	missense	SNP	0.000	C
OR2A2	442361	genome.wustl.edu	37	7	143807474	143807474	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:143807474G>C	ENST00000408979.2	+	1	868	c.799G>C	c.(799-801)Gag>Cag	p.E267Q		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TAATCAACGAGAGGAGCAGGA	0.507																																																	0													175.0	169.0	171.0					7																	143807474		2008	4197	6205	SO:0001583	missense	442361				CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.799G>C	7.37:g.143807474G>C	ENSP00000386209:p.Glu267Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN85|Q8NGT6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E267Q	ENST00000408979.2	37	c.799	CCDS43671.1	7	.	.	.	.	.	.	.	.	.	.	G	1.891	-0.455352	0.04540	.	.	ENSG00000221989	ENST00000408979	T	0.00099	8.73	3.47	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34046	U	0.004312	T	0.00073	0.0002	N	0.05534	-0.03	0.09310	N	1	B	0.27166	0.17	B	0.36186	0.219	T	0.15263	-1.0443	10	0.06494	T	0.89	-14.5634	11.1326	0.48356	0.0:0.5698:0.4302:0.0	.	267	Q6IF42	OR2A2_HUMAN	Q	267	ENSP00000386209:E267Q	ENSP00000386209:E267Q	E	+	1	0	OR2A2	143438407	0.000000	0.05858	0.008000	0.14137	0.074000	0.17049	-0.048000	0.11944	0.231000	0.21079	0.511000	0.50034	GAG	OR2A2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.507	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A2	HGNC	protein_coding	OTTHUMT00000349978.1	G			143807474	+1	no_errors	ENST00000408979	ensembl	human	known	70_37	missense	SNP	0.000	C
OR2B3	442184	genome.wustl.edu	37	6	29054661	29054661	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:29054661C>G	ENST00000377173.2	-	1	429	c.365G>C	c.(364-366)aGa>aCa	p.R122T		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AGCCACATATCTGTCAAAGGA	0.493																																																	0													93.0	89.0	90.0					6																	29054661		2203	4300	6503	SO:0001583	missense	442184				CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.365G>C	6.37:g.29054661C>G	ENSP00000366378:p.Arg122Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R122T	ENST00000377173.2	37	c.365	CCDS34358.1	6	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924866	0.73213	.	.	ENSG00000204703	ENST00000377173	T	0.77489	-1.1	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39909	U	0.001237	D	0.92420	0.7594	H	0.99842	4.835	0.32141	N	0.585442	D	0.89917	1.0	D	0.83275	0.996	D	0.92552	0.6051	10	0.87932	D	0	.	14.4933	0.67667	0.0:1.0:0.0:0.0	.	122	O76000	OR2B3_HUMAN	T	122	ENSP00000366378:R122T	ENSP00000366378:R122T	R	-	2	0	OR2B3	29162640	0.171000	0.23029	0.932000	0.37286	0.985000	0.73830	4.272000	0.58908	1.696000	0.51158	0.579000	0.79373	AGA	OR2B3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.493	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B3	HGNC	protein_coding	OTTHUMT00000076469.2	C			29054661	-1	no_errors	ENST00000377173	ensembl	human	known	70_37	missense	SNP	1.000	G
OR2T27	403239	genome.wustl.edu	37	1	248813928	248813928	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:248813928C>T	ENST00000344889.3	-	1	257	c.258G>A	c.(256-258)gtG>gtA	p.V86V		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTGGCTCATCACCTGGTCGA	0.547																																																	0													35.0	23.0	27.0					1																	248813928		2197	4256	6453	SO:0001819	synonymous_variant	403239				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.258G>A	1.37:g.248813928C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V86	ENST00000344889.3	37	c.258	CCDS31124.1	1																																																																																			OR2T27	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.547	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T27	HGNC	protein_coding	OTTHUMT00000097124.1	C	NM_001001824		248813928	-1	no_errors	ENST00000344889	ensembl	human	known	70_37	silent	SNP	0.000	T
OR3A3	8392	genome.wustl.edu	37	17	3324457	3324457	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:3324457C>G	ENST00000291231.1	+	1	596	c.596C>G	c.(595-597)tCc>tGc	p.S199C		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	199					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CTCTCCTGCTCCAGCACCCAA	0.552																																																	0													73.0	70.0	71.0					17																	3324457		2203	4300	6503	SO:0001583	missense	8392			U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"""GPCR / Class A : Olfactory receptors"""	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.596C>G	17.37:g.3324457C>G	ENSP00000291231:p.Ser199Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S199C	ENST00000291231.1	37	c.596	CCDS11025.1	17	.	.	.	.	.	.	.	.	.	.	.	14.02	2.409739	0.42715	.	.	ENSG00000159961	ENST00000291231	T	0.00262	8.4	2.52	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00724	0.0024	M	0.91872	3.25	0.24066	N	0.99599	D	0.89917	1.0	D	0.97110	1.0	T	0.32481	-0.9905	9	0.87932	D	0	.	12.7232	0.57154	0.0:1.0:0.0:0.0	.	199	P47888	OR3A3_HUMAN	C	199	ENSP00000291231:S199C	ENSP00000291231:S199C	S	+	2	0	OR3A3	3271207	0.000000	0.05858	0.914000	0.36105	0.991000	0.79684	-0.150000	0.10189	1.692000	0.51112	0.650000	0.86243	TCC	OR3A3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.552	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A3	HGNC	protein_coding	OTTHUMT00000207309.1	C			3324457	+1	no_errors	ENST00000291231	ensembl	human	known	70_37	missense	SNP	0.877	G
OR4C3	256144	genome.wustl.edu	37	11	48347189	48347189	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:48347189C>G	ENST00000319856.4	+	1	718	c.697C>G	c.(697-699)Ctg>Gtg	p.L233V		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTTAATCTGCCTGTTGAACTT	0.512																																																	0													280.0	186.0	218.0					11																	48347189		2201	4298	6499	SO:0001583	missense	256144			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.697C>G	11.37:g.48347189C>G	ENSP00000321419:p.Leu233Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNF2|Q6IFB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L233V	ENST00000319856.4	37	c.697	CCDS31489.1	11	.	.	.	.	.	.	.	.	.	.	C	8.722	0.914566	0.17907	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.39056	1.1	5.88	2.89	0.33648	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001048	T	0.26122	0.0637	N	0.13299	0.325	0.26831	N	0.968577	B	0.31153	0.31	B	0.42245	0.381	T	0.19516	-1.0303	10	0.16420	T	0.52	.	4.1357	0.10169	0.167:0.5945:0.0:0.2386	.	206	Q8NH37	OR4C3_HUMAN	V	233;96	ENSP00000321419:L233V	ENSP00000321419:L233V	L	+	1	2	OR4C3	48303765	0.000000	0.05858	0.998000	0.56505	0.653000	0.38743	-3.286000	0.00526	1.541000	0.49316	0.549000	0.68633	CTG	OR4C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	HGNC	protein_coding	OTTHUMT00000390557.1	C	NM_001004702		48347189	+1	no_errors	ENST00000319856	ensembl	human	known	70_37	missense	SNP	0.960	G
OR4C3	256144	genome.wustl.edu	37	11	48347369	48347369	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:48347369G>C	ENST00000319856.4	+	1	898	c.877G>C	c.(877-879)Gac>Cac	p.D293H		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTTACCTATAGACAAAAATAT	0.378																																																	0													180.0	178.0	179.0					11																	48347369		2201	4298	6499	SO:0001583	missense	256144			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.877G>C	11.37:g.48347369G>C	ENSP00000321419:p.Asp293His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNF2|Q6IFB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D293H	ENST00000319856.4	37	c.877	CCDS31489.1	11	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572413	0.28092	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.00253	8.43	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.230997	0.30311	N	0.009919	T	0.00936	0.0031	M	0.93283	3.4	0.24979	N	0.991614	D	0.89917	1.0	D	0.91635	0.999	T	0.34354	-0.9832	10	0.87932	D	0	.	17.9278	0.88989	0.0:0.0:1.0:0.0	.	266	Q8NH37	OR4C3_HUMAN	H	293;156	ENSP00000321419:D293H	ENSP00000321419:D293H	D	+	1	0	OR4C3	48303945	0.938000	0.31826	0.171000	0.22900	0.011000	0.07611	2.380000	0.44327	2.838000	0.97847	0.561000	0.74099	GAC	OR4C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.378	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	HGNC	protein_coding	OTTHUMT00000390557.1	G	NM_001004702		48347369	+1	no_errors	ENST00000319856	ensembl	human	known	70_37	missense	SNP	0.514	C
OR4D11	219986	genome.wustl.edu	37	11	59271208	59271208	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:59271208C>T	ENST00000313253.1	+	1	160	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R54C(2)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTGTGAGTCTCGCCTTCACAC	0.498																																																	2	Substitution - Missense(2)	large_intestine(1)|lung(1)											205.0	199.0	201.0					11																	59271208		2201	4295	6496	SO:0001583	missense	219986			AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.160C>T	11.37:g.59271208C>T	ENSP00000320077:p.Arg54Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R54C	ENST00000313253.1	37	c.160	CCDS31563.1	11	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515226	0.27123	.	.	ENSG00000176200	ENST00000313253	T	0.01152	5.26	5.45	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.125586	0.36482	N	0.002574	T	0.02304	0.0071	M	0.70108	2.13	0.18873	N	0.999987	B	0.11235	0.004	B	0.14023	0.01	T	0.26883	-1.0090	10	0.48119	T	0.1	-10.5892	13.1502	0.59484	0.0:0.9217:0.0:0.0783	.	54	Q8NGI4	OR4DB_HUMAN	C	54	ENSP00000320077:R54C	ENSP00000320077:R54C	R	+	1	0	OR4D11	59027784	0.000000	0.05858	0.626000	0.29213	0.852000	0.48524	0.379000	0.20585	1.300000	0.44818	0.563000	0.77884	CGC	OR4D11	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D11	HGNC	protein_coding	OTTHUMT00000394236.1	C	NM_001004706		59271208	+1	no_errors	ENST00000313253	ensembl	human	known	70_37	missense	SNP	0.060	T
OR4D5	219875	genome.wustl.edu	37	11	123810603	123810603	+	Missense_Mutation	SNP	T	T	C	rs146925616	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:123810603T>C	ENST00000307033.2	+	1	354	c.280T>C	c.(280-282)Ttt>Ctt	p.F94L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TACCATTTCCTTTGGTGGATG	0.473																																																	0													142.0	119.0	127.0					11																	123810603		2202	4299	6501	SO:0001583	missense	219875			BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.280T>C	11.37:g.123810603T>C	ENSP00000305970:p.Phe94Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGZ4|Q6IFE6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F94L	ENST00000307033.2	37	c.280	CCDS31699.1	11	.	.	.	.	.	.	.	.	.	.	T	18.36	3.607311	0.66558	.	.	ENSG00000171014	ENST00000307033	T	0.00327	8.09	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.138664	0.33127	N	0.005244	T	0.00412	0.0013	L	0.53249	1.67	0.28021	N	0.934511	D	0.56746	0.977	P	0.50537	0.643	T	0.64019	-0.6505	10	0.37606	T	0.19	-16.6804	15.2581	0.73601	0.0:0.0:0.0:1.0	.	94	Q8NGN0	OR4D5_HUMAN	L	94	ENSP00000305970:F94L	ENSP00000305970:F94L	F	+	1	0	OR4D5	123315813	0.000000	0.05858	0.999000	0.59377	0.856000	0.48823	0.309000	0.19332	2.082000	0.62665	0.533000	0.62120	TTT	OR4D5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.473	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D5	HGNC	protein_coding	OTTHUMT00000387263.1	T	NM_001001965		123810603	+1	no_errors	ENST00000307033	ensembl	human	known	70_37	missense	SNP	0.977	C
OR4F15	390649	genome.wustl.edu	37	15	102359288	102359288	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:102359288G>A	ENST00000332238.4	+	1	923	c.899G>A	c.(898-900)aGa>aAa	p.R300K		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GCAATGAGGAGACTGTGCAGT	0.368																																																	0													55.0	48.0	50.0					15																	102359288		2203	4300	6503	SO:0001583	missense	390649			BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.899G>A	15.37:g.102359288G>A	ENSP00000333184:p.Arg300Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R300K	ENST00000332238.4	37	c.899	CCDS32342.1	15	.	.	.	.	.	.	.	.	.	.	.	2.079	-0.411294	0.04799	.	.	ENSG00000182854	ENST00000332238	T	0.35973	1.28	5.46	1.51	0.23008	.	.	.	.	.	T	0.18676	0.0448	N	0.12831	0.26	0.09310	N	1	B	0.13594	0.008	B	0.16722	0.016	T	0.28427	-1.0044	8	.	.	.	.	7.7706	0.29006	0.4128:0.0:0.5872:0.0	.	300	Q8NGB8	O4F15_HUMAN	K	300	ENSP00000333184:R300K	.	R	+	2	0	OR4F15	100176811	0.000000	0.05858	0.550000	0.28217	0.039000	0.13416	0.037000	0.13840	0.449000	0.26747	-0.142000	0.14014	AGA	OR4F15	-	NULL		0.368	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F15	HGNC	protein_coding	OTTHUMT00000417594.1	G	NM_001001674		102359288	+1	no_errors	ENST00000332238	ensembl	human	known	70_37	missense	SNP	0.157	A
OR4K1	79544	genome.wustl.edu	37	14	20404690	20404690	+	Silent	SNP	C	C	T	rs2792147		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:20404690C>T	ENST00000285600.4	+	1	924	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CATCTACTCTCTGAGGAATGA	0.408																																																	0													90.0	100.0	96.0					14																	20404690		2203	4300	6503	SO:0001819	synonymous_variant	79544				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.865C>T	14.37:g.20404690C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EKV9|Q8NGD6|Q96R73	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L289	ENST00000285600.4	37	c.865	CCDS32025.1	14																																																																																			OR4K1	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.408	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	C			20404690	+1	no_errors	ENST00000285600	ensembl	human	known	70_37	silent	SNP	0.944	T
OR51S1	119692	genome.wustl.edu	37	11	4870037	4870037	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:4870037G>C	ENST00000322101.2	-	1	477	c.402C>G	c.(400-402)atC>atG	p.I134M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGGTCGGCAGATGGCCAGTG	0.532																																																	0													104.0	101.0	102.0					11																	4870037		2201	4298	6499	SO:0001583	missense	119692			AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.402C>G	11.37:g.4870037G>C	ENSP00000322754:p.Ile134Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGZ1|Q6IFI2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I134M	ENST00000322101.2	37	c.402	CCDS31362.1	11	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966696	0.53507	.	.	ENSG00000176922	ENST00000322101	D	0.81908	-1.55	4.98	0.831	0.18860	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000573	D	0.92034	0.7476	H	0.96662	3.86	0.33381	D	0.574826	D	0.89917	1.0	D	0.97110	1.0	D	0.90230	0.4278	10	0.87932	D	0	-20.4697	5.6509	0.17616	0.2311:0.0:0.6321:0.1369	.	134	Q8NGJ8	O51S1_HUMAN	M	134	ENSP00000322754:I134M	ENSP00000322754:I134M	I	-	3	3	OR51S1	4826613	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.569000	0.36428	0.297000	0.22615	-0.150000	0.13652	ATC	OR51S1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.532	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51S1	HGNC	protein_coding	OTTHUMT00000142179.1	G	NM_001004758		4870037	-1	no_errors	ENST00000322101	ensembl	human	known	70_37	missense	SNP	1.000	C
OR52N5	390075	genome.wustl.edu	37	11	5799825	5799825	+	Missense_Mutation	SNP	G	G	A	rs539484040		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:5799825G>A	ENST00000317093.2	-	1	72	c.40C>T	c.(40-42)Cat>Tat	p.H14Y	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGAGTCACATGAATTGTTGGA	0.358																																																	0													72.0	69.0	70.0					11																	5799825		2121	4075	6196	SO:0001583	missense	390075			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.40C>T	11.37:g.5799825G>A	ENSP00000322866:p.His14Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EH12|Q6IFG2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.H14Y	ENST00000317093.2	37	c.40	CCDS31397.1	11	.	.	.	.	.	.	.	.	.	.	G	3.894	-0.023477	0.07634	.	.	ENSG00000181009	ENST00000317093	T	0.36340	1.26	3.59	3.59	0.41128	.	0.737275	0.10435	N	0.674988	T	0.31071	0.0785	L	0.35341	1.055	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16928	-1.0386	10	0.45353	T	0.12	.	14.3236	0.66505	0.0:0.0:1.0:0.0	.	14	Q8NH56	O52N5_HUMAN	Y	14	ENSP00000322866:H14Y	ENSP00000322866:H14Y	H	-	1	0	OR52N5	5756401	0.278000	0.24230	0.076000	0.20297	0.232000	0.25224	4.027000	0.57239	2.010000	0.58986	0.404000	0.27445	CAT	OR52N5	-	NULL		0.358	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N5	HGNC	protein_coding	OTTHUMT00000401141.1	G	NM_001001922		5799825	-1	no_errors	ENST00000317093	ensembl	human	known	70_37	missense	SNP	0.215	A
OR56A1	120796	genome.wustl.edu	37	11	6048725	6048725	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:6048725G>C	ENST00000316650.5	-	1	246	c.210C>G	c.(208-210)ctC>ctG	p.L70L		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGGAGGCTGAGCAGGTAGT	0.597																																																	0													76.0	73.0	74.0					11																	6048725		2201	4293	6494	SO:0001819	synonymous_variant	120796			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.210C>G	11.37:g.6048725G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNI2|Q6IFL0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L70	ENST00000316650.5	37	c.210	CCDS31405.1	11																																																																																			OR56A1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.597	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56A1	HGNC	protein_coding	OTTHUMT00000383757.1	G	NM_001001917		6048725	-1	no_errors	ENST00000316650	ensembl	human	known	70_37	silent	SNP	0.994	C
OR5L1	219437	genome.wustl.edu	37	11	55579658	55579658	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:55579658C>G	ENST00000333973.2	+	1	805	c.716C>G	c.(715-717)tCc>tGc	p.S239C		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AAAGCCTTCTCCACCTGTGCT	0.498																																																	0													186.0	152.0	163.0					11																	55579658		2200	4296	6496	SO:0001583	missense	219437			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.716C>G	11.37:g.55579658C>G	ENSP00000335529:p.Ser239Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNK6|Q6IFD0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S239C	ENST00000333973.2	37	c.716	CCDS31509.1	11	.	.	.	.	.	.	.	.	.	.	c	15.21	2.766468	0.49574	.	.	ENSG00000186117	ENST00000333973	T	0.00314	8.14	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	T	0.01156	0.0038	H	0.97131	3.945	0.28035	N	0.933986	D	0.89917	1.0	D	0.79108	0.992	T	0.05209	-1.0899	10	0.87932	D	0	-51.0635	15.121	0.72443	0.0:1.0:0.0:0.0	.	239	Q8NGL2	OR5L1_HUMAN	C	239	ENSP00000335529:S239C	ENSP00000335529:S239C	S	+	2	0	OR5L1	55336234	0.000000	0.05858	0.963000	0.40424	0.818000	0.46254	0.466000	0.22019	1.875000	0.54330	0.428000	0.28381	TCC	OR5L1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.498	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	HGNC	protein_coding	OTTHUMT00000391514.1	C	NM_001004738		55579658	+1	no_errors	ENST00000333973	ensembl	human	known	70_37	missense	SNP	0.859	G
OR5T3	390154	genome.wustl.edu	37	11	56020110	56020110	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:56020110G>C	ENST00000303059.3	+	1	435	c.435G>C	c.(433-435)ttG>ttC	p.L145F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GTTTTCTCTTGGCTGCAATGG	0.408																																																	0													199.0	189.0	193.0					11																	56020110		2201	4295	6496	SO:0001583	missense	390154			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.435G>C	11.37:g.56020110G>C	ENSP00000305403:p.Leu145Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L145F	ENST00000303059.3	37	c.435	CCDS31524.1	11	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064517	0.36470	.	.	ENSG00000172489	ENST00000303059	T	0.02103	4.45	4.65	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37483	N	0.002068	T	0.12305	0.0299	M	0.87758	2.905	0.24615	N	0.993702	D	0.89917	1.0	D	0.97110	1.0	T	0.01118	-1.1446	10	0.66056	D	0.02	.	9.3185	0.37948	0.0863:0.2817:0.632:0.0	.	145	Q8NGG3	OR5T3_HUMAN	F	145	ENSP00000305403:L145F	ENSP00000305403:L145F	L	+	3	2	OR5T3	55776686	0.047000	0.20315	0.964000	0.40570	0.383000	0.30230	-0.010000	0.12743	2.569000	0.86673	0.643000	0.83706	TTG	OR5T3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.408	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T3	HGNC	protein_coding	OTTHUMT00000391599.1	G	NM_001004747		56020110	+1	no_errors	ENST00000303059	ensembl	human	known	70_37	missense	SNP	0.697	C
OR5B21	219968	genome.wustl.edu	37	11	58275441	58275441	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:58275441G>A	ENST00000360374.2	-	1	137	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGAGTGGATGATCACCATCA	0.483																																																	0													115.0	102.0	107.0					11																	58275441		2201	4295	6496	SO:0001819	synonymous_variant	219968				CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.138C>T	11.37:g.58275441G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I46	ENST00000360374.2	37	c.138	CCDS31552.1	11																																																																																			OR5B21	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.483	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B21	HGNC	protein_coding	OTTHUMT00000394891.1	G	NM_001005218		58275441	-1	no_errors	ENST00000360374	ensembl	human	known	70_37	silent	SNP	0.002	A
OR6B1	135946	genome.wustl.edu	37	7	143701854	143701854	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:143701854C>T	ENST00000408922.2	+	1	833	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CCATTATTTTCATGTATGCTC	0.423																																																	0													161.0	151.0	154.0					7																	143701854		1984	4177	6161	SO:0001819	synonymous_variant	135946				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.765C>T	7.37:g.143701854C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F255	ENST00000408922.2	37	c.765	CCDS43667.1	7																																																																																			OR6B1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.423	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B1	HGNC	protein_coding	OTTHUMT00000349566.1	C			143701854	+1	no_errors	ENST00000408922	ensembl	human	known	70_37	silent	SNP	0.999	T
OR6K6	128371	genome.wustl.edu	37	1	158724728	158724728	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:158724728C>G	ENST00000368144.2	+	1	219	c.123C>G	c.(121-123)ctC>ctG	p.L41L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CTGAGTTCCTCTTCTCTATGT	0.428																																																	0													203.0	188.0	193.0					1																	158724728		2203	4300	6503	SO:0001819	synonymous_variant	128371			BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.123C>G	1.37:g.158724728C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIM8|Q5VUU9|Q6IFR4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L41	ENST00000368144.2	37	c.123	CCDS30904.1	1																																																																																			OR6K6	-	NULL		0.428	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K6	HGNC	protein_coding	OTTHUMT00000059065.2	C	NM_001005184		158724728	+1	no_errors	ENST00000368144	ensembl	human	known	70_37	silent	SNP	0.959	G
OR8I2	120586	genome.wustl.edu	37	11	55861422	55861422	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:55861422C>T	ENST00000302124.2	+	1	670	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TCCTTATCATCACAGTCACTT	0.498																																																	0													145.0	123.0	130.0					11																	55861422		2201	4296	6497	SO:0001819	synonymous_variant	120586			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.639C>T	11.37:g.55861422C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I213	ENST00000302124.2	37	c.639	CCDS31517.1	11																																																																																			OR8I2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.498	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding		C	NM_001003750		55861422	+1	no_errors	ENST00000302124	ensembl	human	known	70_37	silent	SNP	0.006	T
OR9G1	390174	genome.wustl.edu	37	11	56468523	56468523	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:56468523C>T	ENST00000312153.1	+	1	660	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ACCTCTTTATCATCACCAGTG	0.527																																																	0													178.0	178.0	178.0					11																	56468523		2201	4296	6497	SO:0001819	synonymous_variant	390174			AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.660C>T	11.37:g.56468523C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IEU9|Q8NGQ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I220	ENST00000312153.1	37	c.660	CCDS31536.1	11																																																																																			OR9G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9G1	HGNC	protein_coding	OTTHUMT00000393253.1	C	NM_001005213		56468523	+1	no_errors	ENST00000312153	ensembl	human	known	70_37	silent	SNP	0.954	T
OR8D4	338662	genome.wustl.edu	37	11	123777647	123777647	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:123777647G>A	ENST00000321355.2	+	1	539	c.509G>A	c.(508-510)gGa>gAa	p.G170E		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TCTTTCTGTGGATCAAACATC	0.418																																																	0													218.0	214.0	216.0					11																	123777647		2202	4299	6501	SO:0001583	missense	338662			AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.509G>A	11.37:g.123777647G>A	ENSP00000325381:p.Gly170Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFE9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G170E	ENST00000321355.2	37	c.509	CCDS31698.1	11	.	.	.	.	.	.	.	.	.	.	G	2.507	-0.313868	0.05422	.	.	ENSG00000181518	ENST00000321355	T	0.38887	1.11	5.81	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.498728	0.16960	N	0.192540	T	0.39226	0.1070	M	0.69463	2.115	0.09310	N	1	B	0.21225	0.053	B	0.30251	0.113	T	0.36212	-0.9757	10	0.20046	T	0.44	.	8.8791	0.35363	0.4661:0.0:0.5339:0.0	.	170	Q8NGM9	OR8D4_HUMAN	E	170	ENSP00000325381:G170E	ENSP00000325381:G170E	G	+	2	0	OR8D4	123282857	0.066000	0.20996	0.000000	0.03702	0.674000	0.39518	0.909000	0.28558	-0.023000	0.13963	0.655000	0.94253	GGA	OR8D4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.418	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D4	HGNC	protein_coding	OTTHUMT00000387262.1	G	NM_001005197		123777647	+1	no_errors	ENST00000321355	ensembl	human	known	70_37	missense	SNP	0.000	A
OR8B8	26493	genome.wustl.edu	37	11	124310211	124310211	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:124310211G>C	ENST00000328064.2	-	1	843	c.771C>G	c.(769-771)ttC>ttG	p.F257L		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	257					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGAGGTACATGAATGCTCCTG	0.468																																																	0													86.0	77.0	80.0					11																	124310211		2201	4299	6500	SO:0001583	missense	26493			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.771C>G	11.37:g.124310211G>C	ENSP00000330280:p.Phe257Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L446|Q96RC8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F257L	ENST00000328064.2	37	c.771	CCDS8446.1	11	.	.	.	.	.	.	.	.	.	.	G	9.641	1.138887	0.21123	.	.	ENSG00000197125	ENST00000328064	T	0.00241	8.46	3.81	-2.78	0.05859	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000209	T	0.00300	0.0009	L	0.45698	1.435	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.47548	-0.9109	10	0.87932	D	0	.	8.2106	0.31481	0.6734:0.0:0.1985:0.1281	.	257	Q15620	OR8B8_HUMAN	L	257	ENSP00000330280:F257L	ENSP00000330280:F257L	F	-	3	2	OR8B8	123815421	0.123000	0.22298	0.104000	0.21259	0.216000	0.24613	0.140000	0.16056	-0.609000	0.05724	-0.793000	0.03317	TTC	OR8B8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.468	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B8	HGNC	protein_coding	OTTHUMT00000387056.1	G	NM_012378		124310211	-1	no_errors	ENST00000328064	ensembl	human	putative	70_37	missense	SNP	0.000	C
ORC2	4999	genome.wustl.edu	37	2	201800483	201800483	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:201800483C>G	ENST00000234296.2	-	9	896	c.647G>C	c.(646-648)aGa>aCa	p.R216T		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	216					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						TGAAACTACTCTATTCTGAGC	0.383																																																	0													162.0	156.0	158.0					2																	201800483		2203	4300	6503	SO:0001583	missense	4999				CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.647G>C	2.37:g.201800483C>G	ENSP00000234296:p.Arg216Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13204|Q53TX5	Missense_Mutation	SNP	pfam_ORC2	p.R216T	ENST00000234296.2	37	c.647	CCDS2334.1	2	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497577	0.26861	.	.	ENSG00000115942	ENST00000234296	T	0.30981	1.51	5.24	3.42	0.39159	.	0.269238	0.40554	N	0.001067	T	0.19525	0.0469	L	0.40543	1.245	0.09310	N	1	B;B	0.19935	0.036;0.04	B;B	0.15052	0.012;0.012	T	0.21827	-1.0234	10	0.16420	T	0.52	-9.3902	5.1597	0.15054	0.0:0.6207:0.1645:0.2148	.	216;216	B4DYU9;Q13416	.;ORC2_HUMAN	T	216	ENSP00000234296:R216T	ENSP00000234296:R216T	R	-	2	0	ORC2	201508728	0.000000	0.05858	0.989000	0.46669	0.943000	0.58893	-0.090000	0.11163	0.697000	0.31718	0.555000	0.69702	AGA	ORC2	-	NULL		0.383	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC2	HGNC	protein_coding	OTTHUMT00000256191.2	C	NM_006190		201800483	-1	no_errors	ENST00000234296	ensembl	human	known	70_37	missense	SNP	0.049	G
ORC2	4999	genome.wustl.edu	37	2	201800579	201800579	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:201800579G>C	ENST00000234296.2	-	9	800	c.551C>G	c.(550-552)tCt>tGt	p.S184C		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	184					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GTTGGAAGCAGAATATTCGCT	0.428																																																	0													112.0	105.0	107.0					2																	201800579		2203	4300	6503	SO:0001583	missense	4999				CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.551C>G	2.37:g.201800579G>C	ENSP00000234296:p.Ser184Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13204|Q53TX5	Missense_Mutation	SNP	pfam_ORC2	p.S184C	ENST00000234296.2	37	c.551	CCDS2334.1	2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410874	0.83340	.	.	ENSG00000115942	ENST00000234296	T	0.34472	1.36	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.61297	-0.7091	10	0.66056	D	0.02	-12.4966	18.7708	0.91892	0.0:0.0:1.0:0.0	.	184;184	B4DYU9;Q13416	.;ORC2_HUMAN	C	184	ENSP00000234296:S184C	ENSP00000234296:S184C	S	-	2	0	ORC2	201508824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.526000	0.73799	2.620000	0.88729	0.555000	0.69702	TCT	ORC2	-	NULL		0.428	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC2	HGNC	protein_coding	OTTHUMT00000256191.2	G	NM_006190		201800579	-1	no_errors	ENST00000234296	ensembl	human	known	70_37	missense	SNP	1.000	C
ORC5	5001	genome.wustl.edu	37	7	103767296	103767296	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:103767296C>T	ENST00000297431.4	-	14	1449	c.1307G>A	c.(1306-1308)tGa>tAa	p.*436*	ORC5_ENST00000545943.1_Silent_p.*304*	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	0					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						AGCTTGTTTTCACAAGAAATC	0.393																																																	0													105.0	95.0	98.0					7																	103767296		2203	4299	6502	SO:0001819	synonymous_variant	5001				CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.1307G>A	7.37:g.103767296C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0P8|O60590|O95268	Silent	SNP	NULL	p.*436	ENST00000297431.4	37	c.1307	CCDS5734.1	7																																																																																			ORC5	-	NULL		0.393	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC5	HGNC	protein_coding	OTTHUMT00000348286.1	C	NM_002553		103767296	-1	no_errors	ENST00000297431	ensembl	human	known	70_37	silent	SNP	1.000	T
OTOP1	133060	genome.wustl.edu	37	4	4198908	4198908	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:4198908G>C	ENST00000296358.4	-	5	1677	c.1653C>G	c.(1651-1653)ttC>ttG	p.F551L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	551					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TATTGCAGAGGAACAAGAAGG	0.443																																																	0													57.0	63.0	61.0					4																	4198908		2203	4300	6503	SO:0001583	missense	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1653C>G	4.37:g.4198908G>C	ENSP00000296358:p.Phe551Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L476	Missense_Mutation	SNP	pfam_Otopetrin	p.F551L	ENST00000296358.4	37	c.1653	CCDS3372.1	4	.	.	.	.	.	.	.	.	.	.	G	5.668	0.307842	0.10733	.	.	ENSG00000163982	ENST00000296358	T	0.11277	2.79	4.92	2.2	0.27929	.	0.215304	0.47455	D	0.000221	T	0.03011	0.0089	N	0.02213	-0.635	0.52099	D	0.999948	B	0.23650	0.089	B	0.25884	0.064	T	0.41893	-0.9483	10	0.02654	T	1	-10.4777	5.9141	0.19045	0.2228:0.0:0.6434:0.1338	.	551	Q7RTM1	OTOP1_HUMAN	L	551	ENSP00000296358:F551L	ENSP00000296358:F551L	F	-	3	2	OTOP1	4249809	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	1.598000	0.36740	0.205000	0.20568	0.508000	0.49915	TTC	OTOP1	-	pfam_Otopetrin		0.443	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP1	HGNC	protein_coding	OTTHUMT00000206661.2	G	NM_177998		4198908	-1	no_errors	ENST00000296358	ensembl	human	known	70_37	missense	SNP	0.998	C
OTUD4	54726	genome.wustl.edu	37	4	146065559	146065559	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:146065559G>A	ENST00000447906.2	-	15	1637	c.1450C>T	c.(1450-1452)Cag>Tag	p.Q484*	OTUD4_ENST00000454497.2_Nonsense_Mutation_p.Q419*|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	484					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TTGCTACTCTGAGAAGCTGAC	0.368																																																	0													175.0	172.0	173.0					4																	146065559		2203	4300	6503	SO:0001587	stop_gained	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1450C>T	4.37:g.146065559G>A	ENSP00000395487:p.Gln484*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Nonsense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.Q484*	ENST00000447906.2	37	c.1450		4	.	.	.	.	.	.	.	.	.	.	G	38	7.059250	0.98036	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	.	.	.	5.52	5.52	0.82312	.	0.218300	0.32769	N	0.005664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-2.747	17.2128	0.86935	0.0:0.0:1.0:0.0	.	.	.	.	X	419;484	.	ENSP00000395487:Q484X	Q	-	1	0	OTUD4	146285009	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.257000	0.65473	2.578000	0.87016	0.563000	0.77884	CAG	OTUD4	-	NULL		0.368	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	G	NM_017493		146065559	-1	no_errors	ENST00000447906	ensembl	human	known	70_37	nonsense	SNP	1.000	A
OTUD4	54726	genome.wustl.edu	37	4	146065567	146065567	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:146065567G>A	ENST00000447906.2	-	15	1629	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	OTUD4_ENST00000454497.2_Missense_Mutation_p.S416L|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	481					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTGAGAAGCTGACTGATTGAC	0.373																																																	0													166.0	164.0	165.0					4																	146065567		2203	4300	6503	SO:0001583	missense	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1442C>T	4.37:g.146065567G>A	ENSP00000395487:p.Ser481Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.S481L	ENST00000447906.2	37	c.1442		4	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383718	0.42308	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.32753	1.44;1.44	5.52	5.52	0.82312	.	0.672540	0.13554	N	0.379259	T	0.20455	0.0492	N	0.24115	0.695	0.80722	D	1	B;B	0.23249	0.082;0.049	B;B	0.25140	0.058;0.026	T	0.04229	-1.0967	10	0.08837	T	0.75	-0.8782	11.6627	0.51356	0.0824:0.0:0.9176:0.0	.	481;480	G3V0I6;Q01804	.;OTUD4_HUMAN	L	416;481	ENSP00000409279:S416L;ENSP00000395487:S481L	ENSP00000395487:S481L	S	-	2	0	OTUD4	146285017	0.890000	0.30428	0.970000	0.41538	0.935000	0.57460	3.595000	0.54016	2.578000	0.87016	0.563000	0.77884	TCA	OTUD4	-	NULL		0.373	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	G	NM_017493		146065567	-1	no_errors	ENST00000447906	ensembl	human	known	70_37	missense	SNP	0.911	A
OXSM	54995	genome.wustl.edu	37	3	25833167	25833167	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:25833167C>G	ENST00000280701.3	+	2	755	c.656C>G	c.(655-657)tCa>tGa	p.S219*	OXSM_ENST00000420173.2_Nonsense_Mutation_p.S219*|OXSM_ENST00000449808.1_Intron|NGLY1_ENST00000417874.2_5'Flank	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	219					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTGGGAGACTCATTTAGATTT	0.488																																																	0													116.0	114.0	114.0					3																	25833167		2203	4300	6503	SO:0001587	stop_gained	54995			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.656C>G	3.37:g.25833167C>G	ENSP00000280701:p.Ser219*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Ketoacyl_synth_N,pfam_Ketoacyl_synth_C,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2	p.S219*	ENST00000280701.3	37	c.656	CCDS2643.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.133435	0.94517	.	.	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	6.16	6.16	0.99307	.	0.100444	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.352	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	219	.	ENSP00000280701:S219X	S	+	2	0	OXSM	25808171	1.000000	0.71417	0.968000	0.41197	0.893000	0.52053	7.786000	0.85741	2.937000	0.99478	0.650000	0.86243	TCA	OXSM	-	pfam_Ketoacyl_synth_N,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2		0.488	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXSM	HGNC	protein_coding	OTTHUMT00000252876.2	C	NM_017897		25833167	+1	no_errors	ENST00000280701	ensembl	human	known	70_37	nonsense	SNP	1.000	G
P4HA2	8974	genome.wustl.edu	37	5	131545021	131545021	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:131545021G>C	ENST00000401867.1	-	8	1281	c.713C>G	c.(712-714)cCa>cGa	p.P238R	P4HA2_ENST00000379100.2_Missense_Mutation_p.P238R|P4HA2_ENST00000379086.1_Missense_Mutation_p.P238R|P4HA2_ENST00000166534.4_Missense_Mutation_p.P238R|P4HA2_ENST00000360568.3_Missense_Mutation_p.P238R|P4HA2_ENST00000379104.2_Missense_Mutation_p.P238R			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	238					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TTCGTGGCTTGGGTCTAGAAA	0.433																																					Esophageal Squamous(68;117 1135 17362 19256 34242)												0													135.0	135.0	135.0					5																	131545021		2203	4300	6503	SO:0001583	missense	8974			U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.713C>G	5.37:g.131545021G>C	ENSP00000384999:p.Pro238Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P238R	ENST00000401867.1	37	c.713	CCDS4151.1	5	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285033	0.80803	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.269490	0.41938	D	0.000782	T	0.70771	0.3262	M	0.92833	3.35	0.80722	D	1	P;D	0.54397	0.858;0.966	P;P	0.54856	0.464;0.762	T	0.78718	-0.2095	10	0.87932	D	0	0.848	15.9913	0.80208	0.0:0.1348:0.8652:0.0	.	238;238	O15460;O15460-2	P4HA2_HUMAN;.	R	238	ENSP00000384999:P238R;ENSP00000368379:P238R;ENSP00000166534:P238R;ENSP00000353772:P238R;ENSP00000368398:P238R;ENSP00000368394:P238R	ENSP00000166534:P238R	P	-	2	0	P4HA2	131572920	1.000000	0.71417	0.842000	0.33263	0.852000	0.48524	7.368000	0.79567	2.744000	0.94065	0.655000	0.94253	CCA	P4HA2	-	pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.433	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P4HA2	HGNC	protein_coding	OTTHUMT00000132653.4	G	NM_004199		131545021	-1	no_errors	ENST00000166534	ensembl	human	known	70_37	missense	SNP	0.997	C
PADI2	11240	genome.wustl.edu	37	1	17395384	17395384	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:17395384C>T	ENST00000375486.4	-	0	2216				PADI2_ENST00000444885.2_3'UTR|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II						chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AGGCCCCTCTCAGGGAGGGCA	0.597																																																	0																																										SO:0001624	3_prime_UTR_variant	11240			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.*155G>A	1.37:g.17395384C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96DA7|Q9UPN2	RNA	SNP	-	NULL	ENST00000375486.4	37	NULL	CCDS177.1	1																																																																																			PADI2	-	-		0.597	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	HGNC	protein_coding	OTTHUMT00000006624.1	C			17395384	-1	no_errors	ENST00000466151	ensembl	human	known	70_37	rna	SNP	0.056	T
PADI2	11240	genome.wustl.edu	37	1	17409138	17409138	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:17409138C>T	ENST00000375486.4	-	10	1123	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	PADI2_ENST00000375481.1_Missense_Mutation_p.E354K|PADI2_ENST00000444885.2_Missense_Mutation_p.E238K|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	354					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TAGCCAAACTCAATTTCATCC	0.522																																																	0													57.0	56.0	57.0					1																	17409138		2203	4300	6503	SO:0001583	missense	11240			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1060G>A	1.37:g.17409138C>T	ENSP00000364635:p.Glu354Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96DA7|Q9UPN2	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.E354K	ENST00000375486.4	37	c.1060	CCDS177.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.429537	0.96131	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	T;T;T	0.32515	1.45;1.45;1.45	4.94	4.94	0.65067	Protein-arginine deiminase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.62849	-0.6767	10	0.52906	T	0.07	-44.6003	17.2656	0.87086	0.0:1.0:0.0:0.0	.	238;354	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	K	354;238;354	ENSP00000364635:E354K;ENSP00000405894:E238K;ENSP00000364630:E354K	ENSP00000364630:E354K	E	-	1	0	PADI2	17281725	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	5.681000	0.68175	2.745000	0.94114	0.650000	0.86243	GAG	PADI2	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.522	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	HGNC	protein_coding	OTTHUMT00000006624.1	C			17409138	-1	no_errors	ENST00000375486	ensembl	human	known	70_37	missense	SNP	1.000	T
PADI2	11240	genome.wustl.edu	37	1	17409144	17409144	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:17409144C>A	ENST00000375486.4	-	10	1117	c.1054G>T	c.(1054-1056)Gaa>Taa	p.E352*	PADI2_ENST00000375481.1_Nonsense_Mutation_p.E352*|PADI2_ENST00000444885.2_Nonsense_Mutation_p.E236*|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	352					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AACTCAATTTCATCCTGCAGG	0.512																																																	0													55.0	54.0	54.0					1																	17409144		2203	4300	6503	SO:0001587	stop_gained	11240			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1054G>T	1.37:g.17409144C>A	ENSP00000364635:p.Glu352*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96DA7|Q9UPN2	Nonsense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.E352*	ENST00000375486.4	37	c.1054	CCDS177.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.029610	0.98013	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-20.9255	17.2656	0.87086	0.0:1.0:0.0:0.0	.	.	.	.	X	352;236;352	.	ENSP00000364630:E352X	E	-	1	0	PADI2	17281731	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.583000	0.67484	2.745000	0.94114	0.650000	0.86243	GAA	PADI2	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.512	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	HGNC	protein_coding	OTTHUMT00000006624.1	C			17409144	-1	no_errors	ENST00000375486	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PAK2	5062	genome.wustl.edu	37	3	196528862	196528862	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:196528862C>T	ENST00000327134.3	+	3	574	c.252C>T	c.(250-252)atC>atT	p.I84I		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	84	Autoregulatory region. {ECO:0000250}.|CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.|GTPase-binding. {ECO:0000250}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AGCACACCATCCATGTTGGCT	0.388																																																	0													214.0	208.0	210.0					3																	196528862		2203	4300	6503	SO:0001819	synonymous_variant	5062			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.252C>T	3.37:g.196528862C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13154|Q6ISC3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.I84	ENST00000327134.3	37	c.252	CCDS3321.1	3																																																																																			PAK2	-	pfam_PAK_box_Rho-bd,superfamily_WASP_C,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd		0.388	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK2	HGNC	protein_coding	OTTHUMT00000340548.1	C	NM_002577		196528862	+1	no_errors	ENST00000327134	ensembl	human	known	70_37	silent	SNP	0.996	T
PALD1	27143	genome.wustl.edu	37	10	72293705	72293705	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:72293705G>C	ENST00000263563.6	+	8	1166	c.898G>C	c.(898-900)Gat>Cat	p.D300H		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	300						cytosol (GO:0005829)											GCAGCTCCGTGATGCCCACGG	0.652																																																	0													38.0	35.0	36.0					10																	72293705		2203	4300	6503	SO:0001583	missense	27143			AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.898G>C	10.37:g.72293705G>C	ENSP00000263563:p.Asp300His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	smart_Tyr_Pase_cat	p.D300H	ENST00000263563.6	37	c.898	CCDS31215.1	10	.	.	.	.	.	.	.	.	.	.	G	10.30	1.313140	0.23908	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.24350	1.86	4.64	4.64	0.57946	.	0.688261	0.14772	N	0.299301	T	0.50599	0.1625	M	0.78049	2.395	0.09310	N	0.999997	D	0.63046	0.992	P	0.58970	0.849	T	0.46190	-0.9209	10	0.72032	D	0.01	-2.6131	17.9911	0.89169	0.0:0.0:1.0:0.0	.	300	Q9ULE6	PALD_HUMAN	H	300	ENSP00000263563:D300H	ENSP00000263563:D300H	D	+	1	0	KIAA1274	71963711	0.900000	0.30661	0.006000	0.13384	0.013000	0.08279	3.929000	0.56514	2.507000	0.84556	0.561000	0.74099	GAT	PALD1	-	smart_Tyr_Pase_cat		0.652	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALD1	HGNC	protein_coding	OTTHUMT00000048515.2	G	NM_014431		72293705	+1	no_errors	ENST00000263563	ensembl	human	known	70_37	missense	SNP	0.008	C
PALM	5064	genome.wustl.edu	37	19	736029	736029	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:736029C>G	ENST00000338448.5	+	7	499	c.453C>G	c.(451-453)gtC>gtG	p.V151V	PALM_ENST00000264560.7_Silent_p.V151V|PALM_ENST00000593172.1_3'UTR	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	151					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		ACAAGCGAGTCTCCAACACGC	0.647																																																	0													141.0	134.0	137.0					19																	736029		2203	4300	6503	SO:0001819	synonymous_variant	5064			Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.453C>G	19.37:g.736029C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Silent	SNP	pfam_Paralemmin	p.V151	ENST00000338448.5	37	c.453	CCDS32857.1	19																																																																																			PALM	-	pfam_Paralemmin		0.647	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALM	HGNC	protein_coding	OTTHUMT00000457592.1	C	NM_002579		736029	+1	no_errors	ENST00000338448	ensembl	human	known	70_37	silent	SNP	0.046	G
PALM3	342979	genome.wustl.edu	37	19	14165969	14165969	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:14165969G>C	ENST00000340790.4	-	6	469	c.470C>G	c.(469-471)tCt>tGt	p.S157C		NM_001145028.1	NP_001138500.1	A6NDB9	PALM3_HUMAN	paralemmin 3	157					negative regulation of cytokine-mediated signaling pathway (GO:0001960)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)			endometrium(1)|kidney(2)|pancreas(1)|skin(1)	5						CCTGGGCTCAGAGGGGGACTC	0.667																																																	0													4.0	6.0	5.0					19																	14165969		679	1578	2257	SO:0001583	missense	342979				CCDS46001.1	19p13.12	2010-04-15			ENSG00000187867	ENSG00000187867			33274	protein-coding gene	gene with protein product							Standard	NM_001145028		Approved		uc010xnk.1	A6NDB9		ENST00000340790.4:c.470C>G	19.37:g.14165969G>C	ENSP00000344996:p.Ser157Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S157C	ENST00000340790.4	37	c.470	CCDS46001.1	19	.	.	.	.	.	.	.	.	.	.	g	18.11	3.551026	0.65311	.	.	ENSG00000187867	ENST00000340790	T	0.37752	1.18	4.54	0.92	0.19397	.	1.070360	0.07367	N	0.885006	T	0.47911	0.1471	L	0.52573	1.65	0.09310	N	1	D	0.76494	0.999	D	0.66847	0.947	T	0.30387	-0.9980	10	0.62326	D	0.03	-0.7671	4.1691	0.10320	0.2188:0.1936:0.5876:0.0	.	157	A6NDB9	PALM3_HUMAN	C	157	ENSP00000344996:S157C	ENSP00000344996:S157C	S	-	2	0	PALM3	14026969	0.005000	0.15991	0.005000	0.12908	0.728000	0.41692	0.943000	0.29030	0.472000	0.27344	0.305000	0.20034	TCT	PALM3	-	NULL		0.667	PALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALM3	HGNC	protein_coding	OTTHUMT00000458540.1	G	NM_001145028		14165969	-1	no_errors	ENST00000340790	ensembl	human	known	70_37	missense	SNP	0.001	C
PAMR1	25891	genome.wustl.edu	37	11	35492237	35492237	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:35492237C>G	ENST00000378880.2	-	5	1069	c.624G>C	c.(622-624)caG>caC	p.Q208H	PAMR1_ENST00000378878.3_Intron|PAMR1_ENST00000532848.1_Missense_Mutation_p.Q168H|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Missense_Mutation_p.Q208H	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	208	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ATCCTATGCTCTGGATAGGAG	0.517																																																	0													125.0	107.0	113.0					11																	35492237		2202	4298	6500	SO:0001583	missense	25891				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.624G>C	11.37:g.35492237C>G	ENSP00000368158:p.Gln208His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_EG-like_dom,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Q208H	ENST00000378880.2	37	c.624	CCDS31460.1	11	.	.	.	.	.	.	.	.	.	.	C	9.410	1.080273	0.20309	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000532848;ENST00000527605	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.39	-0.671	0.11381	CUB (5);	0.319618	0.33854	N	0.004487	T	0.31638	0.0803	N	0.12746	0.255	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.03957	-1.0989	10	0.87932	D	0	.	4.7772	0.13185	0.0:0.2208:0.3071:0.4721	.	208;208	Q6UXH9;Q6UXH9-2	PAMR1_HUMAN;.	H	208;208;168;168	ENSP00000278360:Q208H;ENSP00000368158:Q208H;ENSP00000433868:Q168H;ENSP00000432591:Q168H	ENSP00000278360:Q208H	Q	-	3	2	PAMR1	35448813	0.920000	0.31207	0.973000	0.42090	0.117000	0.20001	0.017000	0.13399	-0.011000	0.14247	-0.175000	0.13238	CAG	PAMR1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.517	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAMR1	HGNC	protein_coding	OTTHUMT00000389177.1	C	NM_015430		35492237	-1	no_errors	ENST00000278360	ensembl	human	known	70_37	missense	SNP	0.997	G
PANK2	80025	genome.wustl.edu	37	20	3904080	3904080	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:3904080C>T	ENST00000316562.4	+	0	1858				PANK2_ENST00000610179.1_3'UTR|PANK2_ENST00000497424.1_3'UTR	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2						aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCTAAGTCATCAAGATAAATC	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	80025			AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.*139C>T	20.37:g.3904080C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	RNA	SNP	-	NULL	ENST00000316562.4	37	NULL	CCDS13071.2	20																																																																																			PANK2	-	-		0.343	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PANK2	HGNC	protein_coding	OTTHUMT00000077793.2	C	NM_024960		3904080	+1	no_errors	ENST00000336066	ensembl	human	known	70_37	rna	SNP	0.996	T
PAQR9	344838	genome.wustl.edu	37	3	142681903	142681903	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:142681903G>A	ENST00000340634.3	-	1	275	c.276C>T	c.(274-276)atC>atT	p.I92I	RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	92						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GCAGCAGCGGGATGAAGTGCG	0.637																																																	0													107.0	109.0	108.0					3																	142681903		2203	4300	6503	SO:0001819	synonymous_variant	344838			AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.276C>T	3.37:g.142681903G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q147T6	Silent	SNP	pfam_HlyIII-related	p.I92	ENST00000340634.3	37	c.276	CCDS3128.1	3																																																																																			PAQR9	-	pfam_HlyIII-related		0.637	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR9	HGNC	protein_coding	OTTHUMT00000354538.1	G	NM_198504		142681903	-1	no_errors	ENST00000340634	ensembl	human	known	70_37	silent	SNP	1.000	A
PAQR9	344838	genome.wustl.edu	37	3	142681918	142681918	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:142681918G>A	ENST00000340634.3	-	1	260	c.261C>T	c.(259-261)ttC>ttT	p.F87F	RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	87						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						AGTGCGTCCAGAAGTTGAGCG	0.632																																																	0													99.0	100.0	100.0					3																	142681918		2203	4300	6503	SO:0001819	synonymous_variant	344838			AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.261C>T	3.37:g.142681918G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q147T6	Silent	SNP	pfam_HlyIII-related	p.F87	ENST00000340634.3	37	c.261	CCDS3128.1	3																																																																																			PAQR9	-	pfam_HlyIII-related		0.632	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR9	HGNC	protein_coding	OTTHUMT00000354538.1	G	NM_198504		142681918	-1	no_errors	ENST00000340634	ensembl	human	known	70_37	silent	SNP	1.000	A
PARD3	56288	genome.wustl.edu	37	10	34606252	34606252	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:34606252C>T	ENST00000374789.3	-	20	3182	c.2857G>A	c.(2857-2859)Gaa>Aaa	p.E953K	PARD3_ENST00000374794.3_Missense_Mutation_p.E878K|PARD3_ENST00000374790.3_Missense_Mutation_p.E893K|PARD3_ENST00000374776.1_Missense_Mutation_p.E907K|PARD3_ENST00000374788.3_Missense_Mutation_p.E950K|PARD3_ENST00000374773.1_Missense_Mutation_p.E920K|PARD3_ENST00000545260.1_Missense_Mutation_p.E863K|PARD3_ENST00000545693.1_Missense_Mutation_p.E937K|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000544292.1_Missense_Mutation_p.E666K|PARD3_ENST00000350537.4_Missense_Mutation_p.E907K|PARD3_ENST00000340077.5_Missense_Mutation_p.E950K|PARD3_ENST00000346874.4_Missense_Mutation_p.E953K	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	953					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GAACTTTCTTCTGTGTCTTCT	0.398																																																	0													91.0	89.0	90.0					10																	34606252		2203	4300	6503	SO:0001583	missense	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2857G>A	10.37:g.34606252C>T	ENSP00000363921:p.Glu953Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E953K	ENST00000374789.3	37	c.2857	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.558952	0.96514	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.59595	0.2205	M	0.75264	2.295	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.998;0.992;0.998;0.998;0.998;0.999;0.998;0.998;0.997;0.997;0.997;0.998;0.992;0.998;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85130	0.997;0.984;0.997;0.997;0.997;0.997;0.997;0.993;0.993;0.993;0.993;0.997;0.94;0.997;0.997	T	0.59279	-0.7484	10	0.66056	D	0.02	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	878;863;907;907;937;953;950;953;893;937;920;950;907;919;666	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	K	937;863;953;950;953;878;907;893;907;950;920;666	ENSP00000443147:E937K;ENSP00000440857:E863K;ENSP00000363921:E953K;ENSP00000363920:E950K;ENSP00000340591:E953K;ENSP00000363926:E878K;ENSP00000311986:E907K;ENSP00000363922:E893K;ENSP00000363908:E907K;ENSP00000341844:E950K;ENSP00000363905:E920K;ENSP00000444429:E666K	ENSP00000341844:E950K	E	-	1	0	PARD3	34646258	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.143000	0.77348	2.882000	0.98803	0.655000	0.94253	GAA	PARD3	-	NULL		0.398	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	C	NM_019619		34606252	-1	no_errors	ENST00000374789	ensembl	human	known	70_37	missense	SNP	1.000	T
PARD3B	117583	genome.wustl.edu	37	2	206023452	206023452	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:206023452G>A	ENST00000406610.2	+	11	1648	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	PARD3B_ENST00000351153.1_Missense_Mutation_p.E481K|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Missense_Mutation_p.E481K|PARD3B_ENST00000462231.1_Missense_Mutation_p.E481K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	481					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACAGAAAGGAGAACCTGACTG	0.468																																																	0													124.0	122.0	122.0					2																	206023452		1896	4125	6021	SO:0001583	missense	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1441G>A	2.37:g.206023452G>A	ENSP00000385848:p.Glu481Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E481K	ENST00000406610.2	37	c.1441		2	.	.	.	.	.	.	.	.	.	.	G	33	5.271610	0.95429	.	.	ENSG00000116117	ENST00000406610;ENST00000351153;ENST00000349953	T;T;T	0.11821	2.76;2.76;2.74	5.85	5.85	0.93711	PDZ/DHR/GLGF (2);	.	.	.	.	T	0.39091	0.1065	M	0.68952	2.095	0.58432	D	0.999998	D;D;D;D	0.89917	0.995;0.993;0.975;1.0	D;D;D;D	0.77557	0.973;0.982;0.937;0.99	T	0.01879	-1.1255	9	0.51188	T	0.08	.	20.1606	0.98132	0.0:0.0:1.0:0.0	.	481;481;481;481	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-5	.;PAR3L_HUMAN;.;.	K	481	ENSP00000385848:E481K;ENSP00000317261:E481K;ENSP00000340280:E481K	ENSP00000340280:E481K	E	+	1	0	PARD3B	205731697	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.527000	0.81931	2.772000	0.95346	0.650000	0.86243	GAA	PARD3B	-	superfamily_PDZ		0.468	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	G	NM_057177		206023452	+1	no_errors	ENST00000406610	ensembl	human	known	70_37	missense	SNP	1.000	A
PARP1	142	genome.wustl.edu	37	1	226589952	226589952	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:226589952C>T	ENST00000366794.5	-	2	392	c.249G>A	c.(247-249)caG>caA	p.Q83Q	PARP1_ENST00000366792.1_Silent_p.Q83Q|PARP1_ENST00000366790.3_Silent_p.Q83Q|PARP1_ENST00000366791.5_Silent_p.Q83Q	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	83					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCTTGACTTTCTGCTGGTCAT	0.592								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									0													100.0	85.0	90.0					1																	226589952		2203	4300	6503	SO:0001819	synonymous_variant	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.249G>A	1.37:g.226589952C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ANJ4|Q8IUZ9	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.Q83	ENST00000366794.5	37	c.249	CCDS1554.1	1																																																																																			PARP1	-	pfam_Znf_PARP,pirsf_NAD_ADPRT,pfscan_Znf_PARP		0.592	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP1	HGNC	protein_coding	OTTHUMT00000091519.1	C	NM_001618		226589952	-1	no_errors	ENST00000366794	ensembl	human	known	70_37	silent	SNP	1.000	T
PARP14	54625	genome.wustl.edu	37	3	122447317	122447317	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:122447317C>G	ENST00000474629.2	+	17	5545	c.5279C>G	c.(5278-5280)tCa>tGa	p.S1760*		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1760	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GTGCCTCCTTCAAAGAACCCT	0.398																																																	0													157.0	152.0	154.0					3																	122447317		1932	4152	6084	SO:0001587	stop_gained	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.5279C>G	3.37:g.122447317C>G	ENSP00000418194:p.Ser1760*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Nonsense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S1760*	ENST00000474629.2	37	c.5279	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	C	44	11.159975	0.99524	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	.	.	.	5.71	3.93	0.45458	.	0.612219	0.14588	N	0.310473	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	11.7663	0.51933	0.0:0.8558:0.0:0.1442	.	.	.	.	X	1760;1679;756	.	ENSP00000381224:S756X	S	+	2	0	PARP14	123930007	0.004000	0.15560	0.016000	0.15963	0.672000	0.39443	2.152000	0.42272	0.877000	0.35895	0.655000	0.94253	TCA	PARP14	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom		0.398	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	C	NM_017554		122447317	+1	no_errors	ENST00000474629	ensembl	human	known	70_37	nonsense	SNP	0.014	G
PCDH10	57575	genome.wustl.edu	37	4	134072556	134072556	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:134072556C>T	ENST00000264360.5	+	1	2087	c.1261C>T	c.(1261-1263)Ctg>Ttg	p.L421L	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	421	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGAAGCCCCCCTGGACCGAGA	0.592																																																	0													149.0	164.0	159.0					4																	134072556		2202	4300	6502	SO:0001819	synonymous_variant	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1261C>T	4.37:g.134072556C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5F6|Q96SF0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L421	ENST00000264360.5	37	c.1261	CCDS34063.1	4																																																																																			PCDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.592	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	C	NM_032961		134072556	+1	no_errors	ENST00000264360	ensembl	human	known	70_37	silent	SNP	0.952	T
PCDH17	27253	genome.wustl.edu	37	13	58208549	58208549	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:58208549C>G	ENST00000377918.3	+	1	1895	c.1869C>G	c.(1867-1869)ctC>ctG	p.L623L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCGGGCGTCTCACCTACGAGA	0.662																																					Melanoma(72;952 1291 1619 12849 33676)												0													61.0	59.0	60.0					13																	58208549		2203	4300	6503	SO:0001819	synonymous_variant	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1869C>G	13.37:g.58208549C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L623	ENST00000377918.3	37	c.1869	CCDS31986.1	13																																																																																			PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.662	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	C	NM_001040429		58208549	+1	no_errors	ENST00000377918	ensembl	human	known	70_37	silent	SNP	1.000	G
PCDH18	54510	genome.wustl.edu	37	4	138451743	138451743	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:138451743C>G	ENST00000344876.4	-	1	1886	c.1500G>C	c.(1498-1500)gtG>gtC	p.V500V	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Silent_p.V280V|PCDH18_ENST00000412923.2_Silent_p.V500V|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	500	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGGTGTATGTCACTTGCCCAT	0.403																																																	0													130.0	130.0	130.0					4																	138451743		2203	4300	6503	SO:0001819	synonymous_variant	54510			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1500G>C	4.37:g.138451743C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V500	ENST00000344876.4	37	c.1500	CCDS34064.1	4																																																																																			PCDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.403	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	C	NM_019035		138451743	-1	no_errors	ENST00000344876	ensembl	human	known	70_37	silent	SNP	0.347	G
PCDH19	57526	genome.wustl.edu	37	X	99663151	99663151	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:99663151G>T	ENST00000373034.4	-	1	2120	c.445C>A	c.(445-447)Ccg>Acg	p.P149T	PCDH19_ENST00000255531.7_Missense_Mutation_p.P149T|PCDH19_ENST00000420881.2_Missense_Mutation_p.P149T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	149	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTGTCCAGCGGGATGCGCGTG	0.612																																																	0													83.0	82.0	82.0					X																	99663151		2124	4218	6342	SO:0001583	missense	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.445C>A	X.37:g.99663151G>T	ENSP00000362125:p.Pro149Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P149T	ENST00000373034.4	37	c.445	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907983	0.72868	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.49139	0.79;0.79;0.79	5.7	5.7	0.88788	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.65616	0.2708	L	0.50993	1.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.67597	-0.5630	10	0.87932	D	0	.	18.367	0.90394	0.0:0.0:1.0:0.0	.	149;149;149	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	T	149	ENSP00000400327:P149T;ENSP00000362125:P149T;ENSP00000255531:P149T	ENSP00000255531:P149T	P	-	1	0	PCDH19	99549807	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.807000	0.99171	2.385000	0.81259	0.544000	0.68410	CCG	PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.612	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	G	NM_020766		99663151	-1	no_errors	ENST00000373034	ensembl	human	known	70_37	missense	SNP	1.000	T
PCDH20	64881	genome.wustl.edu	37	13	61986539	61986539	+	Missense_Mutation	SNP	C	C	T	rs559148086		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:61986539C>T	ENST00000409186.1	-	5	3798	c.1693G>A	c.(1693-1695)Gag>Aag	p.E565K	PCDH20_ENST00000409204.4_Missense_Mutation_p.E565K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	565	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CCTCTCTCCTCGCTGTCGGCA	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		20564	0.0		0.0	False		,,,				2504	0.001																0													118.0	121.0	120.0					13																	61986539		2203	4300	6503	SO:0001583	missense	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1693G>A	13.37:g.61986539C>T	ENSP00000386653:p.Glu565Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E565K	ENST00000409186.1	37	c.1693	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713517	0.48517	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.68025	-0.3;-0.3	6.0	6.0	0.97389	.	0.095490	0.45867	D	0.000323	T	0.62405	0.2425	L	0.50333	1.59	0.39805	D	0.972627	B	0.25206	0.12	B	0.24701	0.055	T	0.62562	-0.6828	10	0.66056	D	0.02	.	13.6648	0.62389	0.0:0.9297:0.0:0.0703	.	565	A8K1K9	.	K	565;565;311	ENSP00000387250:E565K;ENSP00000386653:E565K	ENSP00000351500:E311K	E	-	1	0	PCDH20	60884540	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	6.022000	0.70839	2.846000	0.97976	0.650000	0.86243	GAG	PCDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.433	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	C	NM_022843		61986539	-1	no_errors	ENST00000409186	ensembl	human	known	70_37	missense	SNP	1.000	T
PCDHA11	56138	genome.wustl.edu	37	5	140249551	140249551	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140249551G>T	ENST00000398640.2	+	1	863	c.863G>T	c.(862-864)gGa>gTa	p.G288V	PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	288	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCCCAATGGAAGACACTTA	0.373																																																	0													37.0	37.0	37.0					5																	140249551		1920	4134	6054	SO:0001583	missense	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.863G>T	5.37:g.140249551G>T	ENSP00000381636:p.Gly288Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G288V	ENST00000398640.2	37	c.863	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.711456	0.00712	.	.	ENSG00000249158	ENST00000398640	T	0.61980	0.06	5.58	3.77	0.43336	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.23649	0.0572	N	0.00514	-1.41	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.002	T	0.24548	-1.0157	9	0.02654	T	1	.	8.5558	0.33480	0.2593:0.0:0.7407:0.0	.	288;288	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	V	288	ENSP00000381636:G288V	ENSP00000381636:G288V	G	+	2	0	PCDHA11	140229735	0.000000	0.05858	0.500000	0.27589	0.415000	0.31203	-0.021000	0.12504	2.638000	0.89438	0.563000	0.77884	GGA	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.373	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	G	NM_018902		140249551	+1	no_errors	ENST00000398640	ensembl	human	known	70_37	missense	SNP	0.001	T
PCDHB10	56126	genome.wustl.edu	37	5	140573946	140573946	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140573946C>G	ENST00000239446.4	+	1	2005	c.1821C>G	c.(1819-1821)ctC>ctG	p.L607L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	607	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCAGCTGCTCAAGGCCACGG	0.716																																																	0													5.0	7.0	7.0					5																	140573946		1428	2873	4301	SO:0001819	synonymous_variant	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1821C>G	5.37:g.140573946C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96T99	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L607	ENST00000239446.4	37	c.1821	CCDS4252.1	5																																																																																			PCDHB10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.716	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	HGNC	protein_coding	OTTHUMT00000251821.1	C	NM_018930		140573946	+1	no_errors	ENST00000239446	ensembl	human	known	70_37	silent	SNP	0.072	G
PCDHB2	56133	genome.wustl.edu	37	5	140476557	140476557	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140476557C>T	ENST00000194155.4	+	1	2331	c.2183C>T	c.(2182-2184)tCg>tTg	p.S728L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	728					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCGCTGCTCGGTGCCCGAG	0.677																																																	0													16.0	20.0	18.0					5																	140476557		2134	4168	6302	SO:0001583	missense	56133			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2183C>T	5.37:g.140476557C>T	ENSP00000194155:p.Ser728Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4KMU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S728L	ENST00000194155.4	37	c.2183	CCDS4244.1	5	.	.	.	.	.	.	.	.	.	.	C	4.138	0.023889	0.08006	.	.	ENSG00000112852	ENST00000194155	T	0.47869	0.83	4.45	3.29	0.37713	.	.	.	.	.	T	0.41236	0.1150	M	0.64404	1.975	0.09310	N	1	B	0.19331	0.035	B	0.13407	0.009	T	0.17745	-1.0359	9	0.29301	T	0.29	.	6.8494	0.24006	0.0:0.7464:0.0:0.2536	.	728	Q9Y5E7	PCDB2_HUMAN	L	728	ENSP00000194155:S728L	ENSP00000194155:S728L	S	+	2	0	PCDHB2	140456741	0.000000	0.05858	0.626000	0.29213	0.176000	0.22953	0.601000	0.24119	2.169000	0.68431	0.558000	0.71614	TCG	PCDHB2	-	NULL		0.677	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	HGNC	protein_coding	OTTHUMT00000251801.2	C	NM_018936		140476557	+1	no_errors	ENST00000194155	ensembl	human	known	70_37	missense	SNP	0.002	T
PCDHB6	56130	genome.wustl.edu	37	5	140530897	140530897	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140530897C>T	ENST00000231136.1	+	1	1059	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	PCDHB6_ENST00000543635.1_Silent_p.L217L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	353	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCATCAGCCTCATCCCAGAAA	0.458																																																	0													109.0	101.0	104.0					5																	140530897		2203	4300	6503	SO:0001819	synonymous_variant	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1059C>T	5.37:g.140530897C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8R9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L353	ENST00000231136.1	37	c.1059	CCDS4248.1	5																																																																																			PCDHB6	-	superfamily_Cadherin-like,pfscan_Cadherin		0.458	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	C	NM_018939		140530897	+1	no_errors	ENST00000231136	ensembl	human	known	70_37	silent	SNP	0.005	T
PCDHB7	56129	genome.wustl.edu	37	5	140552567	140552567	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140552567G>C	ENST00000231137.3	+	1	325	c.151G>C	c.(151-153)Gac>Cac	p.D51H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	51	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTGGCAAAAGACCTAGGGTT	0.498																																																	0													91.0	92.0	91.0					5																	140552567		2203	4300	6503	SO:0001583	missense	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.151G>C	5.37:g.140552567G>C	ENSP00000231137:p.Asp51His	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D51H	ENST00000231137.3	37	c.151	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136906	0.37728	.	.	ENSG00000113212	ENST00000231137	T	0.34472	1.36	4.79	3.86	0.44501	Cadherin, N-terminal (1);	.	.	.	.	T	0.68311	0.2987	M	0.93283	3.4	0.42832	D	0.994022	D	0.89917	1.0	D	0.97110	1.0	T	0.78607	-0.2138	9	0.87932	D	0	.	14.5185	0.67835	0.0:0.0:0.8533:0.1467	.	51	Q9Y5E2	PCDB7_HUMAN	H	51	ENSP00000231137:D51H	ENSP00000231137:D51H	D	+	1	0	PCDHB7	140532751	1.000000	0.71417	0.651000	0.29564	0.080000	0.17528	7.493000	0.81493	2.357000	0.79964	0.655000	0.94253	GAC	PCDHB7	-	pfam_Cadherin_N,superfamily_Cadherin-like		0.498	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	G	NM_018940		140552567	+1	no_errors	ENST00000231137	ensembl	human	known	70_37	missense	SNP	0.972	C
PCDHB7	56129	genome.wustl.edu	37	5	140553673	140553673	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140553673C>G	ENST00000231137.3	+	1	1431	c.1257C>G	c.(1255-1257)atC>atG	p.I419M		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	419	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTACAACATCACCATCACCG	0.522																																																	0													143.0	129.0	133.0					5																	140553673		2203	4300	6503	SO:0001583	missense	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1257C>G	5.37:g.140553673C>G	ENSP00000231137:p.Ile419Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I419M	ENST00000231137.3	37	c.1257	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211764	0.39102	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.41400	1.0	4.61	2.68	0.31781	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72606	0.3481	H	0.96269	3.795	0.29695	N	0.840624	D	0.59767	0.986	D	0.72075	0.976	T	0.71234	-0.4653	9	0.87932	D	0	.	10.9682	0.47424	0.0:0.7228:0.1957:0.0814	.	419	Q9Y5E2	PCDB7_HUMAN	M	419;202	ENSP00000231137:I419M	ENSP00000231137:I419M	I	+	3	3	PCDHB7	140533857	0.001000	0.12720	1.000000	0.80357	0.918000	0.54935	-0.646000	0.05403	1.043000	0.40175	-0.145000	0.13849	ATC	PCDHB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.522	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	C	NM_018940		140553673	+1	no_errors	ENST00000231137	ensembl	human	known	70_37	missense	SNP	0.997	G
PCDHB12	56124	genome.wustl.edu	37	5	140590708	140590708	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140590708G>A	ENST00000239450.2	+	1	2418	c.2229G>A	c.(2227-2229)ggG>ggA	p.G743G	PCDHB12_ENST00000541609.1_Silent_p.G406G|PCDHB13_ENST00000341948.4_5'Flank	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	743					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGGCACCGGGACCCTGTCCC	0.602																																																	0													69.0	74.0	72.0					5																	140590708		2203	4300	6503	SO:0001819	synonymous_variant	56124			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2229G>A	5.37:g.140590708G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G743	ENST00000239450.2	37	c.2229	CCDS4254.1	5																																																																																			PCDHB12	-	NULL		0.602	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	G	NM_018932		140590708	+1	no_errors	ENST00000239450	ensembl	human	known	70_37	silent	SNP	1.000	A
PCDHGA3	56112	genome.wustl.edu	37	5	140723829	140723829	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140723829C>G	ENST00000253812.6	+	1	229	c.229C>G	c.(229-231)Ctg>Gtg	p.L77V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	77	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTTTCTCTCTGAATCCGCA	0.597											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													60.0	70.0	67.0					5																	140723829		2173	4293	6466	SO:0001583	missense	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.229C>G	5.37:g.140723829C>G	ENSP00000253812:p.Leu77Val	Somatic	1658	WXS	Illumina HiSeq	Phase_IV	Q9Y5D4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L77V	ENST00000253812.6	37	c.229	CCDS47290.1	5	.	.	.	.	.	.	.	.	.	.	.	1.308	-0.602884	0.03744	.	.	ENSG00000254245	ENST00000253812	T	0.37752	1.18	5.65	5.65	0.86999	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.26907	U	0.021883	T	0.37652	0.1011	L	0.48362	1.52	0.24858	N	0.992364	P;P	0.47191	0.891;0.463	P;P	0.51297	0.534;0.665	T	0.30001	-0.9993	10	0.21540	T	0.41	.	7.16	0.25659	0.0:0.7212:0.1659:0.1129	.	77;77	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	V	77	ENSP00000253812:L77V	ENSP00000253812:L77V	L	+	1	2	PCDHGA3	140704013	0.000000	0.05858	0.998000	0.56505	0.025000	0.11179	-2.244000	0.01193	2.824000	0.97209	0.655000	0.94253	CTG	PCDHGA3	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.597	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	C	NM_018916		140723829	+1	no_errors	ENST00000253812	ensembl	human	known	70_37	missense	SNP	1.000	G
PCDHGA3	56112	genome.wustl.edu	37	5	140725574	140725574	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140725574C>T	ENST00000253812.6	+	1	1974	c.1974C>T	c.(1972-1974)gtC>gtT	p.V658V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	658	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCACTGTCACGCTCACCG	0.692																																																	0													9.0	13.0	12.0					5																	140725574		2083	4151	6234	SO:0001819	synonymous_variant	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1974C>T	5.37:g.140725574C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9Y5D4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V658	ENST00000253812.6	37	c.1974	CCDS47290.1	5																																																																																			PCDHGA3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.692	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	C	NM_018916		140725574	+1	no_errors	ENST00000253812	ensembl	human	known	70_37	silent	SNP	1.000	T
PCDHGA3	56112	genome.wustl.edu	37	5	140725995	140725995	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140725995G>C	ENST00000253812.6	+	1	2395	c.2395G>C	c.(2395-2397)Gaa>Caa	p.E799Q	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	799					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATTTACTTGAAATGAAAGG	0.398																																																	0													64.0	71.0	68.0					5																	140725995		2201	4300	6501	SO:0001583	missense	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2395G>C	5.37:g.140725995G>C	ENSP00000253812:p.Glu799Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9Y5D4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E799Q	ENST00000253812.6	37	c.2395	CCDS47290.1	5	.	.	.	.	.	.	.	.	.	.	.	5.487	0.274800	0.10403	.	.	ENSG00000254245	ENST00000253812	T	0.46819	0.86	5.24	5.24	0.73138	.	.	.	.	.	T	0.40272	0.1110	L	0.54323	1.7	0.09310	N	1	B;B	0.16802	0.009;0.019	B;B	0.18561	0.022;0.009	T	0.26155	-1.0111	9	0.14252	T	0.57	.	8.9552	0.35814	0.0787:0.0:0.771:0.1503	.	799;799	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	Q	799	ENSP00000253812:E799Q	ENSP00000253812:E799Q	E	+	1	0	PCDHGA3	140706179	0.000000	0.05858	0.084000	0.20598	0.035000	0.12851	0.157000	0.16402	2.598000	0.87819	0.563000	0.77884	GAA	PCDHGA3	-	NULL		0.398	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	G	NM_018916		140725995	+1	no_errors	ENST00000253812	ensembl	human	known	70_37	missense	SNP	0.006	C
PCDHGA6	56109	genome.wustl.edu	37	5	140754711	140754711	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140754711G>A	ENST00000517434.1	+	1	1061	c.1061G>A	c.(1060-1062)aGa>aAa	p.R354K	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	354	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGAAGCAGAACAATTGCT	0.483																																																	0													116.0	121.0	119.0					5																	140754711		1941	4141	6082	SO:0001583	missense	56109			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1061G>A	5.37:g.140754711G>A	ENSP00000429601:p.Arg354Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R354K	ENST00000517434.1	37	c.1061	CCDS54926.1	5	.	.	.	.	.	.	.	.	.	.	.	12.60	1.986284	0.35036	.	.	ENSG00000253731	ENST00000517434	T	0.58940	0.3	5.25	4.38	0.52667	Cadherin (1);Cadherin-like (1);	0.209894	0.22606	U	0.057881	T	0.42108	0.1188	N	0.13098	0.295	0.09310	N	1	B;B	0.25272	0.003;0.122	B;B	0.32393	0.012;0.145	T	0.42949	-0.9421	10	0.62326	D	0.03	.	9.9204	0.41462	0.0729:0.1384:0.7887:0.0	.	354;354	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	K	354	ENSP00000429601:R354K	ENSP00000429601:R354K	R	+	2	0	PCDHGA6	140734895	0.000000	0.05858	0.954000	0.39281	0.992000	0.81027	-0.303000	0.08210	1.578000	0.49821	0.655000	0.94253	AGA	PCDHGA6	-	superfamily_Cadherin-like		0.483	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	G	NM_018919		140754711	+1	no_errors	ENST00000517434	ensembl	human	known	70_37	missense	SNP	0.066	A
PCDHGA8	9708	genome.wustl.edu	37	5	140773110	140773110	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140773110C>T	ENST00000398604.2	+	1	730	c.730C>T	c.(730-732)Cac>Tac	p.H244Y	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	244	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTTTTCCTCACCCGATTTA	0.572																																																	0													78.0	84.0	82.0					5																	140773110		2061	4224	6285	SO:0001583	missense	9708			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.730C>T	5.37:g.140773110C>T	ENSP00000381605:p.His244Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MCZ4|O15039	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H244Y	ENST00000398604.2	37	c.730	CCDS47291.1	5	.	.	.	.	.	.	.	.	.	.	.	9.161	1.018599	0.19355	.	.	ENSG00000253767	ENST00000398604	T	0.60797	0.16	5.41	4.53	0.55603	Cadherin (3);Cadherin-like (1);	0.000000	0.30602	U	0.009262	T	0.55226	0.1907	L	0.55481	1.735	0.21386	N	0.999705	B;B	0.10296	0.001;0.003	B;B	0.11329	0.0;0.006	T	0.54523	-0.8281	10	0.87932	D	0	.	15.7067	0.77588	0.0:0.8625:0.1375:0.0	.	244;244	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	Y	244	ENSP00000381605:H244Y	ENSP00000381605:H244Y	H	+	1	0	PCDHGA8	140753294	0.003000	0.15002	0.768000	0.31515	0.441000	0.31987	0.750000	0.26334	1.271000	0.44313	0.655000	0.94253	CAC	PCDHGA8	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.572	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1	C	NM_032088		140773110	+1	no_errors	ENST00000398604	ensembl	human	known	70_37	missense	SNP	0.955	T
PCDHGB6	56100	genome.wustl.edu	37	5	140788169	140788169	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140788169G>C	ENST00000520790.1	+	1	400	c.400G>C	c.(400-402)Gat>Cat	p.D134H	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	134	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCAATTTGATAAAAAGGA	0.383																																																	0													128.0	127.0	127.0					5																	140788169		1834	4106	5940	SO:0001583	missense	56100			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.400G>C	5.37:g.140788169G>C	ENSP00000428603:p.Asp134His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9Y5C5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D134H	ENST00000520790.1	37	c.400	CCDS54929.1	5	.	.	.	.	.	.	.	.	.	.	g	8.670	0.902622	0.17760	.	.	ENSG00000253305	ENST00000520790	T	0.20463	2.07	4.96	0.451	0.16629	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.10766	0.0263	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.002;0.005	T	0.29088	-1.0023	9	0.40728	T	0.16	.	5.0779	0.14642	0.113:0.4572:0.3123:0.1175	.	134;134	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	H	134	ENSP00000428603:D134H	ENSP00000428603:D134H	D	+	1	0	PCDHGB6	140768353	0.000000	0.05858	0.986000	0.45419	0.965000	0.64279	-3.139000	0.00587	0.476000	0.27440	0.467000	0.42956	GAT	PCDHGB6	-	superfamily_Cadherin-like,pfscan_Cadherin		0.383	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1	G	NM_018926		140788169	+1	no_errors	ENST00000520790	ensembl	human	known	70_37	missense	SNP	0.000	C
CFAP221	200373	genome.wustl.edu	37	2	120414017	120414017	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:120414017G>T	ENST00000413369.3	+	24	2581	c.2494G>T	c.(2494-2496)Gca>Tca	p.A832S	PCDP1_ENST00000602047.1_Missense_Mutation_p.A546S	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					GCGGGGCAAAGCACTCAACAC	0.502																																																	0													100.0	99.0	100.0					2																	120414017		2203	4300	6503	SO:0001583	missense	200373																														ENST00000413369.3:c.2494G>T	2.37:g.120414017G>T	ENSP00000393222:p.Ala832Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.A546S	ENST00000413369.3	37	c.1636	CCDS33282.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.754|9.754	1.168265|1.168265	0.21621|0.21621	.|.	.|.	ENSG00000163075|ENSG00000163075	ENST00000295220;ENST00000413369|ENST00000443972	T|T	0.36878|0.48201	1.23|0.82	4.68|4.68	3.73|3.73	0.42828|0.42828	.|.	0.106801|.	0.41097|.	D|.	0.000950|.	T|T	0.42720|0.42720	0.1215|0.1215	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B|.	0.30937|.	0.301|.	B|.	0.31495|.	0.131|.	T|T	0.21827|0.21827	-1.0234|-1.0234	10|7	0.59425|0.40728	D|T	0.04|0.16	-16.9296|-16.9296	9.5595|9.5595	0.39360|0.39360	0.0:0.0:0.7907:0.2093|0.0:0.0:0.7907:0.2093	.|.	832|.	Q4G0U5|.	PCDP1_HUMAN|.	S|N	546;832|390	ENSP00000393222:A832S|ENSP00000413299:K390N	ENSP00000295220:A546S|ENSP00000413299:K390N	A|K	+|+	1|3	0|2	AC069154.2|AC069154.2	120130487|120130487	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.114000|0.114000	0.19823|0.19823	1.632000|1.632000	0.37102|0.37102	2.594000|2.594000	0.87642|0.87642	0.563000|0.563000	0.77884|0.77884	GCA|AAG	PCDP1	-	NULL		0.502	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCDP1	Uniprot_genename	protein_coding	OTTHUMT00000464236.1	G			120414017	+1	no_errors	ENST00000602047	ensembl	human	known	70_37	missense	SNP	0.993	T
PCF11	51585	genome.wustl.edu	37	11	82879498	82879498	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:82879498C>T	ENST00000298281.4	+	8	2573	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	707	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GATCTCCATTCAATGATCGTT	0.353																																																	0													49.0	47.0	48.0					11																	82879498		1857	4092	5949	SO:0001819	synonymous_variant	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2121C>T	11.37:g.82879498C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8W7|O43671|Q6P0X8	Silent	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.F707	ENST00000298281.4	37	c.2121	CCDS44689.1	11																																																																																			PCF11	-	NULL		0.353	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	HGNC	protein_coding	OTTHUMT00000392548.2	C	NM_015885		82879498	+1	no_errors	ENST00000298281	ensembl	human	known	70_37	silent	SNP	1.000	T
PCLO	27445	genome.wustl.edu	37	7	82545481	82545481	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:82545481G>T	ENST00000333891.9	-	7	12158	c.11821C>A	c.(11821-11823)Caa>Aaa	p.Q3941K	PCLO_ENST00000437081.1_Missense_Mutation_p.Q661K|PCLO_ENST00000423517.2_Missense_Mutation_p.Q3941K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGTAGGTTGAACTTGAGGT	0.433																																																	0													351.0	340.0	344.0					7																	82545481		2008	4181	6189	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11821C>A	7.37:g.82545481G>T	ENSP00000334319:p.Gln3941Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.Q3941K	ENST00000333891.9	37	c.11821	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912288	0.33721	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17370	2.28;2.29	5.6	5.6	0.85130	.	.	.	.	.	T	0.37758	0.1015	M	0.61703	1.905	0.45662	D	0.998587	D;D;D	0.60575	0.958;0.988;0.988	B;P;P	0.57911	0.369;0.829;0.829	T	0.07271	-1.0781	9	0.87932	D	0	.	19.6287	0.95691	0.0:0.0:1.0:0.0	.	3872;3941;3941	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	K	3941;3941;661	ENSP00000334319:Q3941K;ENSP00000388393:Q3941K	ENSP00000334319:Q3941K	Q	-	1	0	PCLO	82383417	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.542000	0.73869	2.652000	0.90054	0.563000	0.77884	CAA	PCLO	-	NULL		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	G	NM_014510		82545481	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	1.000	T
PCNP	57092	genome.wustl.edu	37	3	101298450	101298450	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:101298450C>G	ENST00000265260.3	+	2	185				PCNP_ENST00000296024.5_Intron|PCNP_ENST00000486406.1_Intron|PCNP_ENST00000469941.1_Intron	NM_020357.1	NP_065090.1	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein						cell cycle (GO:0007049)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)				large_intestine(1)|lung(1)	2						ATGGGAGCCTCTTCTACTGCC	0.378																																																	0																																										SO:0001627	intron_variant	57092				CCDS2942.1	3q12.3	2006-03-09			ENSG00000081154	ENSG00000081154			30023	protein-coding gene	gene with protein product		615210				12176013	Standard	NM_020357		Approved		uc003dva.3	Q8WW12	OTTHUMG00000159108	ENST00000265260.3:c.65-184C>G	3.37:g.101298450C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBE7|D3DN52|Q53GF3|Q6AI44|Q96CU3|Q9NS81	Missense_Mutation	SNP	NULL	p.L28V	ENST00000265260.3	37	c.82	CCDS2942.1	3																																																																																			PCNP	-	NULL		0.378	PCNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNP	HGNC	protein_coding	OTTHUMT00000353338.2	C	NM_020357		101298450	+1	no_errors	ENST00000498274	ensembl	human	known	70_37	missense	SNP	1.000	G
PCNT	5116	genome.wustl.edu	37	21	47817292	47817292	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:47817292G>C	ENST00000359568.5	+	22	4437	c.4330G>C	c.(4330-4332)Gaa>Caa	p.E1444Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1444					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTCTGAGTTAGAAGAACAGCT	0.567																																																	0													73.0	72.0	73.0					21																	47817292		2203	4300	6503	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4330G>C	21.37:g.47817292G>C	ENSP00000352572:p.Glu1444Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.E1444Q	ENST00000359568.5	37	c.4330	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125536	0.56721	.	.	ENSG00000160299	ENST00000359568	T	0.60299	0.2	5.46	5.46	0.80206	.	0.245397	0.21236	N	0.077900	T	0.78304	0.4262	M	0.83953	2.67	0.35545	D	0.803385	D;D	0.89917	1.0;1.0	D;D	0.83275	0.982;0.996	D	0.83760	0.0214	10	0.49607	T	0.09	.	16.8006	0.85613	0.0:0.0:1.0:0.0	.	1326;1444	O95613-2;O95613	.;PCNT_HUMAN	Q	1444	ENSP00000352572:E1444Q	ENSP00000352572:E1444Q	E	+	1	0	PCNT	46641720	1.000000	0.71417	0.535000	0.28026	0.008000	0.06430	7.658000	0.83755	2.560000	0.86352	0.561000	0.74099	GAA	PCNT	-	NULL		0.567	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	G	NM_006031		47817292	+1	no_errors	ENST00000359568	ensembl	human	known	70_37	missense	SNP	0.997	C
PCNXL2	80003	genome.wustl.edu	37	1	233388160	233388160	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:233388160C>G	ENST00000258229.9	-	7	2302	c.2068G>C	c.(2068-2070)Gaa>Caa	p.E690Q	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	690						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACAGATGTTTCAGGCCCACTG	0.393																																																	0													128.0	120.0	122.0					1																	233388160		1906	4124	6030	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2068G>C	1.37:g.233388160C>G	ENSP00000258229:p.Glu690Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.E690Q	ENST00000258229.9	37	c.2068	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370351	0.82573	.	.	ENSG00000135749	ENST00000258229	T	0.38240	1.15	5.35	5.35	0.76521	.	.	.	.	.	T	0.37812	0.1017	L	0.27053	0.805	0.80722	D	1	P	0.50443	0.935	P	0.48368	0.575	T	0.22417	-1.0217	9	0.62326	D	0.03	.	19.4403	0.94817	0.0:1.0:0.0:0.0	.	690	A6NKB5	PCX2_HUMAN	Q	690	ENSP00000258229:E690Q	ENSP00000258229:E690Q	E	-	1	0	PCNXL2	231454783	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	6.149000	0.71795	2.666000	0.90696	0.557000	0.71058	GAA	PCNXL2	-	NULL		0.393	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	C	NM_014801		233388160	-1	no_errors	ENST00000258229	ensembl	human	known	70_37	missense	SNP	1.000	G
PCNXL2	80003	genome.wustl.edu	37	1	233394536	233394536	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:233394536G>C	ENST00000258229.9	-	5	1306	c.1072C>G	c.(1072-1074)Ctc>Gtc	p.L358V	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	358						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTATCGATGAGAGTAACAGCT	0.512																																																	0													98.0	99.0	99.0					1																	233394536		2017	4191	6208	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1072C>G	1.37:g.233394536G>C	ENSP00000258229:p.Leu358Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.L358V	ENST00000258229.9	37	c.1072	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705368	0.30232	.	.	ENSG00000135749	ENST00000258229	T	0.63255	-0.03	4.73	3.81	0.43845	.	.	.	.	.	T	0.42810	0.1219	L	0.27053	0.805	0.80722	D	1	B	0.23540	0.087	B	0.17433	0.018	T	0.30238	-0.9985	9	0.31617	T	0.26	.	4.9867	0.14192	0.0828:0.1452:0.6222:0.1497	.	358	A6NKB5	PCX2_HUMAN	V	358	ENSP00000258229:L358V	ENSP00000258229:L358V	L	-	1	0	PCNXL2	231461159	1.000000	0.71417	0.061000	0.19648	0.023000	0.10783	2.611000	0.46334	1.340000	0.45581	0.655000	0.94253	CTC	PCNXL2	-	NULL		0.512	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	G	NM_014801		233394536	-1	no_errors	ENST00000258229	ensembl	human	known	70_37	missense	SNP	0.947	C
PCNXL4	64430	genome.wustl.edu	37	14	60581945	60581945	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:60581945C>G	ENST00000406854.1	+	4	1677	c.1123C>G	c.(1123-1125)Cac>Gac	p.H375D	PCNXL4_ENST00000404681.2_Missense_Mutation_p.H375D|PCNXL4_ENST00000406949.1_Missense_Mutation_p.H141D|PCNXL4_ENST00000317623.4_Missense_Mutation_p.H141D			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	375						integral component of membrane (GO:0016021)											CTTGCTTCATCACTTTGCTGG	0.368																																																	0													156.0	145.0	148.0					14																	60581945		1829	4083	5912	SO:0001583	missense	64430			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1123C>G	14.37:g.60581945C>G	ENSP00000384801:p.His375Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	pfam_Pecanex	p.H375D	ENST00000406854.1	37	c.1123		14	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888725	0.33348	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.24151	1.88;1.89;1.87;1.89	5.51	2.65	0.31530	.	.	.	.	.	T	0.22898	0.0553	M	0.62723	1.935	0.80722	D	1	P;P	0.38922	0.454;0.651	B;B	0.32805	0.153;0.115	T	0.04509	-1.0946	9	0.38643	T	0.18	.	10.7071	0.45960	0.0:0.729:0.0:0.271	.	375;141	Q63HM2;B5MC47	CN135_HUMAN;.	D	141;375;141;375	ENSP00000317396:H141D;ENSP00000384801:H375D;ENSP00000385201:H141D;ENSP00000385713:H375D	ENSP00000317396:H141D	H	+	1	0	C14orf135	59651698	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.124000	0.42006	0.800000	0.34041	0.462000	0.41574	CAC	PCNXL4	-	NULL		0.368	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PCNXL4	HGNC	protein_coding	OTTHUMT00000317847.1	C	NM_022495		60581945	+1	no_errors	ENST00000404681	ensembl	human	known	70_37	missense	SNP	1.000	G
PCOLCE2	26577	genome.wustl.edu	37	3	142561848	142561848	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:142561848G>A	ENST00000295992.3	-	4	797	c.491C>T	c.(490-492)tCt>tTt	p.S164F	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.S164F	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	164	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.S164Y(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGTTTTAAAAGAGCCGGAAGG	0.468																																																	1	Substitution - Missense(1)	ovary(1)											81.0	84.0	83.0					3																	142561848		2203	4300	6503	SO:0001583	missense	26577			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.491C>T	3.37:g.142561848G>A	ENSP00000295992:p.Ser164Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain	p.S164F	ENST00000295992.3	37	c.491	CCDS3127.1	3	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299053	0.23650	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.28454	1.61;1.61	5.22	4.32	0.51571	CUB (5);	0.274051	0.42420	N	0.000709	T	0.33381	0.0861	L	0.52266	1.64	0.38163	D	0.939086	B	0.18863	0.031	B	0.27262	0.078	T	0.32693	-0.9897	10	0.72032	D	0.01	-24.3321	15.6884	0.77430	0.0:0.1374:0.8626:0.0	.	164	Q9UKZ9	PCOC2_HUMAN	F	164	ENSP00000295992:S164F;ENSP00000419842:S164F	ENSP00000295992:S164F	S	-	2	0	PCOLCE2	144044538	1.000000	0.71417	0.990000	0.47175	0.072000	0.16883	7.360000	0.79487	1.389000	0.46526	0.555000	0.69702	TCT	PCOLCE2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.468	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE2	HGNC	protein_coding	OTTHUMT00000354509.1	G	NM_013363		142561848	-1	no_errors	ENST00000295992	ensembl	human	known	70_37	missense	SNP	1.000	A
PDCD2L	84306	genome.wustl.edu	37	19	34916921	34916921	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:34916921C>G	ENST00000246535.3	+	7	1020	c.973C>G	c.(973-975)Cta>Gta	p.L325V	CTD-2588C8.8_ENST00000592220.1_RNA|PDCD2L_ENST00000587065.2_Missense_Mutation_p.L23V|UBA2_ENST00000246548.4_5'Flank|UBA2_ENST00000439527.2_5'Flank	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	325					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGGAACAATTCTAGTTTACAC	0.353																																																	0													96.0	98.0	98.0					19																	34916921		2203	4300	6503	SO:0001583	missense	84306			BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.973C>G	19.37:g.34916921C>G	ENSP00000246535:p.Leu325Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_PDCD2_C	p.L325V	ENST00000246535.3	37	c.973	CCDS12438.1	19	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694189	0.68386	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.46	4.41	0.53225	Programmed cell death protein 2, C-terminal (1);	0.068730	0.64402	D	0.000012	T	0.66446	0.2790	L	0.52823	1.66	0.42662	D	0.993489	D	0.76494	0.999	D	0.67725	0.953	T	0.62464	-0.6849	9	0.29301	T	0.29	-10.9706	10.958	0.47368	0.0:0.8531:0.0:0.1469	.	325	Q9BRP1	PDD2L_HUMAN	V	325	.	ENSP00000246535:L325V	L	+	1	2	PDCD2L	39608761	0.912000	0.30974	1.000000	0.80357	0.979000	0.70002	0.029000	0.13666	2.568000	0.86640	0.650000	0.86243	CTA	PDCD2L	-	pfam_PDCD2_C		0.353	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD2L	HGNC	protein_coding	OTTHUMT00000459251.3	C	NM_032346		34916921	+1	no_errors	ENST00000246535	ensembl	human	known	70_37	missense	SNP	1.000	G
PDE1A	5136	genome.wustl.edu	37	2	183387104	183387104	+	5'UTR	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:183387104G>T	ENST00000410103.1	-	0	83				PDE1A_ENST00000435564.1_5'UTR|PDE1A_ENST00000358139.2_5'Flank|PDE1A_ENST00000456212.1_5'Flank|PDE1A_ENST00000536095.1_5'Flank|PDE1A_ENST00000331935.6_5'Flank	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TAGACCCCATGATGATGCTCC	0.413																																																	0													130.0	126.0	127.0					2																	183387104		2202	4300	6502	SO:0001623	5_prime_UTR_variant	5136				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.-1C>A	2.37:g.183387104G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	RNA	SNP	-	NULL	ENST00000410103.1	37	NULL	CCDS33344.1	2																																																																																			PDE1A	-	-		0.413	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1	G			183387104	-1	no_errors	ENST00000482782	ensembl	human	known	70_37	rna	SNP	0.343	T
PDE1B	5153	genome.wustl.edu	37	12	54967164	54967164	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:54967164G>C	ENST00000243052.3	+	9	1298	c.862G>C	c.(862-864)Gat>Cat	p.D288H	PDE1B_ENST00000538346.1_Missense_Mutation_p.D247H|PDE1B_ENST00000550620.1_Missense_Mutation_p.D268H|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	288	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CGTGTACAATGATCGTTCAGT	0.498																																																	0													151.0	135.0	140.0					12																	54967164		2203	4300	6503	SO:0001583	missense	5153			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.862G>C	12.37:g.54967164G>C	ENSP00000243052:p.Asp288His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q92825|Q96KP3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.D288H	ENST00000243052.3	37	c.862	CCDS8882.1	12	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052968	0.75960	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	D;D;D	0.82984	-1.67;-1.67;-1.67	4.59	4.59	0.56863	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.94968	0.8372	H	0.99347	4.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.96799	0.9588	10	0.87932	D	0	.	15.301	0.73952	0.0:0.0:1.0:0.0	.	268;288	Q01064-2;Q01064	.;PDE1B_HUMAN	H	288;247;268	ENSP00000243052:D288H;ENSP00000442559:D247H;ENSP00000448519:D268H	ENSP00000243052:D288H	D	+	1	0	PDE1B	53253431	1.000000	0.71417	0.618000	0.29105	0.771000	0.43674	9.516000	0.98017	2.543000	0.85770	0.650000	0.86243	GAT	PDE1B	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.498	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE1B	HGNC	protein_coding	OTTHUMT00000406203.1	G			54967164	+1	no_errors	ENST00000243052	ensembl	human	known	70_37	missense	SNP	1.000	C
PDE4A	5141	genome.wustl.edu	37	19	10571734	10571734	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:10571734G>A	ENST00000352831.6	+	11	1530	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N	PDE4A_ENST00000592685.1_Missense_Mutation_p.D452N|PDE4A_ENST00000344979.3_Missense_Mutation_p.D235N|PDE4A_ENST00000293683.5_Missense_Mutation_p.D448N|PDE4A_ENST00000440014.2_Missense_Mutation_p.D413N|PDE4A_ENST00000380702.2_Missense_Mutation_p.D452N	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	474	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TGCCATCCACGATGTGGATCA	0.597																																																	0													47.0	41.0	43.0					19																	10571734		2203	4300	6503	SO:0001583	missense	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1420G>A	19.37:g.10571734G>A	ENSP00000270474:p.Asp474Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.D474N	ENST00000352831.6	37	c.1420	CCDS45961.1	19	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595852	0.86953	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	4.15	4.15	0.48705	Metal-dependent phosphohydrolase, HD domain (1);-cyclic nucleotide phosphodiesterase, conserved site (1);5&apos (3);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (3);	0.000000	0.85682	D	0.000000	D	0.95050	0.8397	H	0.97806	4.08	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.989;1.0;0.998;0.993;0.997	D	0.96553	0.9409	10	0.87932	D	0	.	13.9646	0.64200	0.0:0.0:1.0:0.0	.	140;235;413;448;474	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	N	452;474;448;413;235;140	ENSP00000370078:D452N;ENSP00000270474:D474N;ENSP00000293683:D448N;ENSP00000394754:D413N;ENSP00000341007:D235N	ENSP00000293683:D448N	D	+	1	0	PDE4A	10432734	1.000000	0.71417	0.573000	0.28510	0.485000	0.33311	9.520000	0.98027	2.172000	0.68678	0.555000	0.69702	GAT	PDE4A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.597	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4A	HGNC	protein_coding	OTTHUMT00000451244.1	G			10571734	+1	no_errors	ENST00000352831	ensembl	human	known	70_37	missense	SNP	0.997	A
PDE4DIP	9659	genome.wustl.edu	37	1	144866706	144866706	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:144866706C>G	ENST00000369354.3	-	34	5725	c.5536G>C	c.(5536-5538)Gag>Cag	p.E1846Q	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1846Q|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E1982Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1740Q|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1931Q|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1846					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCAAGATGCTCTTCCAGCAGG	0.597			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													88.0	90.0	90.0					1																	144866706		2203	4296	6499	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5536G>C	1.37:g.144866706C>G	ENSP00000358360:p.Glu1846Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.E1846Q	ENST00000369354.3	37	c.5536	CCDS30824.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.476697|4.476697	0.84640|0.84640	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130	T;T;T;T;T|.	0.04706|.	3.57;3.79;3.78;3.89;3.84|.	5.13|5.13	4.19|4.19	0.49359|0.49359	.|.	.|.	.|.	.|.	.|.	T|T	0.68622|0.68622	0.3021|0.3021	M|M	0.81112|0.81112	2.525|2.525	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.77557|.	0.964;0.99|.	T|T	0.69800|0.69800	-0.5047|-0.5047	9|5	0.87932|.	D|.	0|.	.|.	11.8828|11.8828	0.52586|0.52586	0.0:0.9125:0.0:0.0875|0.0:0.9125:0.0:0.0875	.|.	1740;1846|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	Q|N	1740;1846;1846;1931;1982|2	ENSP00000327209:E1740Q;ENSP00000358360:E1846Q;ENSP00000358363:E1846Q;ENSP00000435654:E1931Q;ENSP00000358366:E1982Q|.	ENSP00000327209:E1740Q|.	E|K	-|-	1|3	0|2	PDE4DIP|PDE4DIP	143578063|143578063	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	6.833000|6.833000	0.75334|0.75334	2.672000|2.672000	0.90937|0.90937	0.650000|0.650000	0.86243|0.86243	GAG|AAG	PDE4DIP	-	NULL		0.597	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	C	NM_022359		144866706	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	missense	SNP	1.000	G
PDE5A	8654	genome.wustl.edu	37	4	120549699	120549699	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:120549699G>A	ENST00000354960.3	-	1	447	c.128C>T	c.(127-129)tCa>tTa	p.S43L	PDE5A_ENST00000394439.1_5'Flank|PDE5A_ENST00000264805.5_5'Flank	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	43					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AACAAAGTATGAGAAGGTAAA	0.557											OREG0016307	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													104.0	94.0	97.0					4																	120549699		2203	4300	6503	SO:0001583	missense	8654			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.128C>T	4.37:g.120549699G>A	ENSP00000347046:p.Ser43Leu	Somatic	1504	WXS	Illumina HiSeq	Phase_IV	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.S43L	ENST00000354960.3	37	c.128	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860527	0.91433	.	.	ENSG00000138735	ENST00000354960	T	0.64618	-0.11	5.98	5.98	0.97165	.	0.402120	0.27429	N	0.019420	T	0.61615	0.2361	L	0.53249	1.67	0.80722	D	1	B	0.19583	0.037	B	0.12837	0.008	T	0.56347	-0.7994	10	0.52906	T	0.07	.	19.2081	0.93742	0.0:0.0:1.0:0.0	.	43	O76074	PDE5A_HUMAN	L	43	ENSP00000347046:S43L	ENSP00000347046:S43L	S	-	2	0	PDE5A	120769147	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.435000	0.66532	2.837000	0.97791	0.591000	0.81541	TCA	PDE5A	-	NULL		0.557	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	G	NM_001083		120549699	-1	no_errors	ENST00000354960	ensembl	human	known	70_37	missense	SNP	1.000	A
PDE6A	5145	genome.wustl.edu	37	5	149324192	149324192	+	Silent	SNP	C	C	T	rs146811139		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:149324192C>T	ENST00000255266.5	-	1	164	c.45G>A	c.(43-45)tcG>tcA	p.S15S		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	15					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	AGCCAATATTCGAGTCCAGGA	0.572																																																	0								C		0,4406		0,0,2203	46.0	40.0	42.0		45	-11.4	0.0	5	dbSNP_134	42	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDE6A	NM_000440.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		15/861	149324192	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5145				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.45G>A	5.37:g.149324192C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P638	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.S15	ENST00000255266.5	37	c.45	CCDS4299.1	5																																																																																			PDE6A	-	NULL		0.572	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	HGNC	protein_coding	OTTHUMT00000252326.2	C			149324192	-1	no_errors	ENST00000255266	ensembl	human	known	70_37	silent	SNP	0.124	T
PDHX	8050	genome.wustl.edu	37	11	34988258	34988258	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:34988258C>T	ENST00000227868.4	+	6	797	c.713C>T	c.(712-714)aCa>aTa	p.T238I	PDHX_ENST00000430469.2_Intron|PDHX_ENST00000448838.3_Missense_Mutation_p.T223I			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	238					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CCAGCCCCCACAGCCACTCCC	0.532																																																	0													116.0	116.0	116.0					11																	34988258		2202	4298	6500	SO:0001583	missense	8050			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.713C>T	11.37:g.34988258C>T	ENSP00000227868:p.Thr238Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl	p.T238I	ENST00000227868.4	37	c.713	CCDS7896.1	11	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332509	0.24167	.	.	ENSG00000110435	ENST00000448838;ENST00000227868	T;T	0.24723	2.43;1.84	5.6	3.75	0.43078	.	0.609778	0.17861	N	0.159531	T	0.12518	0.0304	N	0.08118	0	0.20074	N	0.999935	B;B	0.30686	0.29;0.112	B;B	0.26693	0.072;0.047	T	0.17048	-1.0382	10	0.39692	T	0.17	1.7971	9.7127	0.40256	0.0:0.8388:0.0:0.1612	.	223;238	E9PB14;O00330	.;ODPX_HUMAN	I	223;238	ENSP00000389404:T223I;ENSP00000227868:T238I	ENSP00000227868:T238I	T	+	2	0	PDHX	34944834	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	0.878000	0.28126	0.749000	0.32854	-0.261000	0.10672	ACA	PDHX	-	NULL		0.532	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHX	HGNC	protein_coding	OTTHUMT00000390017.1	C	NM_003477		34988258	+1	no_errors	ENST00000227868	ensembl	human	known	70_37	missense	SNP	0.030	T
PDIA5	10954	genome.wustl.edu	37	3	122821309	122821309	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:122821309G>A	ENST00000316218.7	+	4	404	c.309G>A	c.(307-309)ccG>ccA	p.P103P		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	103					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		ACCTGAGCCCGAAGGACAAAA	0.393																																																	0													124.0	117.0	119.0					3																	122821309		2203	4300	6503	SO:0001819	synonymous_variant	10954			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.309G>A	3.37:g.122821309G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN95|Q9BV43	Silent	SNP	pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.P103	ENST00000316218.7	37	c.309	CCDS3020.1	3																																																																																			PDIA5	-	superfamily_Thioredoxin-like_fold		0.393	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA5	HGNC	protein_coding	OTTHUMT00000356192.1	G	NM_006810		122821309	+1	no_errors	ENST00000316218	ensembl	human	known	70_37	silent	SNP	0.899	A
PDIA5	10954	genome.wustl.edu	37	3	122865098	122865098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:122865098G>A	ENST00000316218.7	+	13	1229	c.1134G>A	c.(1132-1134)tgG>tgA	p.W378*	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	378	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.|Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TTCTCGAGTGGATGCAAAAGT	0.448																																																	0													95.0	97.0	96.0					3																	122865098		2203	4300	6503	SO:0001587	stop_gained	10954			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1134G>A	3.37:g.122865098G>A	ENSP00000323313:p.Trp378*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN95|Q9BV43	Nonsense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.W378*	ENST00000316218.7	37	c.1134	CCDS3020.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.777890	0.96929	.	.	ENSG00000065485	ENST00000316218	.	.	.	5.33	5.33	0.75918	.	0.304055	0.36972	N	0.002312	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	17.56	0.87903	0.0:0.0:1.0:0.0	.	.	.	.	X	378	.	ENSP00000323313:W378X	W	+	3	0	PDIA5	124347788	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.711000	0.74675	2.644000	0.89710	0.655000	0.94253	TGG	PDIA5	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.448	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA5	HGNC	protein_coding	OTTHUMT00000356192.1	G	NM_006810		122865098	+1	no_errors	ENST00000316218	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PDK4	5166	genome.wustl.edu	37	7	95216836	95216836	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:95216836G>A	ENST00000005178.5	-	9	1072	c.875C>T	c.(874-876)tCa>tTa	p.S292L		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	292	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TCCTCTGTCTGAAATCTAAAA	0.393																																																	0													57.0	57.0	57.0					7																	95216836		2203	4300	6503	SO:0001583	missense	5166			U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.875C>T	7.37:g.95216836G>A	ENSP00000005178:p.Ser292Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.S292L	ENST00000005178.5	37	c.875	CCDS5643.1	7	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966190	0.92855	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.56941	0.43	5.61	5.61	0.85477	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.82692	-0.0331	10	0.87932	D	0	.	20.0173	0.97481	0.0:0.0:1.0:0.0	.	292	Q16654	PDK4_HUMAN	L	292;256	ENSP00000005178:S292L	ENSP00000005178:S292L	S	-	2	0	PDK4	95054772	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.768000	0.47645	2.814000	0.96858	0.591000	0.81541	TCA	PDK4	-	pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core		0.393	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK4	HGNC	protein_coding	OTTHUMT00000333298.1	G	NM_002612		95216836	-1	no_errors	ENST00000005178	ensembl	human	known	70_37	missense	SNP	1.000	A
PDLIM7	9260	genome.wustl.edu	37	5	176917893	176917893	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:176917893C>T	ENST00000355841.2	-	7	616	c.550G>A	c.(550-552)Gag>Aag	p.E184K	PDLIM7_ENST00000356618.4_Missense_Mutation_p.E184K|PDLIM7_ENST00000359895.2_Missense_Mutation_p.E150K|PDLIM7_ENST00000393551.1_Missense_Mutation_p.E184K|PDLIM7_ENST00000355572.2_Missense_Mutation_p.E184K	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	184					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGTGCTCCTCATCCGGGTCT	0.602																																																	0													59.0	59.0	59.0					5																	176917893		2203	4300	6503	SO:0001583	missense	9260			BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.550G>A	5.37:g.176917893C>T	ENSP00000348099:p.Glu184Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.E184K	ENST00000355841.2	37	c.550	CCDS4422.1	5	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145205	0.57044	.	.	ENSG00000196923	ENST00000359895;ENST00000356618;ENST00000355841;ENST00000393551;ENST00000505074;ENST00000355572	T;T;T;T;T;T	0.50001	0.88;2.26;0.76;2.26;2.22;2.28	3.56	3.56	0.40772	.	0.228496	0.25369	U	0.031180	T	0.51278	0.1665	L	0.58101	1.795	0.40484	D	0.980479	B;P;B;B	0.48911	0.087;0.917;0.029;0.005	B;P;B;B	0.48598	0.037;0.583;0.01;0.008	T	0.54091	-0.8345	10	0.30854	T	0.27	.	15.2991	0.73933	0.0:1.0:0.0:0.0	.	184;184;184;150	Q9NR12-6;Q9NR12-4;Q9NR12;Q9NR12-2	.;.;PDLI7_HUMAN;.	K	150;184;184;184;184;184	ENSP00000352964:E150K;ENSP00000349030:E184K;ENSP00000348099:E184K;ENSP00000377182:E184K;ENSP00000426213:E184K;ENSP00000347776:E184K	ENSP00000347776:E184K	E	-	1	0	PDLIM7	176850499	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.174000	0.65015	1.990000	0.58119	0.467000	0.42956	GAG	PDLIM7	-	NULL		0.602	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDLIM7	HGNC	protein_coding	OTTHUMT00000253423.1	C	NM_005451		176917893	-1	no_errors	ENST00000355841	ensembl	human	known	70_37	missense	SNP	1.000	T
PDLIM7	9260	genome.wustl.edu	37	5	176918017	176918017	+	Missense_Mutation	SNP	C	C	T	rs376862538		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:176918017C>T	ENST00000355841.2	-	6	595	c.529G>A	c.(529-531)Gag>Aag	p.E177K	PDLIM7_ENST00000356618.4_Missense_Mutation_p.E177K|PDLIM7_ENST00000359895.2_Missense_Mutation_p.E143K|PDLIM7_ENST00000393551.1_Missense_Mutation_p.E177K|PDLIM7_ENST00000355572.2_Missense_Mutation_p.E177K	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	177					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTACTGAACTCGGTGCCTGTG	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15930	0.0		0.0	False		,,,				2504	0.0																0								C	LYS/GLU,LYS/GLU,LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	28.0	31.0	30.0		529,427,529	4.3	1.0	5		30	0,8600		0,0,4300	no	missense,missense,missense	PDLIM7	NM_005451.3,NM_203352.1,NM_213636.1	56,56,56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	177/458,143/424,177/223	176918017	2,13004	2203	4300	6503	SO:0001583	missense	9260			BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.529G>A	5.37:g.176918017C>T	ENSP00000348099:p.Glu177Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.E177K	ENST00000355841.2	37	c.529	CCDS4422.1	5	.	.	.	.	.	.	.	.	.	.	C	31	5.105022	0.94245	4.54E-4	0.0	ENSG00000196923	ENST00000359895;ENST00000356618;ENST00000355841;ENST00000393551;ENST00000505074;ENST00000355572;ENST00000393546	T;T;T;T;T;T;T	0.55760	0.73;1.77;0.5;1.77;1.95;2.04;1.87	4.34	4.34	0.51931	.	0.461581	0.16119	N	0.228732	T	0.72755	0.3500	M	0.73598	2.24	0.47009	D	0.999281	P;D;P;P	0.89917	0.775;1.0;0.894;0.625	P;D;B;B	0.73380	0.472;0.98;0.296;0.088	T	0.76686	-0.2868	10	0.72032	D	0.01	.	16.8686	0.86035	0.0:1.0:0.0:0.0	.	177;177;177;143	Q9NR12-6;Q9NR12-4;Q9NR12;Q9NR12-2	.;.;PDLI7_HUMAN;.	K	143;177;177;177;177;177;194	ENSP00000352964:E143K;ENSP00000349030:E177K;ENSP00000348099:E177K;ENSP00000377182:E177K;ENSP00000426213:E177K;ENSP00000347776:E177K;ENSP00000377177:E194K	ENSP00000347776:E177K	E	-	1	0	PDLIM7	176850623	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.301000	0.78850	1.972000	0.57404	0.467000	0.42956	GAG	PDLIM7	-	NULL		0.642	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDLIM7	HGNC	protein_coding	OTTHUMT00000253423.1	C	NM_005451		176918017	-1	no_errors	ENST00000355841	ensembl	human	known	70_37	missense	SNP	1.000	T
PDSS2	57107	genome.wustl.edu	37	6	107780455	107780455	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:107780455C>G	ENST00000369037.4	-	1	312	c.35G>C	c.(34-36)cGt>cCt	p.R12P	PDSS2_ENST00000453874.2_Missense_Mutation_p.R12P|PDSS2_ENST00000369031.4_Missense_Mutation_p.R12P	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	12					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		TCCAAGATAACGTGGCAAGTG	0.622											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													45.0	50.0	48.0					6																	107780455		2203	4300	6503	SO:0001583	missense	57107			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.35G>C	6.37:g.107780455C>G	ENSP00000358033:p.Arg12Pro	Somatic	1407	WXS	Illumina HiSeq	Phase_IV	Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.R12P	ENST00000369037.4	37	c.35	CCDS5059.1	6	.	.	.	.	.	.	.	.	.	.	C	9.883	1.202102	0.22121	.	.	ENSG00000164494	ENST00000369037;ENST00000453874;ENST00000369031	T;T;T	0.72942	-0.7;-0.12;0.82	4.39	2.63	0.31362	.	0.469213	0.19081	N	0.123246	T	0.32793	0.0841	N	0.08118	0	0.09310	N	1	B;B;B;B	0.29552	0.052;0.248;0.052;0.052	B;B;B;B	0.38921	0.044;0.285;0.065;0.023	T	0.25187	-1.0139	10	0.41790	T	0.15	.	7.141	0.25556	0.0:0.7997:0.0:0.2003	.	12;12;12;12	B4DKU5;Q86YH6-2;B2RE48;Q86YH6	.;.;.;DLP1_HUMAN	P	12	ENSP00000358033:R12P;ENSP00000399691:R12P;ENSP00000358027:R12P	ENSP00000358027:R12P	R	-	2	0	PDSS2	107887148	0.023000	0.18921	0.005000	0.12908	0.351000	0.29236	1.027000	0.30115	0.798000	0.33994	-0.137000	0.14449	CGT	PDSS2	-	NULL		0.622	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDSS2	HGNC	protein_coding	OTTHUMT00000131954.1	C	NM_020381		107780455	-1	no_errors	ENST00000369037	ensembl	human	known	70_37	missense	SNP	0.028	G
PDZD2	23037	genome.wustl.edu	37	5	32048674	32048674	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:32048674G>A	ENST00000438447.1	+	8	1937	c.1549G>A	c.(1549-1551)Gaa>Aaa	p.E517K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E517K			O15018	PDZD2_HUMAN	PDZ domain containing 2	517					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCAGTTGAAGAATATAACGA	0.522																																																	0													50.0	52.0	51.0					5																	32048674		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1549G>A	5.37:g.32048674G>A	ENSP00000402033:p.Glu517Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E517K	ENST00000438447.1	37	c.1549	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.393874	0.96009	.	.	ENSG00000133401	ENST00000438447;ENST00000282493	T;T	0.07908	3.15;3.15	5.71	5.71	0.89125	.	0.000000	0.46758	D	0.000268	T	0.20618	0.0496	L	0.32530	0.975	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.00316	-1.1823	10	0.48119	T	0.1	.	17.3615	0.87351	0.0:0.0:1.0:0.0	.	343;517	B4E3P2;O15018	.;PDZD2_HUMAN	K	517	ENSP00000402033:E517K;ENSP00000282493:E517K	ENSP00000282493:E517K	E	+	1	0	PDZD2	32084431	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.899000	0.87370	2.709000	0.92574	0.655000	0.94253	GAA	PDZD2	-	NULL		0.522	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	G			32048674	+1	no_errors	ENST00000282493	ensembl	human	known	70_37	missense	SNP	1.000	A
PDZK1IP1	10158	genome.wustl.edu	37	1	47650858	47650858	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:47650858G>A	ENST00000294338.2	-	3	299				PDZK1IP1_ENST00000371885.1_Intron|PDZK1IP1_ENST00000491793.1_5'UTR	NM_005764.3	NP_005755.1	Q13113	PDZ1I_HUMAN	PDZK1 interacting protein 1							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)	3						TCACAAGCCCGAAGGCTAGCA	0.622																																																	0																																										SO:0001627	intron_variant	10158			U21049	CCDS546.1	1p33	2008-02-05			ENSG00000162366	ENSG00000162366			16887	protein-coding gene	gene with protein product		607178				9815914, 8701988, 12754212, 12837682	Standard	NM_005764		Approved	DD96, MAP17, SPAP	uc001cqw.3	Q13113	OTTHUMG00000007852	ENST00000294338.2:c.177-89C>T	1.37:g.47650858G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ICT9|Q96EI1	RNA	SNP	-	NULL	ENST00000294338.2	37	NULL	CCDS546.1	1																																																																																			PDZK1IP1	-	-		0.622	PDZK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZK1IP1	HGNC	protein_coding	OTTHUMT00000021655.1	G	NM_005764		47650858	-1	no_errors	ENST00000491793	ensembl	human	known	70_37	rna	SNP	0.006	A
PDZRN4	29951	genome.wustl.edu	37	12	41966994	41966994	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:41966994G>A	ENST00000402685.2	+	10	2421	c.2413G>A	c.(2413-2415)Gaa>Aaa	p.E805K	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E547K|PDZRN4_ENST00000298919.7_Missense_Mutation_p.E545K	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	805							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTGTAGCGCTGAAAGCAAGGA	0.517																																																	0													151.0	153.0	152.0					12																	41966994		2203	4300	6503	SO:0001583	missense	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2413G>A	12.37:g.41966994G>A	ENSP00000384197:p.Glu805Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.E805K	ENST00000402685.2	37	c.2413	CCDS53777.1	12	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322194	0.41096	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.41400	1.0;1.0;1.0	5.34	5.34	0.76211	.	1.317180	0.05237	N	0.511531	T	0.36771	0.0979	N	0.21194	0.64	0.80722	D	1	P;B;B	0.52842	0.956;0.09;0.041	B;B;B	0.38500	0.275;0.137;0.096	T	0.52419	-0.8578	10	0.31617	T	0.26	-17.8391	19.939	0.97151	0.0:0.0:1.0:0.0	.	805;545;547	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	K	805;547;545	ENSP00000384197:E805K;ENSP00000439990:E547K;ENSP00000298919:E545K	ENSP00000298919:E545K	E	+	1	0	PDZRN4	40253261	0.991000	0.36638	0.771000	0.31576	0.468000	0.32798	4.449000	0.60034	2.890000	0.99128	0.650000	0.86243	GAA	PDZRN4	-	NULL		0.517	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	G	NM_013377		41966994	+1	no_errors	ENST00000402685	ensembl	human	known	70_37	missense	SNP	0.998	A
PEF1	553115	genome.wustl.edu	37	1	32098193	32098193	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:32098193G>C	ENST00000373703.4	-	4	550	c.528C>G	c.(526-528)ttC>ttG	p.F176L	PEF1_ENST00000492061.1_5'Flank	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	176	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)|response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|poly(A) RNA binding (GO:0044822)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		ACAGGGCTGAGAAGCCGTAGA	0.552																																																	0													54.0	53.0	53.0					1																	32098193		2203	4300	6503	SO:0001583	missense	553115				CCDS345.1	1p34	2013-01-10			ENSG00000162517	ENSG00000162517		"""EF-hand domain containing"""	30009	protein-coding gene	gene with protein product	"""peflin"""	610033				10486255, 11883899	Standard	NM_012392		Approved	PEF1A	uc001bth.2	Q9UBV8	OTTHUMG00000003877	ENST00000373703.4:c.528C>G	1.37:g.32098193G>C	ENSP00000362807:p.Phe176Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.F176L	ENST00000373703.4	37	c.528	CCDS345.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312760	0.81358	.	.	ENSG00000162517	ENST00000373703	D	0.96365	-3.99	3.95	3.95	0.45737	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.97514	0.9186	M	0.86268	2.805	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.96958	0.9699	10	0.87932	D	0	.	6.0642	0.19854	0.2039:0.0:0.7961:0.0	.	176	Q9UBV8	PEF1_HUMAN	L	176	ENSP00000362807:F176L	ENSP00000362807:F176L	F	-	3	2	PEF1	31870780	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	4.507000	0.60434	2.497000	0.84241	0.462000	0.41574	TTC	PEF1	-	smart_EF_hand_Ca-bd		0.552	PEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEF1	HGNC	protein_coding	OTTHUMT00000011046.1	G	NM_012392		32098193	-1	no_errors	ENST00000373703	ensembl	human	known	70_37	missense	SNP	1.000	C
PFAS	5198	genome.wustl.edu	37	17	8161487	8161487	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:8161487G>C	ENST00000314666.6	+	11	1439	c.1306G>C	c.(1306-1308)Gac>Cac	p.D436H	PFAS_ENST00000545834.1_Missense_Mutation_p.D12H	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	436					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CATGGAAGCTGACCACATAAG	0.612																																																	0													70.0	69.0	69.0					17																	8161487		2203	4300	6503	SO:0001583	missense	5198			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1306G>C	17.37:g.8161487G>C	ENSP00000313490:p.Asp436His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8V8	Missense_Mutation	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth	p.D436H	ENST00000314666.6	37	c.1306	CCDS11136.1	17	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467678	0.26335	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.44881	1.43;0.91	5.78	2.69	0.31865	PurM, N-terminal-like (1);	0.700302	0.14653	N	0.306488	T	0.33556	0.0867	L	0.39245	1.2	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29518	-1.0009	10	0.87932	D	0	-4.7777	9.3494	0.38129	0.2359:0.0:0.7641:0.0	.	436	O15067	PUR4_HUMAN	H	12;436	ENSP00000441706:D12H;ENSP00000313490:D436H	ENSP00000313490:D436H	D	+	1	0	PFAS	8102212	0.000000	0.05858	0.750000	0.31169	0.748000	0.42578	0.009000	0.13219	0.352000	0.24053	0.561000	0.74099	GAC	PFAS	-	superfamily_PurM_N-like,tigrfam_PRibForGlyAmidine_synth		0.612	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	HGNC	protein_coding	OTTHUMT00000226994.2	G			8161487	+1	no_errors	ENST00000314666	ensembl	human	known	70_37	missense	SNP	0.073	C
PEMT	10400	genome.wustl.edu	37	17	17412829	17412829	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:17412829C>T	ENST00000395783.1	-	5	565	c.386G>A	c.(385-387)aGa>aAa	p.R129K	PEMT_ENST00000395781.2_Missense_Mutation_p.R166K|RP11-524F11.1_ENST00000582325.1_RNA|PEMT_ENST00000255389.5_Missense_Mutation_p.R166K|PEMT_ENST00000484838.2_5'UTR|PEMT_ENST00000395782.1_Missense_Mutation_p.R129K|PEMT_ENST00000435340.2_Missense_Mutation_p.R144K	NM_007169.2	NP_009100.2	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	129					cell proliferation (GO:0008283)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	phosphatidyl-N-dimethylethanolamine N-methyltransferase activity (GO:0080101)|phosphatidyl-N-methylethanolamine N-methyltransferase activity (GO:0000773)|phosphatidylethanolamine N-methyltransferase activity (GO:0004608)			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		CACGGTCACTCTCGCCTCCTT	0.587																																																	0													190.0	146.0	161.0					17																	17412829		2203	4300	6503	SO:0001583	missense	10400			AF176806	CCDS11186.1, CCDS11187.1, CCDS58520.1	17p11.2	2008-02-05			ENSG00000133027	ENSG00000133027	2.1.1.17		8830	protein-coding gene	gene with protein product		602391				9989271, 17881348	Standard	NM_148173		Approved	PEMPT, PEMT2	uc002grl.4	Q9UBM1	OTTHUMG00000059290	ENST00000395783.1:c.386G>A	17.37:g.17412829C>T	ENSP00000379129:p.Arg129Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZ66|B4DY41|D3DXC3|Q6IAQ5|Q86VL3|Q9BW86|Q9UHY6|Q9Y6V9	Missense_Mutation	SNP	pfam_PEMT,pirsf_PEMT/MFAP	p.R166K	ENST00000395783.1	37	c.497	CCDS11187.1	17	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935762	0.34189	.	.	ENSG00000133027	ENST00000255389;ENST00000395783;ENST00000395782;ENST00000435340;ENST00000395781;ENST00000421096	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.8	3.82	0.43975	.	0.049738	0.85682	D	0.000000	T	0.25680	0.0625	N	0.21508	0.67	0.36075	D	0.842415	B;B;B	0.26400	0.064;0.148;0.017	B;B;B	0.34489	0.184;0.046;0.045	T	0.16660	-1.0395	10	0.09338	T	0.73	-9.1568	6.443	0.21861	0.0:0.7951:0.0:0.2049	.	166;166;129	A8MZ66;Q9UBM1-2;Q9UBM1	.;.;PEMT_HUMAN	K	166;129;129;144;166;166	ENSP00000255389:R166K;ENSP00000379129:R129K;ENSP00000379128:R129K;ENSP00000391288:R144K;ENSP00000379127:R166K	ENSP00000255389:R166K	R	-	2	0	PEMT	17353554	1.000000	0.71417	0.988000	0.46212	0.305000	0.27757	4.137000	0.58010	2.188000	0.69820	0.313000	0.20887	AGA	PEMT	-	pfam_PEMT,pirsf_PEMT/MFAP		0.587	PEMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PEMT	HGNC	protein_coding	OTTHUMT00000131657.1	C	NM_007169		17412829	-1	no_errors	ENST00000255389	ensembl	human	known	70_37	missense	SNP	1.000	T
PGBD1	84547	genome.wustl.edu	37	6	28269029	28269029	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:28269029G>C	ENST00000405948.2	+	7	1818	c.1398G>C	c.(1396-1398)ttG>ttC	p.L466F	PGBD1_ENST00000259883.3_Missense_Mutation_p.L466F	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	466						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TCTTACTTTTGAGTGGATTTA	0.393																																																	0													169.0	168.0	168.0					6																	28269029		2203	4300	6503	SO:0001583	missense	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1398G>C	6.37:g.28269029G>C	ENSP00000385213:p.Leu466Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN	p.L466F	ENST00000405948.2	37	c.1398	CCDS4648.1	6	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613275	0.28712	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.23147	1.92;1.92	4.66	1.85	0.25348	.	0.426470	0.17587	N	0.168887	T	0.08626	0.0214	L	0.45137	1.4	0.24912	N	0.992032	B	0.26147	0.143	B	0.34093	0.175	T	0.34850	-0.9812	10	0.30854	T	0.27	-15.6944	6.9761	0.24677	0.0931:0.3346:0.5723:0.0	.	466	Q96JS3	PGBD1_HUMAN	F	466	ENSP00000385213:L466F;ENSP00000259883:L466F	ENSP00000259883:L466F	L	+	3	2	PGBD1	28377008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.279000	0.33191	0.273000	0.22049	0.655000	0.94253	TTG	PGBD1	-	NULL		0.393	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	HGNC	protein_coding	OTTHUMT00000040188.2	G			28269029	+1	no_errors	ENST00000259883	ensembl	human	known	70_37	missense	SNP	1.000	C
PGK1	5230	genome.wustl.edu	37	X	77380791	77380791	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:77380791C>T	ENST00000373316.4	+	10	1281				PGK1_ENST00000442431.1_Intron|PGK1_ENST00000476531.1_3'UTR|PGK1_ENST00000537456.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1						carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	TCTTTTCTCTCTTTTCCCTTT	0.463																																																	0													49.0	47.0	48.0					X																	77380791		2203	4296	6499	SO:0001627	intron_variant	5230			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.1115-33C>T	X.37:g.77380791C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	RNA	SNP	-	NULL	ENST00000373316.4	37	NULL	CCDS14438.1	X																																																																																			PGK1	-	-		0.463	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK1	HGNC	protein_coding	OTTHUMT00000057310.1	C			77380791	+1	no_errors	ENST00000476531	ensembl	human	known	70_37	rna	SNP	0.000	T
PHC2	1912	genome.wustl.edu	37	1	33838043	33838043	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:33838043G>C	ENST00000257118.5	-	2	233	c.180C>G	c.(178-180)atC>atG	p.I60M	PHC2_ENST00000419414.2_Missense_Mutation_p.I60M|PHC2_ENST00000373416.1_De_novo_Start_InFrame|PHC2_ENST00000431992.1_Missense_Mutation_p.I60M	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	60	Gln-rich.				multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGCCTGCTGGATCACCTGAG	0.637																																																	0													19.0	21.0	20.0					1																	33838043		2202	4300	6502	SO:0001583	missense	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.180C>G	1.37:g.33838043G>C	ENSP00000257118:p.Ile60Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.I60M	ENST00000257118.5	37	c.180	CCDS378.1	1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508992	0.64410	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000419414	T;T;T	0.44482	1.25;0.92;1.31	5.19	4.18	0.49190	.	0.130642	0.49305	D	0.000147	T	0.62085	0.2399	M	0.72894	2.215	0.80722	D	1	D;D;D	0.71674	0.995;0.995;0.998	D;D;D	0.78314	0.963;0.963;0.991	T	0.65738	-0.6095	10	0.62326	D	0.03	-17.958	14.0089	0.64483	0.0:0.0:0.8381:0.1619	.	60;60;60	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	M	60	ENSP00000389436:I60M;ENSP00000257118:I60M;ENSP00000391440:I60M	ENSP00000257118:I60M	I	-	3	3	PHC2	33610630	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.528000	0.35985	2.397000	0.81536	0.655000	0.94253	ATC	PHC2	-	NULL		0.637	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	G	NM_198040		33838043	-1	no_errors	ENST00000419414	ensembl	human	known	70_37	missense	SNP	1.000	C
PHEX	5251	genome.wustl.edu	37	X	22115103	22115103	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:22115103G>A	ENST00000379374.4	+	8	1445	c.880G>A	c.(880-882)Gag>Aag	p.E294K	PHEX_ENST00000535894.1_Missense_Mutation_p.E197K|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000418858.3_5'Flank|PHEX_ENST00000537599.1_Missense_Mutation_p.E294K	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	294					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CCGAACCAGCGAGGCCATGTA	0.348																																																	0													156.0	130.0	139.0					X																	22115103		2203	4300	6503	SO:0001583	missense	5251			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.880G>A	X.37:g.22115103G>A	ENSP00000368682:p.Glu294Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.E294K	ENST00000379374.4	37	c.880	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350585	0.61183	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	T;T;T	0.73789	-0.78;-0.78;-0.78	5.2	5.2	0.72013	Peptidase M13 (1);	0.092802	0.64402	D	0.000001	D	0.82870	0.5131	M	0.75615	2.305	0.80722	D	1	D;D	0.63880	0.991;0.993	P;P	0.57846	0.736;0.828	T	0.80569	-0.1324	10	0.21540	T	0.41	.	18.0784	0.89435	0.0:0.0:1.0:0.0	.	294;294	F5GXU4;P78562	.;PHEX_HUMAN	K	294;294;197	ENSP00000368682:E294K;ENSP00000440362:E294K;ENSP00000439418:E197K	ENSP00000368682:E294K	E	+	1	0	PHEX	22025024	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.881000	0.87252	2.293000	0.77203	0.436000	0.28706	GAG	PHEX	-	pfam_Peptidase_M13_N		0.348	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	HGNC	protein_coding	OTTHUMT00000056035.1	G	NM_000444		22115103	+1	no_errors	ENST00000379374	ensembl	human	known	70_37	missense	SNP	1.000	A
PHF12	57649	genome.wustl.edu	37	17	27240257	27240257	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:27240257C>T	ENST00000332830.4	-	9	2142	c.1332G>A	c.(1330-1332)ttG>ttA	p.L444L	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Silent_p.L444L|PHF12_ENST00000268756.3_Silent_p.L444L	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ATAAATGTTTCAATATGCTGC	0.517																																																	0													110.0	107.0	108.0					17																	27240257		2203	4300	6503	SO:0001819	synonymous_variant	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1332G>A	17.37:g.27240257C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.L444	ENST00000332830.4	37	c.1332	CCDS32598.1	17																																																																																			PHF12	-	NULL		0.517	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	C	NM_020889		27240257	-1	no_errors	ENST00000332830	ensembl	human	known	70_37	silent	SNP	1.000	T
PHF14	9678	genome.wustl.edu	37	7	11101423	11101423	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:11101423C>T	ENST00000403050.3	+	15	2939	c.2487C>T	c.(2485-2487)acC>acT	p.T829T	PHF14_ENST00000445996.2_Silent_p.T544T	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	829					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		tCCAGAGAACCAGAGGACGAA	0.284																																																	0													45.0	45.0	45.0					7																	11101423		1771	4010	5781	SO:0001819	synonymous_variant	9678			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.2487C>T	7.37:g.11101423C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MCZ3|B4DI82	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.T829	ENST00000403050.3	37	c.2487	CCDS47542.1	7																																																																																			PHF14	-	NULL		0.284	PHF14-001	KNOWN	basic|CCDS	protein_coding	PHF14	HGNC	protein_coding	OTTHUMT00000318212.1	C	NM_014660		11101423	+1	no_errors	ENST00000403050	ensembl	human	known	70_37	silent	SNP	1.000	T
JADE1	79960	genome.wustl.edu	37	4	129773220	129773220	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:129773220G>A	ENST00000226319.6	+	6	773	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	PHF17_ENST00000512960.1_Missense_Mutation_p.E165K|PHF17_ENST00000511647.1_Missense_Mutation_p.E165K|PHF17_ENST00000452328.2_Missense_Mutation_p.E153K|PHF17_ENST00000413543.2_Missense_Mutation_p.E165K	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGGAATGCCTGAACTAGATGA	0.348																																																	0													81.0	76.0	78.0					4																	129773220		2203	4300	6503	SO:0001583	missense	79960																														ENST00000226319.6:c.493G>A	4.37:g.129773220G>A	ENSP00000226319:p.Glu165Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E165K	ENST00000226319.6	37	c.493	CCDS34062.1	4	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934370	0.34096	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.38	5.38	0.77491	Enhancer of polycomb-like, N-terminal (1);	0.238306	0.42964	D	0.000629	T	0.45955	0.1368	L	0.41492	1.28	0.42234	D	0.9919	B;P;B	0.52316	0.109;0.952;0.014	B;P;B	0.51945	0.059;0.685;0.012	T	0.20773	-1.0265	9	.	.	.	.	14.8833	0.70550	0.0:0.1428:0.8572:0.0	.	153;165;165	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	K	165;165;153;165;165;165	ENSP00000226319:E165K;ENSP00000423737:E165K;ENSP00000388015:E153K;ENSP00000425730:E165K;ENSP00000404211:E165K	.	E	+	1	0	PHF17	129992670	0.961000	0.32948	0.288000	0.24862	0.466000	0.32739	3.384000	0.52478	2.793000	0.96121	0.655000	0.94253	GAA	PHF17	-	pfam_Enhancer_polycomb-like_N		0.348	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364280.1	G			129773220	+1	no_errors	ENST00000226319	ensembl	human	known	70_37	missense	SNP	0.801	A
PHF20L1	51105	genome.wustl.edu	37	8	133858144	133858144	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:133858144G>A	ENST00000395386.2	+	21	3329	c.3030G>A	c.(3028-3030)caG>caA	p.Q1010Q	PHF20L1_ENST00000220847.7_Silent_p.Q397Q|PHF20L1_ENST00000395390.2_Silent_p.Q985Q|AF230666.2_ENST00000429151.1_RNA|AF230666.2_ENST00000608375.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	1010							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AAGTACAGCAGATAGCAACTC	0.423																																																	0													86.0	78.0	80.0					8																	133858144		1907	4126	6033	SO:0001819	synonymous_variant	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.3030G>A	8.37:g.133858144G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD	p.Q397	ENST00000395386.2	37	c.1191	CCDS6367.2	8																																																																																			PHF20L1	-	NULL		0.423	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	HGNC	protein_coding	OTTHUMT00000308949.3	G	NM_016018		133858144	+1	no_errors	ENST00000220847	ensembl	human	known	70_37	silent	SNP	0.965	A
PHF21B	112885	genome.wustl.edu	37	22	45309894	45309894	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:45309894G>C	ENST00000313237.5	-	5	789	c.639C>G	c.(637-639)ctC>ctG	p.L213L	PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000396103.3_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	213							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		agggaggggtgaggggaagag	0.642																																																	0													27.0	27.0	27.0					22																	45309894		2200	4297	6497	SO:0001819	synonymous_variant	112885			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.639C>G	22.37:g.45309894G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L213	ENST00000313237.5	37	c.639	CCDS14061.1	22																																																																																			PHF21B	-	NULL		0.642	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	HGNC	protein_coding	OTTHUMT00000321731.2	G	NM_138415		45309894	-1	no_errors	ENST00000313237	ensembl	human	known	70_37	silent	SNP	0.000	C
PHF3	23469	genome.wustl.edu	37	6	64394152	64394152	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:64394152G>C	ENST00000262043.3	+	4	869	c.529G>C	c.(529-531)Gaa>Caa	p.E177Q	PHF3_ENST00000393387.1_Missense_Mutation_p.E177Q|PHF3_ENST00000509330.1_Missense_Mutation_p.E177Q			Q92576	PHF3_HUMAN	PHD finger protein 3	177					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAAACAACCAGAAAGGAGTCA	0.418																																					GBM(135;136 1820 29512 34071 46235)												0													182.0	182.0	182.0					6																	64394152		2203	4300	6503	SO:0001583	missense	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.529G>C	6.37:g.64394152G>C	ENSP00000262043:p.Glu177Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.E177Q	ENST00000262043.3	37	c.529	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322966	0.23994	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T	0.50548	1.71;2.07;1.73;0.74;2.07	5.92	5.92	0.95590	.	0.508381	0.15703	N	0.248844	T	0.61476	0.2350	L	0.60455	1.87	0.49299	D	0.999771	D;D	0.76494	0.993;0.999	P;D	0.65443	0.782;0.935	T	0.61297	-0.7091	10	0.72032	D	0.01	-28.1845	20.3172	0.98658	0.0:0.0:1.0:0.0	.	177;177	Q92576;D6R9X2	PHF3_HUMAN;.	Q	89;177;130;177;177	ENSP00000425227:E89Q;ENSP00000262043:E177Q;ENSP00000424078:E130Q;ENSP00000422841:E177Q;ENSP00000377048:E177Q	ENSP00000262043:E177Q	E	+	1	0	PHF3	64452111	1.000000	0.71417	0.986000	0.45419	0.077000	0.17291	4.899000	0.63245	2.801000	0.96364	0.650000	0.86243	GAA	PHF3	-	NULL		0.418	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	G			64394152	+1	no_errors	ENST00000262043	ensembl	human	known	70_37	missense	SNP	0.993	C
PHKB	5257	genome.wustl.edu	37	16	47621660	47621660	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:47621660G>T	ENST00000323584.5	+	9	880	c.856G>T	c.(856-858)Gaa>Taa	p.E286*	PHKB_ENST00000566044.1_Nonsense_Mutation_p.E279*|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000299167.8_Nonsense_Mutation_p.E286*|PHKB_ENST00000455779.1_Nonsense_Mutation_p.E279*	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	286					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTTACCCAGAGAATCAAGATC	0.353																																																	0													82.0	79.0	80.0					16																	47621660		2201	4300	6501	SO:0001587	stop_gained	5257				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.856G>T	16.37:g.47621660G>T	ENSP00000313504:p.Glu286*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N4T5	Nonsense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.E286*	ENST00000323584.5	37	c.856	CCDS10729.1	16	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610967	0.87258	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.7211	19.9981	0.97395	0.0:0.0:1.0:0.0	.	.	.	.	X	279;279;286	.	ENSP00000299167:E279X	E	+	1	0	PHKB	46179161	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.910000	0.87451	2.729000	0.93468	0.655000	0.94253	GAA	PHKB	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.353	PHKB-002	KNOWN	basic|CCDS	protein_coding	PHKB	HGNC	protein_coding	OTTHUMT00000430413.1	G			47621660	+1	no_errors	ENST00000299167	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PHRF1	57661	genome.wustl.edu	37	11	591399	591399	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:591399C>G	ENST00000264555.5	+	5	564	c.436C>G	c.(436-438)Cca>Gca	p.P146A	PHRF1_ENST00000416188.2_Missense_Mutation_p.P146A|PHRF1_ENST00000413872.2_Missense_Mutation_p.P145A|PHRF1_ENST00000533464.1_Missense_Mutation_p.P142A	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	146					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAATTCCTGTCCAGTTGATCG	0.388																																																	0													131.0	124.0	126.0					11																	591399		1917	4124	6041	SO:0001583	missense	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.436C>G	11.37:g.591399C>G	ENSP00000264555:p.Pro146Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P146A	ENST00000264555.5	37	c.436		11	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705138	0.68615	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	4.15	4.15	0.48705	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.34676	U	0.003763	D	0.97920	0.9316	H	0.94222	3.51	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.99153	1.0859	10	0.87932	D	0	-11.475	15.3666	0.74526	0.0:1.0:0.0:0.0	.	142;145;146;146	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	A	146;145;146;142	ENSP00000264555:P146A;ENSP00000388589:P145A;ENSP00000410626:P146A;ENSP00000431870:P142A	ENSP00000264555:P146A	P	+	1	0	PHRF1	581399	1.000000	0.71417	0.975000	0.42487	0.670000	0.39368	6.368000	0.73104	2.155000	0.67459	0.501000	0.49751	CCA	PHRF1	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.388	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	C	NM_020901		591399	+1	no_errors	ENST00000264555	ensembl	human	known	70_37	missense	SNP	1.000	G
PIEZO1	9780	genome.wustl.edu	37	16	88801568	88801568	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:88801568C>T	ENST00000301015.9	-	13	1890	c.1644G>A	c.(1642-1644)ctG>ctA	p.L548L	RP5-1142A6.2_ENST00000440406.2_RNA|RP5-1142A6.2_ENST00000567968.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	548					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						TGACCTCCGTCAGCGCAGCTG	0.642																																																	0													40.0	43.0	42.0					16																	88801568		692	1589	2281	SO:0001819	synonymous_variant	9780			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.1644G>A	16.37:g.88801568C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHT9|A7E2B7|Q0KKZ9	Silent	SNP	pfam_DUF3595	p.L548	ENST00000301015.9	37	c.1644	CCDS54058.1	16	.	.	.	.	.	.	.	.	.	.	C	4.219	0.039460	0.08148	.	.	ENSG00000103335	ENST00000451779	.	.	.	4.13	-2.83	0.05769	.	.	.	.	.	T	0.41696	0.1170	.	.	.	0.48288	D	0.999629	.	.	.	.	.	.	T	0.31081	-0.9956	4	.	.	.	-13.9728	3.3591	0.07179	0.1985:0.4721:0.1912:0.1382	.	.	.	.	N	494	.	.	D	-	1	0	FAM38A	87329069	0.059000	0.20769	0.000000	0.03702	0.001000	0.01503	0.469000	0.22067	-0.629000	0.05575	-1.786000	0.00637	GAC	PIEZO1	-	NULL		0.642	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	PIEZO1	HGNC	protein_coding	OTTHUMT00000345699.4	C	NM_014745		88801568	-1	no_errors	ENST00000301015	ensembl	human	novel	70_37	silent	SNP	0.016	T
PIGH	5283	genome.wustl.edu	37	14	68066806	68066806	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:68066806G>A	ENST00000216452.4	-	1	198	c.115C>T	c.(115-117)Cgt>Tgt	p.R39C	PIGH_ENST00000559581.1_Missense_Mutation_p.R39C|PIGH_ENST00000560722.1_Missense_Mutation_p.R39C	NM_004569.3	NP_004560.1	Q14442	PIGH_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class H	39					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4				all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)		GTGAGCGAACGCAGCGAGAGC	0.677											OREG0022750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14.0	15.0	15.0					14																	68066806		2180	4281	6461	SO:0001583	missense	5283				CCDS9784.1	14q24.1	2013-02-26	2006-06-28		ENSG00000100564	ENSG00000100564	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8964	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase subunit"""	600154	"""phosphatidylinositol glycan, class H"""			8204896	Standard	NM_004569		Approved	GPI-H	uc001xjr.1	Q14442	OTTHUMG00000171806	ENST00000216452.4:c.115C>T	14.37:g.68066806G>A	ENSP00000216452:p.Arg39Cys	Somatic	1104	WXS	Illumina HiSeq	Phase_IV	B2RAA4	Missense_Mutation	SNP	pfam_GPI-GlcNAc_Trfase_PIG-H_dom	p.R39C	ENST00000216452.4	37	c.115	CCDS9784.1	14	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009171	0.54361	.	.	ENSG00000100564	ENST00000216452	.	.	.	4.74	3.84	0.44239	.	0.185257	0.47852	N	0.000204	T	0.43875	0.1267	L	0.27053	0.805	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.35475	-0.9787	9	0.49607	T	0.09	-13.7155	12.1233	0.53903	0.0839:0.0:0.9161:0.0	.	39;39	B4DEE2;Q14442	.;PIGH_HUMAN	C	39	.	ENSP00000216452:R39C	R	-	1	0	PIGH	67136559	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.102000	0.50291	1.188000	0.43014	0.462000	0.41574	CGT	PIGH	-	NULL		0.677	PIGH-001	KNOWN	basic|CCDS	protein_coding	PIGH	HGNC	protein_coding	OTTHUMT00000415189.2	G	NM_004569		68066806	-1	no_errors	ENST00000216452	ensembl	human	known	70_37	missense	SNP	1.000	A
PIGK	10026	genome.wustl.edu	37	1	77627295	77627295	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:77627295C>G	ENST00000370812.3	-	7	709	c.686G>C	c.(685-687)gGa>gCa	p.G229A	PIGK_ENST00000359130.1_Missense_Mutation_p.G229A|PIGK_ENST00000445065.1_Missense_Mutation_p.G135A|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000370813.5_Missense_Mutation_p.G153A	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	229					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TGAATCTTCTCCCACTTGACT	0.363																																																	0													113.0	101.0	105.0					1																	77627295		2203	4300	6503	SO:0001583	missense	10026			AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.686G>C	1.37:g.77627295C>G	ENSP00000359848:p.Gly229Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	pfam_Peptidase_C13,prints_Peptidase_C13	p.G229A	ENST00000370812.3	37	c.686	CCDS674.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247512	0.80024	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	T;T;T;T	0.48836	0.8;0.81;0.8;0.82	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	M	0.90870	3.155	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.975;0.975	D;D;P;P	0.75484	0.986;0.98;0.908;0.908	T	0.75288	-0.3370	10	0.44086	T	0.13	-13.5961	17.6359	0.88122	0.0:1.0:0.0:0.0	.	153;135;229;229	B4E2M3;B1AK81;A6NEM5;Q92643	.;.;.;GPI8_HUMAN	A	229;135;153;229	ENSP00000359848:G229A;ENSP00000388854:G135A;ENSP00000359849:G153A;ENSP00000352041:G229A	ENSP00000352041:G229A	G	-	2	0	PIGK	77399883	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.273000	0.78527	2.454000	0.82982	0.650000	0.86243	GGA	PIGK	-	pfam_Peptidase_C13		0.363	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGK	HGNC	protein_coding	OTTHUMT00000026687.1	C	NM_005482		77627295	-1	no_errors	ENST00000370812	ensembl	human	known	70_37	missense	SNP	1.000	G
PIGQ	9091	genome.wustl.edu	37	16	624234	624234	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:624234C>T	ENST00000026218.5	+	2	248	c.160C>T	c.(160-162)Cag>Tag	p.Q54*	PIGQ_ENST00000470411.2_Nonsense_Mutation_p.Q54*|PIGQ_ENST00000409527.2_Nonsense_Mutation_p.Q54*|PIGQ_ENST00000321878.5_Nonsense_Mutation_p.Q54*	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	54					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CCAGGTGCGGCAGGCCAGCCA	0.711																																																	0													43.0	35.0	38.0					16																	624234		2195	4298	6493	SO:0001587	stop_gained	9091			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.160C>T	16.37:g.624234C>T	ENSP00000026218:p.Gln54*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Nonsense_Mutation	SNP	pfam_GlcNAc_Gpi1	p.Q54*	ENST00000026218.5	37	c.160	CCDS10411.1	16	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910816	0.52439	.	.	ENSG00000007541	ENST00000293874;ENST00000409527;ENST00000409439;ENST00000422307;ENST00000321878;ENST00000439574;ENST00000026218;ENST00000470411	.	.	.	5.21	2.96	0.34315	.	0.758893	0.13353	N	0.394273	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-32.0489	14.3335	0.66574	0.2886:0.7114:0.0:0.0	.	.	.	.	X	54	.	ENSP00000026218:Q54X	Q	+	1	0	PIGQ	564235	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.365000	0.34182	1.120000	0.41904	0.511000	0.50034	CAG	PIGQ	-	NULL		0.711	PIGQ-002	KNOWN	basic|CCDS	protein_coding	PIGQ	HGNC	protein_coding	OTTHUMT00000239270.2	C	NM_004204		624234	+1	no_errors	ENST00000026218	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PIGZ	80235	genome.wustl.edu	37	3	196674919	196674919	+	Silent	SNP	G	G	T	rs553144653		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:196674919G>T	ENST00000412723.1	-	3	995	c.849C>A	c.(847-849)ccC>ccA	p.P283P		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	283					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TGGATGTAGCGGGGCTGGAGA	0.602																																																	0													98.0	104.0	102.0					3																	196674919		2203	4300	6503	SO:0001819	synonymous_variant	80235			BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.849C>A	3.37:g.196674919G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9G6	Silent	SNP	pfam_GPI_mannosylTrfase	p.P283	ENST00000412723.1	37	c.849	CCDS3324.1	3																																																																																			PIGZ	-	pfam_GPI_mannosylTrfase		0.602	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGZ	HGNC	protein_coding	OTTHUMT00000340486.2	G	NM_025163		196674919	-1	no_errors	ENST00000412723	ensembl	human	known	70_37	silent	SNP	0.000	T
PIK3CG	5294	genome.wustl.edu	37	7	106508780	106508780	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:106508780G>C	ENST00000359195.3	+	2	1084	c.774G>C	c.(772-774)ctG>ctC	p.L258L	PIK3CG_ENST00000496166.1_Silent_p.L258L|PIK3CG_ENST00000440650.2_Silent_p.L258L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	258	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGAAATCTCTGATGGATATTC	0.557																																																	0													68.0	69.0	68.0					7																	106508780		2203	4300	6503	SO:0001819	synonymous_variant	5294				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.774G>C	7.37:g.106508780G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.L258	ENST00000359195.3	37	c.774	CCDS5739.1	7																																																																																			PIK3CG	-	pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom		0.557	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIK3CG	HGNC	protein_coding	OTTHUMT00000349294.1	G			106508780	+1	no_errors	ENST00000359195	ensembl	human	known	70_37	silent	SNP	0.987	C
PIK3R1	5295	genome.wustl.edu	37	5	67522828	67522828	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:67522828G>A	ENST00000521381.1	+	2	941	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	PIK3R1_ENST00000274335.5_Missense_Mutation_p.E109K|PIK3R1_ENST00000521657.1_Missense_Mutation_p.E109K|PIK3R1_ENST00000396611.1_Missense_Mutation_p.E109K	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	109					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AGCAGATGTTGAACAACAAGG	0.433			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	1	Whole gene deletion(1)	large_intestine(1)											50.0	59.0	56.0					5																	67522828		2202	4299	6501	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.325G>A	5.37:g.67522828G>A	ENSP00000428056:p.Glu109Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.E109K	ENST00000521381.1	37	c.325	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584155	0.46110	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335	T;T;T;T	0.68903	-0.36;-0.36;-0.24;-0.36	5.77	5.77	0.91146	.	0.116735	0.56097	D	0.000027	T	0.58032	0.2094	L	0.44542	1.39	0.80722	D	1	B	0.26935	0.164	B	0.24006	0.05	T	0.56571	-0.7957	10	0.05525	T	0.97	-24.2655	20.3473	0.98799	0.0:0.0:1.0:0.0	.	109	P27986	P85A_HUMAN	K	109	ENSP00000428056:E109K;ENSP00000429277:E109K;ENSP00000379855:E109K;ENSP00000274335:E109K	ENSP00000274335:E109K	E	+	1	0	PIK3R1	67558584	1.000000	0.71417	0.955000	0.39395	0.760000	0.43138	9.238000	0.95380	2.884000	0.98904	0.655000	0.94253	GAA	PIK3R1	-	NULL		0.433	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	G	NM_181504		67522828	+1	no_errors	ENST00000396611	ensembl	human	known	70_37	missense	SNP	1.000	A
PIK3R1	5295	genome.wustl.edu	37	5	67589548	67589548	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:67589548C>G	ENST00000521381.1	+	11	1927	c.1311C>G	c.(1309-1311)gtC>gtG	p.V437V	PIK3R1_ENST00000274335.5_Silent_p.V437V|PIK3R1_ENST00000521657.1_Silent_p.V437V|PIK3R1_ENST00000396611.1_Silent_p.V437V|PIK3R1_ENST00000523872.1_Silent_p.V74V|PIK3R1_ENST00000336483.5_Silent_p.V167V|PIK3R1_ENST00000320694.8_Silent_p.V137V	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	437					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	ATCAAGTTGTCAAAGAAGATA	0.249			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)											38.0	42.0	41.0					5																	67589548		2179	4266	6445	SO:0001819	synonymous_variant	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1311C>G	5.37:g.67589548C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Silent	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.V437	ENST00000521381.1	37	c.1311	CCDS3993.1	5																																																																																			PIK3R1	-	superfamily_Guanylate-bd_C,prints_PI3kinase_P85		0.249	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	C	NM_181504		67589548	+1	no_errors	ENST00000396611	ensembl	human	known	70_37	silent	SNP	1.000	G
PITX2	5308	genome.wustl.edu	37	4	111553603	111553603	+	Missense_Mutation	SNP	G	G	T	rs201299310		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:111553603G>T	ENST00000354925.2	-	5	1785	c.80C>A	c.(79-81)tCc>tAc	p.S27Y	PITX2_ENST00000394598.2_Missense_Mutation_p.S27Y|PITX2_ENST00000394595.3_Missense_Mutation_p.S27Y|PITX2_ENST00000355080.5_Intron	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	27					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GGAGTCTTTGGAGAAGAGACA	0.662																																																	0													56.0	68.0	64.0					4																	111553603		2203	4300	6503	SO:0001583	missense	5308			U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.80C>A	4.37:g.111553603G>T	ENSP00000347004:p.Ser27Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain	p.S27Y	ENST00000354925.2	37	c.80	CCDS3692.1	4	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388299	0.61956	.	.	ENSG00000164093	ENST00000394598;ENST00000354925;ENST00000394595;ENST00000511837	D;D;D	0.93133	-2.95;-2.95;-3.17	4.83	4.83	0.62350	.	.	.	.	.	D	0.93759	0.8005	N	0.19112	0.55	0.31283	N	0.690336	D	0.55605	0.972	D	0.69142	0.962	D	0.92787	0.6245	9	0.59425	D	0.04	.	17.7465	0.88422	0.0:0.0:1.0:0.0	.	27	Q99697	PITX2_HUMAN	Y	27	ENSP00000378097:S27Y;ENSP00000347004:S27Y;ENSP00000421454:S27Y	ENSP00000347004:S27Y	S	-	2	0	PITX2	111773052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.910000	0.56371	2.504000	0.84457	0.650000	0.86243	TCC	PITX2	-	pirsf_Homeobox_Pitx/unc30		0.662	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PITX2	HGNC	protein_coding	OTTHUMT00000256308.2	G			111553603	-1	no_errors	ENST00000354925	ensembl	human	known	70_37	missense	SNP	1.000	T
PIWIL3	440822	genome.wustl.edu	37	22	25150144	25150144	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:25150144G>A	ENST00000332271.5	-	8	1230	c.814C>T	c.(814-816)Ctt>Ttt	p.L272F	PIWIL3_ENST00000533313.1_Missense_Mutation_p.L163F|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.L163F	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	272					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCGTATTGAAGAACAGAAGTA	0.408																																																	0													94.0	90.0	91.0					22																	25150144		2203	4300	6503	SO:0001583	missense	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.814C>T	22.37:g.25150144G>A	ENSP00000330031:p.Leu272Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.L272F	ENST00000332271.5	37	c.814	CCDS33623.1	22	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856476	0.32791	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.10192	2.9;2.9;2.9	2.42	1.38	0.22167	Argonaute/Dicer protein, PAZ (1);	0.080886	0.50627	N	0.000118	T	0.27933	0.0688	M	0.79123	2.44	0.47737	D	0.999508	D;P;D	0.89917	1.0;0.481;0.999	D;B;D	0.91635	0.999;0.119;0.985	T	0.01630	-1.1308	10	0.72032	D	0.01	-10.9471	7.3203	0.26523	0.1446:0.0:0.8554:0.0	.	163;272;272	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	F	272;163;163	ENSP00000330031:L272F;ENSP00000431843:L163F;ENSP00000435718:L163F	ENSP00000330031:L272F	L	-	1	0	PIWIL3	23480144	1.000000	0.71417	0.238000	0.24106	0.324000	0.28378	2.165000	0.42396	0.587000	0.29643	0.462000	0.41574	CTT	PIWIL3	-	superfamily_PAZ		0.408	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	HGNC	protein_coding	OTTHUMT00000320084.2	G	NM_001008496		25150144	-1	no_errors	ENST00000332271	ensembl	human	known	70_37	missense	SNP	0.999	A
PJA2	9867	genome.wustl.edu	37	5	108698712	108698712	+	Missense_Mutation	SNP	G	G	A	rs149837114		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:108698712G>A	ENST00000361189.2	-	6	1720	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F	PJA2_ENST00000361557.3_Missense_Mutation_p.S494F	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	494					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		CTCTTCCAAGGATGTCTGTTC	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		18462	0.0		0.0	False		,,,				2504	0.001																0								G	PHE/SER	3,4401	6.2+/-15.9	0,3,2199	132.0	134.0	133.0		1481	5.2	1.0	5	dbSNP_134	133	4,8596	2.2+/-6.3	0,4,4296	yes	missense	PJA2	NM_014819.4	155	0,7,6495	AA,AG,GG		0.0465,0.0681,0.0538	benign	494/709	108698712	7,12997	2202	4300	6502	SO:0001583	missense	9867			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.1481C>T	5.37:g.108698712G>A	ENSP00000354775:p.Ser494Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S494F	ENST00000361189.2	37	c.1481	CCDS4099.1	5	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405663	0.62288	6.81E-4	4.65E-4	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.05925	3.37;3.37	5.15	5.15	0.70609	.	0.082586	0.52532	D	0.000070	T	0.09291	0.0229	L	0.53249	1.67	0.42735	D	0.993724	P	0.37122	0.583	B	0.40165	0.321	T	0.17379	-1.0371	10	0.27082	T	0.32	-10.2244	12.5887	0.56432	0.0858:0.0:0.9142:0.0	.	494	O43164	PJA2_HUMAN	F	494	ENSP00000354775:S494F;ENSP00000355284:S494F	ENSP00000354775:S494F	S	-	2	0	PJA2	108726611	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.615000	0.54167	2.694000	0.91930	0.467000	0.42956	TCC	PJA2	-	NULL		0.363	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PJA2	HGNC	protein_coding	OTTHUMT00000250663.1	G	NM_014819		108698712	-1	no_errors	ENST00000361189	ensembl	human	known	70_37	missense	SNP	0.996	A
PJA2	9867	genome.wustl.edu	37	5	108698717	108698717	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:108698717C>G	ENST00000361189.2	-	6	1715	c.1476G>C	c.(1474-1476)caG>caC	p.Q492H	PJA2_ENST00000361557.3_Missense_Mutation_p.Q492H	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	492					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		CCAAGGATGTCTGTTCCCTAG	0.358																																																	0													122.0	124.0	123.0					5																	108698717		2202	4300	6502	SO:0001583	missense	9867			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.1476G>C	5.37:g.108698717C>G	ENSP00000354775:p.Gln492His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q492H	ENST00000361189.2	37	c.1476	CCDS4099.1	5	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770984	0.31320	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.07216	3.21;3.21	5.15	1.33	0.21861	.	0.084010	0.50627	N	0.000101	T	0.06962	0.0177	L	0.52126	1.63	0.45690	D	0.998604	B	0.12630	0.006	B	0.17979	0.02	T	0.29731	-1.0002	10	0.45353	T	0.12	-1.5325	2.1545	0.03809	0.1255:0.481:0.1219:0.2717	rs34807577	492	O43164	PJA2_HUMAN	H	492	ENSP00000354775:Q492H;ENSP00000355284:Q492H	ENSP00000354775:Q492H	Q	-	3	2	PJA2	108726616	0.986000	0.35501	0.998000	0.56505	0.972000	0.66771	0.112000	0.15479	0.061000	0.16311	0.467000	0.42956	CAG	PJA2	-	NULL		0.358	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PJA2	HGNC	protein_coding	OTTHUMT00000250663.1	C	NM_014819		108698717	-1	no_errors	ENST00000361189	ensembl	human	known	70_37	missense	SNP	0.999	G
PKD1	5310	genome.wustl.edu	37	16	2161292	2161292	+	Silent	SNP	G	G	A	rs569009244		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2161292G>A	ENST00000262304.4	-	15	4084	c.3876C>T	c.(3874-3876)ttC>ttT	p.F1292F	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.F1292F	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1292	PKD 7. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCTCCAGGACGAAGACCAGCA	0.701																																																	0													14.0	16.0	15.0					16																	2161292		2173	4276	6449	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3876C>T	16.37:g.2161292G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.F1292	ENST00000262304.4	37	c.3876	CCDS32369.1	16																																																																																			PKD1	-	superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat		0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2161292	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	0.975	A
PKHD1	5314	genome.wustl.edu	37	6	51890945	51890945	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:51890945G>C	ENST00000371117.3	-	32	3938	c.3663C>G	c.(3661-3663)ttC>ttG	p.F1221L	PKHD1_ENST00000340994.4_Missense_Mutation_p.F1221L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1221	IPT/TIG 7.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGTCCCTGCTGAAGCCTATTC	0.473																																																	0													62.0	64.0	63.0					6																	51890945		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3663C>G	6.37:g.51890945G>C	ENSP00000360158:p.Phe1221Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.F1221L	ENST00000371117.3	37	c.3663	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	9.155	1.017158	0.19355	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.83837	-1.77;-1.77	5.87	0.622	0.17648	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.357674	0.30667	N	0.009125	T	0.49762	0.1576	L	0.33293	1	0.09310	N	1	B;B	0.20550	0.037;0.046	B;B	0.26094	0.039;0.066	T	0.46965	-0.9153	10	0.44086	T	0.13	.	1.2141	0.01910	0.3417:0.1324:0.3766:0.1493	.	1221;1221	P08F94-2;P08F94	.;PKHD1_HUMAN	L	1221	ENSP00000360158:F1221L;ENSP00000341097:F1221L	ENSP00000341097:F1221L	F	-	3	2	PKHD1	51998904	0.982000	0.34865	0.002000	0.10522	0.360000	0.29518	0.220000	0.17660	-0.177000	0.10690	-0.345000	0.07892	TTC	PKHD1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51890945	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	missense	SNP	0.168	C
PKHD1	5314	genome.wustl.edu	37	6	51921587	51921587	+	Splice_Site	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:51921587C>G	ENST00000371117.3	-	18	1878		c.e18-1		PKHD1_ENST00000340994.4_Splice_Site	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTGTTTGAATCTATTACAAAG	0.438																																																	0													83.0	89.0	87.0					6																	51921587		2203	4300	6503	SO:0001630	splice_region_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1603-1G>C	6.37:g.51921587C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Splice_Site	SNP	-	e17-1	ENST00000371117.3	37	c.1603-1	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727649	0.48833	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0884	0.42432	0.0:0.9074:0.0:0.0926	.	.	.	.	.	-1	.	.	.	-	.	.	PKHD1	52029546	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	2.890000	0.48609	2.473000	0.83533	0.462000	0.41574	.	PKHD1	-	-		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	C	NM_138694	Intron	51921587	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	splice_site	SNP	1.000	G
PKHD1L1	93035	genome.wustl.edu	37	8	110478968	110478968	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:110478968G>C	ENST00000378402.5	+	50	8679	c.8575G>C	c.(8575-8577)Gaa>Caa	p.E2859Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2859					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATCTCTGCTTGAAAAGGATGT	0.393										HNSCC(38;0.096)																																							0													132.0	120.0	123.0					8																	110478968		1897	4118	6015	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8575G>C	8.37:g.110478968G>C	ENSP00000367655:p.Glu2859Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.E2859Q	ENST00000378402.5	37	c.8575	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628165	0.66901	.	.	ENSG00000205038	ENST00000378402	D	0.85484	-1.99	6.16	6.16	0.99307	.	0.207483	0.40222	N	0.001145	D	0.83271	0.5218	L	0.36672	1.1	0.25321	N	0.989112	P	0.50617	0.937	P	0.48488	0.579	T	0.74203	-0.3741	10	0.16896	T	0.51	.	18.3537	0.90348	0.0:0.0:1.0:0.0	.	2859	Q86WI1	PKHL1_HUMAN	Q	2859	ENSP00000367655:E2859Q	ENSP00000367655:E2859Q	E	+	1	0	PKHD1L1	110548144	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.300000	0.72776	2.937000	0.99478	0.650000	0.86243	GAA	PKHD1L1	-	NULL		0.393	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110478968	+1	no_errors	ENST00000378402	ensembl	human	known	70_37	missense	SNP	1.000	C
PKLR	5313	genome.wustl.edu	37	1	155263012	155263012	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155263012G>C	ENST00000342741.4	-	9	1430	c.1392C>G	c.(1390-1392)ttC>ttG	p.F464L	PKLR_ENST00000392414.3_Missense_Mutation_p.F433L	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	464					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CACAGCACTTGAAGGCAGCCT	0.602																																																	0													91.0	79.0	83.0					1																	155263012		2203	4300	6503	SO:0001583	missense	5313			BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1392C>G	1.37:g.155263012G>C	ENSP00000339933:p.Phe464Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O75758|P11973	Missense_Mutation	SNP	pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.F464L	ENST00000342741.4	37	c.1392	CCDS1109.1	1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596590	0.66332	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.98987	-5.3;-5.3	4.54	4.54	0.55810	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.106409	0.64402	D	0.000004	D	0.96673	0.8914	L	0.32530	0.975	0.58432	D	0.999997	D;D	0.63046	0.992;0.992	P;P	0.55999	0.789;0.681	D	0.94429	0.7648	10	0.12103	T	0.63	-14.2989	8.6913	0.34269	0.102:0.0:0.898:0.0	.	464;455	P30613;B1AVT1	KPYR_HUMAN;.	L	489;433;464;378	ENSP00000376214:F433L;ENSP00000339933:F464L	ENSP00000271946:F378L	F	-	3	2	PKLR	153529636	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.754000	0.62191	2.530000	0.85305	0.561000	0.74099	TTC	PKLR	-	pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,tigrfam_Pyr_Knase		0.602	PKLR-001	KNOWN	basic|CCDS	protein_coding	PKLR	HGNC	protein_coding	OTTHUMT00000087407.2	G	NM_000298		155263012	-1	no_errors	ENST00000342741	ensembl	human	known	70_37	missense	SNP	1.000	C
PLA2G12B	84647	genome.wustl.edu	37	10	74695429	74695429	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:74695429C>T	ENST00000373032.3	-	4	626	c.534G>A	c.(532-534)atG>atA	p.M178I		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	178					cholesterol homeostasis (GO:0042632)|lipid catabolic process (GO:0016042)|triglyceride homeostasis (GO:0070328)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					GCTGACTATTCATAAAGGGGC	0.498																																																	0													106.0	96.0	99.0					10																	74695429		2203	4300	6503	SO:0001583	missense	84647			AF349540	CCDS7319.1	10q22.1	2008-09-19	2004-01-13	2004-01-14	ENSG00000138308	ENSG00000138308	3.1.1.4		18555	protein-coding gene	gene with protein product		611653	"""phospholipase A2, group XIII"""	PLA2G13			Standard	NM_032562		Approved		uc001jtf.1	Q9BX93	OTTHUMG00000018446	ENST00000373032.3:c.534G>A	10.37:g.74695429C>T	ENSP00000362123:p.Met178Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL23|Q52LB2|Q96Q99	Missense_Mutation	SNP	pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2	p.M178I	ENST00000373032.3	37	c.534	CCDS7319.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.408546	0.96051	.	.	ENSG00000138308	ENST00000373032	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.78342	0.4268	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.85130	0.997;0.992	T	0.77515	-0.2559	9	0.62326	D	0.03	-8.3682	20.4008	0.98991	0.0:1.0:0.0:0.0	.	177;178	B7ZL23;Q9BX93	.;PG12B_HUMAN	I	178	.	ENSP00000362123:M178I	M	-	3	0	PLA2G12B	74365435	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	ATG	PLA2G12B	-	pfam_PLipase_A2_secretory_G12		0.498	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G12B	HGNC	protein_coding	OTTHUMT00000048598.1	C	NM_032562		74695429	-1	no_errors	ENST00000373032	ensembl	human	known	70_37	missense	SNP	1.000	T
PLA2G2F	64600	genome.wustl.edu	37	1	20471149	20471149	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:20471149C>G	ENST00000375102.3	+	4	493	c.391C>G	c.(391-393)Cac>Gac	p.H131D		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	88					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCACTATGATCACACCATCGA	0.597																																																	0													120.0	94.0	103.0					1																	20471149		2203	4300	6503	SO:0001583	missense	64600			AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.391C>G	1.37:g.20471149C>G	ENSP00000364243:p.His131Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5R385|Q8N217|Q9H506	Missense_Mutation	SNP	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk	p.H131D	ENST00000375102.3	37	c.391	CCDS204.2	1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235471	0.22626	.	.	ENSG00000158786	ENST00000375102	T	0.26957	1.7	5.01	-0.717	0.11208	.	0.478562	0.19484	N	0.113146	T	0.23926	0.0579	L	0.54323	1.7	0.09310	N	1	P	0.47604	0.898	B	0.43867	0.434	T	0.14035	-1.0487	10	0.87932	D	0	-22.0458	8.4632	0.32940	0.0:0.4994:0.0:0.5006	.	131	Q9BZM2-2	.	D	131	ENSP00000364243:H131D	ENSP00000364243:H131D	H	+	1	0	PLA2G2F	20343736	0.002000	0.14202	0.086000	0.20670	0.002000	0.02628	0.044000	0.13992	-0.413000	0.07507	-0.302000	0.09304	CAC	PLA2G2F	-	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2		0.597	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G2F	HGNC	protein_coding	OTTHUMT00000007687.1	C	NM_022819		20471149	+1	no_errors	ENST00000375102	ensembl	human	known	70_37	missense	SNP	0.009	G
PLCB1	23236	genome.wustl.edu	37	20	8632317	8632317	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:8632317C>G	ENST00000338037.6	+	7	621				PLCB1_ENST00000378641.3_Intron|PLCB1_ENST00000378637.2_Intron	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)						activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ctcaaggtttcaaggacaata	0.413																																																	0																																										SO:0001627	intron_variant	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.594+2221C>G	20.37:g.8632317C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	RNA	SNP	-	NULL	ENST00000338037.6	37	NULL	CCDS13102.1	20																																																																																			PLCB1	-	-		0.413	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	C			8632317	+1	no_errors	ENST00000475958	ensembl	human	known	70_37	rna	SNP	0.002	G
PLCE1	51196	genome.wustl.edu	37	10	96064319	96064319	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:96064319G>C	ENST00000371380.3	+	24	5774	c.5539G>C	c.(5539-5541)Gac>Cac	p.D1847H	PLCE1_ENST00000260766.3_Missense_Mutation_p.D1847H|PLCE1_ENST00000371385.3_Missense_Mutation_p.D1539H|PLCE1_ENST00000371375.1_Missense_Mutation_p.D1539H			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1847					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTTCTGTGGGACAAGAACTG	0.418																																																	0													192.0	174.0	180.0					10																	96064319		1897	4112	6009	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5539G>C	10.37:g.96064319G>C	ENSP00000360431:p.Asp1847His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.D1847H	ENST00000371380.3	37	c.5539	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015132	0.93404	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.8	5.8	0.92144	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.76758	0.4032	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.79024	-0.1972	10	0.87932	D	0	.	19.6641	0.95886	0.0:0.0:1.0:0.0	.	1831;1539;1847	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	H	1847;1847;1539;1539	ENSP00000260766:D1847H;ENSP00000360431:D1847H;ENSP00000360438:D1539H;ENSP00000360426:D1539H	ENSP00000260766:D1847H	D	+	1	0	PLCE1	96054309	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.789000	0.99068	2.758000	0.94735	0.561000	0.74099	GAC	PLCE1	-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.418	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	G	NM_016341		96064319	+1	no_errors	ENST00000371380	ensembl	human	known	70_37	missense	SNP	1.000	C
PLCG2	5336	genome.wustl.edu	37	16	81973535	81973535	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:81973535G>C	ENST00000359376.3	+	30	3566	c.3352G>C	c.(3352-3354)Gag>Cag	p.E1118Q		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1118	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCCAACACAGGAGAAGGTGAC	0.468																																																	0													113.0	108.0	110.0					16																	81973535		1875	4121	5996	SO:0001583	missense	5336				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3352G>C	16.37:g.81973535G>C	ENSP00000352336:p.Glu1118Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	p.E1118Q	ENST00000359376.3	37	c.3352	CCDS42204.1	16	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715996	0.68844	.	.	ENSG00000197943	ENST00000359376	T	0.77098	-1.07	5.75	5.75	0.90469	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.091573	0.85682	D	0.000000	T	0.78515	0.4295	M	0.62209	1.925	0.58432	D	0.999999	B	0.31413	0.322	B	0.37550	0.253	T	0.76937	-0.2774	10	0.46703	T	0.11	.	15.4412	0.75184	0.0:0.1382:0.8618:0.0	.	1118	P16885	PLCG2_HUMAN	Q	1118	ENSP00000352336:E1118Q	ENSP00000352336:E1118Q	E	+	1	0	PLCG2	80531036	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.251000	0.78297	2.716000	0.92895	0.655000	0.94253	GAG	PLCG2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting		0.468	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1	G			81973535	+1	no_errors	ENST00000359376	ensembl	human	known	70_37	missense	SNP	1.000	C
PLCL2	23228	genome.wustl.edu	37	3	17053435	17053435	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:17053435G>A	ENST00000418129.2	+	2	2684	c.2219G>A	c.(2218-2220)gGa>gAa	p.G740E	PLCL2_ENST00000432376.1_Missense_Mutation_p.G740E|PLCL2_ENST00000396755.2_Missense_Mutation_p.G740E	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	866					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TCCTTAACTGGAGAGGTCCTT	0.483																																																	0													121.0	122.0	122.0					3																	17053435		2203	4300	6503	SO:0001583	missense	23228			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2219G>A	3.37:g.17053435G>A	ENSP00000409637:p.Gly740Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.G740E	ENST00000418129.2	37	c.2219	CCDS33713.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.417210|4.417210	0.83449|0.83449	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|T;T;T	.|0.15834	.|2.39;2.39;2.39	5.44|5.44	4.55|4.55	0.56014|0.56014	.|C2 calcium/lipid-binding domain, CaLB (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.43919|0.43919	0.1269|0.1269	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.79784	.|0.993	T|T	0.50021|0.50021	-0.8876|-0.8876	4|9	.|0.87932	.|D	.|0	.|.	15.7143|15.7143	0.77655|0.77655	0.0:0.0:0.862:0.138|0.0:0.0:0.862:0.138	.|.	.|866	.|Q9UPR0	.|PLCL2_HUMAN	K|E	484|740;867;740;740	.|ENSP00000409637:G740E;ENSP00000379979:G740E;ENSP00000412836:G740E	.|ENSP00000285094:G867E	E|G	+|+	1|2	0|0	PLCL2|PLCL2	17028439|17028439	1.000000|1.000000	0.71417|0.71417	0.736000|0.736000	0.30914|0.30914	0.964000|0.964000	0.63967|0.63967	9.807000|9.807000	0.99171|0.99171	1.395000|1.395000	0.46643|0.46643	0.491000|0.491000	0.48974|0.48974	GAG|GGA	PLCL2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.483	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	HGNC	protein_coding	OTTHUMT00000340250.3	G			17053435	+1	no_errors	ENST00000418129	ensembl	human	known	70_37	missense	SNP	0.999	A
PLCH1	23007	genome.wustl.edu	37	3	155203943	155203943	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:155203943G>C	ENST00000340059.7	-	21	2635	c.2636C>G	c.(2635-2637)gCt>gGt	p.A879G	PLCH1_ENST00000414191.1_Intron|PLCH1_ENST00000494598.1_Intron|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000460012.1_Intron|PLCH1_ENST00000334686.6_Intron|PLCH1_ENST00000447496.2_Missense_Mutation_p.A879G	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	879					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TACCTTTGTAGCTCCTAGAAA	0.393																																																	0													159.0	154.0	155.0					3																	155203943		692	1591	2283	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2636C>G	3.37:g.155203943G>C	ENSP00000345988:p.Ala879Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.A879G	ENST00000340059.7	37	c.2636	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245996	0.80024	.	.	ENSG00000114805	ENST00000447496;ENST00000340059	T;T	0.34072	1.38;1.68	5.38	5.38	0.77491	.	0.229535	0.44902	D	0.000406	T	0.40272	0.1110	M	0.62723	1.935	0.80722	D	1	P;P	0.45957	0.856;0.869	B;B	0.41988	0.254;0.372	T	0.21518	-1.0243	10	0.21540	T	0.41	.	19.1149	0.93334	0.0:0.0:1.0:0.0	.	879;879	Q4KWH8;Q4KWH8-3	PLCH1_HUMAN;.	G	879	ENSP00000402759:A879G;ENSP00000345988:A879G	ENSP00000345988:A879G	A	-	2	0	PLCH1	156686637	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.233000	0.95337	2.513000	0.84729	0.491000	0.48974	GCT	PLCH1	-	NULL		0.393	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	G	NM_014996		155203943	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	1.000	C
PLD1	5337	genome.wustl.edu	37	3	171453323	171453323	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:171453323G>C	ENST00000351298.4	-	4	519	c.393C>G	c.(391-393)ctC>ctG	p.L131L	PLD1_ENST00000342215.6_Silent_p.L131L|PLD1_ENST00000340989.4_Silent_p.L131L|PLD1_ENST00000356327.5_Silent_p.L131L	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	131	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTTGTACTTGAGCAGCTCTC	0.348																																					NSCLC(149;2174 3517 34058)												0													159.0	156.0	157.0					3																	171453323		2203	4300	6503	SO:0001819	synonymous_variant	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.393C>G	3.37:g.171453323G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.L131	ENST00000351298.4	37	c.393	CCDS3216.1	3																																																																																			PLD1	-	pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox		0.348	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2	G	NM_002662		171453323	-1	no_errors	ENST00000351298	ensembl	human	known	70_37	silent	SNP	0.807	C
PLEC	5339	genome.wustl.edu	37	8	144996117	144996117	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:144996117C>G	ENST00000322810.4	-	32	8452	c.8283G>C	c.(8281-8283)aaG>aaC	p.K2761N	PLEC_ENST00000356346.3_Missense_Mutation_p.K2610N|PLEC_ENST00000436759.2_Missense_Mutation_p.K2651N|PLEC_ENST00000354589.3_Missense_Mutation_p.K2624N|PLEC_ENST00000354958.2_Missense_Mutation_p.K2602N|PLEC_ENST00000357649.2_Missense_Mutation_p.K2628N|PLEC_ENST00000527096.1_Missense_Mutation_p.K2647N|PLEC_ENST00000345136.3_Missense_Mutation_p.K2624N|PLEC_ENST00000398774.2_Missense_Mutation_p.K2592N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2761	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGGCAGGGTCTTTGTGGCAG	0.682																																																	0													15.0	19.0	17.0					8																	144996117		2064	4147	6211	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8283G>C	8.37:g.144996117C>G	ENSP00000323856:p.Lys2761Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.K2761N	ENST00000322810.4	37	c.8283	CCDS43772.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.617|1.617	-0.522615|-0.522615	0.04141|0.04141	.|.	.|.	ENSG00000178209|ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096|ENST00000527303	T;T;T;T;T;T;T;T;T|.	0.78816|.	-1.18;-1.18;-1.21;-1.21;-1.19;-1.18;-1.18;-1.18;-1.18|.	3.95|3.95	-4.11|-4.11	0.03928|0.03928	.|.	0.295461|.	0.24750|.	U|.	0.035906|.	T|T	0.34629|0.34629	0.0904|0.0904	L|L	0.46157|0.46157	1.445|1.445	0.26090|0.26090	N|N	0.980962|0.980962	B;B;B;B;B;B;B;B|.	0.25609|.	0.039;0.039;0.039;0.023;0.039;0.039;0.13;0.039|.	B;B;B;B;B;B;B;B|.	0.28849|.	0.095;0.095;0.095;0.044;0.095;0.095;0.095;0.095|.	T|T	0.38607|0.38607	-0.9653|-0.9653	10|5	0.52906|.	T|.	0.07|.	.|.	7.0575|7.0575	0.25107|0.25107	0.1113:0.5163:0.0:0.3724|0.1113:0.5163:0.0:0.3724	.|.	2651;2610;2602;2761;2592;2624;2628;2624|.	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4|.	.;.;.;PLEC_HUMAN;.;.;.;.|.	N|T	2624;2628;2624;2592;2761;2602;2610;2651;2647|194	ENSP00000344848:K2624N;ENSP00000350277:K2628N;ENSP00000346602:K2624N;ENSP00000381756:K2592N;ENSP00000323856:K2761N;ENSP00000347044:K2602N;ENSP00000348702:K2610N;ENSP00000388180:K2651N;ENSP00000434583:K2647N|.	ENSP00000323856:K2761N|.	K|R	-|-	3|2	2|0	PLEC|PLEC	145068105|145068105	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.019000|0.019000	0.09904|0.09904	-0.110000|-0.110000	0.10824|0.10824	-1.056000|-1.056000	0.03205|0.03205	0.448000|0.448000	0.29417|0.29417	AAG|AGA	PLEC	-	NULL		0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144996117	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	0.367	G
PLEC	5339	genome.wustl.edu	37	8	145006129	145006129	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:145006129C>T	ENST00000322810.4	-	18	2734	c.2565G>A	c.(2563-2565)ctG>ctA	p.L855L	PLEC_ENST00000356346.3_Silent_p.L704L|PLEC_ENST00000436759.2_Silent_p.L745L|PLEC_ENST00000354589.3_Silent_p.L718L|PLEC_ENST00000354958.2_Silent_p.L696L|PLEC_ENST00000357649.2_Silent_p.L722L|PLEC_ENST00000527096.1_Silent_p.L741L|PLEC_ENST00000345136.3_Silent_p.L718L|PLEC_ENST00000398774.2_Silent_p.L686L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	855	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGTTCTCCTTCAGGTGTGCCT	0.667																																																	0													19.0	24.0	22.0					8																	145006129		2111	4236	6347	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2565G>A	8.37:g.145006129C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.L855	ENST00000322810.4	37	c.2565	CCDS43772.1	8																																																																																			PLEC	-	smart_Spectrin/alpha-actinin		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		145006129	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	1.000	T
PLEC	5339	genome.wustl.edu	37	8	145012332	145012332	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:145012332G>A	ENST00000322810.4	-	3	831	c.662C>T	c.(661-663)tCg>tTg	p.S221L	PLEC_ENST00000356346.3_Missense_Mutation_p.S70L|PLEC_ENST00000436759.2_Missense_Mutation_p.S111L|PLEC_ENST00000354589.3_Missense_Mutation_p.S84L|PLEC_ENST00000354958.2_Missense_Mutation_p.S62L|PLEC_ENST00000357649.2_Missense_Mutation_p.S88L|PLEC_ENST00000527096.1_Missense_Mutation_p.S111L|PLEC_ENST00000345136.3_Missense_Mutation_p.S84L|PLEC_ENST00000398774.2_Missense_Mutation_p.S52L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	221	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGTCCCCCGAGAGGACCTC	0.692																																																	0													28.0	33.0	31.0					8																	145012332		1993	4153	6146	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.662C>T	8.37:g.145012332G>A	ENSP00000323856:p.Ser221Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.S221L	ENST00000322810.4	37	c.662	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554336	0.65425	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025;ENST00000526416;ENST00000528131	D;D;D;D;D;D;D;D;D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64	5.05	5.05	0.67936	Calponin homology domain (5);	0.000000	0.56097	U	0.000026	D	0.96667	0.8912	M	0.66378	2.025	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.998;0.999;0.998;0.998;0.998;0.998	D	0.97222	0.9878	10	0.87932	D	0	.	15.8854	0.79244	0.0:0.0:1.0:0.0	.	111;70;62;221;52;84;88;84	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	84;88;84;52;221;62;70;111;111;116;61;101	ENSP00000344848:S84L;ENSP00000350277:S88L;ENSP00000346602:S84L;ENSP00000381756:S52L;ENSP00000323856:S221L;ENSP00000347044:S62L;ENSP00000348702:S70L;ENSP00000388180:S111L;ENSP00000434583:S111L;ENSP00000437303:S116L;ENSP00000433557:S61L;ENSP00000436702:S101L	ENSP00000323856:S221L	S	-	2	0	PLEC	145084320	1.000000	0.71417	0.945000	0.38365	0.979000	0.70002	5.577000	0.67444	2.350000	0.79820	0.555000	0.69702	TCG	PLEC	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	G	NM_000445		145012332	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	A
PLEC	5339	genome.wustl.edu	37	8	145024811	145024811	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:145024811C>T	ENST00000322810.4	-	1	233	c.64G>A	c.(64-66)Gag>Aag	p.E22K	PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	22	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATCACGCCCTCGCGGAAGAGC	0.687																																																	0													7.0	10.0	9.0					8																	145024811		2069	4182	6251	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.64G>A	8.37:g.145024811C>T	ENSP00000323856:p.Glu22Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E22K	ENST00000322810.4	37	c.64	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	c	18.90	3.722172	0.68959	.	.	ENSG00000178209	ENST00000322810	D	0.83506	-1.73	4.9	4.9	0.64082	Plectin/S10, N-terminal (1);	0.128191	0.28560	U	0.014903	T	0.80460	0.4627	M	0.65975	2.015	0.80722	D	1	D	0.53151	0.958	B	0.38056	0.264	D	0.84821	0.0796	10	0.87932	D	0	.	15.5576	0.76208	0.0:1.0:0.0:0.0	.	22	Q15149	PLEC_HUMAN	K	22	ENSP00000323856:E22K	ENSP00000323856:E22K	E	-	1	0	PLEC	145096799	1.000000	0.71417	0.847000	0.33407	0.827000	0.46813	5.771000	0.68881	2.263000	0.75096	0.563000	0.77884	GAG	PLEC	-	pfam_S10_plectin_N		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		145024811	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	T
PLEKHA1	59338	genome.wustl.edu	37	10	124191267	124191267	+	3'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:124191267C>G	ENST00000368990.3	+	0	3159				PLEKHA1_ENST00000368988.1_3'UTR|PLEKHA1_ENST00000368989.2_3'UTR|PLEKHA1_ENST00000433307.1_3'UTR	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1						androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GATTTTTTCTCTTTTGCAGCT	0.249																																																	0																																										SO:0001624	3_prime_UTR_variant	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.*1813C>G	10.37:g.124191267C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQ55|D3DRE2|Q9BVK0	RNA	SNP	-	NULL	ENST00000368990.3	37	NULL	CCDS7629.1	10																																																																																			PLEKHA1	-	-		0.249	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA1	HGNC	protein_coding	OTTHUMT00000050783.1	C	NM_001001974		124191267	+1	no_errors	ENST00000479786	ensembl	human	known	70_37	rna	SNP	0.040	G
PLEKHA8	84725	genome.wustl.edu	37	7	30118402	30118402	+	Nonstop_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:30118402G>C	ENST00000449726.1	+	14	1909	c.1559G>C	c.(1558-1560)tGa>tCa	p.*520S	PLEKHA8_ENST00000396259.1_Intron|PLEKHA8_ENST00000396257.2_Intron|PLEKHA8_ENST00000258679.7_Intron	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	0					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GAGGTGGTATGATGGCTGCTG	0.522																																																	0													61.0	58.0	59.0					7																	30118402		876	1991	2867	SO:0001578	stop_lost	84725			BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.1559G>C	7.37:g.30118402G>C	ENSP00000397947:p.*520Serext*8	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Nonstop_Mutation	SNP	pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.*520S	ENST00000449726.1	37	c.1559	CCDS56473.1	7	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719975	0.68844	.	.	ENSG00000106086	ENST00000449726;ENST00000440706	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6605	0.77182	0.0:0.0:1.0:0.0	.	.	.	.	S	520;546	.	.	X	+	2	2	PLEKHA8	30084927	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	6.310000	0.72830	2.564000	0.86499	0.655000	0.94253	TGA	PLEKHA8	-	NULL		0.522	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA8	HGNC	protein_coding		G	NM_032639		30118402	+1	no_errors	ENST00000449726	ensembl	human	known	70_37	nonstop	SNP	1.000	C
PLEKHG3	26030	genome.wustl.edu	37	14	65210858	65210858	+	3'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:65210858G>C	ENST00000394691.1	+	0	4244				PLEKHG3_ENST00000484731.2_3'UTR|PLEKHG3_ENST00000247226.7_3'UTR|PLEKHG3_ENST00000471182.2_3'UTR|PLEKHG3_ENST00000492928.1_3'UTR			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3								Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGGCAGGAATGAAGCCAATAA	0.517																																																	0																																										SO:0001624	3_prime_UTR_variant	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.*437G>C	14.37:g.65210858G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	RNA	SNP	-	NULL	ENST00000394691.1	37	NULL		14																																																																																			PLEKHG3	-	-		0.517	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	G	NM_015549		65210858	+1	no_errors	ENST00000492928	ensembl	human	known	70_37	rna	SNP	0.002	C
PLEKHG3	26030	genome.wustl.edu	37	14	65210909	65210909	+	3'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:65210909G>C	ENST00000394691.1	+	0	4295				PLEKHG3_ENST00000484731.2_3'UTR|PLEKHG3_ENST00000247226.7_3'UTR|PLEKHG3_ENST00000471182.2_3'UTR|PLEKHG3_ENST00000492928.1_3'UTR			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3								Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCGTGTGCGTGAGTGTGTGGC	0.473																																																	0																																										SO:0001624	3_prime_UTR_variant	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.*488G>C	14.37:g.65210909G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	RNA	SNP	-	NULL	ENST00000394691.1	37	NULL		14																																																																																			PLEKHG3	-	-		0.473	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	G	NM_015549		65210909	+1	no_errors	ENST00000492928	ensembl	human	known	70_37	rna	SNP	0.032	C
PLEKHO2	80301	genome.wustl.edu	37	15	65157665	65157665	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:65157665G>C	ENST00000323544.4	+	6	1179	c.1051G>C	c.(1051-1053)Gag>Cag	p.E351Q	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	351	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGACAGTCCTGAGCCTGCCAA	0.587																																																	0													68.0	68.0	68.0					15																	65157665		2202	4299	6501	SO:0001583	missense	80301			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1051G>C	15.37:g.65157665G>C	ENSP00000326706:p.Glu351Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7L4H4|Q8WYS8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E351Q	ENST00000323544.4	37	c.1051	CCDS10196.1	15	.	.	.	.	.	.	.	.	.	.	G	8.593	0.885099	0.17540	.	.	ENSG00000241839	ENST00000323544	T	0.32272	1.46	5.42	3.51	0.40186	.	0.422191	0.24851	N	0.035088	T	0.20210	0.0486	L	0.29908	0.895	0.09310	N	1	B;B	0.30937	0.301;0.118	B;B	0.24974	0.057;0.026	T	0.17107	-1.0380	10	0.62326	D	0.03	.	9.0174	0.36179	0.0791:0.1462:0.7747:0.0	.	301;351	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	Q	351	ENSP00000326706:E351Q	ENSP00000326706:E351Q	E	+	1	0	PLEKHO2	62944718	0.906000	0.30813	0.029000	0.17559	0.067000	0.16453	2.347000	0.44036	1.260000	0.44134	-0.175000	0.13238	GAG	PLEKHO2	-	NULL		0.587	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHO2	HGNC	protein_coding	OTTHUMT00000256659.1	G	NM_025201		65157665	+1	no_errors	ENST00000323544	ensembl	human	known	70_37	missense	SNP	0.068	C
PLIN2	123	genome.wustl.edu	37	9	19126026	19126026	+	Intron	SNP	G	G	C	rs538707374		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:19126026G>C	ENST00000276914.2	-	3	406				PLIN2_ENST00000411567.1_Intron|PLIN2_ENST00000380465.3_Intron|PLIN2_ENST00000380464.3_Intron	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2						cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						AGGAAGGGCTGAGGAGTTCCA	0.463																																																	0																																										SO:0001627	intron_variant	123			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.226+85C>G	9.37:g.19126026G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BSC3	RNA	SNP	-	NULL	ENST00000276914.2	37	NULL	CCDS6490.1	9																																																																																			PLIN2	-	-		0.463	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN2	HGNC	protein_coding	OTTHUMT00000051835.1	G	NM_001122		19126026	-1	no_errors	ENST00000472715	ensembl	human	known	70_37	rna	SNP	0.000	C
PLIN4	729359	genome.wustl.edu	37	19	4513500	4513500	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:4513500G>C	ENST00000301286.3	-	3	429	c.430C>G	c.(430-432)Ctg>Gtg	p.L144V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	144	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GAGGTGTCCAGACCCCCTTGG	0.652																																																	0													41.0	45.0	44.0					19																	4513500		1962	4133	6095	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.430C>G	19.37:g.4513500G>C	ENSP00000301286:p.Leu144Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.L144V	ENST00000301286.3	37	c.430	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478435	0.26511	.	.	ENSG00000167676	ENST00000301286	T	0.19250	2.16	5.36	-1.42	0.08913	.	0.747887	0.11064	N	0.603701	T	0.06781	0.0173	N	0.05608	-0.01	0.09310	N	0.999998	B	0.32604	0.377	B	0.33121	0.158	T	0.30268	-0.9984	10	0.02654	T	1	-11.5493	3.4973	0.07659	0.0762:0.2556:0.2999:0.3682	.	144	Q96Q06	PLIN4_HUMAN	V	144	ENSP00000301286:L144V	ENSP00000301286:L144V	L	-	1	2	PLIN4	4464500	0.000000	0.05858	0.093000	0.20910	0.228000	0.25075	-1.147000	0.03188	-0.081000	0.12662	0.511000	0.50034	CTG	PLIN4	-	superfamily_Ankyrin_rpt-contain_dom		0.652	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	G	XM_170901		4513500	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	missense	SNP	0.040	C
PLIN5	440503	genome.wustl.edu	37	19	4529814	4529814	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:4529814G>A	ENST00000381848.3	-	4	401	c.321C>T	c.(319-321)ctC>ctT	p.L107L	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	107	Essential for lipid droplet targeting. {ECO:0000250}.|Interaction with LIPE. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						AAGGTTGCTGGAGAAAGGGAA	0.627																																																	0													80.0	83.0	82.0					19																	4529814		1949	4139	6088	SO:0001819	synonymous_variant	440503			DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.321C>T	19.37:g.4529814G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRC1|Q6ZS68	Silent	SNP	pfam_Perilipin,pirsf_Perilipin	p.L107	ENST00000381848.3	37	c.321	CCDS42473.1	19																																																																																			PLIN5	-	pfam_Perilipin,pirsf_Perilipin		0.627	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN5	HGNC	protein_coding	OTTHUMT00000458647.1	G	NM_001013706		4529814	-1	no_errors	ENST00000381848	ensembl	human	known	70_37	silent	SNP	0.855	A
PLOD1	5351	genome.wustl.edu	37	1	12032750	12032750	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:12032750G>A	ENST00000196061.4	+	18	1929				PLOD1_ENST00000376369.3_Intron	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1						cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	catttttgttgagaacctttt	0.562																																																	0																																										SO:0001627	intron_variant	5351			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1903-179G>A	1.37:g.12032750G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR87|Q96AV9|Q9H132	RNA	SNP	-	NULL	ENST00000196061.4	37	NULL	CCDS142.1	1																																																																																			PLOD1	-	-		0.562	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD1	HGNC	protein_coding	OTTHUMT00000006865.1	G	NM_000302		12032750	+1	no_errors	ENST00000481933	ensembl	human	known	70_37	rna	SNP	0.001	A
PLXNA3	55558	genome.wustl.edu	37	X	153697543	153697543	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:153697543G>A	ENST00000369682.3	+	26	4754	c.4579G>A	c.(4579-4581)Gag>Aag	p.E1527K	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1527					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCCAAAGCTGAGGACATGGA	0.607																																																	0													78.0	63.0	68.0					X																	153697543		2203	4300	6503	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4579G>A	X.37:g.153697543G>A	ENSP00000358696:p.Glu1527Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1527K	ENST00000369682.3	37	c.4579	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513075	0.44660	.	.	ENSG00000130827	ENST00000369682	T	0.11712	2.75	5.57	4.71	0.59529	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.121669	0.53938	N	0.000044	T	0.12603	0.0306	L	0.56199	1.76	0.49389	D	0.999787	B	0.23806	0.091	B	0.33121	0.158	T	0.03453	-1.1035	10	0.07644	T	0.81	.	12.5134	0.56017	0.0839:0.0:0.9161:0.0	.	1527	P51805	PLXA3_HUMAN	K	1527	ENSP00000358696:E1527K	ENSP00000358696:E1527K	E	+	1	0	PLXNA3	153350737	1.000000	0.71417	0.945000	0.38365	0.987000	0.75469	6.773000	0.75006	1.120000	0.41904	0.597000	0.82753	GAG	PLXNA3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.607	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	G	NM_017514		153697543	+1	no_errors	ENST00000369682	ensembl	human	known	70_37	missense	SNP	0.998	A
PM20D1	148811	genome.wustl.edu	37	1	205799287	205799287	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:205799287C>T	ENST00000367136.4	-	12	1430				PM20D1_ENST00000460624.1_Intron	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1						negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GTCTCCATTTCATTTTGCCAA	0.453																																																	0																																										SO:0001627	intron_variant	148811				CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.1385+120G>A	1.37:g.205799287C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P4E3|Q96DM4	RNA	SNP	-	NULL	ENST00000367136.4	37	NULL	CCDS1460.1	1																																																																																			PM20D1	-	-		0.453	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PM20D1	HGNC	protein_coding	OTTHUMT00000087736.1	C	NM_152491		205799287	-1	no_errors	ENST00000469861	ensembl	human	putative	70_37	rna	SNP	0.018	T
PML	5371	genome.wustl.edu	37	15	74328176	74328176	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:74328176G>A	ENST00000268058.3	+	7	1806				PML_ENST00000268059.6_Missense_Mutation_p.E792K|PML_ENST00000565898.1_Intron|PML_ENST00000354026.6_Missense_Mutation_p.E744K|PML_ENST00000436891.3_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000395135.3_Intron	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGGCTCCATGGAGGCCTCTCA	0.622			T	"""RARA, PAX5"""	"""APL, ALL"""																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													60.0	74.0	69.0					15																	74328176		2198	4296	6494	SO:0001627	intron_variant	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+1305G>A	15.37:g.74328176G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E792K	ENST00000268058.3	37	c.2374	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489858	0.26686	.	.	ENSG00000140464	ENST00000268059;ENST00000354026	.	.	.	3.43	1.52	0.23074	.	.	.	.	.	T	0.17789	0.0427	N	0.08118	0	0.09310	N	1	B;B	0.20550	0.046;0.046	B;B	0.19666	0.026;0.026	T	0.21109	-1.0255	8	0.87932	D	0	.	4.7751	0.13175	0.1225:0.223:0.6545:0.0	.	744;792	P29590-13;P29590-8	.;.	K	792;744	.	ENSP00000268059:E792K	E	+	1	0	PML	72115229	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.392000	0.20801	0.441000	0.26529	-0.502000	0.04539	GAG	PML	-	NULL		0.622	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	G	NM_002675		74328176	+1	no_errors	ENST00000268059	ensembl	human	known	70_37	missense	SNP	0.004	A
PNKP	11284	genome.wustl.edu	37	19	50365331	50365331	+	Silent	SNP	G	G	A	rs373766090		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:50365331G>A	ENST00000322344.3	-	13	1267	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	PNKP_ENST00000596014.1_Silent_p.L386L|PNKP_ENST00000600573.1_Silent_p.L355L|AC018766.4_ENST00000596624.1_RNA|PNKP_ENST00000600910.1_Silent_p.L386L|AC018766.5_ENST00000593654.1_RNA|AC018766.5_ENST00000601893.1_RNA	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	386	Kinase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CGGCCGACACGAGGTGCTTCT	0.592								Other BER factors																																									0													66.0	62.0	63.0					19																	50365331		2203	4300	6503	SO:0001819	synonymous_variant	11284			AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.1158C>T	19.37:g.50365331G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA	p.L386	ENST00000322344.3	37	c.1158	CCDS12783.1	19																																																																																			PNKP	-	tigrfam_PNK_3Pase_met		0.592	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNKP	HGNC	protein_coding	OTTHUMT00000465830.1	G	NM_007254		50365331	-1	no_errors	ENST00000322344	ensembl	human	known	70_37	silent	SNP	0.294	A
PNKP	11284	genome.wustl.edu	37	19	50365343	50365343	+	Silent	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:50365343G>T	ENST00000322344.3	-	13	1255	c.1146C>A	c.(1144-1146)ctC>ctA	p.L382L	PNKP_ENST00000596014.1_Silent_p.L382L|PNKP_ENST00000600573.1_Silent_p.L351L|AC018766.4_ENST00000596624.1_RNA|PNKP_ENST00000600910.1_Silent_p.L382L|AC018766.5_ENST00000593654.1_RNA|AC018766.5_ENST00000601893.1_RNA	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	382	Kinase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GGTGCTTCTTGAGAAAGGTGG	0.592								Other BER factors																																									0													65.0	60.0	62.0					19																	50365343		2203	4300	6503	SO:0001819	synonymous_variant	11284			AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.1146C>A	19.37:g.50365343G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA	p.L382	ENST00000322344.3	37	c.1146	CCDS12783.1	19																																																																																			PNKP	-	tigrfam_PNK_3Pase_met		0.592	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNKP	HGNC	protein_coding	OTTHUMT00000465830.1	G	NM_007254		50365343	-1	no_errors	ENST00000322344	ensembl	human	known	70_37	silent	SNP	1.000	T
PNPLA2	57104	genome.wustl.edu	37	11	821706	821706	+	Missense_Mutation	SNP	A	A	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:821706A>G	ENST00000336615.4	+	3	468	c.266A>G	c.(265-267)aAc>aGc	p.N89S	AP006621.8_ENST00000528982.1_RNA|AP006621.8_ENST00000532946.1_RNA	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	89	Patatin.				acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of sequestering of triglyceride (GO:0010891)|phospholipid metabolic process (GO:0006644)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCTCCTTCAACCTGGTAAAG	0.602																																																	0													61.0	57.0	58.0					11																	821706		2203	4299	6502	SO:0001583	missense	57104			AJ278475	CCDS7718.1	11p15.5	2014-03-14			ENSG00000177666	ENSG00000177666	3.1.1.3	"""Patatin-like phospholipase domain containing"""	30802	protein-coding gene	gene with protein product		609059				8619474, 16799181, 19029121	Standard	NM_020376		Approved	desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta	uc001lrt.3	Q96AD5	OTTHUMG00000133309	ENST00000336615.4:c.266A>G	11.37:g.821706A>G	ENSP00000337701:p.Asn89Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O60643|Q5EFF5|Q6XYE5|Q96ET6|Q9NQ61|Q9NQ62	Missense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.N89S	ENST00000336615.4	37	c.266	CCDS7718.1	11	.	.	.	.	.	.	.	.	.	.	A	22.5	4.293951	0.81025	.	.	ENSG00000177666	ENST00000336615	T	0.76448	-1.02	4.24	4.24	0.50183	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	T	0.82231	0.4992	L	0.58428	1.81	0.80722	D	1	P	0.46395	0.877	P	0.55667	0.781	T	0.82904	-0.0226	10	0.48119	T	0.1	-31.182	13.4886	0.61382	1.0:0.0:0.0:0.0	.	89	Q96AD5	PLPL2_HUMAN	S	89	ENSP00000337701:N89S	ENSP00000337701:N89S	N	+	2	0	PNPLA2	811706	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	7.199000	0.77831	1.781000	0.52344	0.459000	0.35465	AAC	PNPLA2	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase		0.602	PNPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPLA2	HGNC	protein_coding	OTTHUMT00000257106.1	A	NM_020376		821706	+1	no_errors	ENST00000336615	ensembl	human	known	70_37	missense	SNP	1.000	G
PNPLA3	80339	genome.wustl.edu	37	22	44319931	44319931	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:44319931C>T	ENST00000216180.3	+	1	313	c.140C>T	c.(139-141)tCg>tTg	p.S47L	PNPLA3_ENST00000423180.2_Missense_Mutation_p.S47L	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	47	Patatin.				acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				TTCGGCGCTTCGGCCGGGGCG	0.736																																																	0													13.0	13.0	13.0					22																	44319931		2151	4245	6396	SO:0001583	missense	80339				CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.140C>T	22.37:g.44319931C>T	ENSP00000216180:p.Ser47Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.S47L	ENST00000216180.3	37	c.140	CCDS14054.1	22	.	.	.	.	.	.	.	.	.	.	c	32	5.125763	0.94429	.	.	ENSG00000100344	ENST00000216180;ENST00000423180	D;D	0.96940	-4.18;-3.8	4.87	3.84	0.44239	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.64402	D	0.000004	D	0.98488	0.9496	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98988	1.0807	10	0.66056	D	0.02	-17.7889	13.2942	0.60288	0.1597:0.8403:0.0:0.0	.	47	Q9NST1	PLPL3_HUMAN	L	47	ENSP00000216180:S47L;ENSP00000397987:S47L	ENSP00000216180:S47L	S	+	2	0	PNPLA3	42651264	1.000000	0.71417	0.013000	0.15412	0.698000	0.40448	7.002000	0.76304	1.017000	0.39495	0.298000	0.19748	TCG	PNPLA3	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase		0.736	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PNPLA3	HGNC	protein_coding	OTTHUMT00000318891.1	C	NM_025225		44319931	+1	no_errors	ENST00000216180	ensembl	human	known	70_37	missense	SNP	1.000	T
PODN	127435	genome.wustl.edu	37	1	53537219	53537219	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:53537219G>C	ENST00000312553.5	+	3	476	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	PODN_ENST00000471210.1_3'UTR|PODN_ENST00000371500.3_Missense_Mutation_p.E138Q|PODN_ENST00000395871.2_Intron|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	109					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAACCAGCTGGAAAAGATCTA	0.617																																																	0													48.0	44.0	45.0					1																	53537219		2202	4300	6502	SO:0001583	missense	127435			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.469G>C	1.37:g.53537219G>C	ENSP00000308315:p.Glu157Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.E157Q	ENST00000312553.5	37	c.469	CCDS573.1	1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.232908	0.58777	.	.	ENSG00000174348	ENST00000371500;ENST00000312553	T;T	0.57907	0.37;0.37	5.18	5.18	0.71444	.	0.427429	0.25922	N	0.027421	T	0.57021	0.2025	L	0.35341	1.055	0.80722	D	1	D;B	0.60575	0.988;0.178	P;B	0.58721	0.844;0.108	T	0.46735	-0.9170	10	0.18710	T	0.47	.	17.6222	0.88085	0.0:0.0:1.0:0.0	.	138;157	Q7Z5L7-2;Q7Z5L7-3	.;.	Q	138;157	ENSP00000360555:E138Q;ENSP00000308315:E157Q	ENSP00000308315:E157Q	E	+	1	0	PODN	53309807	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.314000	0.51943	2.688000	0.91661	0.655000	0.94253	GAA	PODN	-	NULL		0.617	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PODN	HGNC	protein_coding	OTTHUMT00000024735.1	G	NM_153703		53537219	+1	no_errors	ENST00000312553	ensembl	human	known	70_37	missense	SNP	1.000	C
CC2D1A	54862	genome.wustl.edu	37	19	14042666	14042666	+	IGR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:14042666C>T	ENST00000318003.7	+	0	3581				PODNL1_ENST00000538517.2_3'UTR	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A						positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGGAAGGCCTCAGCCGCGATG	0.687																																																	0																																										SO:0001628	intergenic_variant	79883			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0			19.37:g.14042666C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.*136	ENST00000318003.7	37	c.407	CCDS42512.1	19																																																																																			PODNL1	-	NULL		0.687	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	PODNL1	HGNC	protein_coding	OTTHUMT00000457954.1	C	NM_017721		14042666	-1	no_errors	ENST00000587954	ensembl	human	putative	70_37	silent	SNP	0.775	T
POLQ	10721	genome.wustl.edu	37	3	121208673	121208673	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:121208673C>G	ENST00000264233.5	-	16	3233	c.3105G>C	c.(3103-3105)atG>atC	p.M1035I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1035					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AACTTCTGCTCATCTTTTCTG	0.408								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													66.0	74.0	71.0					3																	121208673		2203	4300	6503	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3105G>C	3.37:g.121208673C>G	ENSP00000264233:p.Met1035Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.M1035I	ENST00000264233.5	37	c.3105	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.438637	0.01098	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.45276	0.9	4.89	2.03	0.26663	.	1.177160	0.05773	N	0.607078	T	0.23054	0.0557	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.21724	-1.0237	10	0.22706	T	0.39	.	3.3674	0.07208	0.1768:0.5584:0.171:0.0938	.	1035;207	O75417;O75417-2	DPOLQ_HUMAN;.	I	658;1035;1171	ENSP00000264233:M1035I	ENSP00000264233:M1035I	M	-	3	0	POLQ	122691363	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.359000	0.07632	0.230000	0.21059	0.563000	0.77884	ATG	POLQ	-	NULL		0.408	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	C	NM_199420		121208673	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	missense	SNP	0.000	G
POLR1E	64425	genome.wustl.edu	37	9	37503116	37503116	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:37503116G>C	ENST00000377798.4	+	12	1290	c.1177G>C	c.(1177-1179)Gat>Cat	p.D393H	POLR1E_ENST00000442009.2_Missense_Mutation_p.D323H|POLR1E_ENST00000377792.3_Missense_Mutation_p.D455H	NM_022490.1	NP_071935.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CAGTGAAGAAGATCACAAGCT	0.547																																					Ovarian(116;843 1620 18506 32459 34463)												0													81.0	86.0	85.0					9																	37503116		2203	4300	6503	SO:0001583	missense	64425			AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"""RNA polymerase subunits"""	17631	protein-coding gene	gene with protein product	"""RNA polymerase I associated factor 53"""		"""polymerase (RNA) I associated factor 1"""	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377798.4:c.1177G>C	9.37:g.37503116G>C	ENSP00000367029:p.Asp393His	Somatic		WXS	Illumina HiSeq	Phase_IV	O75395|Q5JTE3	Missense_Mutation	SNP	pfam_RNA_pol-assoc_fac_A49-like	p.D455H	ENST00000377798.4	37	c.1363	CCDS6611.1	9	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085150	0.36758	.	.	ENSG00000137054	ENST00000377798;ENST00000442009;ENST00000377792	T;T;T	0.22134	1.97;1.97;1.97	5.69	2.63	0.31362	.	0.963230	0.08678	N	0.909801	T	0.15782	0.0380	N	0.19112	0.55	0.26502	N	0.974754	B;B;B	0.22851	0.076;0.037;0.009	B;B;B	0.25405	0.06;0.042;0.014	T	0.30001	-0.9993	10	0.45353	T	0.12	-1.4785	10.5286	0.44963	0.0705:0.2489:0.6806:0.0	.	323;455;393	E7EX70;Q9GZS1;Q9GZS1-2	.;RPA49_HUMAN;.	H	393;323;455	ENSP00000367029:D393H;ENSP00000399887:D323H;ENSP00000367023:D455H	ENSP00000367023:D455H	D	+	1	0	POLR1E	37493116	1.000000	0.71417	0.633000	0.29310	0.691000	0.40173	2.656000	0.46716	0.694000	0.31654	0.655000	0.94253	GAT	POLR1E	-	pfam_RNA_pol-assoc_fac_A49-like		0.547	POLR1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1E	HGNC	protein_coding	OTTHUMT00000052464.1	G	NM_022490		37503116	+1	no_errors	ENST00000377792	ensembl	human	known	70_37	missense	SNP	0.803	C
POLR2A	5430	genome.wustl.edu	37	17	7416923	7416923	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:7416923C>T	ENST00000322644.6	+	29	5739	c.5340C>T	c.(5338-5340)agC>agT	p.S1780S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1780	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CACCTACCAGCCCTAACTACA	0.532																																																	0													566.0	554.0	558.0					17																	7416923		2203	4300	6503	SO:0001819	synonymous_variant	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5340C>T	17.37:g.7416923C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NN93|B9EH88|Q6NX41	Silent	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.S1780	ENST00000322644.6	37	c.5340	CCDS32548.1	17																																																																																			POLR2A	-	pfam_RNA_pol_II_repeat_euk		0.532	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	C	NM_000937		7416923	+1	no_errors	ENST00000322644	ensembl	human	known	70_37	silent	SNP	0.997	T
POLR2J3	548644	genome.wustl.edu	37	7	102212863	102212863	+	5'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:102212863G>A	ENST00000504157.1	-	0	144				RP11-514P8.7_ENST00000514917.2_Intron|POLR2J3_ENST00000511313.1_Intron|POLR2J3_ENST00000513438.1_Intron			Q9H1A7	RPB1C_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J3						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)										AGACACCCCAGAATGCGACAG	0.637																																																	0													22.0	51.0	42.0					7																	102212863		684	1576	2260	SO:0001623	5_prime_UTR_variant	548644				CCDS47673.1	7q22.1	2013-01-21			ENSG00000168255	ENSG00000168255		"""RNA polymerase subunits"""	33853	protein-coding gene	gene with protein product						15586814	Standard	NM_001097615		Approved		uc010lid.1	Q9H1A7	OTTHUMG00000150384	ENST00000504157.1:c.-2067C>T	7.37:g.102212863G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKA1	RNA	SNP	-	NULL	ENST00000504157.1	37	NULL		7																																																																																			POLR2J3	-	-		0.637	POLR2J3-006	KNOWN	basic	processed_transcript	POLR2J3	HGNC	protein_coding	OTTHUMT00000358592.1	G	NM_001097615		102212863	-1	no_errors	ENST00000504157	ensembl	human	known	70_37	rna	SNP	0.000	A
POLR3C	10623	genome.wustl.edu	37	1	145596999	145596999	+	Missense_Mutation	SNP	C	C	G	rs587745036		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:145596999C>G	ENST00000334163.3	-	11	1286	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q	POLR3C_ENST00000471254.1_5'Flank|POLR3C_ENST00000369294.1_Missense_Mutation_p.E376Q	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	376					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TGCTTCTGCTCTATGTGTTTC	0.408																																																	0													121.0	111.0	114.0					1																	145596999		2203	4300	6503	SO:0001583	missense	10623			AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"""RNA polymerase subunits"""	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.1126G>C	1.37:g.145596999C>G	ENSP00000334564:p.Glu376Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O15317|Q9Y3R6	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH	p.E376Q	ENST00000334163.3	37	c.1126	CCDS921.1	1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943553	0.92593	.	.	ENSG00000186141	ENST00000334163;ENST00000369294	T;T	0.60548	0.3;0.18	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.75406	0.3845	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.929;0.999;0.991	T	0.77091	-0.2716	10	0.66056	D	0.02	-21.7575	17.8364	0.88699	0.0:1.0:0.0:0.0	.	376;376;376	E9PHH9;Q9BUI4;Q53F76	.;RPC3_HUMAN;.	Q	376	ENSP00000334564:E376Q;ENSP00000358300:E376Q	ENSP00000334564:E376Q	E	-	1	0	POLR3C	144308356	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.376000	0.79658	2.884000	0.98904	0.655000	0.94253	GAG	POLR3C	-	NULL		0.408	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3C	HGNC	protein_coding	OTTHUMT00000038542.1	C	NM_006468		145596999	-1	no_errors	ENST00000334163	ensembl	human	known	70_37	missense	SNP	1.000	G
POTED	317754	genome.wustl.edu	37	21	15003385	15003385	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:15003385G>A	ENST00000299443.5	+	9	1418	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	456						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CAGAAAACCTGAAAATCAGCA	0.398																																																	0													1.0	1.0	1.0					21																	15003385		22	67	89	SO:0001583	missense	317754			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1366G>A	21.37:g.15003385G>A	ENSP00000299443:p.Glu456Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JCF7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E456K	ENST00000299443.5	37	c.1366	CCDS13562.1	21	.	.	.	.	.	.	.	.	.	.	G	5.212	0.224612	0.09916	.	.	ENSG00000166351	ENST00000299443	T	0.17528	2.27	1.34	0.407	0.16371	.	.	.	.	.	T	0.13500	0.0327	M	0.63428	1.95	0.09310	N	1	B	0.31931	0.347	B	0.20577	0.03	T	0.20605	-1.0270	9	0.42905	T	0.14	.	3.6786	0.08302	0.2594:0.0:0.7406:0.0	.	456	Q86YR6	POTED_HUMAN	K	456	ENSP00000299443:E456K	ENSP00000299443:E456K	E	+	1	0	POTED	13925256	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-0.257000	0.08745	0.151000	0.19162	0.121000	0.15741	GAA	POTED	-	NULL		0.398	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTED	HGNC	protein_coding	OTTHUMT00000157660.1	G	NM_174981		15003385	+1	no_errors	ENST00000299443	ensembl	human	known	70_37	missense	SNP	0.001	A
POU2F3	25833	genome.wustl.edu	37	11	120111078	120111078	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:120111078C>G	ENST00000543440.2	+	1	176	c.26C>G	c.(25-27)aCa>aGa	p.T9R	POU2F3_ENST00000260264.4_Intron	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	9					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TCCATGCACACAGGTGAGGGG	0.677																																																	0													23.0	25.0	24.0					11																	120111078		2199	4300	6499	SO:0001583	missense	25833			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.26C>G	11.37:g.120111078C>G	ENSP00000441687:p.Thr9Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.T9R	ENST00000543440.2	37	c.26	CCDS8431.1	11	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106158	0.37145	.	.	ENSG00000137709	ENST00000260264	D	0.84223	-1.82	4.68	3.76	0.43208	.	3.195390	0.00837	N	0.001704	T	0.77018	0.4069	N	0.14661	0.345	0.80722	D	1	B	0.16802	0.019	B	0.14578	0.011	T	0.62464	-0.6849	10	0.66056	D	0.02	.	7.0953	0.25307	0.1686:0.7404:0.0:0.091	.	9	Q9UKI9	PO2F3_HUMAN	R	9	ENSP00000260264:T9R	ENSP00000260264:T9R	T	+	2	0	POU2F3	119616288	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	4.359000	0.59449	0.961000	0.38030	0.313000	0.20887	ACA	POU2F3	-	NULL		0.677	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU2F3	HGNC	protein_coding	OTTHUMT00000388039.2	C			120111078	+1	no_errors	ENST00000260264	ensembl	human	known	70_37	missense	SNP	0.999	G
POU3F3	5455	genome.wustl.edu	37	2	105473121	105473121	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:105473121G>C	ENST00000361360.2	+	1	1153	c.1153G>C	c.(1153-1155)Gag>Cag	p.E385Q	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	385	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAAGTGGCTGGAGGAGGCGGA	0.617																																																	0													52.0	51.0	51.0					2																	105473121		2203	4300	6503	SO:0001583	missense	5455				CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	9216	protein-coding gene	gene with protein product		602480	"""POU domain class 3, transcription factor 3"""				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1153G>C	2.37:g.105473121G>C	ENSP00000355001:p.Glu385Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	P78379|Q4ZG25	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,prints_POU,pfscan_Homeodomain,pfscan_POU_specific	p.E385Q	ENST00000361360.2	37	c.1153	CCDS33265.1	2	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271011	0.59540	.	.	ENSG00000198914	ENST00000361360	D	0.84442	-1.85	4.14	4.14	0.48551	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.64402	U	0.000002	T	0.82093	0.4962	L	0.28400	0.85	0.54753	D	0.999986	P	0.36483	0.555	B	0.43445	0.42	D	0.84779	0.0772	10	0.87932	D	0	.	15.1857	0.72999	0.0:0.0:1.0:0.0	.	385	P20264	PO3F3_HUMAN	Q	385	ENSP00000355001:E385Q	ENSP00000355001:E385Q	E	+	1	0	POU3F3	104839553	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.171000	0.94802	1.858000	0.53909	0.462000	0.41574	GAG	POU3F3	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,prints_POU,pfscan_POU_specific		0.617	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	POU3F3	HGNC	protein_coding	OTTHUMT00000329335.2	G			105473121	+1	no_errors	ENST00000361360	ensembl	human	known	70_37	missense	SNP	1.000	C
POU3F3	5455	genome.wustl.edu	37	2	105473394	105473394	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:105473394G>A	ENST00000361360.2	+	1	1426	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	476					central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GACGCCCGACGACGTCTACTC	0.672																																																	0													21.0	25.0	24.0					2																	105473394		2202	4299	6501	SO:0001583	missense	5455				CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	9216	protein-coding gene	gene with protein product		602480	"""POU domain class 3, transcription factor 3"""				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1426G>A	2.37:g.105473394G>A	ENSP00000355001:p.Asp476Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	P78379|Q4ZG25	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,prints_POU,pfscan_Homeodomain,pfscan_POU_specific	p.D476N	ENST00000361360.2	37	c.1426	CCDS33265.1	2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964020	0.74131	.	.	ENSG00000198914	ENST00000361360	D	0.84516	-1.86	3.89	3.0	0.34707	Homeodomain-like (1);	0.942253	0.08564	U	0.927136	D	0.88833	0.6544	L	0.55990	1.75	0.46901	D	0.999243	D	0.67145	0.996	P	0.58620	0.842	D	0.83757	0.0212	10	0.72032	D	0.01	.	11.7004	0.51567	0.0:0.0:0.8215:0.1785	.	476	P20264	PO3F3_HUMAN	N	476	ENSP00000355001:D476N	ENSP00000355001:D476N	D	+	1	0	POU3F3	104839826	1.000000	0.71417	0.996000	0.52242	0.814000	0.46013	7.224000	0.78042	0.825000	0.34637	0.462000	0.41574	GAC	POU3F3	-	superfamily_Homeodomain-like,pirsf_Transcription_factor_POU		0.672	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	POU3F3	HGNC	protein_coding	OTTHUMT00000329335.2	G			105473394	+1	no_errors	ENST00000361360	ensembl	human	known	70_37	missense	SNP	1.000	A
POU5F1	5460	genome.wustl.edu	37	6	31138112	31138112	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:31138112C>T	ENST00000259915.8	-	1	358	c.286G>A	c.(286-288)Gag>Aag	p.E96K	POU5F1_ENST00000441888.3_Intron	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	96					anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	GCTTCGCCCTCAGGCTGAGAG	0.667			T	EWSR1	sarcoma																																			Dom	yes		6	6p21.31	5460	"""POU domain, class 5, transcription factor 1"""		M	0													33.0	34.0	33.0					6																	31138112		1511	2706	4217	SO:0001583	missense	5460			Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"""Homeoboxes / POU class"""	9221	protein-coding gene	gene with protein product		164177	"""POU domain class 5, transcription factor 1"""	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.286G>A	6.37:g.31138112C>T	ENSP00000259915:p.Glu96Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.E96K	ENST00000259915.8	37	c.286	CCDS34391.1	6	.	.	.	.	.	.	.	.	.	.	C	13.38	2.221126	0.39201	.	.	ENSG00000204531	ENST00000259915;ENST00000448657	T	0.54071	0.59	4.07	4.07	0.47477	.	0.587358	0.14170	N	0.336793	T	0.35770	0.0943	L	0.56769	1.78	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42916	-0.9423	10	0.62326	D	0.03	.	11.9869	0.53153	0.0:1.0:0.0:0.0	.	96	Q01860	PO5F1_HUMAN	K	96	ENSP00000259915:E96K	ENSP00000259915:E96K	E	-	1	0	POU5F1	31246091	0.223000	0.23663	0.721000	0.30653	0.375000	0.29983	3.552000	0.53705	2.288000	0.76882	0.442000	0.29010	GAG	POU5F1	-	NULL		0.667	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F1	HGNC	protein_coding	OTTHUMT00000076413.4	C	NM_002701		31138112	-1	no_errors	ENST00000259915	ensembl	human	known	70_37	missense	SNP	0.798	T
PPAP2B	8613	genome.wustl.edu	37	1	56977718	56977718	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:56977718G>C	ENST00000371250.3	-	5	1291	c.740C>G	c.(739-741)tCa>tGa	p.S247*	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	247					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CTTGTGGTCTGATACGCGAGA	0.572																																																	0													108.0	98.0	101.0					1																	56977718		2203	4300	6503	SO:0001587	stop_gained	8613			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.740C>G	1.37:g.56977718G>C	ENSP00000360296:p.Ser247*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Nonsense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.S247*	ENST00000371250.3	37	c.740	CCDS604.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.457112	0.99408	.	.	ENSG00000162407	ENST00000371250	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.583	0.95478	0.0:0.0:1.0:0.0	.	.	.	.	X	247	.	ENSP00000360296:S247X	S	-	2	0	PPAP2B	56750306	1.000000	0.71417	0.944000	0.38274	0.817000	0.46193	9.476000	0.97823	2.873000	0.98535	0.563000	0.77884	TCA	PPAP2B	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase		0.572	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	HGNC	protein_coding	OTTHUMT00000022334.2	G	NM_003713		56977718	-1	no_errors	ENST00000371250	ensembl	human	known	70_37	nonsense	SNP	1.000	C
PPAP2B	8613	genome.wustl.edu	37	1	56990200	56990200	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:56990200G>C	ENST00000371250.3	-	3	875	c.324C>G	c.(322-324)atC>atG	p.I108M		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	108					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TCAGGTAATAGATCCGGTAGA	0.483																																																	0													63.0	66.0	65.0					1																	56990200		2203	4300	6503	SO:0001583	missense	8613			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.324C>G	1.37:g.56990200G>C	ENSP00000360296:p.Ile108Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.I108M	ENST00000371250.3	37	c.324	CCDS604.1	1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769591	0.69992	.	.	ENSG00000162407	ENST00000371250	T	0.75154	-0.91	5.71	3.72	0.42706	.	0.049091	0.85682	D	0.000000	T	0.78597	0.4308	L	0.45581	1.43	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	T	0.76637	-0.2886	10	0.35671	T	0.21	.	11.6839	0.51474	0.0:0.1339:0.727:0.1391	.	108	O14495	LPP3_HUMAN	M	108	ENSP00000360296:I108M	ENSP00000360296:I108M	I	-	3	3	PPAP2B	56762788	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.885000	0.28227	1.392000	0.46585	0.591000	0.81541	ATC	PPAP2B	-	superfamily_P_Acid_Pase_2/haloperoxidase		0.483	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	HGNC	protein_coding	OTTHUMT00000022334.2	G	NM_003713		56990200	-1	no_errors	ENST00000371250	ensembl	human	known	70_37	missense	SNP	1.000	C
PPAPDC1B	84513	genome.wustl.edu	37	8	38126363	38126363	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:38126363C>T	ENST00000424479.2	-	2	204				PPAPDC1B_ENST00000529359.1_Intron|PPAPDC1B_ENST00000419686.2_Intron|PPAPDC1B_ENST00000422581.2_Intron|PPAPDC1B_ENST00000530588.1_5'Flank|PPAPDC1B_ENST00000531823.1_5'UTR	NM_001102559.1	NP_001096029.1	Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1B						phospholipid dephosphorylation (GO:0046839)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			GAAGCCGGGTCATGGGGAGGG	0.627																																																	0													21.0	25.0	24.0					8																	38126363		1940	4156	6096	SO:0001627	intron_variant	84513			AF212238	CCDS47841.1, CCDS47842.1, CCDS47843.1	8p12	2005-08-09			ENSG00000147535	ENSG00000147535			25026	protein-coding gene	gene with protein product		610626					Standard	NM_032483		Approved	HTPAP	uc003xlf.4	Q8NEB5	OTTHUMG00000165104	ENST00000424479.2:c.183+36G>A	8.37:g.38126363C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JKF5|Q3KQX6|Q9BY45	RNA	SNP	-	NULL	ENST00000424479.2	37	NULL	CCDS47841.1	8																																																																																			PPAPDC1B	-	-		0.627	PPAPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAPDC1B	HGNC	protein_coding	OTTHUMT00000381832.2	C	NM_032483		38126363	-1	no_errors	ENST00000527793	ensembl	human	putative	70_37	rna	SNP	0.000	T
PPARD	5467	genome.wustl.edu	37	6	35392162	35392162	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:35392162G>C	ENST00000311565.4	+	8	1033	c.684G>C	c.(682-684)tgG>tgC	p.W228C	PPARD_ENST00000360694.3_Missense_Mutation_p.W228C|PPARD_ENST00000444397.1_Missense_Mutation_p.W228C|PPARD_ENST00000448077.2_Missense_Mutation_p.W189C|PPARD_ENST00000337400.2_Missense_Mutation_p.W228C|PPARD_ENST00000540939.1_Missense_Mutation_p.W125C|PPARD_ENST00000418635.2_Missense_Mutation_p.W130C	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	228					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GGCTGGTGTGGAAGCAGTTGG	0.602																																																	0													59.0	55.0	56.0					6																	35392162		2203	4300	6503	SO:0001583	missense	5467			L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.684G>C	6.37:g.35392162G>C	ENSP00000310928:p.Trp228Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,pfscan_Znf_hrmn_rcpt	p.W228C	ENST00000311565.4	37	c.684	CCDS4803.1	6	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544070	0.45280	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.82	5.82	0.92795	Nuclear hormone receptor, ligand-binding (2);	0.059884	0.64402	D	0.000001	T	0.67258	0.2874	L	0.33293	1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;P;D;P	0.71870	0.975;0.893;0.946;0.855	T	0.59815	-0.7383	10	0.20046	T	0.44	.	20.0953	0.97838	0.0:0.0:1.0:0.0	.	130;189;228;228	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	C	189;228;130;228;228;228;125	ENSP00000414372:W189C;ENSP00000353916:W228C;ENSP00000413314:W130C;ENSP00000410837:W228C;ENSP00000310928:W228C;ENSP00000337063:W228C;ENSP00000443759:W125C	ENSP00000310928:W228C	W	+	3	0	PPARD	35500140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.311000	0.72835	2.767000	0.95098	0.655000	0.94253	TGG	PPARD	-	superfamily_Nucl_hormone_rcpt_ligand-bd,prints_1Cnucl_rcpt_B,prints_1Cnucl_rcpt_A		0.602	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARD	HGNC	protein_coding	OTTHUMT00000040288.1	G	NM_006238		35392162	+1	no_errors	ENST00000311565	ensembl	human	known	70_37	missense	SNP	1.000	C
PPCS	79717	genome.wustl.edu	37	1	42922779	42922779	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:42922779G>C	ENST00000372561.3	+	1	515				PPCS_ENST00000372556.3_Intron|ZMYND12_ENST00000372565.3_5'Flank|PPCS_ENST00000472013.1_3'UTR|ZMYND12_ENST00000433602.2_5'Flank|PPCS_ENST00000455780.1_Intron|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000372560.3_Intron	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase						coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGCCTGGAAGCACAGCCTTT	0.552																																																	0													45.0	45.0	45.0					1																	42922779		2024	4176	6200	SO:0001627	intron_variant	79717			AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.508+35G>C	1.37:g.42922779G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KQT2|Q5VVM0	RNA	SNP	-	NULL	ENST00000372561.3	37	NULL	CCDS41311.1	1																																																																																			PPCS	-	-		0.552	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPCS	HGNC	protein_coding	OTTHUMT00000019166.1	G	NM_024664		42922779	+1	no_errors	ENST00000472013	ensembl	human	known	70_37	rna	SNP	0.234	C
PPIL2	23759	genome.wustl.edu	37	22	22035640	22035640	+	Missense_Mutation	SNP	C	C	G	rs369102532		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:22035640C>G	ENST00000335025.8	+	7	439	c.348C>G	c.(346-348)atC>atG	p.I116M	PPIL2_ENST00000406385.1_Missense_Mutation_p.I116M|PPIL2_ENST00000492445.2_Missense_Mutation_p.I116M|PPIL2_ENST00000412327.1_Missense_Mutation_p.I116M|PPIL2_ENST00000456792.2_Missense_Mutation_p.I95M|PPIL2_ENST00000398831.3_Missense_Mutation_p.I116M					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					ACACCCACATCGTGGCTGTGA	0.597																																																	0													163.0	118.0	133.0					22																	22035640		2203	4300	6503	SO:0001583	missense	23759				CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"""U-box domain containing"""	9261	protein-coding gene	gene with protein product	"""U-box domain containing 7"""	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.348C>G	22.37:g.22035640C>G	ENSP00000334553:p.Ile116Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_Ubox_domain,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.I116M	ENST00000335025.8	37	c.348	CCDS13793.1	22	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051950	0.75960	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000458567;ENST00000406385;ENST00000456792	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.24	-3.87	0.04218	.	0.049942	0.85682	D	0.000000	T	0.59838	0.2223	H	0.94620	3.56	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.993;0.989;0.995	T	0.70821	-0.4768	10	0.87932	D	0	.	13.2175	0.59869	0.0:0.2988:0.0:0.7012	.	95;116;116	E7EW80;Q13356-2;Q13356	.;.;PPIL2_HUMAN	M	116;116;116;116;147;116;95	ENSP00000390427:I116M;ENSP00000334553:I116M;ENSP00000381812:I116M;ENSP00000445312:I116M;ENSP00000384299:I116M;ENSP00000396228:I95M	ENSP00000334553:I116M	I	+	3	3	PPIL2	20365640	0.000000	0.05858	0.985000	0.45067	0.937000	0.57800	-2.298000	0.01140	-0.507000	0.06549	-0.291000	0.09656	ATC	PPIL2	-	NULL		0.597	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL2	HGNC	protein_coding	OTTHUMT00000075028.4	C			22035640	+1	no_errors	ENST00000412327	ensembl	human	known	70_37	missense	SNP	0.962	G
PPIP5K2	23262	genome.wustl.edu	37	5	102494886	102494886	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:102494886C>G	ENST00000358359.3	+	17	2283	c.1774C>G	c.(1774-1776)Ctt>Gtt	p.L592V	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L592V|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.L592V|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	592					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TACACCCATTCTTGTTCAAAT	0.348																																																	0													106.0	106.0	106.0					5																	102494886		2203	4300	6503	SO:0001583	missense	23262			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.1774C>G	5.37:g.102494886C>G	ENSP00000351126:p.Leu592Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.L592V	ENST00000358359.3	37	c.1774		5	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852594	0.91355	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.18960	2.19;2.18;2.19	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000005	T	0.55970	0.1954	M	0.91038	3.17	0.80722	D	1	D;D	0.64830	0.994;0.975	D;D	0.63877	0.919;0.919	T	0.65643	-0.6118	10	0.87932	D	0	-16.7215	19.7516	0.96271	0.0:1.0:0.0:0.0	.	592;592	O43314-2;O43314	.;VIP2_HUMAN	V	592	ENSP00000313070:L592V;ENSP00000351126:L592V;ENSP00000416016:L592V	ENSP00000313070:L592V	L	+	1	0	PPIP5K2	102522785	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.017000	0.57167	2.744000	0.94065	0.591000	0.81541	CTT	PPIP5K2	-	pfam_His_Pase_superF_clade-2		0.348	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	HGNC	protein_coding	OTTHUMT00000370487.1	C	NM_015216		102494886	+1	no_errors	ENST00000358359	ensembl	human	known	70_37	missense	SNP	1.000	G
PPP1R12B	4660	genome.wustl.edu	37	1	202471377	202471377	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:202471377C>G	ENST00000608999.1	+	18	2643				PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000391959.3_Intron|PPP1R12B_ENST00000367270.4_Intron|PPP1R12B_ENST00000290419.5_Intron	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTATAGATATCAAGGTACCTG	0.378																																																	0																																										SO:0001627	intron_variant	4660			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2490+5427C>G	1.37:g.202471377C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	RNA	SNP	-	NULL	ENST00000608999.1	37	NULL	CCDS1426.1	1																																																																																			PPP1R12B	-	-		0.378	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	C	NM_032105		202471377	+1	no_errors	ENST00000498070	ensembl	human	known	70_37	rna	SNP	0.000	G
PPP1R13L	10848	genome.wustl.edu	37	19	45895303	45895303	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:45895303G>A	ENST00000418234.2	-	8	1728	c.1650C>T	c.(1648-1650)ctC>ctT	p.L550L	PPP1R13L_ENST00000360957.5_Silent_p.L550L	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	550	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GACGATGGAAGAGGCGGCTGA	0.692																																					Pancreas(61;1447 1663 31419 50578)												0													38.0	46.0	43.0					19																	45895303		2203	4299	6502	SO:0001819	synonymous_variant	10848			AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1650C>T	19.37:g.45895303G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.L550	ENST00000418234.2	37	c.1650	CCDS33050.1	19																																																																																			PPP1R13L	-	NULL		0.692	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPP1R13L	HGNC	protein_coding	OTTHUMT00000457586.1	G	NM_006663		45895303	-1	no_errors	ENST00000360957	ensembl	human	known	70_37	silent	SNP	1.000	A
PPP1R16A	84988	genome.wustl.edu	37	8	145724337	145724337	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:145724337C>T	ENST00000292539.4	+	4	1286	c.369C>T	c.(367-369)ctC>ctT	p.L123L	PPP1R16A_ENST00000435887.1_Silent_p.L123L|CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	123						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGCAGCAGCTCCTGGAGGCTG	0.647																																																	0													66.0	54.0	58.0					8																	145724337		2203	4300	6503	SO:0001819	synonymous_variant	84988				CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.369C>T	8.37:g.145724337C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWM5	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L123	ENST00000292539.4	37	c.369	CCDS6429.1	8	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280784	0.40294	.	.	ENSG00000255182	ENST00000532766	.	.	.	5.0	0.441	0.16577	.	.	.	.	.	T	0.63236	0.2494	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65294	-0.6203	5	0.87932	D	0	.	8.9402	0.35725	0.0:0.2958:0.6058:0.0984	.	.	.	.	K	20	.	ENSP00000435686:E20K	E	-	1	0	CTD-2517M22.14	145695145	0.477000	0.25909	1.000000	0.80357	0.695000	0.40330	-0.282000	0.08445	0.479000	0.27511	0.462000	0.41574	GAG	PPP1R16A	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.647	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16A	HGNC	protein_coding	OTTHUMT00000382459.1	C	NM_032902		145724337	+1	no_errors	ENST00000292539	ensembl	human	known	70_37	silent	SNP	1.000	T
PPP1R3G	648791	genome.wustl.edu	37	6	5086746	5086746	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:5086746G>T	ENST00000405617.2	+	1	1027	c.1027G>T	c.(1027-1029)Gcg>Tcg	p.A343S		NM_001145115.1	NP_001138587.1	B7ZBB8	PP13G_HUMAN	protein phosphatase 1, regulatory subunit 3G	343	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glucose homeostasis (GO:0042593)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)	cytoplasm (GO:0005737)	glycogen binding (GO:2001069)			kidney(2)	2						GGACAACAACGCGGGCGCCAA	0.682																																																	0													9.0	11.0	10.0					6																	5086746		691	1584	2275	SO:0001583	missense	648791				CCDS47366.1	6p25.1	2012-04-17	2011-10-04		ENSG00000219607	ENSG00000219607		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14945	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3G"""			11948623	Standard	NM_001145115		Approved		uc011dia.1	B7ZBB8	OTTHUMG00000014172	ENST00000405617.2:c.1027G>T	6.37:g.5086746G>T	ENSP00000393832:p.Ala343Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.A343S	ENST00000405617.2	37	c.1027	CCDS47366.1	6	.	.	.	.	.	.	.	.	.	.	G	5.601	0.295681	0.10622	.	.	ENSG00000219607	ENST00000405617	T	0.62788	-0.0	4.44	-1.05	0.10036	Putative phosphatase regulatory subunit (2);	.	.	.	.	T	0.18341	0.0440	N	0.12182	0.205	0.18873	N	0.999981	B	0.21381	0.055	B	0.21151	0.033	T	0.35500	-0.9786	9	0.11794	T	0.64	.	13.6589	0.62354	0.0:0.0:0.2955:0.7045	.	343	B7ZBB8	PP13G_HUMAN	S	343	ENSP00000393832:A343S	ENSP00000393832:A343S	A	+	1	0	PPP1R3G	5031745	0.169000	0.23002	0.070000	0.20053	0.625000	0.37756	0.535000	0.23114	-0.465000	0.06953	0.561000	0.74099	GCG	PPP1R3G	-	pfam_CBM_21,pfscan_CBM_21		0.682	PPP1R3G-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PPP1R3G	HGNC	protein_coding	OTTHUMT00000039740.3	G	NM_001145115		5086746	+1	no_errors	ENST00000405617	ensembl	human	novel	70_37	missense	SNP	0.275	T
PPP1R8	5511	genome.wustl.edu	37	1	28178052	28178052	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:28178052C>T	ENST00000311772.5	+	0	2209				PPP1R8_ENST00000486634.1_3'UTR|AL109927.1_ENST00000601459.1_5'Flank|PPP1R8_ENST00000373931.4_3'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8						cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGTGCAGGCTGTGAATTTG	0.408																																																	0													18.0	16.0	17.0					1																	28178052		876	1991	2867	SO:0001624	3_prime_UTR_variant	5511			AF061959	CCDS311.1, CCDS312.1, CCDS313.1	1p35.3	2012-04-17	2011-10-04		ENSG00000117751	ENSG00000117751		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9296	protein-coding gene	gene with protein product	"""RNase E"", ""nuclear subunit of PP-1"", ""nuclear inhibitor of protein phosphatase-1"", ""activator of RNA decay"", ""protein phosphatase 1 regulatory subunit 8"""	602636	"""protein phosphatase 1, regulatory (inhibitor) subunit 8"""			7524097, 8473324	Standard	NM_014110		Approved	ard-1, NIPP-1, PRO2047, ARD1, NIPP1	uc001bov.2	Q12972	OTTHUMG00000003734	ENST00000311772.5:c.*1095C>T	1.37:g.28178052C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	RNA	SNP	-	NULL	ENST00000311772.5	37	NULL	CCDS311.1	1																																																																																			PPP1R8	-	-		0.408	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R8	HGNC	protein_coding	OTTHUMT00000010528.1	C	NM_014110		28178052	+1	no_errors	ENST00000486634	ensembl	human	putative	70_37	rna	SNP	0.050	T
PPP2R2A	5520	genome.wustl.edu	37	8	26227787	26227787	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:26227787G>A	ENST00000380737.3	+	10	1531	c.1202G>A	c.(1201-1203)gGc>gAc	p.G401D	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.G411D	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	401					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TGTGCAAGTGGCAAGCGAAAG	0.448																																																	0													79.0	77.0	78.0					8																	26227787		2203	4300	6503	SO:0001583	missense	5520			M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1202G>A	8.37:g.26227787G>A	ENSP00000370113:p.Gly401Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.G401D	ENST00000380737.3	37	c.1202	CCDS34867.1	8	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645740	0.47258	.	.	ENSG00000221914	ENST00000380737;ENST00000524169;ENST00000315985	T;T;T	0.48201	1.41;0.82;1.4	5.25	5.25	0.73442	WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.70833	0.3269	M	0.77103	2.36	0.80722	D	1	B;B;D	0.76494	0.002;0.002;0.999	B;B;D	0.74674	0.003;0.007;0.984	T	0.72893	-0.4154	10	0.66056	D	0.02	-9.9979	19.3941	0.94598	0.0:0.0:1.0:0.0	.	411;401;402	B4E1T7;P63151;Q6ZP32	.;2ABA_HUMAN;.	D	401;180;411	ENSP00000370113:G401D;ENSP00000430320:G180D;ENSP00000325074:G411D	ENSP00000325074:G411D	G	+	2	0	PPP2R2A	26283704	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.165000	0.94761	2.885000	0.99019	0.655000	0.94253	GGC	PPP2R2A	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55		0.448	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2A	HGNC	protein_coding	OTTHUMT00000375954.2	G	NM_002717		26227787	+1	no_errors	ENST00000380737	ensembl	human	known	70_37	missense	SNP	1.000	A
PPP2R2C	5522	genome.wustl.edu	37	4	6382809	6382809	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:6382809G>C	ENST00000382599.4	-	2	299	c.83C>G	c.(82-84)tCt>tGt	p.S28C	PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.S11C|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.S21C|PPP2R2C_ENST00000335585.5_Missense_Mutation_p.S28C|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.S21C			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	28					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CTCAACGGTAGAGATGATGTC	0.632																																																	0													45.0	35.0	39.0					4																	6382809		2202	4300	6502	SO:0001583	missense	5522			AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.83C>G	4.37:g.6382809G>C	ENSP00000372042:p.Ser28Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.S28C	ENST00000382599.4	37	c.83		4	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896537	0.72639	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	4.26	4.26	0.50523	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63965	0.2556	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.74460	-0.3658	10	0.87932	D	0	-26.9624	16.2135	0.82186	0.0:0.0:1.0:0.0	.	21;124;28;11;28	B7Z3Y1;Q59GC6;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;.;2ABG_HUMAN;.;.	C	28;21;11;28;21	ENSP00000335083:S28C;ENSP00000423649:S21C;ENSP00000422374:S11C;ENSP00000372042:S28C;ENSP00000425247:S21C	ENSP00000335083:S28C	S	-	2	0	PPP2R2C	6433710	1.000000	0.71417	0.961000	0.40146	0.566000	0.35808	8.754000	0.91642	2.372000	0.80975	0.561000	0.74099	TCT	PPP2R2C	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55		0.632	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	PPP2R2C	HGNC	protein_coding	OTTHUMT00000206889.2	G	NM_181876		6382809	-1	no_errors	ENST00000335585	ensembl	human	known	70_37	missense	SNP	1.000	C
PPP4R1	9989	genome.wustl.edu	37	18	9557315	9557315	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:9557315C>T	ENST00000400556.3	-	15	2167	c.2094G>A	c.(2092-2094)ttG>ttA	p.L698L	PPP4R1_ENST00000400555.3_Silent_p.L681L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	698					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						CTGCAGCTGTCAATTGATCTC	0.388																																					Melanoma(188;1232 2082 5061 11948 35994)												0													154.0	149.0	150.0					18																	9557315		1852	4093	5945	SO:0001819	synonymous_variant	9989			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2094G>A	18.37:g.9557315C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q99774|Q9UNQ7	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L698	ENST00000400556.3	37	c.2094	CCDS42412.1	18																																																																																			PPP4R1	-	superfamily_ARM-type_fold		0.388	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP4R1	HGNC	protein_coding	OTTHUMT00000268571.1	C	NM_005134		9557315	-1	no_errors	ENST00000400556	ensembl	human	known	70_37	silent	SNP	1.000	T
PPP4R1L	55370	genome.wustl.edu	37	20	56818699	56818699	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:56818699C>T	ENST00000334187.8	-	0	1499							Q9P1A2	PP4RL_HUMAN	protein phosphatase 4, regulatory subunit 1-like																		GGCTTGCTCTCAGCTTCATTC	0.488																																																	0																																										SO:0001624	3_prime_UTR_variant	55370			AF119843		20q13.32	2013-03-28			ENSG00000124224	ENSG00000124224			15755	other	unknown				C20orf192		14702039, 11780052	Standard	NR_003505		Approved	bA196N14.4, bA196N14.5	uc002xyy.1	Q9P1A2	OTTHUMG00000032838	ENST00000334187.8:c.*238G>A	20.37:g.56818699C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRM4|Q96LY6|Q9BZ17|Q9BZ18	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E29K	ENST00000334187.8	37	c.85		20																																																																																			PPP4R1L	-	NULL		0.488	PPP4R1L-201	KNOWN	basic|appris_candidate_longest	protein_coding	PPP4R1L	HGNC	protein_coding		C	NR_003505		56818699	-1	no_errors	ENST00000497138	ensembl	human	known	70_37	missense	SNP	0.000	T
PPP4R1L	55370	genome.wustl.edu	37	20	56818705	56818705	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:56818705C>T	ENST00000334187.8	-	0	1493							Q9P1A2	PP4RL_HUMAN	protein phosphatase 4, regulatory subunit 1-like																		CTCTCAGCTTCATTCACGCAG	0.483																																																	0																																										SO:0001624	3_prime_UTR_variant	55370			AF119843		20q13.32	2013-03-28			ENSG00000124224	ENSG00000124224			15755	other	unknown				C20orf192		14702039, 11780052	Standard	NR_003505		Approved	bA196N14.4, bA196N14.5	uc002xyy.1	Q9P1A2	OTTHUMG00000032838	ENST00000334187.8:c.*232G>A	20.37:g.56818705C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRM4|Q96LY6|Q9BZ17|Q9BZ18	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E27K	ENST00000334187.8	37	c.79		20																																																																																			PPP4R1L	-	NULL		0.483	PPP4R1L-201	KNOWN	basic|appris_candidate_longest	protein_coding	PPP4R1L	HGNC	protein_coding		C	NR_003505		56818705	-1	no_errors	ENST00000497138	ensembl	human	known	70_37	missense	SNP	0.005	T
PPP6R1	22870	genome.wustl.edu	37	19	55743238	55743238	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:55743238G>A	ENST00000412770.2	-	19	2804	c.2238C>T	c.(2236-2238)ctC>ctT	p.L746L	AC010327.1_ENST00000581390.1_RNA|TMEM86B_ENST00000327042.4_5'Flank|PPP6R1_ENST00000587283.1_Silent_p.L746L	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	746	Pro-rich.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						GGGGCACACTGAGGGGCCCCT	0.682																																																	0													10.0	12.0	12.0					19																	55743238		1896	4089	5985	SO:0001819	synonymous_variant	22870			AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.2238C>T	19.37:g.55743238G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Silent	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.L746	ENST00000412770.2	37	c.2238	CCDS46186.1	19																																																																																			PPP6R1	-	NULL		0.682	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP6R1	HGNC	protein_coding	OTTHUMT00000452663.1	G	NM_014931		55743238	-1	no_errors	ENST00000412770	ensembl	human	known	70_37	silent	SNP	0.000	A
PPP6R2	9701	genome.wustl.edu	37	22	50878267	50878267	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:50878267G>A	ENST00000216061.5	+	21	2636	c.2266G>A	c.(2266-2268)Gac>Aac	p.D756N	PPP6R2_ENST00000359139.3_Missense_Mutation_p.D730N|PPP6R2_ENST00000395744.3_Missense_Mutation_p.D729N|PPP6R2_ENST00000395741.3_Missense_Mutation_p.D730N			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	756						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CAAGTTCACTGACTTCCAACC	0.622																																																	0													76.0	72.0	74.0					22																	50878267		2202	4300	6502	SO:0001583	missense	9701			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.2266G>A	22.37:g.50878267G>A	ENSP00000216061:p.Asp756Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.D756N	ENST00000216061.5	37	c.2266		22	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261212	0.80246	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.04	5.04	0.67666	.	0.093853	0.64402	D	0.000001	T	0.65471	0.2694	M	0.67953	2.075	0.43238	D	0.995141	D;D;D;P;D;P	0.89917	1.0;1.0;0.999;0.929;1.0;0.929	D;D;D;P;D;P	0.74348	0.962;0.983;0.962;0.614;0.983;0.614	T	0.60403	-0.7270	10	0.21540	T	0.41	-40.804	17.5101	0.87758	0.0:0.0:1.0:0.0	.	289;756;756;730;729;730	F2Z3M7;O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;.;PP6R2_HUMAN;.;.;.	N	730;730;729;756	ENSP00000352051:D730N;ENSP00000379090:D730N;ENSP00000379093:D729N;ENSP00000216061:D756N	ENSP00000216061:D756N	D	+	1	0	PPP6R2	49225133	1.000000	0.71417	0.986000	0.45419	0.910000	0.53928	5.757000	0.68766	2.504000	0.84457	0.561000	0.74099	GAC	PPP6R2	-	NULL		0.622	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1	G	NM_014678		50878267	+1	no_errors	ENST00000216061	ensembl	human	known	70_37	missense	SNP	0.999	A
PQBP1	10084	genome.wustl.edu	37	X	48758478	48758478	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:48758478G>C	ENST00000376563.1	+	3	279	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	PQBP1_ENST00000218224.4_Missense_Mutation_p.E27Q|PQBP1_ENST00000376566.4_Missense_Mutation_p.E27Q|PQBP1_ENST00000376548.5_Missense_Mutation_p.E27Q|PQBP1_ENST00000396763.1_Missense_Mutation_p.E27Q|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000447146.2_Missense_Mutation_p.E27Q|PQBP1_ENST00000247140.4_Missense_Mutation_p.E27Q	NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1	NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	27					alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						ACCAGAGGAAGAGATCATTGC	0.542																																																	0													83.0	55.0	64.0					X																	48758478		2202	4300	6502	SO:0001583	missense	10084			AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"""Sutherland-Haan X-linked mental retardation syndrome"", ""mental retardation, X-linked 55"", ""mental retardation, X-linked 2 (non-dysmorphic)"""	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	ENST00000376563.1:c.79G>C	X.37:g.48758478G>C	ENSP00000365747:p.Glu27Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.E27Q	ENST00000376563.1	37	c.79	CCDS14309.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.656746|4.656746	0.88154|0.88154	.|.	.|.	ENSG00000102103|ENSG00000102103	ENST00000376563;ENST00000376566;ENST00000447146;ENST00000376548;ENST00000247140;ENST00000218224;ENST00000396763;ENST00000443648|ENST00000456306	T;D;T;D;T;T;D|.	0.81739|.	-1.48;-1.5;-1.48;-1.5;-1.48;-1.48;-1.53|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76169|0.76169	0.3950|0.3950	M|M	0.80616|0.80616	2.505|2.505	0.58432|0.58432	D|D	0.999999|0.999999	D;D;B;D;D|.	0.89917|.	0.968;0.998;0.376;1.0;0.993|.	D;D;B;D;D|.	0.91635|.	0.969;0.937;0.094;0.999;0.979|.	T|T	0.77885|0.77885	-0.2421|-0.2421	10|5	0.62326|.	D|.	0.03|.	-41.775|-41.775	14.5182|14.5182	0.67833|0.67833	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	27;27;27;27;27|.	O60828-5;O60828-2;O60828-4;O60828-3;O60828|.	.;.;.;.;PQBP1_HUMAN|.	Q|N	27|15	ENSP00000365747:E27Q;ENSP00000365750:E27Q;ENSP00000391759:E27Q;ENSP00000247140:E27Q;ENSP00000218224:E27Q;ENSP00000379985:E27Q;ENSP00000414861:E27Q|.	ENSP00000218224:E27Q|.	E|K	+|+	1|3	0|2	PQBP1|PQBP1	48643422|48643422	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	8.275000|8.275000	0.89892|0.89892	2.403000|2.403000	0.81681|0.81681	0.600000|0.600000	0.82982|0.82982	GAG|AAG	PQBP1	-	NULL		0.542	PQBP1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	PQBP1	HGNC	protein_coding	OTTHUMT00000060777.1	G	NM_001032381.1		48758478	+1	no_errors	ENST00000218224	ensembl	human	known	70_37	missense	SNP	1.000	C
PRDM1	639	genome.wustl.edu	37	6	106555001	106555001	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:106555001G>A	ENST00000369096.4	+	7	2352	c.2118G>A	c.(2116-2118)ctG>ctA	p.L706L	PRDM1_ENST00000369089.3_Silent_p.L572L|PRDM1_ENST00000369091.2_Silent_p.L670L	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	706					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AGGTTCACCTGAAAGGGAACT	0.562			"""D, N, Mis, F, S"""		DLBCL																																			Rec	yes		6	6q21	639	"""PR domain containing 1, with ZNF domain"""		L	0													151.0	170.0	164.0					6																	106555001		2203	4300	6503	SO:0001819	synonymous_variant	639				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.2118G>A	6.37:g.106555001G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2REA6|E1P5E0|Q86WM7	Silent	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2	p.L706	ENST00000369096.4	37	c.2118	CCDS5054.2	6																																																																																			PRDM1	-	smart_Znf_C2H2-like,pirsf_Znf_PRDM1		0.562	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM1	HGNC	protein_coding	OTTHUMT00000041661.3	G			106555001	+1	no_errors	ENST00000369096	ensembl	human	known	70_37	silent	SNP	0.998	A
PRDM11	56981	genome.wustl.edu	37	11	45241295	45241295	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:45241295C>T	ENST00000530656.1	+	6	831	c.831C>T	c.(829-831)cgC>cgT	p.R277R	PRDM11_ENST00000424263.2_Silent_p.R243R|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000263765.4_Silent_p.R277R|PRDM11_ENST00000528980.1_3'UTR			Q9NQV5	PRD11_HUMAN	PR domain containing 11	277							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCATTCACCGCAACCTGGCCA	0.612																																					NSCLC(118;1511 1736 6472 36603 43224)												0													48.0	34.0	39.0					11																	45241295		2203	4299	6502	SO:0001819	synonymous_variant	56981			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.831C>T	11.37:g.45241295C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N9F1	Silent	SNP	pfscan_SET_dom	p.R277	ENST00000530656.1	37	c.831		11																																																																																			PRDM11	-	NULL		0.612	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	PRDM11	HGNC	protein_coding	OTTHUMT00000389928.1	C	NM_020229		45241295	+1	no_errors	ENST00000263765	ensembl	human	known	70_37	silent	SNP	1.000	T
PRICKLE4	29964	genome.wustl.edu	37	6	41752606	41752606	+	Intron	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:41752606C>A	ENST00000394260.1	+	2	120				TOMM6_ENST00000398884.3_5'Flank|PRICKLE4_ENST00000359201.5_Intron|PRICKLE4_ENST00000458694.1_Intron|PRICKLE4_ENST00000394259.1_Intron|TOMM6_ENST00000398881.3_5'Flank|PRICKLE4_ENST00000394263.1_Intron|PRICKLE4_ENST00000463606.1_3'UTR			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)							nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCCCTTTTTCCTCCAACCAA	0.512																																																	0																																										SO:0001627	intron_variant	29964			AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"""chromosome 6 open reading frame 49"""	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.121-67C>A	6.37:g.41752606C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	RNA	SNP	-	NULL	ENST00000394260.1	37	NULL		6																																																																																			PRICKLE4	-	-		0.512	PRICKLE4-007	KNOWN	basic	protein_coding	PRICKLE4	HGNC	protein_coding	OTTHUMT00000303948.1	C	NM_013397		41752606	+1	no_errors	ENST00000463606	ensembl	human	putative	70_37	rna	SNP	0.000	A
PRIM2	5558	genome.wustl.edu	37	6	57512726	57512726	+	3'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:57512726C>G	ENST00000389488.2	+	0	1641				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CCTTTTTCCTCAATAGCCTGT	0.388																																																	0													179.0	177.0	178.0					6																	57512726		1910	4137	6047	SO:0001624	3_prime_UTR_variant	5558				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1638C>G	6.37:g.57512726C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			PRIM2	-	-		0.388	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	HGNC	protein_coding	OTTHUMT00000043468.3	C	NM_000947		57512726	+1	no_errors	ENST00000389488	ensembl	human	known	70_37	rna	SNP	0.106	G
PRKACB	5567	genome.wustl.edu	37	1	84644606	84644606	+	Intron	SNP	A	A	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:84644606A>C	ENST00000370689.2	+	2	310				PRKACB_ENST00000370682.3_Intron|PRKACB_ENST00000394838.2_Intron|PRKACB_ENST00000370680.1_Intron|PRKACB_ENST00000394839.2_Intron|PRKACB_ENST00000370685.3_Intron|PRKACB_ENST00000470673.1_Intron|PRKACB_ENST00000370688.3_Intron	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TTTCAGGAACAGAATTTTTGT	0.284																																																	0																																										SO:0001627	intron_variant	5567			BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.47-254A>C	1.37:g.84644606A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	RNA	SNP	-	NULL	ENST00000370689.2	37	NULL	CCDS691.1	1																																																																																			PRKACB	-	-		0.284	PRKACB-001	KNOWN	basic|CCDS	protein_coding	PRKACB	HGNC	protein_coding	OTTHUMT00000027641.1	A	NM_182948		84644606	+1	no_errors	ENST00000467507	ensembl	human	known	70_37	rna	SNP	0.002	C
PRKCA	5578	genome.wustl.edu	37	17	64783006	64783006	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:64783006G>A	ENST00000413366.3	+	15	1653	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	MIR634_ENST00000385208.1_RNA	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	543	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	TGGTGAAGATGAAGACGAGCT	0.428																																																	0													110.0	96.0	101.0					17																	64783006		2203	4300	6503	SO:0001583	missense	5578				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1627G>A	17.37:g.64783006G>A	ENSP00000408695:p.Glu543Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.E543K	ENST00000413366.3	37	c.1627	CCDS11664.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.209300	0.95069	.	.	ENSG00000154229	ENST00000413366	T	0.65364	-0.15	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	N	0.11818	0.18	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74003	-0.3804	10	0.87932	D	0	.	19.7888	0.96450	0.0:0.0:1.0:0.0	.	543	P17252	KPCA_HUMAN	K	543	ENSP00000408695:E543K	ENSP00000408695:E543K	E	+	1	0	PRKCA	62213468	1.000000	0.71417	0.661000	0.29709	0.590000	0.36582	9.371000	0.97162	2.662000	0.90505	0.655000	0.94253	GAA	PRKCA	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom		0.428	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCA	HGNC	protein_coding	OTTHUMT00000446976.1	G			64783006	+1	no_errors	ENST00000413366	ensembl	human	known	70_37	missense	SNP	1.000	A
PRKCI	5584	genome.wustl.edu	37	3	169953073	169953073	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:169953073G>C	ENST00000295797.4	+	2	462	c.157G>C	c.(157-159)Gag>Cag	p.E53Q		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	53	OPR.|Regulatory domain.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CCTTTGCAATGAGGTTCGAGA	0.393																																																	0													107.0	99.0	101.0					3																	169953073		2203	4300	6503	SO:0001583	missense	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.157G>C	3.37:g.169953073G>C	ENSP00000295797:p.Glu53Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNQ4|Q8WW06	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.E53Q	ENST00000295797.4	37	c.157	CCDS3212.2	3	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785188	0.90282	.	.	ENSG00000163558	ENST00000295797	T	0.53206	0.63	5.43	5.43	0.79202	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	M	0.62209	1.925	0.80722	D	1	P	0.43885	0.82	P	0.54401	0.751	T	0.58691	-0.7592	9	.	.	.	.	19.247	0.93906	0.0:0.0:1.0:0.0	.	53	P41743	KPCI_HUMAN	Q	53	ENSP00000295797:E53Q	.	E	+	1	0	PRKCI	171435767	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.306000	0.72810	2.516000	0.84829	0.655000	0.94253	GAG	PRKCI	-	pfam_OPR_PB1,smart_OPR_PB1,pirsf_PKC_zeta		0.393	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCI	HGNC	protein_coding	OTTHUMT00000316866.3	G	NM_002740		169953073	+1	no_errors	ENST00000295797	ensembl	human	known	70_37	missense	SNP	1.000	C
PRKCI	5584	genome.wustl.edu	37	3	170011255	170011255	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:170011255C>T	ENST00000295797.4	+	14	1681	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	459	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	GTTGGGAGCTCCGATAACCCT	0.408																																																	0													118.0	107.0	111.0					3																	170011255		2203	4300	6503	SO:0001583	missense	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1376C>T	3.37:g.170011255C>T	ENSP00000295797:p.Ser459Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNQ4|Q8WW06	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.S459F	ENST00000295797.4	37	c.1376	CCDS3212.2	3	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572490	0.86542	.	.	ENSG00000163558	ENST00000295797	T	0.63255	-0.03	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	L	0.50919	1.6	0.80722	D	1	D	0.56968	0.978	P	0.60682	0.878	T	0.70883	-0.4751	9	.	.	.	.	18.5633	0.91108	0.0:1.0:0.0:0.0	.	459	P41743	KPCI_HUMAN	F	459	ENSP00000295797:S459F	.	S	+	2	0	PRKCI	171493949	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.694000	0.68272	2.459000	0.83118	0.650000	0.86243	TCC	PRKCI	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_cat_dom		0.408	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCI	HGNC	protein_coding	OTTHUMT00000316866.3	C	NM_002740		170011255	+1	no_errors	ENST00000295797	ensembl	human	known	70_37	missense	SNP	1.000	T
PRKDC	5591	genome.wustl.edu	37	8	48751794	48751794	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:48751794C>T	ENST00000314191.2	-	57	7521	c.7465G>A	c.(7465-7467)Gag>Aag	p.E2489K	PRKDC_ENST00000338368.3_Missense_Mutation_p.E2489K|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2490	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TTATCTGTCTCACTTTCTGGA	0.393								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													104.0	91.0	95.0					8																	48751794		1849	4098	5947	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7465G>A	8.37:g.48751794C>T	ENSP00000313420:p.Glu2489Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E2489K	ENST00000314191.2	37	c.7465		8	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046868	0.36085	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02345	4.4;4.33	5.2	3.38	0.38709	Armadillo-type fold (1);	0.293608	0.33572	N	0.004767	T	0.01940	0.0061	N	0.08118	0	0.20403	N	0.99991	B;B	0.17038	0.02;0.002	B;B	0.15870	0.014;0.007	T	0.45234	-0.9275	10	0.48119	T	0.1	.	10.8736	0.46899	0.0:0.143:0.7109:0.1461	.	2489;2490	E7EUY0;P78527	.;PRKDC_HUMAN	K	2489	ENSP00000313420:E2489K;ENSP00000345182:E2489K	ENSP00000313420:E2489K	E	-	1	0	PRKDC	48914347	1.000000	0.71417	0.841000	0.33234	0.766000	0.43426	4.206000	0.58473	0.555000	0.29079	-0.378000	0.06908	GAG	PRKDC	-	superfamily_ARM-type_fold		0.393	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		C	NM_001081640		48751794	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	0.994	T
PRKDC	5591	genome.wustl.edu	37	8	48839863	48839863	+	Silent	SNP	C	C	T	rs561791968		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:48839863C>T	ENST00000314191.2	-	21	2366	c.2310G>A	c.(2308-2310)ctG>ctA	p.L770L	PRKDC_ENST00000338368.3_Silent_p.L770L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	770					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CTAGAGCATTCAGGCCTACTT	0.408								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													86.0	79.0	81.0					8																	48839863		1869	4098	5967	SO:0001819	synonymous_variant	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2310G>A	8.37:g.48839863C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L770	ENST00000314191.2	37	c.2310		8																																																																																			PRKDC	-	superfamily_ARM-type_fold		0.408	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		C	NM_001081640		48839863	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	silent	SNP	1.000	T
PRKRIP1	79706	genome.wustl.edu	37	7	102006471	102006471	+	5'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:102006471C>G	ENST00000496391.1	+	0	585				RP11-163E9.2_ENST00000492837.1_RNA			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)						negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|lung(4)|ovary(1)	6						CTAGGTCTATCAGCCACAGTC	0.448																																																	0																																										SO:0001623	5_prime_UTR_variant	79706			AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"""Zinc fingers, C2H2-type"", ""-"""	21894	protein-coding gene	gene with protein product	"""likely ortholog of mouse C114 dsRNA-binding protein"", ""KRAB box domain containing 3"""					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	ENST00000496391.1:c.-726C>G	7.37:g.102006471C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGM2|Q8NDM6|Q96CF8	RNA	SNP	-	NULL	ENST00000496391.1	37	NULL	CCDS34714.1	7																																																																																			PRKRIP1	-	-		0.448	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKRIP1	HGNC	protein_coding	OTTHUMT00000349489.1	C	NM_024653		102006471	+1	no_errors	ENST00000469763	ensembl	human	known	70_37	rna	SNP	0.003	G
PRKRIP1	79706	genome.wustl.edu	37	7	102065520	102065520	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:102065520G>A	ENST00000496391.1	+	10	1827	c.517G>A	c.(517-519)Gag>Aag	p.E173K	PRKRIP1_ENST00000462601.1_Missense_Mutation_p.E116K|PRKRIP1_ENST00000354783.4_Missense_Mutation_p.G113E|PRKRIP1_ENST00000482465.1_3'UTR|RP11-514P8.2_ENST00000468165.1_RNA|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.E173K			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	173	Poly-Glu.				negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|lung(4)|ovary(1)	6						TGGAACAGAGGAGGAGGAGGA	0.572																																																	0													54.0	51.0	52.0					7																	102065520		2203	4300	6503	SO:0001583	missense	79706			AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"""Zinc fingers, C2H2-type"", ""-"""	21894	protein-coding gene	gene with protein product	"""likely ortholog of mouse C114 dsRNA-binding protein"", ""KRAB box domain containing 3"""					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	ENST00000496391.1:c.517G>A	7.37:g.102065520G>A	ENSP00000419270:p.Glu173Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGM2|Q8NDM6|Q96CF8	Missense_Mutation	SNP	pfam_DUF1168	p.E173K	ENST00000496391.1	37	c.517	CCDS34714.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.19|12.19	1.862757|1.862757	0.32884|0.32884	.|.	.|.	ENSG00000128563|ENSG00000128563	ENST00000496391;ENST00000462601;ENST00000397912|ENST00000354783	T;T;T|T	0.42900|0.61980	0.96;0.96;0.96|0.06	3.3|3.3	3.3|3.3	0.37823|0.37823	.|.	0.189796|.	0.43579|.	N|.	0.000544|.	T|T	0.54175|0.54175	0.1842|0.1842	L|L	0.43152|0.43152	1.355|1.355	0.24192|0.24192	N|N	0.995549|0.995549	D;D|P	0.57257|0.50443	0.979;0.979|0.935	D;D|B	0.71414|0.41466	0.973;0.973|0.358	T|T	0.50065|0.50065	-0.8871|-0.8871	10|9	0.29301|0.48119	T|T	0.29|0.1	-7.6036|-7.6036	12.4081|12.4081	0.55451|0.55451	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	116;173|113	E9PC43;Q9H875|B4DGM2	.;PKRI1_HUMAN|.	K|E	173;116;173|113	ENSP00000419270:E173K;ENSP00000420136:E116K;ENSP00000381010:E173K|ENSP00000346837:G113E	ENSP00000381010:E173K|ENSP00000346837:G113E	E|G	+|+	1|2	0|0	PRKRIP1|PRKRIP1	101852525|101852525	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.109000|0.109000	0.19521|0.19521	3.616000|3.616000	0.54174|0.54174	2.146000|2.146000	0.66826|0.66826	0.561000|0.561000	0.74099|0.74099	GAG|GGA	PRKRIP1	-	pfam_DUF1168		0.572	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKRIP1	HGNC	protein_coding	OTTHUMT00000349489.1	G	NM_024653		102065520	+1	no_errors	ENST00000397912	ensembl	human	known	70_37	missense	SNP	1.000	A
PRKRIP1	79706	genome.wustl.edu	37	7	102065730	102065730	+	3'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:102065730G>C	ENST00000496391.1	+	0	2037				PRKRIP1_ENST00000462601.1_3'UTR|PRKRIP1_ENST00000354783.4_3'UTR|PRKRIP1_ENST00000482465.1_3'UTR|RP11-514P8.2_ENST00000468165.1_RNA|PRKRIP1_ENST00000397912.3_3'UTR			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)						negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|lung(4)|ovary(1)	6						TTGGGAGCCTGAGGGGCCATC	0.597																																																	0																																										SO:0001624	3_prime_UTR_variant	79706			AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"""Zinc fingers, C2H2-type"", ""-"""	21894	protein-coding gene	gene with protein product	"""likely ortholog of mouse C114 dsRNA-binding protein"", ""KRAB box domain containing 3"""					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	ENST00000496391.1:c.*172G>C	7.37:g.102065730G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGM2|Q8NDM6|Q96CF8	RNA	SNP	-	NULL	ENST00000496391.1	37	NULL	CCDS34714.1	7																																																																																			PRKRIP1	-	-		0.597	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKRIP1	HGNC	protein_coding	OTTHUMT00000349489.1	G	NM_024653		102065730	+1	no_errors	ENST00000469763	ensembl	human	known	70_37	rna	SNP	0.032	C
PRKRIP1	79706	genome.wustl.edu	37	7	102065804	102065804	+	3'UTR	SNP	G	G	C	rs149879339	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:102065804G>C	ENST00000496391.1	+	0	2111				PRKRIP1_ENST00000462601.1_3'UTR|PRKRIP1_ENST00000354783.4_3'UTR|PRKRIP1_ENST00000482465.1_3'UTR|RP11-514P8.2_ENST00000468165.1_RNA|PRKRIP1_ENST00000397912.3_3'UTR			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)						negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|lung(4)|ovary(1)	6						GGGGGACAGAGAGCCTCACCT	0.522																																																	0																																										SO:0001624	3_prime_UTR_variant	79706			AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"""Zinc fingers, C2H2-type"", ""-"""	21894	protein-coding gene	gene with protein product	"""likely ortholog of mouse C114 dsRNA-binding protein"", ""KRAB box domain containing 3"""					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	ENST00000496391.1:c.*246G>C	7.37:g.102065804G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGM2|Q8NDM6|Q96CF8	RNA	SNP	-	NULL	ENST00000496391.1	37	NULL	CCDS34714.1	7																																																																																			PRKRIP1	-	-		0.522	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKRIP1	HGNC	protein_coding	OTTHUMT00000349489.1	G	NM_024653		102065804	+1	no_errors	ENST00000469763	ensembl	human	known	70_37	rna	SNP	0.003	C
PRKRIP1	79706	genome.wustl.edu	37	7	102066384	102066384	+	3'UTR	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:102066384G>T	ENST00000496391.1	+	0	2691				PRKRIP1_ENST00000482465.1_3'UTR|RP11-514P8.2_ENST00000468165.1_RNA|PRKRIP1_ENST00000397912.3_3'UTR			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)						negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|lung(4)|ovary(1)	6						AGAGAGGCGGGACTGGGTCAA	0.617																																																	0																																										SO:0001624	3_prime_UTR_variant	79706			AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"""Zinc fingers, C2H2-type"", ""-"""	21894	protein-coding gene	gene with protein product	"""likely ortholog of mouse C114 dsRNA-binding protein"", ""KRAB box domain containing 3"""					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	ENST00000496391.1:c.*826G>T	7.37:g.102066384G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGM2|Q8NDM6|Q96CF8	RNA	SNP	-	NULL	ENST00000496391.1	37	NULL	CCDS34714.1	7																																																																																			PRKRIP1	-	-		0.617	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKRIP1	HGNC	protein_coding	OTTHUMT00000349489.1	G	NM_024653		102066384	+1	no_errors	ENST00000482465	ensembl	human	known	70_37	rna	SNP	0.004	T
PROCA1	147011	genome.wustl.edu	37	17	27037975	27037975	+	5'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:27037975G>A	ENST00000579650.1	-	0	342				PROCA1_ENST00000301039.2_Intron|PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000439862.3_5'UTR			Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1						lipid catabolic process (GO:0016042)		calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GTGGGCACCAGAGCAGCCGAA	0.592																																																	0																																										SO:0001623	5_prime_UTR_variant	147011			BC029574	CCDS11239.1	17q11.2	2009-04-20	2009-04-20		ENSG00000167525	ENSG00000167525			28600	protein-coding gene	gene with protein product	"""proline-rich cyclin A1-interacting protein"""					15159402	Standard	NM_152465		Approved	MGC39650	uc002hca.1	Q8NCQ7	OTTHUMG00000132682	ENST00000579650.1:c.-665C>T	17.37:g.27037975G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DX95|G5E9R8	RNA	SNP	-	NULL	ENST00000579650.1	37	NULL		17																																																																																			PROCA1	-	-		0.592	PROCA1-003	KNOWN	basic	processed_transcript	PROCA1	HGNC	protein_coding	OTTHUMT00000255971.3	G	NM_152465		27037975	-1	no_errors	ENST00000422880	ensembl	human	known	70_37	rna	SNP	0.000	A
PROCA1	147011	genome.wustl.edu	37	17	27037983	27037983	+	5'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:27037983G>A	ENST00000579650.1	-	0	334				PROCA1_ENST00000301039.2_Intron|PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000439862.3_5'UTR			Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1						lipid catabolic process (GO:0016042)		calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CAGAGCAGCCGAAAGGAGTAG	0.612																																																	0																																										SO:0001623	5_prime_UTR_variant	147011			BC029574	CCDS11239.1	17q11.2	2009-04-20	2009-04-20		ENSG00000167525	ENSG00000167525			28600	protein-coding gene	gene with protein product	"""proline-rich cyclin A1-interacting protein"""					15159402	Standard	NM_152465		Approved	MGC39650	uc002hca.1	Q8NCQ7	OTTHUMG00000132682	ENST00000579650.1:c.-673C>T	17.37:g.27037983G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DX95|G5E9R8	RNA	SNP	-	NULL	ENST00000579650.1	37	NULL		17																																																																																			PROCA1	-	-		0.612	PROCA1-003	KNOWN	basic	processed_transcript	PROCA1	HGNC	protein_coding	OTTHUMT00000255971.3	G	NM_152465		27037983	-1	no_errors	ENST00000422880	ensembl	human	known	70_37	rna	SNP	0.000	A
PROKR2	128674	genome.wustl.edu	37	20	5294944	5294944	+	Silent	SNP	G	G	C	rs375646689		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:5294944G>C	ENST00000217270.3	-	1	71	c.72C>G	c.(70-72)ctC>ctG	p.L24L	PROKR2_ENST00000546004.1_Silent_p.L24L	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	24					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGTTAAAGGAGAGGGAGGAGG	0.498										HNSCC(71;0.22)																																							0													115.0	103.0	107.0					20																	5294944		2203	4300	6503	SO:0001819	synonymous_variant	128674			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.72C>G	20.37:g.5294944G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.L24	ENST00000217270.3	37	c.72	CCDS13089.1	20																																																																																			PROKR2	-	NULL		0.498	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR2	HGNC	protein_coding	OTTHUMT00000077854.1	G	NM_144773		5294944	-1	no_errors	ENST00000217270	ensembl	human	known	70_37	silent	SNP	0.368	C
PRPF38A	84950	genome.wustl.edu	37	1	52882338	52882338	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:52882338G>A	ENST00000257181.9	+	10	1101	c.915G>A	c.(913-915)aaG>aaA	p.K305K	PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	305					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.K305N(1)		cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						AGAGCCACAAGAAGAGCCGGA	0.448																																																	1	Substitution - Missense(1)	cervix(1)											82.0	82.0	82.0					1																	52882338		2203	4300	6503	SO:0001819	synonymous_variant	84950			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.915G>A	1.37:g.52882338G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96JW1|Q9BVZ8	Silent	SNP	pfam_PRP38	p.K305	ENST00000257181.9	37	c.915	CCDS567.1	1																																																																																			PRPF38A	-	NULL		0.448	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38A	HGNC	protein_coding	OTTHUMT00000022459.2	G	NM_032864		52882338	+1	no_errors	ENST00000257181	ensembl	human	known	70_37	silent	SNP	1.000	A
PRPF38A	84950	genome.wustl.edu	37	1	52882504	52882504	+	3'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:52882504G>A	ENST00000257181.9	+	0	1267				PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						TATTTTTAATGAAGGAGGTGC	0.318																																																	0																																										SO:0001624	3_prime_UTR_variant	84950			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.*142G>A	1.37:g.52882504G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96JW1|Q9BVZ8	RNA	SNP	-	NULL	ENST00000257181.9	37	NULL	CCDS567.1	1																																																																																			PRPF38A	-	-		0.318	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38A	HGNC	protein_coding	OTTHUMT00000022459.2	G	NM_032864		52882504	+1	no_errors	ENST00000474048	ensembl	human	known	70_37	rna	SNP	0.914	A
PRPH	5630	genome.wustl.edu	37	12	49689217	49689217	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:49689217C>G	ENST00000257860.4	+	1	1733	c.234C>G	c.(232-234)ctC>ctG	p.L78L	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						CGGAGCGCCTCGACTTCTCCA	0.701																																																	0													10.0	10.0	10.0					12																	49689217		2184	4283	6467	SO:0001819	synonymous_variant	5630				CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.234C>G	12.37:g.49689217C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TFH5|Q6DK65	Silent	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,prints_Keratin_I	p.L78	ENST00000257860.4	37	c.234	CCDS8783.1	12																																																																																			PRPH	-	pfam_Intermed_filament_DNA-bd		0.701	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPH	HGNC	protein_coding	OTTHUMT00000393381.1	C	NM_006262		49689217	+1	no_errors	ENST00000257860	ensembl	human	known	70_37	silent	SNP	0.972	G
PRPF40B	25766	genome.wustl.edu	37	12	50028990	50028990	+	Silent	SNP	G	G	A	rs202229709		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:50028990G>A	ENST00000380281.1	+	12	1108	c.1044G>A	c.(1042-1044)caG>caA	p.Q348Q	PRPF40B_ENST00000261897.1_Silent_p.Q342Q|FMNL3_ENST00000550668.1_5'Flank|PRPF40B_ENST00000548825.2_Silent_p.Q370Q			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	348	FF 2.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AGGCCAAGCAGACCCTGCAGC	0.597																																																	0													57.0	56.0	56.0					12																	50028990		2203	4300	6503	SO:0001819	synonymous_variant	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1044G>A	12.37:g.50028990G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.Q348	ENST00000380281.1	37	c.1044		12																																																																																			PRPF40B	-	superfamily_FF_domain		0.597	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	G	NM_012272		50028990	+1	no_errors	ENST00000380281	ensembl	human	known	70_37	silent	SNP	1.000	A
PRR14	78994	genome.wustl.edu	37	16	30663238	30663238	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30663238C>G	ENST00000542965.2	+	2	601	c.145C>G	c.(145-147)Cgg>Ggg	p.R49G	PRR14_ENST00000300835.4_Missense_Mutation_p.R49G			Q9BWN1	PRR14_HUMAN	proline rich 14	49										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			AAAGGCCTCTCGGCGGGTCCT	0.622																																																	0													29.0	34.0	32.0					16																	30663238		2129	4220	6349	SO:0001583	missense	78994			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.145C>G	16.37:g.30663238C>G	ENSP00000441641:p.Arg49Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WTX2	Missense_Mutation	SNP	NULL	p.R49G	ENST00000542965.2	37	c.145	CCDS10687.1	16	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324194	0.81580	.	.	ENSG00000156858	ENST00000300835;ENST00000542965	T;T	0.51574	0.7;0.7	5.8	5.8	0.92144	.	0.127696	0.36134	N	0.002771	T	0.53012	0.1770	L	0.57536	1.79	0.35758	D	0.819948	P	0.45768	0.866	P	0.46479	0.518	T	0.65635	-0.6120	10	0.72032	D	0.01	-13.7596	15.5592	0.76229	0.0:1.0:0.0:0.0	.	49	Q9BWN1	PRR14_HUMAN	G	49	ENSP00000300835:R49G;ENSP00000441641:R49G	ENSP00000300835:R49G	R	+	1	2	PRR14	30570739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.698000	0.54771	2.753000	0.94483	0.455000	0.32223	CGG	PRR14	-	NULL		0.622	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR14	HGNC	protein_coding	OTTHUMT00000434433.1	C	NM_024031		30663238	+1	no_errors	ENST00000300835	ensembl	human	known	70_37	missense	SNP	1.000	G
PRR3	80742	genome.wustl.edu	37	6	30525127	30525127	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:30525127G>A	ENST00000376560.3	+	1	465	c.6G>A	c.(4-6)ccG>ccA	p.P2P	GNL1_ENST00000376621.3_5'Flank|PRR3_ENST00000498336.1_3'UTR|PRR3_ENST00000376557.3_Silent_p.P2P	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	2							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						ACACGATGCCGAAACGAAAGA	0.632																																																	0													23.0	28.0	26.0					6																	30525127		1384	2618	4002	SO:0001819	synonymous_variant	80742			AK074531	CCDS43440.1, CCDS43441.1	6p21.32	2013-01-18	2004-05-27		ENSG00000204576	ENSG00000204576		"""Zinc fingers, CCCH-type domain containing"""	21149	protein-coding gene	gene with protein product			"""proline-rich polpeptide 3"""				Standard	NM_025263		Approved	CAT56, Em:AB014077.1, Em:AB023052.2	uc003nqi.2	P79522	OTTHUMG00000031037	ENST00000376560.3:c.6G>A	6.37:g.30525127G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4H4|Q5RJB5|Q5STN6	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.P2	ENST00000376560.3	37	c.6	CCDS43440.1	6																																																																																			PRR3	-	NULL		0.632	PRR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR3	HGNC	protein_coding	OTTHUMT00000076033.2	G	NM_025263		30525127	+1	no_errors	ENST00000376560	ensembl	human	known	70_37	silent	SNP	1.000	A
PRR5	55615	genome.wustl.edu	37	22	45132663	45132663	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:45132663C>T	ENST00000336985.6	+	8	980	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F	PRR5_ENST00000403581.1_Missense_Mutation_p.L258F|ARHGAP8_ENST00000517296.3_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000006251.7_Missense_Mutation_p.L226F	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	235					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		AAAGCGCCTCCTCCGCCGCTC	0.677																																																	0													42.0	49.0	46.0					22																	45132663		2189	4278	6467	SO:0001583	missense	55615			AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.703C>T	22.37:g.45132663C>T	ENSP00000337464:p.Leu235Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	pfam_HbrB	p.L235F	ENST00000336985.6	37	c.703	CCDS14058.1	22	.	.	.	.	.	.	.	.	.	.	C	2.394	-0.339084	0.05243	.	.	ENSG00000186654	ENST00000432186;ENST00000006251;ENST00000404016;ENST00000403581;ENST00000336985;ENST00000457960	T;T;T;T;T	0.51325	1.5;1.47;1.45;1.47;0.71	5.41	3.1	0.35709	.	.	.	.	.	T	0.22513	0.0543	N	0.10874	0.06	0.30346	N	0.785283	B;B;B;B;B	0.15473	0.013;0.003;0.006;0.003;0.003	B;B;B;B;B	0.14023	0.007;0.002;0.01;0.002;0.002	T	0.25047	-1.0143	9	0.10111	T	0.7	.	4.9352	0.13937	0.0:0.5999:0.2284:0.1716	.	199;258;134;235;235	B1AHF5;B1AHF6;P85299-2;P85299;A8K699	.;.;.;PRR5_HUMAN;.	F	226;226;199;258;235;226	ENSP00000400925:L226F;ENSP00000006251:L226F;ENSP00000384848:L258F;ENSP00000337464:L235F;ENSP00000410215:L226F	ENSP00000006251:L226F	L	+	1	0	PRR5	43511327	0.710000	0.27896	0.351000	0.25721	0.136000	0.21042	2.184000	0.42575	1.256000	0.44068	0.313000	0.20887	CTC	PRR5	-	NULL		0.677	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR5	HGNC	protein_coding	OTTHUMT00000318200.2	C	NM_001017528		45132663	+1	no_errors	ENST00000336985	ensembl	human	known	70_37	missense	SNP	0.043	T
PRRC2A	7916	genome.wustl.edu	37	6	31591540	31591540	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:31591540G>A	ENST00000376033.2	+	3	378	c.144G>A	c.(142-144)ggG>ggA	p.G48G	PRRC2A_ENST00000469577.1_Intron|SNORA38_ENST00000363946.1_RNA|PRRC2A_ENST00000376007.4_Silent_p.G48G	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	48	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGAGTCTCGGGAAAGTTGCCA	0.562																																																	0													61.0	54.0	56.0					6																	31591540		2203	4300	6503	SO:0001819	synonymous_variant	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.144G>A	6.37:g.31591540G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	pfam_BAT2_N	p.G48	ENST00000376033.2	37	c.144	CCDS4708.1	6																																																																																			PRRC2A	-	pfam_BAT2_N		0.562	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	G	NM_080686		31591540	+1	no_errors	ENST00000376007	ensembl	human	known	70_37	silent	SNP	1.000	A
PRRC2C	23215	genome.wustl.edu	37	1	171454842	171454842	+	5'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:171454842C>G	ENST00000338920.4	+	0	148				PRRC2C_ENST00000426496.2_5'UTR|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000392078.3_5'UTR|PRRC2C_ENST00000367742.3_5'UTR	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C						hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CGGAGACCCTCGAAGTGCGCA	0.627																																																	0																																										SO:0001623	5_prime_UTR_variant	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.-90C>G	1.37:g.171454842C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	RNA	SNP	-	NULL	ENST00000338920.4	37	NULL	CCDS1296.2	1																																																																																			PRRC2C	-	-		0.627	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	C	NM_015172		171454842	+1	no_errors	ENST00000467601	ensembl	human	known	70_37	rna	SNP	0.000	G
PRSS12	8492	genome.wustl.edu	37	4	119239689	119239689	+	Missense_Mutation	SNP	G	G	C	rs376733642		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:119239689G>C	ENST00000296498.3	-	5	1276	c.994C>G	c.(994-996)Cag>Gag	p.Q332E		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	332	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AAATATGCCTGATGCCATGCT	0.423																																																	0													74.0	69.0	71.0					4																	119239689		2203	4300	6503	SO:0001583	missense	8492			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.994C>G	4.37:g.119239689G>C	ENSP00000296498:p.Gln332Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UP16	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Srcr_rcpt,prints_Peptidase_S1A	p.Q332E	ENST00000296498.3	37	c.994	CCDS3709.1	4	.	.	.	.	.	.	.	.	.	.	G	5.263	0.233903	0.09969	.	.	ENSG00000164099	ENST00000296498	T	0.43688	0.94	5.8	4.95	0.65309	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.124400	0.06360	N	0.711513	T	0.28599	0.0708	N	0.13043	0.29	0.24510	N	0.994213	B	0.19445	0.036	B	0.20384	0.029	T	0.05784	-1.0864	10	0.02654	T	1	.	14.5136	0.67804	0.0:0.0:0.8534:0.1466	.	332	P56730	NETR_HUMAN	E	332	ENSP00000296498:Q332E	ENSP00000296498:Q332E	Q	-	1	0	PRSS12	119459137	0.922000	0.31269	0.034000	0.17996	0.967000	0.64934	2.113000	0.41902	1.414000	0.47017	0.655000	0.94253	CAG	PRSS12	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.423	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS12	HGNC	protein_coding	OTTHUMT00000256516.2	G			119239689	-1	no_errors	ENST00000296498	ensembl	human	known	70_37	missense	SNP	0.480	C
PRTFDC1	56952	genome.wustl.edu	37	10	25160966	25160966	+	Missense_Mutation	SNP	C	C	G	rs557447887		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:25160966C>G	ENST00000320152.6	-	4	394	c.366G>C	c.(364-366)caG>caC	p.Q122H	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.Q122H	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	122					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CTCCGATTATCTGCATCTCAC	0.448																																																	0													260.0	226.0	237.0					10																	25160966		2203	4300	6503	SO:0001583	missense	56952			AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.366G>C	10.37:g.25160966C>G	ENSP00000318602:p.Gln122His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans	p.Q122H	ENST00000320152.6	37	c.366	CCDS7145.1	10	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449786	0.26074	.	.	ENSG00000099256	ENST00000320152;ENST00000358336;ENST00000376378	D;D	0.99382	-5.8;-5.8	5.7	2.87	0.33458	Phosphoribosyltransferase (1);	0.051776	0.85682	D	0.000000	D	0.98071	0.9364	N	0.17278	0.47	0.80722	D	1	D;B	0.59357	0.985;0.006	D;B	0.74348	0.983;0.013	D	0.96351	0.9258	10	0.41790	T	0.15	.	7.1092	0.25380	0.0:0.7314:0.0:0.2686	.	122;122	Q9NRG1-2;Q9NRG1	.;PRDC1_HUMAN	H	122	ENSP00000318602:Q122H;ENSP00000365558:Q122H	ENSP00000318602:Q122H	Q	-	3	2	PRTFDC1	25200972	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	1.447000	0.35101	0.774000	0.33427	-0.136000	0.14681	CAG	PRTFDC1	-	pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans		0.448	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTFDC1	HGNC	protein_coding	OTTHUMT00000047243.2	C	NM_020200		25160966	-1	no_errors	ENST00000320152	ensembl	human	known	70_37	missense	SNP	0.998	G
PRX	57716	genome.wustl.edu	37	19	40901379	40901380	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:40901379_40901380GG>AA	ENST00000324001.7	-	7	3149_3150	c.2879_2880CC>TT	c.(2878-2880)tCC>tTT	p.S960F	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	960					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCAAATTTGGATACCTTCAG	0.614																																																	0																																										SO:0001583	missense	57716			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2879_2880delinsAA	19.37:g.40901379_40901380delinsAA	ENSP00000326018:p.Ser960Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BXL9|Q9HCF2	Silent|Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S960|p.S960F	ENST00000324001.7	37	c.2880|c.2879	CCDS33028.1	19																																																																																			PRX	-	NULL		0.614	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	G	NM_020956		40901379|40901380	-1	no_errors	ENST00000324001	ensembl	human	known	70_37	silent|missense	SNP	1.000	A
PSG6	5675	genome.wustl.edu	37	19	43414888	43414888	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:43414888G>C	ENST00000292125.2	-	3	594	c.550C>G	c.(550-552)Cag>Gag	p.Q184E	PSG6_ENST00000402603.4_Missense_Mutation_p.Q184E|PSG6_ENST00000187910.2_Missense_Mutation_p.Q184E	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	184	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.Q184E(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GGGAGGTTCTGACCATTCAGC	0.498																																																	1	Substitution - Missense(1)	lung(1)											222.0	222.0	222.0					19																	43414888		2201	4299	6500	SO:0001583	missense	5675				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.550C>G	19.37:g.43414888G>C	ENSP00000292125:p.Gln184Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q184E	ENST00000292125.2	37	c.550	CCDS12613.1	19	.	.	.	.	.	.	.	.	.	.	N	5.054	0.195572	0.09599	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.11495	2.77;2.77;2.77	1.64	0.483	0.16820	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15739	0.0379	L	0.43598	1.365	0.09310	N	1	P;P;P	0.42337	0.776;0.686;0.729	B;B;P	0.55713	0.314;0.396;0.782	T	0.20773	-1.0265	9	0.36615	T	0.2	.	4.1427	0.10201	0.2412:0.0:0.7588:0.0	.	184;184;184	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	E	184	ENSP00000187910:Q184E;ENSP00000385736:Q184E;ENSP00000292125:Q184E	ENSP00000187910:Q184E	Q	-	1	0	PSG6	48106728	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.095000	0.11077	0.026000	0.15269	0.194000	0.17425	CAG	PSG6	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.498	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG6	HGNC	protein_coding	OTTHUMT00000321436.1	G	NM_002782		43414888	-1	no_errors	ENST00000292125	ensembl	human	known	70_37	missense	SNP	0.001	C
PSKH2	85481	genome.wustl.edu	37	8	87076230	87076230	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:87076230C>G	ENST00000276616.2	-	2	890	c.816G>C	c.(814-816)agG>agC	p.R272S	PSKH2_ENST00000517981.1_5'Flank	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TCAGAATCTTCCTGTAAAGCC	0.413																																																	0													66.0	68.0	67.0					8																	87076230		2203	4300	6503	SO:0001583	missense	85481			AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.816G>C	8.37:g.87076230C>G	ENSP00000276616:p.Arg272Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV22	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R272S	ENST00000276616.2	37	c.816	CCDS6240.1	8	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770092	0.31320	.	.	ENSG00000147613	ENST00000276616	T	0.65732	-0.17	4.98	3.17	0.36434	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.44746	0.1308	N	0.21508	0.67	0.21220	N	0.999758	B	0.24258	0.1	B	0.32149	0.141	T	0.33240	-0.9876	9	0.20046	T	0.44	.	4.5418	0.12061	0.0:0.6171:0.1855:0.1974	.	272	Q96QS6	KPSH2_HUMAN	S	272	ENSP00000276616:R272S	ENSP00000276616:R272S	R	-	3	2	PSKH2	87145346	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.290000	0.33319	1.074000	0.40909	0.655000	0.94253	AGG	PSKH2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.413	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSKH2	HGNC	protein_coding	OTTHUMT00000374628.1	C	NM_033126		87076230	-1	no_errors	ENST00000276616	ensembl	human	known	70_37	missense	SNP	1.000	G
PSRC1	84722	genome.wustl.edu	37	1	109823694	109823694	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:109823694C>T	ENST00000438534.2	-	5	837	c.699G>A	c.(697-699)ctG>ctA	p.L233L	PSRC1_ENST00000369909.2_Intron|PSRC1_ENST00000369904.3_Intron|PSRC1_ENST00000369907.3_Intron|PSRC1_ENST00000409138.2_Silent_p.L233L|PSRC1_ENST00000409267.1_Intron|PSRC1_ENST00000369903.2_Intron	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	233	4 X 4 AA repeats of P-X-X-P.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GGAGAAATTTCAGGGTCAATC	0.652																																																	0													46.0	56.0	52.0					1																	109823694		2203	4300	6503	SO:0001819	synonymous_variant	84722				CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"""differential display and activated by p53"""	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.699G>A	1.37:g.109823694C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Silent	SNP	NULL	p.L233	ENST00000438534.2	37	c.699		1																																																																																			PSRC1	-	NULL		0.652	PSRC1-202	KNOWN	basic	protein_coding	PSRC1	HGNC	protein_coding	OTTHUMT00000335567.3	C	NM_032636		109823694	-1	no_errors	ENST00000438534	ensembl	human	known	70_37	silent	SNP	0.009	T
PSTK	118672	genome.wustl.edu	37	10	124746889	124746889	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:124746889G>C	ENST00000368887.3	+	6	1357	c.917G>C	c.(916-918)aGa>aCa	p.R306T	PSTK_ENST00000497219.1_3'UTR|PSTK_ENST00000405485.1_3'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	306					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		tttaagcaaagatgggtaaga	0.418																																																	0													108.0	100.0	102.0					10																	124746889		2203	4300	6503	SO:0001583	missense	118672			AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"""chromosome 10 open reading frame 89"""	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.917G>C	10.37:g.124746889G>C	ENSP00000357882:p.Arg306Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZSS9	Missense_Mutation	SNP	pfam_Chromatin_KTI12,tigrfam_L-seryl-tRNA_Sec_kinase_euk	p.R306T	ENST00000368887.3	37	c.917	CCDS7633.1	10	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637869	0.29157	.	.	ENSG00000179988	ENST00000368887	T	0.53640	0.61	2.28	1.29	0.21616	.	2.046020	0.03335	U	0.193966	T	0.33059	0.0850	N	0.08118	0	0.09310	N	1	B	0.28801	0.223	B	0.37267	0.245	T	0.36792	-0.9733	10	0.36615	T	0.2	.	5.8343	0.18599	0.0:0.0:0.6858:0.3142	.	306	Q8IV42	PSTK_HUMAN	T	306	ENSP00000357882:R306T	ENSP00000357882:R306T	R	+	2	0	PSTK	124736879	0.004000	0.15560	0.007000	0.13788	0.793000	0.44817	1.014000	0.29950	0.476000	0.27440	0.655000	0.94253	AGA	PSTK	-	NULL		0.418	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTK	HGNC	protein_coding	OTTHUMT00000050811.1	G	NM_153336		124746889	+1	no_errors	ENST00000368887	ensembl	human	known	70_37	missense	SNP	0.010	C
PTBP1	5725	genome.wustl.edu	37	19	804855	804855	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:804855G>A	ENST00000349038.4	+	7	706	c.633G>A	c.(631-633)ttG>ttA	p.L211L	PTBP1_ENST00000356948.6_Silent_p.L211L|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Silent_p.L211L|MIR4745_ENST00000577608.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	211	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACAGTGTTGAAGATCATCA	0.642																																																	0													102.0	91.0	95.0					19																	804855		2203	4300	6503	SO:0001819	synonymous_variant	5725			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.633G>A	19.37:g.804855G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BUQ0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.L211	ENST00000349038.4	37	c.633	CCDS32859.1	19																																																																																			PTBP1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB		0.642	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	HGNC	protein_coding	OTTHUMT00000457605.1	G			804855	+1	no_errors	ENST00000356948	ensembl	human	known	70_37	silent	SNP	1.000	A
PTGER2	5732	genome.wustl.edu	37	14	52781935	52781935	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:52781935C>T	ENST00000245457.5	+	1	823	c.669C>T	c.(667-669)atC>atT	p.I223I	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	223					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TCAACCTCATCCGCATGCACC	0.672																																																	0													49.0	42.0	44.0					14																	52781935		2203	4300	6503	SO:0001819	synonymous_variant	5732				CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.669C>T	14.37:g.52781935C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSC0|Q52LG8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn	p.I223	ENST00000245457.5	37	c.669	CCDS9708.1	14																																																																																			PTGER2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.672	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER2	HGNC	protein_coding	OTTHUMT00000276890.1	C			52781935	+1	no_errors	ENST00000245457	ensembl	human	known	70_37	silent	SNP	0.694	T
PTGFRN	5738	genome.wustl.edu	37	1	117487580	117487580	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:117487580C>T	ENST00000393203.2	+	3	845	c.698C>T	c.(697-699)tCa>tTa	p.S233L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	233	Ig-like C2-type 2.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TACCGCCTCTCAGTGTCCCGG	0.662																																																	0													35.0	35.0	35.0					1																	117487580		2203	4300	6503	SO:0001583	missense	5738			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.698C>T	1.37:g.117487580C>T	ENSP00000376899:p.Ser233Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVU9|Q8N2K6	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S233L	ENST00000393203.2	37	c.698	CCDS890.1	1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664062	0.47572	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.02525	4.26	5.23	3.35	0.38373	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.342432	0.32055	N	0.006654	T	0.01421	0.0046	M	0.69823	2.125	0.31569	N	0.65652	B	0.33448	0.412	B	0.34038	0.174	T	0.39860	-0.9593	10	0.11794	T	0.64	-11.2907	10.0	0.41922	0.0:0.8295:0.0:0.1705	.	233	Q9P2B2	FPRP_HUMAN	L	233;92	ENSP00000376899:S233L	ENSP00000376899:S233L	S	+	2	0	PTGFRN	117289103	0.542000	0.26426	0.730000	0.30809	0.966000	0.64601	2.017000	0.40981	1.221000	0.43506	0.561000	0.74099	TCA	PTGFRN	-	smart_Ig_sub,pfscan_Ig-like		0.662	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	HGNC	protein_coding	OTTHUMT00000033271.1	C	NM_020440		117487580	+1	no_errors	ENST00000393203	ensembl	human	known	70_37	missense	SNP	0.773	T
PTPN21	11099	genome.wustl.edu	37	14	89016638	89016638	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:89016638C>G	ENST00000556564.1	-	2	408	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Missense_Mutation_p.E42Q|RP11-507K2.3_ENST00000556328.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	42	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAGTGCTCTCCACGGACAGG	0.612																																																	0													106.0	103.0	104.0					14																	89016638		2203	4300	6503	SO:0001583	missense	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.124G>C	14.37:g.89016638C>G	ENSP00000452414:p.Glu42Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.E42Q	ENST00000556564.1	37	c.124	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026666	0.93518	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.77098	-1.07;-1.07;-1.07	5.5	5.5	0.81552	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.83473	0.5262	L	0.33485	1.01	0.58432	D	0.999991	D;D	0.76494	0.998;0.999	D;D	0.85130	0.969;0.997	D	0.83437	0.0041	10	0.46703	T	0.11	.	19.3935	0.94596	0.0:1.0:0.0:0.0	.	42;42	G3V3S6;Q16825	.;PTN21_HUMAN	Q	42	ENSP00000330276:E42Q;ENSP00000452414:E42Q;ENSP00000451401:E42Q	ENSP00000330276:E42Q	E	-	1	0	PTPN21	88086391	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.604000	0.82830	2.587000	0.87381	0.561000	0.74099	GAG	PTPN21	-	pfam_FERM_N,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain		0.612	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	C			89016638	-1	no_errors	ENST00000328736	ensembl	human	known	70_37	missense	SNP	1.000	G
PTPN23	25930	genome.wustl.edu	37	3	47449934	47449934	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:47449934C>T	ENST00000265562.4	+	15	1361	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L	PTPN23_ENST00000431726.1_Silent_p.L302L	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	428					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCGCGGCTCTCAGCGTCCGGC	0.577																																																	0													94.0	80.0	84.0					3																	47449934		2203	4300	6503	SO:0001819	synonymous_variant	25930			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1284C>T	3.37:g.47449934C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L428	ENST00000265562.4	37	c.1284	CCDS2754.1	3																																																																																			PTPN23	-	NULL		0.577	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	C	NM_015466		47449934	+1	no_errors	ENST00000265562	ensembl	human	known	70_37	silent	SNP	1.000	T
PTPRA	5786	genome.wustl.edu	37	20	2967413	2967413	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:2967413G>A	ENST00000216877.6	+	6	818	c.418G>A	c.(418-420)Gag>Aag	p.E140K	PTPRA_ENST00000380393.3_Missense_Mutation_p.E149K|PTPRA_ENST00000425918.2_Missense_Mutation_p.E160K|PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000399903.2_Missense_Mutation_p.E149K|PTPRA_ENST00000356147.3_Missense_Mutation_p.E140K|PTPRA_ENST00000318266.5_Missense_Mutation_p.E140K	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	140					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GATTTCAGATGAGACACCAAT	0.438																																																	0													311.0	244.0	267.0					20																	2967413		2203	4300	6503	SO:0001583	missense	5786				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.418G>A	20.37:g.2967413G>A	ENSP00000216877:p.Glu140Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_a/e-type,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E160K	ENST00000216877.6	37	c.478	CCDS13039.1	20	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013078	0.93346	.	.	ENSG00000132670	ENST00000380393;ENST00000455631;ENST00000216877;ENST00000399903;ENST00000418580;ENST00000425918;ENST00000318266;ENST00000430705;ENST00000356147	T;T;T;T;T;T;T;T	0.58060	3.9;0.76;3.91;3.9;3.89;3.91;0.36;3.91	5.81	5.81	0.92471	.	0.057432	0.64402	U	0.000002	T	0.45696	0.1355	N	0.19112	0.55	0.80722	D	1	P;P;P	0.49559	0.877;0.925;0.925	B;P;P	0.47162	0.339;0.54;0.54	T	0.22591	-1.0212	10	0.12103	T	0.63	.	20.0795	0.97766	0.0:0.0:1.0:0.0	.	160;149;140	B7Z2A4;P18433-3;P18433-4	.;.;.	K	149;140;140;149;149;160;140;149;140	ENSP00000369756:E149K;ENSP00000414089:E140K;ENSP00000216877:E140K;ENSP00000382787:E149K;ENSP00000393553:E160K;ENSP00000314568:E140K;ENSP00000394132:E149K;ENSP00000348468:E140K	ENSP00000216877:E140K	E	+	1	0	PTPRA	2915413	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.498000	0.97972	2.747000	0.94245	0.650000	0.86243	GAG	PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type		0.438	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	G			2967413	+1	no_errors	ENST00000425918	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPRB	5787	genome.wustl.edu	37	12	70965766	70965766	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:70965766C>G	ENST00000261266.5	-	10	2319	c.2290G>C	c.(2290-2292)Gtc>Ctc	p.V764L	PTPRB_ENST00000551525.1_Missense_Mutation_p.V981L|PTPRB_ENST00000538708.1_Missense_Mutation_p.V764L|PTPRB_ENST00000550358.1_Missense_Mutation_p.V894L|PTPRB_ENST00000451516.2_Missense_Mutation_p.V674L|PTPRB_ENST00000550857.1_Missense_Mutation_p.V674L|PTPRB_ENST00000334414.6_Missense_Mutation_p.V982L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	764	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTAATGGTGACTTCATAGTGA	0.433																																																	0													150.0	152.0	151.0					12																	70965766		1943	4160	6103	SO:0001583	missense	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2290G>C	12.37:g.70965766C>G	ENSP00000261266:p.Val764Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.V982L	ENST00000261266.5	37	c.2944	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692889	0.68271	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	6.08	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	M	0.71581	2.175	0.53005	D	0.999961	D;D;D;P;D;D;D	0.89917	1.0;1.0;0.998;0.726;1.0;1.0;1.0	D;D;D;P;D;D;D	0.91635	0.999;0.999;0.999;0.66;0.999;0.999;0.999	T	0.75847	-0.3173	10	0.33940	T	0.23	.	13.818	0.63303	0.0:0.9295:0.0:0.0705	.	674;764;861;981;982;764;894	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	L	982;674;894;894;764;674;764;981;861	ENSP00000334928:V982L;ENSP00000393028:V674L;ENSP00000448058:V894L;ENSP00000438927:V764L;ENSP00000447302:V674L;ENSP00000261266:V764L;ENSP00000448349:V981L;ENSP00000446982:V861L	ENSP00000261266:V764L	V	-	1	0	PTPRB	69252033	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.584000	0.60971	1.584000	0.49913	0.655000	0.94253	GTC	PTPRB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.433	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	C			70965766	-1	no_errors	ENST00000334414	ensembl	human	known	70_37	missense	SNP	1.000	G
PTPRD	5789	genome.wustl.edu	37	9	8518128	8518128	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:8518128C>T	ENST00000381196.4	-	18	1806	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	PTPRD_ENST00000397606.3_Silent_p.P411P|PTPRD_ENST00000397611.3_Silent_p.P418P|PTPRD_ENST00000537002.1_Silent_p.P418P|PTPRD_ENST00000360074.4_Silent_p.P408P|PTPRD_ENST00000358503.5_Silent_p.P408P|PTPRD_ENST00000355233.5_Silent_p.P421P|PTPRD_ENST00000486161.1_Silent_p.P421P|PTPRD_ENST00000540109.1_Silent_p.P421P|PTPRD_ENST00000356435.5_Silent_p.P421P|PTPRD_ENST00000397617.3_Silent_p.P411P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	421	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P421P(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGACATCCCTCGGGGCACTGG	0.493										TSP Lung(15;0.13)																																							4	Substitution - coding silent(4)	lung(4)											172.0	163.0	166.0					9																	8518128		2203	4300	6503	SO:0001819	synonymous_variant	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1263G>A	9.37:g.8518128C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.P421	ENST00000381196.4	37	c.1263	CCDS43786.1	9																																																																																			PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.493	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	C			8518128	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	silent	SNP	0.000	T
PTPRF	5792	genome.wustl.edu	37	1	44019601	44019601	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:44019601C>G	ENST00000359947.4	+	5	708	c.368C>G	c.(367-369)tCa>tGa	p.S123*	PTPRF_ENST00000372413.3_Nonsense_Mutation_p.S123*|PTPRF_ENST00000372414.3_Nonsense_Mutation_p.S123*|PTPRF_ENST00000438120.1_Nonsense_Mutation_p.S123*	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	123	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCAAGCTCTCAGTGCTCGAA	0.602																																																	0													146.0	99.0	114.0					1																	44019601		2203	4300	6503	SO:0001587	stop_gained	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.368C>G	1.37:g.44019601C>G	ENSP00000353030:p.Ser123*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.S123*	ENST00000359947.4	37	c.368	CCDS489.2	1	.	.	.	.	.	.	.	.	.	.	C	38	6.874183	0.97901	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000437607	.	.	.	4.74	4.74	0.60224	.	0.000000	0.29239	N	0.012726	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	18.1107	0.89534	0.0:1.0:0.0:0.0	.	.	.	.	X	123	.	ENSP00000353030:S123X	S	+	2	0	PTPRF	43792188	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.794000	0.62482	2.334000	0.79466	0.655000	0.94253	TCA	PTPRF	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.602	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	C			44019601	+1	no_errors	ENST00000359947	ensembl	human	known	70_37	nonsense	SNP	1.000	G
PTPRF	5792	genome.wustl.edu	37	1	44057179	44057179	+	Missense_Mutation	SNP	G	G	A	rs368501227		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:44057179G>A	ENST00000359947.4	+	9	1826	c.1486G>A	c.(1486-1488)Gat>Aat	p.D496N	PTPRF_ENST00000372413.3_Missense_Mutation_p.D496N|PTPRF_ENST00000372414.3_Missense_Mutation_p.D496N|PTPRF_ENST00000438120.1_Missense_Mutation_p.D496N|PTPRF_ENST00000422171.2_De_novo_Start_OutOfFrame	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	496	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGCCGTGGGCGATGGCCCTCC	0.682																																																	0								G	ASN/ASP,ASN/ASP	0,4346		0,0,2173	12.0	12.0	12.0		1486,1486	5.3	0.4	1		12	1,8445		0,1,4222	no	missense,missense	PTPRF	NM_002840.3,NM_130440.2	23,23	0,1,6395	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging,probably-damaging	496/1908,496/1899	44057179	1,12791	2173	4223	6396	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1486G>A	1.37:g.44057179G>A	ENSP00000353030:p.Asp496Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.D496N	ENST00000359947.4	37	c.1486	CCDS489.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.85|14.85	2.657632|2.657632	0.47467|0.47467	0.0|0.0	1.18E-4|1.18E-4	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413|ENST00000412568;ENST00000414879	T;T;T;T|.	0.53423|.	0.62;0.62;0.62;0.62|.	5.35|5.35	5.35|5.35	0.76521|0.76521	Fibronectin, type III (5);Immunoglobulin-like fold (1);|.	0.000000|.	0.35838|.	N|.	0.002953|.	D|D	0.82421|0.82421	0.5033|0.5033	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.996;0.998;1.0|.	P;P;D|.	0.73708|.	0.842;0.877;0.981|.	T|T	0.83220|0.83220	-0.0069|-0.0069	10|5	0.24483|.	T|.	0.36|.	.|.	19.4657|19.4657	0.94939|0.94939	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	152;496;496|.	Q59FI2;P10586-2;P10586|.	.;.;PTPRF_HUMAN|.	N|Q	496|163;20	ENSP00000353030:D496N;ENSP00000398822:D496N;ENSP00000361491:D496N;ENSP00000361490:D496N|.	ENSP00000353030:D496N|.	D|R	+|+	1|2	0|0	PTPRF|PTPRF	43829766|43829766	1.000000|1.000000	0.71417|0.71417	0.409000|0.409000	0.26459|0.26459	0.059000|0.059000	0.15707|0.15707	7.643000|7.643000	0.83403|0.83403	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	GAT|CGA	PTPRF	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.682	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	G			44057179	+1	no_errors	ENST00000359947	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPRK	5796	genome.wustl.edu	37	6	128399990	128399990	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:128399990C>G	ENST00000368215.3	-	11	1850	c.1851G>C	c.(1849-1851)ttG>ttC	p.L617F	PTPRK_ENST00000368213.5_Missense_Mutation_p.L617F|PTPRK_ENST00000368227.3_Missense_Mutation_p.L617F|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000532331.1_Missense_Mutation_p.L617F|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.L617F|PTPRK_ENST00000368226.4_Missense_Mutation_p.L617F|PTPRK_ENST00000368207.3_Missense_Mutation_p.L617F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	617	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GTGCTGGTCTCAACAATACAG	0.418																																																	0													195.0	178.0	184.0					6																	128399990		2203	4300	6503	SO:0001583	missense	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1851G>C	6.37:g.128399990C>G	ENSP00000357198:p.Leu617Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.L617F	ENST00000368215.3	37	c.1851		6	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693358	0.68386	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.11385	2.79;2.78;2.8;2.8;2.79;2.82;2.79	5.91	4.14	0.48551	.	0.071507	0.56097	D	0.000029	T	0.22322	0.0538	M	0.83483	2.645	0.50313	D	0.99986	D;D;D;D;D;D	0.76494	0.998;0.996;0.997;0.982;0.998;0.999	D;D;D;P;D;D	0.83275	0.991;0.938;0.972;0.878;0.991;0.996	T	0.02307	-1.1179	10	0.87932	D	0	.	9.4913	0.38962	0.0:0.7878:0.0:0.2122	.	617;617;617;474;617;617	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	F	617;617;617;617;617;617;617;474	ENSP00000357209:L617F;ENSP00000357210:L617F;ENSP00000432973:L617F;ENSP00000357196:L617F;ENSP00000357193:L617F;ENSP00000357198:L617F;ENSP00000357190:L617F	ENSP00000357190:L617F	L	-	3	2	PTPRK	128441683	0.998000	0.40836	0.997000	0.53966	0.997000	0.91878	0.555000	0.23422	0.844000	0.35094	0.650000	0.86243	TTG	PTPRK	-	NULL		0.418	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	C			128399990	-1	no_errors	ENST00000368227	ensembl	human	known	70_37	missense	SNP	1.000	G
PTPRT	11122	genome.wustl.edu	37	20	40713456	40713456	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:40713456G>T	ENST00000373187.1	-	29	4001	c.4002C>A	c.(4000-4002)caC>caA	p.H1334Q	PTPRT_ENST00000373184.1_Missense_Mutation_p.H1344Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.H1324Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.H1343Q|PTPRT_ENST00000373198.4_Missense_Mutation_p.H1353Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.H1333Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.H1337Q			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1334	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGTACTGGAGGTGCTGGACTA	0.582																																																	0													64.0	69.0	67.0					20																	40713456		2071	4194	6265	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4002C>A	20.37:g.40713456G>T	ENSP00000362283:p.His1334Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.H1356Q	ENST00000373187.1	37	c.4068	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	G	8.168	0.790968	0.16258	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35	5.55	2.27	0.28462	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.06371	0.0164	N	0.04297	-0.235	0.54753	D	0.999987	B;B	0.22909	0.077;0.005	B;B	0.28465	0.09;0.026	T	0.32241	-0.9914	10	0.02654	T	1	.	8.918	0.35594	0.3286:0.0:0.6714:0.0	.	1356;1334	O14522-1;O14522	.;PTPRT_HUMAN	Q	1333;1334;1337;1343;1356;1344;1324	ENSP00000362286:H1333Q;ENSP00000362283:H1334Q;ENSP00000362289:H1337Q;ENSP00000348408:H1343Q;ENSP00000362294:H1356Q;ENSP00000362280:H1344Q;ENSP00000362297:H1324Q	ENSP00000348408:H1343Q	H	-	3	2	PTPRT	40146870	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.225000	0.17757	0.327000	0.23409	0.655000	0.94253	CAC	PTPRT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt		0.582	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	G			40713456	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	missense	SNP	1.000	T
PTPRU	10076	genome.wustl.edu	37	1	29585841	29585841	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:29585841C>T	ENST00000345512.3	+	4	675	c.546C>T	c.(544-546)ctC>ctT	p.L182L	PTPRU_ENST00000323874.8_Silent_p.L182L|PTPRU_ENST00000356870.3_Silent_p.L182L|PTPRU_ENST00000373779.3_Silent_p.L182L|PTPRU_ENST00000460170.2_Silent_p.L182L|PTPRU_ENST00000428026.2_Silent_p.L182L	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	182	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TCCTGCTTCTCAGCTACCCCT	0.682																																																	0													38.0	38.0	38.0					1																	29585841		2203	4299	6502	SO:0001819	synonymous_variant	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.546C>T	1.37:g.29585841C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.L182	ENST00000345512.3	37	c.546	CCDS334.1	1																																																																																			PTPRU	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom		0.682	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	C			29585841	+1	no_errors	ENST00000345512	ensembl	human	known	70_37	silent	SNP	1.000	T
PTTG1IP	754	genome.wustl.edu	37	21	46285354	46285354	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:46285354G>C	ENST00000330938.3	-	2	344	c.124C>G	c.(124-126)Cag>Gag	p.Q42E	PTTG1IP_ENST00000397887.3_Missense_Mutation_p.Q42E|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000445724.2_Missense_Mutation_p.Q42E	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	42	PSI.				multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TTTGTGTTCTGAGAACAAGCT	0.522																																																	0													158.0	118.0	131.0					21																	46285354		2203	4300	6503	SO:0001583	missense	754			AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.124C>G	21.37:g.46285354G>C	ENSP00000328325:p.Gln42Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDP7|D3DSL9|Q9NS09	Missense_Mutation	SNP	smart_Plexin-like	p.Q42E	ENST00000330938.3	37	c.124	CCDS13715.1	21	.	.	.	.	.	.	.	.	.	.	G	3.287	-0.145753	0.06627	.	.	ENSG00000183255	ENST00000397887;ENST00000330938;ENST00000445724	T;T;T	0.54071	0.59;0.59;1.0	4.67	-0.129	0.13502	.	0.524971	0.18857	N	0.129236	T	0.28466	0.0704	N	0.16743	0.435	0.09310	N	1	B;B	0.28178	0.202;0.001	B;B	0.25140	0.058;0.003	T	0.25813	-1.0121	10	0.06625	T	0.88	-0.0037	11.3331	0.49487	0.0823:0.4635:0.4542:0.0	.	42;42	B4DPZ0;P53801	.;PTTG_HUMAN	E	42	ENSP00000380984:Q42E;ENSP00000328325:Q42E;ENSP00000395374:Q42E	ENSP00000328325:Q42E	Q	-	1	0	PTTG1IP	45109782	0.124000	0.22315	0.595000	0.28798	0.895000	0.52256	0.672000	0.25187	0.024000	0.15214	0.558000	0.71614	CAG	PTTG1IP	-	smart_Plexin-like		0.522	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTTG1IP	HGNC	protein_coding	OTTHUMT00000206553.1	G			46285354	-1	no_errors	ENST00000330938	ensembl	human	known	70_37	missense	SNP	0.043	C
PUF60	22827	genome.wustl.edu	37	8	144904725	144904725	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:144904725C>G	ENST00000526683.1	-	3	667				PUF60_ENST00000527197.1_Intron|PUF60_ENST00000456095.2_Intron|PUF60_ENST00000453551.2_Intron|PUF60_ENST00000349157.6_Intron|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000313352.7_Intron	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa						apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTTCCACACACTCTTGCATGG	0.657																																																	0																																										SO:0001627	intron_variant	22827			AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.112-642G>C	8.37:g.144904725C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	RNA	SNP	-	NULL	ENST00000526683.1	37	NULL	CCDS47934.1	8																																																																																			PUF60	-	-		0.657	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUF60	HGNC	protein_coding	OTTHUMT00000382222.1	C	NM_014281		144904725	-1	no_errors	ENST00000524570	ensembl	human	known	70_37	rna	SNP	0.001	G
PUM1	9698	genome.wustl.edu	37	1	31465384	31465384	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:31465384G>C	ENST00000257075.5	-	7	1104	c.1011C>G	c.(1009-1011)ttC>ttG	p.F337L	PUM1_ENST00000440538.2_Missense_Mutation_p.F337L|PUM1_ENST00000423018.2_Missense_Mutation_p.F241L|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373741.4_Missense_Mutation_p.F373L|PUM1_ENST00000373742.2_Missense_Mutation_p.F277L|PUM1_ENST00000426105.2_Missense_Mutation_p.F337L|PUM1_ENST00000373747.3_Missense_Mutation_p.F337L	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	337					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CCATGTTGGAGAAATCCTCCA	0.532																																																	0													127.0	120.0	123.0					1																	31465384		2203	4300	6503	SO:0001583	missense	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1011C>G	1.37:g.31465384G>C	ENSP00000257075:p.Phe337Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.F337L	ENST00000257075.5	37	c.1011	CCDS338.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.08|16.08	3.020817|3.020817	0.54576|0.54576	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000257075;ENST00000373747;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952|ENST00000525843;ENST00000498419;ENST00000532678	T;T;T;T;T;T;T|.	0.20332|.	2.27;2.52;2.53;2.45;2.52;2.18;2.08|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57946|0.57946	0.2088|0.2088	L|L	0.49350|0.49350	1.555|1.555	0.58432|0.58432	D|D	0.999993|0.999993	B;B;P;B;P;P;P|.	0.41624|.	0.369;0.001;0.757;0.002;0.659;0.521;0.659|.	B;B;B;B;B;B;B|.	0.39590|.	0.101;0.001;0.304;0.002;0.2;0.2;0.2|.	T|T	0.55798|0.55798	-0.8084|-0.8084	10|5	0.37606|.	T|.	0.19|.	-8.3825|-8.3825	7.7624|7.7624	0.28959|0.28959	0.1388:0.1405:0.7207:0.0|0.1388:0.1405:0.7207:0.0	.|.	277;241;373;337;337;337;337|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4|.	.;.;.;.;PUM1_HUMAN;.;.|.	L|V	337;337;337;337;373;241;277;337|354;44;59	ENSP00000257075:F337L;ENSP00000362852:F337L;ENSP00000391723:F337L;ENSP00000401777:F337L;ENSP00000362846:F373L;ENSP00000399440:F241L;ENSP00000362847:F277L|.	ENSP00000257075:F337L|.	F|L	-|-	3|1	2|0	PUM1|PUM1	31237971|31237971	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.795000|1.795000	0.38784|0.38784	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	TTC|CTC	PUM1	-	NULL		0.532	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PUM1	HGNC	protein_coding	OTTHUMT00000010671.1	G			31465384	-1	no_errors	ENST00000426105	ensembl	human	known	70_37	missense	SNP	1.000	C
PUM1	9698	genome.wustl.edu	37	1	31478834	31478834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:31478834G>A	ENST00000257075.5	-	5	679	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	PUM1_ENST00000440538.2_Nonsense_Mutation_p.Q196*|PUM1_ENST00000423018.2_Intron|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373741.4_Nonsense_Mutation_p.Q232*|PUM1_ENST00000373742.2_Intron|PUM1_ENST00000426105.2_Nonsense_Mutation_p.Q196*|PUM1_ENST00000373747.3_Nonsense_Mutation_p.Q196*	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	196					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.Q196E(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGGAAACTCTGACCAGGTCTT	0.468																																																	1	Substitution - Missense(1)	urinary_tract(1)											122.0	116.0	118.0					1																	31478834		2203	4300	6503	SO:0001587	stop_gained	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.586C>T	1.37:g.31478834G>A	ENSP00000257075:p.Gln196*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Nonsense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.Q196*	ENST00000257075.5	37	c.586	CCDS338.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.520083|5.520083	0.96416|0.96416	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000257075;ENST00000373747;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000543952|ENST00000525843	.|.	.|.	.|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76652	.|0.4017	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74210	.|-0.3739	.|4	0.56958|.	D|.	0.05|.	-4.5333|-4.5333	20.0637|20.0637	0.97700|0.97700	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	196;196;196;196;232;196|212	.|.	ENSP00000257075:Q196X|.	Q|S	-|-	1|2	0|0	PUM1|PUM1	31251421|31251421	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.813000|9.813000	0.99286|0.99286	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	CAG|TCA	PUM1	-	NULL		0.468	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PUM1	HGNC	protein_coding	OTTHUMT00000010671.1	G			31478834	-1	no_errors	ENST00000426105	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PUS1	80324	genome.wustl.edu	37	12	132425950	132425950	+	Missense_Mutation	SNP	G	G	A	rs104894372		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:132425950G>A	ENST00000376649.3	+	5	1158	c.658G>A	c.(658-660)Gag>Aag	p.E220K	PUS1_ENST00000440818.2_Missense_Mutation_p.E192K|PUS1_ENST00000542167.2_Missense_Mutation_p.E167K|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000443358.2_Missense_Mutation_p.E192K	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	220					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CGTTCAGGATGAGACCTACCG	0.587																																					Esophageal Squamous(102;671 2009 17384 45666)												0			GRCh37	CM071064	PUS1	M	rs104894372						111.0	91.0	98.0					12																	132425950		2203	4300	6503	SO:0001583	missense	80324			AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.658G>A	12.37:g.132425950G>A	ENSP00000365837:p.Glu220Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA	p.E220K	ENST00000376649.3	37	c.658	CCDS9275.2	12	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993553	0.35131	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167;ENST00000537484	T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.9	5.37	5.37	0.77165	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);	0.166916	0.53938	D	0.000055	T	0.50120	0.1597	M	0.66506	2.035	0.32608	N	0.525029	B;B	0.22683	0.05;0.073	B;B	0.18561	0.022;0.017	T	0.55692	-0.8101	10	0.15952	T	0.53	-14.6998	15.4728	0.75453	0.0:0.1388:0.8612:0.0	.	167;220	F5H1S9;Q9Y606	.;TRUA_HUMAN	K	192;220;192;192;167;195	ENSP00000392451:E192K;ENSP00000365837:E220K;ENSP00000324726:E192K;ENSP00000400032:E192K;ENSP00000438948:E167K;ENSP00000440179:E195K	ENSP00000324726:E192K	E	+	1	0	PUS1	130991903	1.000000	0.71417	0.996000	0.52242	0.786000	0.44442	3.490000	0.53245	2.524000	0.85096	0.561000	0.74099	GAG	PUS1	-	superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA		0.587	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUS1	HGNC	protein_coding	OTTHUMT00000250313.2	G	NM_025215		132425950	+1	no_errors	ENST00000376649	ensembl	human	known	70_37	missense	SNP	0.550	A
PVRL2	5819	genome.wustl.edu	37	19	45391612	45391612	+	Silent	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:45391612C>A	ENST00000252483.5	+	9	1593	c.1593C>A	c.(1591-1593)gtC>gtA	p.V531V	TOMM40_ENST00000252487.5_5'Flank|TOMM40_ENST00000426677.2_5'Flank|TOMM40_ENST00000405636.2_5'Flank|TOMM40_ENST00000592434.1_5'Flank|CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	531					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		AAGGCTTTGTCATGTCCCGGG	0.542																																																	0													87.0	81.0	83.0					19																	45391612		1983	4164	6147	SO:0001819	synonymous_variant	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1593C>A	19.37:g.45391612C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V531	ENST00000252483.5	37	c.1593	CCDS42576.1	19																																																																																			PVRL2	-	NULL		0.542	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVRL2	HGNC	protein_coding	OTTHUMT00000453231.1	C	NM_002856		45391612	+1	no_errors	ENST00000252483	ensembl	human	known	70_37	silent	SNP	1.000	A
PVRL3	25945	genome.wustl.edu	37	3	110837554	110837554	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:110837554G>T	ENST00000485303.1	+	3	829	c.554G>T	c.(553-555)gGa>gTa	p.G185V	PVRL3_ENST00000319792.3_Missense_Mutation_p.G185V|PVRL3_ENST00000493615.1_Missense_Mutation_p.G162V	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	185	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						ATTGATGGAGGAAATGAAACA	0.378																																																	0													40.0	37.0	38.0					3																	110837554		2203	4300	6503	SO:0001583	missense	25945			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.554G>T	3.37:g.110837554G>T	ENSP00000418070:p.Gly185Val	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.G185V	ENST00000485303.1	37	c.554	CCDS2957.1	3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224278	0.79576	.	.	ENSG00000177707	ENST00000485303;ENST00000319792;ENST00000493615	T;T;T	0.75821	-0.97;-0.97;-0.97	5.6	5.6	0.85130	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.163490	0.53938	D	0.000054	T	0.81479	0.4831	L	0.55213	1.73	0.80722	D	1	D;P	0.67145	0.996;0.938	D;P	0.65323	0.934;0.637	T	0.82398	-0.0477	10	0.66056	D	0.02	.	12.8035	0.57598	0.0:0.1643:0.8356:0.0	.	162;185	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	V	185;185;162	ENSP00000418070:G185V;ENSP00000321514:G185V;ENSP00000420579:G162V	ENSP00000321514:G185V	G	+	2	0	PVRL3	112320244	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.797000	0.47877	2.648000	0.89879	0.650000	0.86243	GGA	PVRL3	-	pfam_CD80_C2-set,pfscan_Ig-like		0.378	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354045.1	G	NM_015480		110837554	+1	no_errors	ENST00000485303	ensembl	human	known	70_37	missense	SNP	1.000	T
PVRL3	25945	genome.wustl.edu	37	3	110863797	110863797	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:110863797G>C	ENST00000493615.1	+	6	1304	c.1052G>C	c.(1051-1053)gGa>gCa	p.G351A		NM_001243288.1	NP_001230217.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	154	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GCGGTAATTGGAGCTGTTCTT	0.368																																																	0																																										SO:0001583	missense	25945			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000493615.1:c.1052G>C	3.37:g.110863797G>C	ENSP00000420579:p.Gly351Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.G351A	ENST00000493615.1	37	c.1052	CCDS58843.1	3	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928933	0.34002	.	.	ENSG00000177707	ENST00000493615	T	0.16457	2.34	5.82	5.82	0.92795	.	.	.	.	.	T	0.40398	0.1115	.	.	.	0.34297	D	0.683891	D	0.76494	0.999	D	0.81914	0.995	T	0.46345	-0.9198	8	0.41790	T	0.15	.	15.5954	0.76574	0.0:0.0:1.0:0.0	.	351	E9PFR0	.	A	351	ENSP00000420579:G351A	ENSP00000420579:G351A	G	+	2	0	PVRL3	112346487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.223000	0.78033	2.767000	0.95098	0.655000	0.94253	GGA	PVRL3	-	NULL		0.368	PVRL3-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354046.1	G	NM_015480		110863797	+1	no_errors	ENST00000493615	ensembl	human	putative	70_37	missense	SNP	1.000	C
PXMP2	5827	genome.wustl.edu	37	12	133272473	133272473	+	Missense_Mutation	SNP	C	C	G	rs140744945	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:133272473C>G	ENST00000317479.3	+	3	305	c.240C>G	c.(238-240)ttC>ttG	p.F80L	PXMP2_ENST00000428960.2_5'UTR|PXMP2_ENST00000539093.1_Intron|PXMP2_ENST00000543589.1_Intron|RP13-672B3.2_ENST00000537262.1_Intron|PXMP2_ENST00000545677.1_Intron	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	80						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GCCTCAGGTTCTTCTTCACAG	0.577																																																	0													55.0	55.0	55.0					12																	133272473		2203	4300	6503	SO:0001583	missense	5827				CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.240C>G	12.37:g.133272473C>G	ENSP00000321271:p.Phe80Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Mpv17_PMP22	p.F80L	ENST00000317479.3	37	c.240	CCDS9279.1	12	.	.	.	.	.	.	.	.	.	.	C	0.433	-0.902493	0.02453	.	.	ENSG00000176894	ENST00000317479	D	0.89746	-2.56	5.36	2.45	0.29901	.	0.199841	0.47093	N	0.000247	T	0.68988	0.3061	N	0.11313	0.125	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.58956	-0.7544	10	0.02654	T	1	.	2.5706	0.04794	0.1447:0.5354:0.1502:0.1696	.	80	Q9NR77	PXMP2_HUMAN	L	80	ENSP00000321271:F80L	ENSP00000321271:F80L	F	+	3	2	PXMP2	131782546	1.000000	0.71417	0.997000	0.53966	0.508000	0.34012	0.549000	0.23329	0.617000	0.30160	0.655000	0.94253	TTC	PXMP2	-	NULL		0.577	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXMP2	HGNC	protein_coding	OTTHUMT00000397553.1	C	NM_018663		133272473	+1	no_errors	ENST00000317479	ensembl	human	known	70_37	missense	SNP	0.991	G
PYCR1	5831	genome.wustl.edu	37	17	79892976	79892976	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:79892976G>A	ENST00000329875.8	-	4	430	c.366C>T	c.(364-366)acC>acT	p.T122T	PYCR1_ENST00000337943.5_Silent_p.T122T|PYCR1_ENST00000577756.1_Silent_p.T122T|PYCR1_ENST00000402252.2_Silent_p.T149T|PYCR1_ENST00000403172.4_Silent_p.T122T|RP11-498C9.13_ENST00000583521.1_RNA	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	122					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	CTGGAGTGTTGGTCATGCAGC	0.647																																																	0													41.0	36.0	38.0					17																	79892976		2203	4298	6501	SO:0001819	synonymous_variant	5831				CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.366C>T	17.37:g.79892976G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Silent	SNP	pfam_NADP_OxRdtase_F420,pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	p.T122	ENST00000329875.8	37	c.366	CCDS11795.1	17																																																																																			PYCR1	-	pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase		0.647	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYCR1	HGNC	protein_coding	OTTHUMT00000441953.1	G			79892976	-1	no_errors	ENST00000329875	ensembl	human	known	70_37	silent	SNP	0.997	A
PYGB	5834	genome.wustl.edu	37	20	25258981	25258981	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:25258981G>A	ENST00000216962.4	+	8	992	c.882G>A	c.(880-882)ctG>ctA	p.L294L		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	294					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						AGCTGCGGCTGAAGCAGGAGT	0.627																																																	0													69.0	65.0	66.0					20																	25258981		2203	4300	6503	SO:0001819	synonymous_variant	5834				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.882G>A	20.37:g.25258981G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AK1|Q9NPX8	Silent	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.L294	ENST00000216962.4	37	c.882	CCDS13171.1	20																																																																																			PYGB	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.627	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	HGNC	protein_coding	OTTHUMT00000078415.2	G	NM_002862		25258981	+1	no_errors	ENST00000216962	ensembl	human	known	70_37	silent	SNP	1.000	A
QPRT	23475	genome.wustl.edu	37	16	29706186	29706186	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:29706186C>G	ENST00000395384.4	+	2	376	c.215C>G	c.(214-216)tCc>tGc	p.S72C	QPRT_ENST00000219771.7_Intron|QPRT_ENST00000562473.1_Intron	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	72					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|protein oligomerization (GO:0051259)|quinolinate catabolic process (GO:0034213)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	TGCCAAGTCTCCTGGTTCCTC	0.672																																																	0													69.0	71.0	70.0					16																	29706186		2197	4300	6497	SO:0001583	missense	23475			D78177	CCDS10651.1	16p11.2	2008-07-31	2008-07-31		ENSG00000103485	ENSG00000103485	2.4.2.19		9755	protein-coding gene	gene with protein product	"""nicotinate-nucleotide pyrophosphorylase (carboxylating)"""	606248				9473669	Standard	NM_014298		Approved	QPRTase	uc002dto.3	Q15274	OTTHUMG00000097770	ENST00000395384.4:c.215C>G	16.37:g.29706186C>G	ENSP00000378782:p.Ser72Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XW7|Q96G22|Q9BSG6	Missense_Mutation	SNP	pfam_Quinolinate_PRibosylTrfase_C,pfam_Quinolinate_PRibosylTrfase_N,superfamily_Quinolinate_PRibosylTrfase_C,tigrfam_NadC	p.S72C	ENST00000395384.4	37	c.215	CCDS10651.1	16	.	.	.	.	.	.	.	.	.	.	.	16.23	3.065742	0.55539	.	.	ENSG00000103485	ENST00000449759;ENST00000395384	T	0.32515	1.45	4.75	4.75	0.60458	Quinolinate phosphoribosyl transferase, N-terminal (2);	0.548055	0.18226	N	0.147720	T	0.40862	0.1134	L	0.60455	1.87	0.33961	D	0.645666	D	0.63880	0.993	P	0.52598	0.703	T	0.58014	-0.7711	10	0.87932	D	0	-25.516	10.8342	0.46677	0.1889:0.8111:0.0:0.0	.	72	Q15274	NADC_HUMAN	C	72	ENSP00000378782:S72C	ENSP00000378782:S72C	S	+	2	0	QPRT	29613687	0.002000	0.14202	0.993000	0.49108	0.681000	0.39784	1.073000	0.30691	2.340000	0.79590	0.546000	0.68486	TCC	QPRT	-	pfam_Quinolinate_PRibosylTrfase_N,tigrfam_NadC		0.672	QPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPRT	HGNC	protein_coding	OTTHUMT00000215011.2	C	NM_014298		29706186	+1	no_errors	ENST00000395384	ensembl	human	known	70_37	missense	SNP	0.503	G
QSER1	79832	genome.wustl.edu	37	11	32975573	32975573	+	Missense_Mutation	SNP	G	G	C	rs563561881		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:32975573G>C	ENST00000399302.2	+	5	4296	c.3961G>C	c.(3961-3963)Gat>Cat	p.D1321H	QSER1_ENST00000527788.1_Missense_Mutation_p.D1082H	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1321										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CATTGAACTTGATGGTCTTCC	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		20651	0.001		0.0	False		,,,				2504	0.0																0													91.0	87.0	88.0					11																	32975573		1905	4111	6016	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3961G>C	11.37:g.32975573G>C	ENSP00000382241:p.Asp1321His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.D1321H	ENST00000399302.2	37	c.3961	CCDS41631.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.067845|4.067845	0.76301|0.76301	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|T	0.27256|0.32753	2.02;1.68|1.44	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.164816|.	0.41500|.	D|.	0.000878|.	T|T	0.46658|0.46658	0.1404|0.1404	M|M	0.67953|0.67953	2.075|2.075	0.47659|0.47659	D|D	0.999489|0.999489	D;D;D|.	0.71674|.	0.998;0.969;0.983|.	D;P;P|.	0.63113|.	0.911;0.655;0.65|.	T|T	0.16012|0.16012	-1.0417|-1.0417	10|7	0.66056|0.33141	D|T	0.02|0.24	.|.	14.4782|14.4782	0.67562|0.67562	0.0698:0.0:0.9302:0.0|0.0698:0.0:0.9302:0.0	.|.	1082;1082;1321|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	H|F	1321;1082;1082|341	ENSP00000382241:D1321H;ENSP00000432766:D1082H|ENSP00000432136:L341F	ENSP00000078652:D1082H|ENSP00000432136:L341F	D|L	+|+	1|3	0|2	QSER1|QSER1	32932149|32932149	1.000000|1.000000	0.71417|0.71417	0.898000|0.898000	0.35279|0.35279	0.942000|0.942000	0.58702|0.58702	3.916000|3.916000	0.56416|0.56416	2.810000|2.810000	0.96702|0.96702	0.585000|0.585000	0.79938|0.79938	GAT|TTG	QSER1	-	NULL		0.433	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	G	NM_024774		32975573	+1	no_errors	ENST00000399302	ensembl	human	known	70_37	missense	SNP	1.000	C
RAB11FIP1	80223	genome.wustl.edu	37	8	37729373	37729373	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:37729373C>A	ENST00000330843.4	-	4	2959	c.2947G>T	c.(2947-2949)Gaa>Taa	p.E983*	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	983					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CCATCATCTTCAACCTGATCT	0.502																																																	0													147.0	116.0	126.0					8																	37729373		2203	4300	6503	SO:0001587	stop_gained	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2947G>T	8.37:g.37729373C>A	ENSP00000331342:p.Glu983*	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Nonsense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E983*	ENST00000330843.4	37	c.2947	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492695	0.84962	.	.	ENSG00000156675	ENST00000330843	.	.	.	0.18	0.18	0.15068	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	.	.	.	.	.	.	.	X	983	.	ENSP00000331342:E983X	E	-	1	0	RAB11FIP1	37848531	0.006000	0.16342	0.017000	0.16124	0.022000	0.10575	-0.403000	0.07214	0.284000	0.22305	0.289000	0.19496	GAA	RAB11FIP1	-	NULL		0.502	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	C	NM_025151		37729373	-1	no_errors	ENST00000330843	ensembl	human	known	70_37	nonsense	SNP	0.019	A
RAB19	401409	genome.wustl.edu	37	7	140125875	140125875	+	Silent	SNP	G	G	C	rs544128497	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:140125875G>C	ENST00000356407.3	+	3	647	c.579G>C	c.(577-579)ctG>ctC	p.L193L	RAB19_ENST00000537763.1_Silent_p.L193L|RAB19_ENST00000275874.5_Silent_p.L240L			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	193					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					AGAGTGCCCTGAACGGCCTCC	0.557																																																	0													79.0	73.0	75.0					7																	140125875		2203	4300	6503	SO:0001819	synonymous_variant	401409				CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.579G>C	7.37:g.140125875G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1S6|B2RTS6|B5MDR2|Q9UL27	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L240	ENST00000356407.3	37	c.720	CCDS34762.2	7																																																																																			RAB19	-	smart_Ran_GTPase		0.557	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB19	HGNC	protein_coding	OTTHUMT00000348740.1	G			140125875	+1	no_errors	ENST00000275874	ensembl	human	known	70_37	silent	SNP	0.000	C
RAB23	51715	genome.wustl.edu	37	6	57061377	57061377	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:57061377G>C	ENST00000317483.3	-	4	888	c.269C>G	c.(268-270)tCt>tGt	p.S90C	RAB23_ENST00000468148.1_Missense_Mutation_p.S90C	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	90					autophagic vacuole assembly (GO:0000045)|cellular defense response (GO:0006968)|cilium assembly (GO:0042384)|craniofacial suture morphogenesis (GO:0097094)|embryonic digit morphogenesis (GO:0042733)|GTP catabolic process (GO:0006184)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription factor import into nucleus (GO:0042992)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|small GTPase mediated signal transduction (GO:0007264)|spinal cord dorsal/ventral patterning (GO:0021513)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATCTGTGGTAGAGAACACGAG	0.378																																																	0													89.0	77.0	81.0					6																	57061377		2203	4300	6503	SO:0001583	missense	51715			AB034244	CCDS4962.1	6p12.1	2008-05-15			ENSG00000112210	ENSG00000112210		"""RAB, member RAS oncogene"""	14263	protein-coding gene	gene with protein product		606144					Standard	NM_016277		Approved		uc003pdt.3	Q9ULC3	OTTHUMG00000014918	ENST00000317483.3:c.269C>G	6.37:g.57061377G>C	ENSP00000320413:p.Ser90Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9I5|Q68DJ6|Q8NI06|Q9P023	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S90C	ENST00000317483.3	37	c.269	CCDS4962.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.196860	0.94960	.	.	ENSG00000112210	ENST00000317483;ENST00000468148	D;D	0.81579	-1.51;-1.51	6.17	6.17	0.99709	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92873	0.7733	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93388	0.6749	10	0.87932	D	0	-14.8652	20.8794	0.99867	0.0:0.0:1.0:0.0	.	90	Q9ULC3	RAB23_HUMAN	C	90	ENSP00000320413:S90C;ENSP00000417610:S90C	ENSP00000320413:S90C	S	-	2	0	RAB23	57169336	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.444000	0.97578	2.941000	0.99782	0.655000	0.94253	TCT	RAB23	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.378	RAB23-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB23	HGNC	protein_coding	OTTHUMT00000041042.1	G			57061377	-1	no_errors	ENST00000317483	ensembl	human	known	70_37	missense	SNP	1.000	C
RAB26	25837	genome.wustl.edu	37	16	2201859	2201859	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2201859C>G	ENST00000210187.6	+	5	578	c.418C>G	c.(418-420)Ctg>Gtg	p.L140V	RP11-304L19.5_ENST00000563192.1_lincRNA|RAB26_ENST00000541451.1_Missense_Mutation_p.L74V	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	140					exocrine system development (GO:0035272)|Golgi to plasma membrane protein transport (GO:0043001)|regulated secretory pathway (GO:0045055)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	Golgi membrane (GO:0000139)|intrinsic component of plasma membrane (GO:0031226)|secretory granule membrane (GO:0030667)	GMP binding (GO:0019002)|GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(3)	5						GTCCCCAGCTCTGCTGCTGCT	0.617																																																	0													91.0	76.0	81.0					16																	2201859		2197	4299	6496	SO:0001583	missense	25837			AB027137	CCDS10460.1	16p13.3	2008-07-28			ENSG00000167964	ENSG00000167964		"""RAB, member RAS oncogene"""	14259	protein-coding gene	gene with protein product		605455				11043516	Standard	NM_014353		Approved		uc002cou.3	Q9ULW5	OTTHUMG00000128829	ENST00000210187.6:c.418C>G	16.37:g.2201859C>G	ENSP00000210187:p.Leu140Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAA6|Q3L6K5|Q6NXS7	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L140V	ENST00000210187.6	37	c.418	CCDS10460.1	16	.	.	.	.	.	.	.	.	.	.	C	11.74	1.730179	0.30684	.	.	ENSG00000167964	ENST00000541451;ENST00000210187	T;T	0.78707	-1.2;-1.2	4.2	2.19	0.27852	Small GTP-binding protein domain (1);	0.000000	0.53938	D	0.000056	T	0.54854	0.1884	N	0.00277	-1.72	0.45330	D	0.998324	P	0.49447	0.924	P	0.56563	0.801	T	0.67094	-0.5757	10	0.87932	D	0	.	8.2558	0.31756	0.0:0.7534:0.1569:0.0897	.	140	Q9ULW5	RAB26_HUMAN	V	74;140	ENSP00000441580:L74V;ENSP00000210187:L140V	ENSP00000210187:L140V	L	+	1	2	RAB26	2141860	0.942000	0.31987	0.022000	0.16811	0.759000	0.43091	1.948000	0.40303	0.398000	0.25338	0.305000	0.20034	CTG	RAB26	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.617	RAB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB26	HGNC	protein_coding	OTTHUMT00000250767.2	C			2201859	+1	no_errors	ENST00000210187	ensembl	human	known	70_37	missense	SNP	0.603	G
RAB2B	84932	genome.wustl.edu	37	14	21929394	21929394	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:21929394C>T	ENST00000397762.1	-	8	712	c.612G>A	c.(610-612)cgG>cgA	p.R204R	RAB2B_ENST00000461909.1_5'Flank	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	204					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		CACGAGAGTTCCGCTGGGAGG	0.473																																					Melanoma(131;1007 1750 28652 34486 42672)												0													145.0	140.0	142.0					14																	21929394		2203	4300	6503	SO:0001819	synonymous_variant	84932			AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"""RAB, member RAS oncogene"""	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.612G>A	14.37:g.21929394C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD03|D3DS24|Q6NZ33	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R204	ENST00000397762.1	37	c.612	CCDS9570.1	14																																																																																			RAB2B	-	smart_Ran_GTPase		0.473	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2B	HGNC	protein_coding	OTTHUMT00000074053.4	C			21929394	-1	no_errors	ENST00000397762	ensembl	human	known	70_37	silent	SNP	0.033	T
RAB31	11031	genome.wustl.edu	37	18	9845603	9845603	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:9845603G>C	ENST00000578921.1	+	6	646	c.405G>C	c.(403-405)aaG>aaC	p.K135N	RNA5SP449_ENST00000516871.1_RNA	NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	134					cellular response to insulin stimulus (GO:0032869)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|receptor internalization (GO:0031623)|regulated secretory pathway (GO:0045055)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						AGGATGCTAAGGAATACGCTG	0.403																																																	0													71.0	64.0	66.0					18																	9845603		1925	4119	6044	SO:0001583	missense	11031			U59877	CCDS45826.1	18p11.22	2014-03-18			ENSG00000168461	ENSG00000168461		"""RAB, member RAS oncogene"""	9771	protein-coding gene	gene with protein product		605694				8863739	Standard	NM_006868		Approved	Rab22B	uc002kog.2	Q13636	OTTHUMG00000178513	ENST00000578921.1:c.405G>C	18.37:g.9845603G>C	ENSP00000461945:p.Lys135Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBT7|Q15770|Q9HC00	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K135N	ENST00000578921.1	37	c.405	CCDS45826.1	18	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707395	0.48412	.	.	ENSG00000168461	ENST00000306096;ENST00000435762	.	.	.	4.95	4.08	0.47627	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	N	0.25890	0.77	0.58432	D	0.99999	B	0.29835	0.258	B	0.40256	0.324	T	0.29761	-1.0001	8	.	.	.	-4.7971	6.4961	0.22144	0.3186:0.0:0.6813:0.0	.	134	Q13636	RAB31_HUMAN	N	135;126	.	.	K	+	3	2	RAB31	9835603	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.240000	0.43088	1.084000	0.41184	-0.145000	0.13849	AAG	RAB31	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.403	RAB31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB31	HGNC	protein_coding	OTTHUMT00000442280.3	G			9845603	+1	no_errors	ENST00000306096	ensembl	human	known	70_37	missense	SNP	1.000	C
RAB37	326624	genome.wustl.edu	37	17	72741031	72741031	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:72741031G>C	ENST00000392613.5	+	7	508	c.452G>C	c.(451-453)aGa>aCa	p.R151T	RAB37_ENST00000392610.1_Missense_Mutation_p.R151T|RAB37_ENST00000402449.4_Missense_Mutation_p.R144T|RAB37_ENST00000392612.3_Missense_Mutation_p.R114T|MIR3615_ENST00000585285.1_RNA|RAB37_ENST00000340415.3_Missense_Mutation_p.R144T|RAB37_ENST00000392614.4_Missense_Mutation_p.R156T|RAB37_ENST00000392615.5_Missense_Mutation_p.R119T|RAB37_ENST00000528438.1_Missense_Mutation_p.R124T	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	151					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						AGCAGCGAAAGAGTGATCCGT	0.612											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													110.0	92.0	98.0					17																	72741031		2203	4300	6503	SO:0001583	missense	326624			BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.452G>C	17.37:g.72741031G>C	ENSP00000376389:p.Arg151Thr	Somatic	1139	WXS	Illumina HiSeq	Phase_IV	A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R156T	ENST00000392613.5	37	c.467	CCDS32722.1	17	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251641	0.80135	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000528438;ENST00000392615;ENST00000392614;ENST00000392613;ENST00000392612;ENST00000392610	T;T;T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.33	5.33	0.75918	Small GTP-binding protein domain (1);	0.098289	0.64402	D	0.000003	D	0.90553	0.7039	M	0.85710	2.77	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.996;0.99;0.997;0.997;0.998;0.992	D	0.91764	0.5422	10	0.87932	D	0	.	16.3088	0.82862	0.0:0.0:1.0:0.0	.	114;119;156;144;151;144	A8MXF5;A8MZI4;A8MYT0;Q96AX2-2;Q96AX2;A8MSP2	.;.;.;.;RAB37_HUMAN;.	T	144;144;144;124;119;156;151;114;151	ENSP00000341354:R144T;ENSP00000383934:R144T;ENSP00000432086:R124T;ENSP00000376391:R119T;ENSP00000376390:R156T;ENSP00000376389:R151T;ENSP00000376388:R114T;ENSP00000376387:R151T	ENSP00000341354:R144T	R	+	2	0	RAB37	70252626	1.000000	0.71417	0.963000	0.40424	0.661000	0.39034	5.608000	0.67654	2.654000	0.90174	0.561000	0.74099	AGA	RAB37	-	pfam_Small_GTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.612	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB37	HGNC	protein_coding	OTTHUMT00000258872.2	G	NM_175738		72741031	+1	no_errors	ENST00000392614	ensembl	human	known	70_37	missense	SNP	1.000	C
RAB3C	115827	genome.wustl.edu	37	5	57879050	57879050	+	Silent	SNP	G	G	A	rs113855367		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:57879050G>A	ENST00000282878.4	+	1	184	c.15G>A	c.(13-15)gcG>gcA	p.A5A		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	5					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		GACACGAAGCGCCCATGCAGG	0.562																																																	0													120.0	112.0	115.0					5																	57879050		2203	4300	6503	SO:0001819	synonymous_variant	115827			AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.15G>A	5.37:g.57879050G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A5	ENST00000282878.4	37	c.15	CCDS3976.1	5																																																																																			RAB3C	-	NULL		0.562	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3C	HGNC	protein_coding	OTTHUMT00000214156.2	G	NM_138453		57879050	+1	no_errors	ENST00000282878	ensembl	human	known	70_37	silent	SNP	1.000	A
RAB3IL1	5866	genome.wustl.edu	37	11	61665758	61665758	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:61665758C>T	ENST00000394836.2	-	10	1298	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.E355K	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	381					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CCCTAAGCCTCCTGGGGGAAG	0.627											OREG0021017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													138.0	148.0	145.0					11																	61665758		2202	4299	6501	SO:0001583	missense	5866			AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.1141G>A	11.37:g.61665758C>T	ENSP00000378313:p.Glu381Lys	Somatic	1055	WXS	Illumina HiSeq	Phase_IV	Q86V32|Q9P1Q8	Missense_Mutation	SNP	pfam_Sec2p	p.E381K	ENST00000394836.2	37	c.1141	CCDS8014.1	11	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337755	0.81911	.	.	ENSG00000167994	ENST00000394836;ENST00000301773;ENST00000526200	T;T	0.40756	1.02;1.1	4.71	4.71	0.59529	.	0.069284	0.56097	D	0.000023	T	0.60894	0.2304	M	0.78223	2.4	0.58432	D	0.999999	D;D	0.62365	0.991;0.983	P;P	0.56163	0.793;0.656	T	0.68780	-0.5318	10	0.87932	D	0	-2.9433	17.2468	0.87030	0.0:1.0:0.0:0.0	.	355;381	Q8TBN0-2;Q8TBN0	.;R3GEF_HUMAN	K	381;355;64	ENSP00000378313:E381K;ENSP00000301773:E355K	ENSP00000301773:E355K	E	-	1	0	RAB3IL1	61422334	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.282000	0.58971	2.173000	0.68751	0.462000	0.41574	GAG	RAB3IL1	-	NULL		0.627	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3IL1	HGNC	protein_coding	OTTHUMT00000394917.1	C	NM_013401		61665758	-1	no_errors	ENST00000394836	ensembl	human	known	70_37	missense	SNP	1.000	T
RAB6C	84084	genome.wustl.edu	37	2	130737913	130737913	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:130737913C>G	ENST00000410061.2	+	1	679	c.225C>G	c.(223-225)ctC>ctG	p.L75L	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	75	Required for centrosome localization.				cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AGGAACGTCTCCGTAGCCTCA	0.448																																																	0													16.0	18.0	17.0					2																	130737913		2143	4241	6384	SO:0001819	synonymous_variant	84084			AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"""RAB, member RAS oncogene"""	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.225C>G	2.37:g.130737913C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53RU3|Q6FIF7|Q9P128	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L75	ENST00000410061.2	37	c.225	CCDS46408.1	2																																																																																			RAB6C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.448	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB6C	HGNC	protein_coding	OTTHUMT00000331384.1	C	NM_032144		130737913	+1	no_errors	ENST00000410061	ensembl	human	known	70_37	silent	SNP	1.000	G
RAB6C	84084	genome.wustl.edu	37	2	130738343	130738343	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:130738343C>G	ENST00000410061.2	+	1	1109	c.655C>G	c.(655-657)Cag>Gag	p.Q219E	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	219					cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AACCCTTCCTCAGAAGCCCCC	0.448																																																	0													38.0	36.0	36.0					2																	130738343		1950	4144	6094	SO:0001583	missense	84084			AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"""RAB, member RAS oncogene"""	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.655C>G	2.37:g.130738343C>G	ENSP00000387307:p.Gln219Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53RU3|Q6FIF7|Q9P128	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q219E	ENST00000410061.2	37	c.655	CCDS46408.1	2	.	.	.	.	.	.	.	.	.	.	c	1.200	-0.632878	0.03584	.	.	ENSG00000222014	ENST00000410061	T	0.67171	-0.25	0.49	0.49	0.16861	.	.	.	.	.	T	0.40909	0.1136	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31888	-0.9927	9	0.72032	D	0.01	.	3.5549	0.07861	0.4398:0.56:1.0E-4:1.0E-4	.	219	Q9H0N0	RAB6C_HUMAN	E	219	ENSP00000387307:Q219E	ENSP00000387307:Q219E	Q	+	1	0	RAB6C	130454813	0.956000	0.32656	0.151000	0.22473	0.235000	0.25334	1.260000	0.32968	0.519000	0.28406	0.121000	0.15741	CAG	RAB6C	-	NULL		0.448	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB6C	HGNC	protein_coding	OTTHUMT00000331384.1	C	NM_032144		130738343	+1	no_errors	ENST00000410061	ensembl	human	known	70_37	missense	SNP	0.160	G
RAD21	5885	genome.wustl.edu	37	8	117878870	117878870	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:117878870G>A	ENST00000297338.2	-	2	386	c.99C>T	c.(97-99)ttC>ttT	p.F33F	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	33					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AATTACACTCGAACACATGGG	0.403																																																	0													85.0	76.0	79.0					8																	117878870		2203	4300	6503	SO:0001819	synonymous_variant	5885			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.99C>T	8.37:g.117878870G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0E0|Q15001|Q99568	Silent	SNP	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA	p.F33	ENST00000297338.2	37	c.99	CCDS6321.1	8																																																																																			RAD21	-	pfam_Rad21_Rec8_N		0.403	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	HGNC	protein_coding	OTTHUMT00000381184.1	G	NM_006265		117878870	-1	no_errors	ENST00000297338	ensembl	human	known	70_37	silent	SNP	0.996	A
RAD50	10111	genome.wustl.edu	37	5	131923747	131923747	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:131923747C>G	ENST00000265335.6	+	7	1404	c.1017C>G	c.(1015-1017)ctC>ctG	p.L339L	RAD50_ENST00000487596.1_3'UTR|RAD50_ENST00000378823.3_Silent_p.L200L			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	339					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTAGGCTTCTCAATCAGGAAA	0.343								Homologous recombination																																									0													78.0	73.0	75.0					5																	131923747		2203	4300	6503	SO:0001819	synonymous_variant	10111			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1017C>G	5.37:g.131923747C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50	p.L339	ENST00000265335.6	37	c.1017	CCDS34233.1	5																																																																																			RAD50	-	tigrfam_Rad50		0.343	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	HGNC	protein_coding	OTTHUMT00000132566.5	C	NM_005732		131923747	+1	no_errors	ENST00000265335	ensembl	human	known	70_37	silent	SNP	0.993	G
RAD51AP2	729475	genome.wustl.edu	37	2	17698314	17698314	+	Missense_Mutation	SNP	C	C	T	rs528026645		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:17698314C>T	ENST00000399080.2	-	1	1392	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	457										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTGATTGTTCTTCATATGCA	0.318																																																	0													66.0	60.0	62.0					2																	17698314		1825	4080	5905	SO:0001583	missense	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1369G>A	2.37:g.17698314C>T	ENSP00000382030:p.Glu457Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E457K	ENST00000399080.2	37	c.1369	CCDS42656.1	2	.	.	.	.	.	.	.	.	.	.	C	4.287	0.052529	0.08291	.	.	ENSG00000214842	ENST00000399080	T	0.21734	1.99	4.63	1.69	0.24217	.	.	.	.	.	T	0.09774	0.0240	N	0.11560	0.145	0.09310	N	1	B	0.23891	0.093	B	0.19666	0.026	T	0.39292	-0.9621	9	0.18276	T	0.48	.	7.5584	0.27837	0.0:0.6284:0.0:0.3716	.	457	Q09MP3	R51A2_HUMAN	K	457	ENSP00000382030:E457K	ENSP00000382030:E457K	E	-	1	0	RAD51AP2	17561795	0.015000	0.18098	0.000000	0.03702	0.011000	0.07611	0.296000	0.19083	0.199000	0.20427	0.563000	0.77884	GAA	RAD51AP2	-	NULL		0.318	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD51AP2	HGNC	protein_coding	OTTHUMT00000323801.3	C	NM_001099218		17698314	-1	no_errors	ENST00000399080	ensembl	human	known	70_37	missense	SNP	0.000	T
RAD51D	5892	genome.wustl.edu	37	17	33433235	33433235	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:33433235G>A	ENST00000345365.6	-	6	832				RAD51D_ENST00000394589.4_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000590380.1_Intron|RAD51D_ENST00000460118.2_Intron|RAD51D_ENST00000360276.3_Intron|RAD51D_ENST00000335858.7_Intron|RAD51D_ENST00000590016.1_Intron	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D						ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						tgtaaacaATGAGGTATGTGA	0.453								Direct reversal of damage																																									0													92.0	78.0	82.0					17																	33433235		876	1991	2867	SO:0001627	intron_variant	5892			AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"""recombination repair protein"", ""DNA repair protein RAD51 homolog 4"""	602954	"""RAD51 (S. cerevisiae)-like 3"", ""RAD51-like 3 (S. cerevisiae)"", ""RAD51 homolog D (S. cerevisiae)"""	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.576+169C>T	17.37:g.33433235G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Missense_Mutation	SNP	NULL	p.H85Y	ENST00000345365.6	37	c.253	CCDS11287.1	17	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321138	0.23994	.	.	ENSG00000185379	ENST00000415064	.	.	.	3.01	1.0	0.19881	.	.	.	.	.	T	0.36468	0.0968	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31110	-0.9955	5	0.49607	T	0.09	.	5.2089	0.15307	0.277:0.0:0.723:0.0	.	.	.	.	Y	207	.	ENSP00000412128:H207Y	H	-	1	0	RAD51D	30457348	0.000000	0.05858	0.006000	0.13384	0.160000	0.22226	-0.041000	0.12084	0.329000	0.23460	0.591000	0.81541	CAT	RAD51D	-	NULL		0.453	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD51D	HGNC	protein_coding	OTTHUMT00000256446.1	G	NM_002878		33433235	-1	no_errors	ENST00000588372	ensembl	human	known	70_37	missense	SNP	0.009	A
RAD51D	5892	genome.wustl.edu	37	17	33448464	33448464	+	5'Flank	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:33448464C>G	ENST00000345365.6	-	0	0				RAD51D_ENST00000394589.4_5'Flank|RAD51L3-RFFL_ENST00000593039.1_5'UTR|RAD51D_ENST00000590380.1_5'Flank|RAD51D_ENST00000460118.2_5'Flank|RAD51D_ENST00000360276.3_5'Flank|FNDC8_ENST00000158009.5_5'Flank|RAD51D_ENST00000357906.3_5'Flank|RAD51D_ENST00000335858.7_5'Flank|RAD51D_ENST00000590016.1_5'Flank	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D						ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ttacCCCTCTCATGATGCTGC	0.557								Direct reversal of damage																																									0																																										SO:0001631	upstream_gene_variant	5892			AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"""recombination repair protein"", ""DNA repair protein RAD51 homolog 4"""	602954	"""RAD51 (S. cerevisiae)-like 3"", ""RAD51-like 3 (S. cerevisiae)"", ""RAD51 homolog D (S. cerevisiae)"""	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930		17.37:g.33448464C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	RNA	SNP	-	NULL	ENST00000345365.6	37	NULL	CCDS11287.1	17																																																																																			RAD51D	-	-		0.557	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD51D	HGNC	protein_coding	OTTHUMT00000256446.1	C	NM_002878		33448464	-1	no_errors	ENST00000415064	ensembl	human	known	70_37	rna	SNP	0.000	G
RAD54B	25788	genome.wustl.edu	37	8	95390835	95390835	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:95390835G>A	ENST00000336148.5	-	13	2399	c.2275C>T	c.(2275-2277)Cag>Tag	p.Q759*		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	759	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GGATATTTCTGACCATCTCTC	0.343								Direct reversal of damage;Homologous recombination																																									0													92.0	95.0	94.0					8																	95390835		2203	4300	6503	SO:0001587	stop_gained	25788			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2275C>T	8.37:g.95390835G>A	ENSP00000336606:p.Gln759*	Somatic		WXS	Illumina HiSeq	Phase_IV	F6WBS8	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q759*	ENST00000336148.5	37	c.2275	CCDS6262.1	8	.	.	.	.	.	.	.	.	.	.	G	39	7.570279	0.98365	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	.	.	.	5.76	5.76	0.90799	.	0.109676	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.7494	19.9596	0.97236	0.0:0.0:1.0:0.0	.	.	.	.	X	759;431	.	ENSP00000336606:Q759X	Q	-	1	0	RAD54B	95460011	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.355000	0.97087	2.726000	0.93360	0.655000	0.94253	CAG	RAD54B	-	pfam_HDA_complex_subunit-2/3,pfscan_Helicase_C		0.343	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3	G	NM_012415		95390835	-1	no_errors	ENST00000336148	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RAD54B	25788	genome.wustl.edu	37	8	95479678	95479678	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:95479678C>G	ENST00000336148.5	-	2	214	c.90G>C	c.(88-90)ctG>ctC	p.L30L	RAD54B_ENST00000297592.5_Silent_p.L30L	NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	30			L -> V (in dbSNP:rs28910279).		ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TCTCTTCATTCAGACCTGGAT	0.348								Direct reversal of damage;Homologous recombination																																									0													124.0	122.0	123.0					8																	95479678		2203	4300	6503	SO:0001819	synonymous_variant	25788			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.90G>C	8.37:g.95479678C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	F6WBS8	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L30	ENST00000336148.5	37	c.90	CCDS6262.1	8																																																																																			RAD54B	-	NULL		0.348	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3	C	NM_012415		95479678	-1	no_errors	ENST00000336148	ensembl	human	known	70_37	silent	SNP	0.011	G
RAET1G	353091	genome.wustl.edu	37	6	150240369	150240369	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:150240369G>C	ENST00000367360.2	-	3	508	c.441C>G	c.(439-441)atC>atG	p.I147M	RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.I147M|RAET1E-AS1_ENST00000446954.2_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		AGAGGAGGAAGATCTGTCCAT	0.507																																																	0													212.0	195.0	201.0					6																	150240369		2203	4300	6503	SO:0001583	missense	353091			AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.441C>G	6.37:g.150240369G>C	ENSP00000356329:p.Ile147Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.I147M	ENST00000367360.2	37	c.441	CCDS43514.1	6	.	.	.	.	.	.	.	.	.	.	G	1.290	-0.607820	0.03717	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.00700	5.82;5.82	2.4	-4.79	0.03200	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00241	0.0007	N	0.11927	0.2	0.09310	N	1	B	0.29188	0.236	B	0.41174	0.349	T	0.47289	-0.9129	9	0.62326	D	0.03	.	1.1859	0.01855	0.1518:0.2265:0.1568:0.4649	.	147	Q6H3X3	RET1G_HUMAN	M	147	ENSP00000356329:I147M;ENSP00000417503:I147M	ENSP00000356329:I147M	I	-	3	3	RAET1G	150282062	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.628000	0.00410	-1.753000	0.01323	-1.325000	0.01285	ATC	RAET1G	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.507	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAET1G	HGNC	protein_coding	OTTHUMT00000042668.2	G			150240369	-1	no_errors	ENST00000367360	ensembl	human	known	70_37	missense	SNP	0.000	C
RAG1	5896	genome.wustl.edu	37	11	36596661	36596661	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:36596661G>C	ENST00000299440.5	+	2	1919	c.1807G>C	c.(1807-1809)Gat>Cat	p.D603H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	603					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAGTCTTGTGATGGAATGGG	0.463									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)												0													111.0	92.0	98.0					11																	36596661		2202	4298	6500	SO:0001583	missense	5896	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1807G>C	11.37:g.36596661G>C	ENSP00000299440:p.Asp603His	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING	p.D603H	ENST00000299440.5	37	c.1807	CCDS7902.1	11	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961428	0.74016	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.91996	-2.95;-2.95	5.92	5.92	0.95590	.	0.056069	0.64402	D	0.000001	D	0.97682	0.9240	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98137	1.0434	10	0.87932	D	0	.	20.3724	0.98894	0.0:0.0:1.0:0.0	.	603	P15918	RAG1_HUMAN	H	603	ENSP00000434610:D603H;ENSP00000299440:D603H	ENSP00000299440:D603H	D	+	1	0	RAG1	36553237	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	9.476000	0.97823	2.818000	0.97014	0.644000	0.83932	GAT	RAG1	-	NULL		0.463	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG1	HGNC	protein_coding	OTTHUMT00000389535.1	G	NM_000448		36596661	+1	no_errors	ENST00000299440	ensembl	human	known	70_37	missense	SNP	1.000	C
RAI1	10743	genome.wustl.edu	37	17	17699089	17699089	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:17699089G>C	ENST00000353383.1	+	3	3296	c.2827G>C	c.(2827-2829)Gag>Cag	p.E943Q	RAI1_ENST00000261641.6_Missense_Mutation_p.E943Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	943					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GAGCTGGTTTGAGTCCTCTCT	0.642																																																	0													53.0	52.0	52.0					17																	17699089		2203	4300	6503	SO:0001583	missense	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2827G>C	17.37:g.17699089G>C	ENSP00000323074:p.Glu943Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	smart_Znf_PHD	p.E943Q	ENST00000353383.1	37	c.2827	CCDS11188.1	17	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483911	0.63962	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T	0.67698	-0.28;0.32	5.0	3.96	0.45880	.	0.091527	0.45867	D	0.000324	T	0.68659	0.3025	L	0.54323	1.7	0.29795	N	0.832937	D	0.56521	0.976	P	0.54815	0.761	T	0.66881	-0.5811	10	0.52906	T	0.07	.	8.2574	0.31765	0.0895:0.0:0.7523:0.1581	.	943	Q7Z5J4	RAI1_HUMAN	Q	943;943;943;943;895	ENSP00000323074:E943Q;ENSP00000261641:E943Q	ENSP00000261641:E943Q	E	+	1	0	RAI1	17639814	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	3.084000	0.50143	2.343000	0.79666	0.491000	0.48974	GAG	RAI1	-	NULL		0.642	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1	G	NM_030665		17699089	+1	no_errors	ENST00000353383	ensembl	human	known	70_37	missense	SNP	0.984	C
RALGAPA1	253959	genome.wustl.edu	37	14	36159158	36159158	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:36159158G>A	ENST00000389698.3	-	17	2708	c.2318C>T	c.(2317-2319)tCa>tTa	p.S773L	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S773L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S773L|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.S820L	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	773					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCACTTTGTGAAAAATGTCT	0.363																																																	0													63.0	64.0	64.0					14																	36159158		2203	4297	6500	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.2318C>T	14.37:g.36159158G>A	ENSP00000374348:p.Ser773Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.S820L	ENST00000389698.3	37	c.2459	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611948	0.66558	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	D;D;D;D;D	0.96300	-3.55;-3.55;-3.97;-3.52;-3.97	5.97	5.97	0.96955	.	0.062442	0.64402	D	0.000003	D	0.96923	0.8995	L	0.41236	1.265	0.58432	D	0.999999	D;D;D;D;P	0.69078	0.997;0.994;0.997;0.996;0.932	D;D;D;D;B	0.81914	0.993;0.983;0.995;0.99;0.445	D	0.94786	0.7958	10	0.18276	T	0.48	-12.2228	20.4387	0.99107	0.0:0.0:1.0:0.0	.	820;773;820;773;773	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	L	773;773;773;820;773;820	ENSP00000374348:S773L;ENSP00000302647:S773L;ENSP00000258840:S820L;ENSP00000371803:S773L;ENSP00000451877:S820L	ENSP00000258840:S820L	S	-	2	0	RALGAPA1	35228909	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.816000	0.91979	2.836000	0.97738	0.655000	0.94253	TCA	RALGAPA1	-	NULL		0.363	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	G	XM_210022		36159158	-1	no_errors	ENST00000258840	ensembl	human	known	70_37	missense	SNP	1.000	A
RALGAPA2	57186	genome.wustl.edu	37	20	20621513	20621513	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:20621513C>T	ENST00000202677.7	-	6	389	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	128					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTGATTCCTTCACATCTTATC	0.383																																																	0													46.0	44.0	44.0					20																	20621513		1868	4111	5979	SO:0001583	missense	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.382G>A	20.37:g.20621513C>T	ENSP00000202677:p.Glu128Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.E128K	ENST00000202677.7	37	c.382	CCDS46584.1	20	.	.	.	.	.	.	.	.	.	.	C	34	5.391357	0.95988	.	.	ENSG00000188559	ENST00000202677;ENST00000438161	T;T	0.64085	-0.08;-0.08	5.62	5.62	0.85841	.	0.000000	0.85682	U	0.000000	T	0.81394	0.4813	M	0.84683	2.71	0.58432	D	0.999999	D	0.71674	0.998	D	0.65874	0.939	T	0.82456	-0.0448	9	.	.	.	.	19.6604	0.95864	0.0:1.0:0.0:0.0	.	128	Q2PPJ7	RGPA2_HUMAN	K	128	ENSP00000202677:E128K;ENSP00000412795:E128K	.	E	-	1	0	RALGAPA2	20569513	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.368000	0.79567	2.662000	0.90505	0.591000	0.81541	GAA	RALGAPA2	-	NULL		0.383	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	C	NM_020343		20621513	-1	no_errors	ENST00000202677	ensembl	human	known	70_37	missense	SNP	1.000	T
RALGDS	5900	genome.wustl.edu	37	9	135973188	135973188	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:135973188C>T	ENST00000372050.3	-	0	3552				RALGDS_ENST00000393160.3_3'UTR|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_3'UTR|RALGDS_ENST00000393157.3_3'UTR	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator						neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CCTCCCCAATCAGTAAACAAA	0.353			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)			Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0																																										SO:0001624	3_prime_UTR_variant	5900			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.*786G>A	9.37:g.135973188C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	RNA	SNP	-	NULL	ENST00000372050.3	37	NULL	CCDS6959.1	9																																																																																			RALGDS	-	-		0.353	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALGDS	HGNC	protein_coding	OTTHUMT00000054837.1	C	NM_006266		135973188	-1	no_errors	ENST00000469972	ensembl	human	known	70_37	rna	SNP	0.879	T
RANBP2	5903	genome.wustl.edu	37	2	109381352	109381352	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:109381352C>T	ENST00000283195.6	+	20	4483	c.4357C>T	c.(4357-4359)Cat>Tat	p.H1453Y		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1453					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTCATTTGTTCATCAAGCTTC	0.363																																																	0													77.0	76.0	76.0					2																	109381352		2203	4300	6503	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4357C>T	2.37:g.109381352C>T	ENSP00000283195:p.His1453Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.H1453Y	ENST00000283195.6	37	c.4357	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	C	4.936	0.173858	0.09391	.	.	ENSG00000153201	ENST00000283195	T	0.28255	1.62	4.55	1.61	0.23674	.	.	.	.	.	T	0.15219	0.0367	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.23084	-1.0198	9	0.48119	T	0.1	2.816	7.1135	0.25403	0.4453:0.4761:0.0:0.0786	.	1453	P49792	RBP2_HUMAN	Y	1453	ENSP00000283195:H1453Y	ENSP00000283195:H1453Y	H	+	1	0	RANBP2	108747784	0.397000	0.25270	0.610000	0.28997	0.941000	0.58515	1.073000	0.30691	0.007000	0.14760	0.655000	0.94253	CAT	RANBP2	-	NULL		0.363	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	C	NM_006267		109381352	+1	no_errors	ENST00000283195	ensembl	human	known	70_37	missense	SNP	0.137	T
RANBP2	5903	genome.wustl.edu	37	2	109383853	109383853	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:109383853G>C	ENST00000283195.6	+	20	6984	c.6858G>C	c.(6856-6858)caG>caC	p.Q2286H		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2286					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Q2286Q(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGTTGAATCAGAGTGGGACTT	0.393																																																	2	Substitution - coding silent(2)	lung(2)											52.0	59.0	57.0					2																	109383853		2190	4272	6462	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6858G>C	2.37:g.109383853G>C	ENSP00000283195:p.Gln2286His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.Q2286H	ENST00000283195.6	37	c.6858	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420829	0.42918	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.29397	1.57	5.8	4.93	0.64822	.	.	.	.	.	T	0.17534	0.0421	N	0.19112	0.55	0.32140	N	0.585668	P	0.36599	0.56	B	0.31547	0.132	T	0.17715	-1.0360	9	0.52906	T	0.07	-13.5524	6.9492	0.24536	0.1429:0.0:0.7156:0.1415	.	2286	P49792	RBP2_HUMAN	H	1310;2286	ENSP00000283195:Q2286H	ENSP00000283195:Q2286H	Q	+	3	2	RANBP2	108750285	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.393000	0.52544	1.465000	0.48006	0.455000	0.32223	CAG	RANBP2	-	NULL		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	G	NM_006267		109383853	+1	no_errors	ENST00000283195	ensembl	human	known	70_37	missense	SNP	1.000	C
RAPGEF1	2889	genome.wustl.edu	37	9	134503309	134503309	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:134503309C>T	ENST00000372189.3	-	9	1264	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.E399K|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.E398K	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	381					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCTAGTGTTTCACAGCTTGTG	0.597																																																	0													46.0	53.0	50.0					9																	134503309		2159	4258	6417	SO:0001583	missense	2889			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1141G>A	9.37:g.134503309C>T	ENSP00000361263:p.Glu381Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JUE4|Q8IV73	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E399K	ENST00000372189.3	37	c.1195	CCDS48047.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.401962	0.96030	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686	T;T;T	0.47177	0.85;0.85;0.85	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.63920	0.2552	M	0.64997	1.995	0.80722	D	1	D;D;D	0.69078	0.996;0.996;0.997	P;P;D	0.65874	0.87;0.87;0.939	T	0.59337	-0.7473	10	0.24483	T	0.36	.	17.5942	0.88006	0.0:1.0:0.0:0.0	.	398;381;399	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	K	381;398;275;381;399;361;307;76;398	ENSP00000361269:E398K;ENSP00000361263:E381K;ENSP00000361264:E399K	ENSP00000266110:E381K	E	-	1	0	RAPGEF1	133493130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.239000	0.78182	2.389000	0.81357	0.591000	0.81541	GAA	RAPGEF1	-	NULL		0.597	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2	C	NM_005312		134503309	-1	no_errors	ENST00000372190	ensembl	human	known	70_37	missense	SNP	1.000	T
RAPGEF3	10411	genome.wustl.edu	37	12	48131380	48131380	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:48131380G>C	ENST00000449771.2	-	28	2830	c.2742C>G	c.(2740-2742)ctC>ctG	p.L914L	RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000171000.4_Silent_p.L872L|RAPGEF3_ENST00000548919.1_Silent_p.L805L|RAPGEF3_ENST00000549151.1_Silent_p.L872L|RAPGEF3_ENST00000389212.3_Silent_p.L914L|RAPGEF3_ENST00000405493.2_Silent_p.L872L			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	914					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGAGGCGGGAGAGTTCCCGCT	0.647																																																	0													33.0	32.0	32.0					12																	48131380		2203	4300	6503	SO:0001819	synonymous_variant	10411			AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.2742C>G	12.37:g.48131380G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2G5|E7EQC8|O95634|Q8WVN0	Silent	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.L914	ENST00000449771.2	37	c.2742	CCDS41775.1	12																																																																																			RAPGEF3	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25		0.647	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF3	HGNC	protein_coding	OTTHUMT00000257848.1	G	NM_006105		48131380	-1	no_errors	ENST00000389212	ensembl	human	known	70_37	silent	SNP	0.135	C
RAPGEF4	11069	genome.wustl.edu	37	2	173832152	173832152	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:173832152G>C	ENST00000397081.3	+	10	1127	c.984G>C	c.(982-984)atG>atC	p.M328I	RAPGEF4_ENST00000538974.1_Missense_Mutation_p.M157I|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.M175I|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.M327I|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.M328I|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.M108I|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.M175I|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.M184I	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	328					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ACGCCCACATGAGGATGATCC	0.582																																																	0													55.0	59.0	58.0					2																	173832152		2069	4208	6277	SO:0001583	missense	11069			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.984G>C	2.37:g.173832152G>C	ENSP00000380271:p.Met328Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.M328I	ENST00000397081.3	37	c.984	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293595	0.80914	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	T;T;T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62;2.62;2.62	5.31	5.31	0.75309	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.077746	0.85682	D	0.000000	T	0.16214	0.0390	L	0.51422	1.61	0.80722	D	1	B;B;B;B;B	0.31910	0.011;0.346;0.007;0.006;0.278	B;B;B;B;B	0.24974	0.009;0.046;0.01;0.004;0.057	T	0.02087	-1.1216	10	0.56958	D	0.05	.	18.9765	0.92738	0.0:0.0:1.0:0.0	.	155;157;184;328;328	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	I	327;328;328;184;157;175;175;155;108	ENSP00000264111:M327I;ENSP00000380271:M328I;ENSP00000387104:M328I;ENSP00000380276:M184I;ENSP00000440135:M157I;ENSP00000440250:M175I;ENSP00000437384:M175I;ENSP00000438011:M108I	ENSP00000264111:M327I	M	+	3	0	RAPGEF4	173540398	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.822000	0.99363	2.478000	0.83669	0.561000	0.74099	ATG	RAPGEF4	-	NULL		0.582	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	G	NM_007023		173832152	+1	no_errors	ENST00000397081	ensembl	human	known	70_37	missense	SNP	1.000	C
RARG	5916	genome.wustl.edu	37	12	53607434	53607434	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:53607434G>C	ENST00000425354.2	-	8	1351	c.864C>G	c.(862-864)ttC>ttG	p.F288L	RARG_ENST00000394426.1_Missense_Mutation_p.F288L|RARG_ENST00000338561.5_Missense_Mutation_p.F277L|RARG_ENST00000543726.1_Missense_Mutation_p.F266L|RARG_ENST00000327550.3_Missense_Mutation_p.F216L|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	288	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	GCCCGTCGGAGAAGGTCATGG	0.622											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													106.0	94.0	98.0					12																	53607434		2203	4300	6503	SO:0001583	missense	5916			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.864C>G	12.37:g.53607434G>C	ENSP00000388510:p.Phe288Leu	Somatic	993	WXS	Illumina HiSeq	Phase_IV	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.F288L	ENST00000425354.2	37	c.864	CCDS8850.1	12	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700838	0.48307	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000538479;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14	4.96	4.96	0.65561	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.96629	0.8900	L	0.52126	1.63	0.58432	D	0.999999	P;D;D;D	0.89917	0.93;0.998;0.999;1.0	P;D;D;D	0.85130	0.713;0.992;0.997;0.995	D	0.93995	0.7270	10	0.02654	T	1	.	17.3465	0.87311	0.0:0.0:1.0:0.0	.	325;266;288;277	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	L	288;288;50;216;277;266;325	ENSP00000388510:F288L;ENSP00000377947:F288L;ENSP00000332695:F216L;ENSP00000343698:F277L;ENSP00000444335:F266L	ENSP00000332695:F216L	F	-	3	2	RARG	51893701	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	2.914000	0.48797	2.466000	0.83321	0.313000	0.20887	TTC	RARG	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4		0.622	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARG	HGNC	protein_coding	OTTHUMT00000109404.2	G	NM_000966		53607434	-1	no_errors	ENST00000394426	ensembl	human	known	70_37	missense	SNP	1.000	C
RARG	5916	genome.wustl.edu	37	12	53608258	53608258	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:53608258G>A	ENST00000425354.2	-	6	1095	c.608C>T	c.(607-609)tCg>tTg	p.S203L	RARG_ENST00000394426.1_Missense_Mutation_p.S203L|RARG_ENST00000338561.5_Missense_Mutation_p.S192L|RARG_ENST00000543726.1_Missense_Mutation_p.S181L|RARG_ENST00000327550.3_Missense_Mutation_p.S131L|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	203	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	CTGGCAGAGCGAGGGGAAAGT	0.567																																																	0													158.0	143.0	148.0					12																	53608258		2203	4300	6503	SO:0001583	missense	5916			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.608C>T	12.37:g.53608258G>A	ENSP00000388510:p.Ser203Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.S203L	ENST00000425354.2	37	c.608	CCDS8850.1	12	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557714	0.65425	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	4.84	4.84	0.62591	Nuclear hormone receptor, ligand-binding (2);	0.065190	0.64402	D	0.000005	T	0.64080	0.2566	M	0.71206	2.165	0.80722	D	1	D;P;D;B	0.89917	0.965;0.756;1.0;0.379	P;B;D;B	0.79784	0.451;0.185;0.993;0.048	T	0.64914	-0.6295	10	0.51188	T	0.08	.	17.2556	0.87055	0.0:0.0:1.0:0.0	.	240;181;203;192	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	L	203;203;131;192;181;240	ENSP00000388510:S203L;ENSP00000377947:S203L;ENSP00000332695:S131L;ENSP00000343698:S192L;ENSP00000444335:S181L	ENSP00000332695:S131L	S	-	2	0	RARG	51894525	1.000000	0.71417	0.975000	0.42487	0.989000	0.77384	9.506000	0.97992	2.688000	0.91661	0.563000	0.77884	TCG	RARG	-	superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt		0.567	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARG	HGNC	protein_coding	OTTHUMT00000109404.2	G	NM_000966		53608258	-1	no_errors	ENST00000394426	ensembl	human	known	70_37	missense	SNP	0.999	A
RASA2	5922	genome.wustl.edu	37	3	141292835	141292835	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:141292835C>G	ENST00000452898.1	+	14	1444	c.1409C>G	c.(1408-1410)tCa>tGa	p.S470*	RASA2_ENST00000286364.3_Nonsense_Mutation_p.S470*	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	470	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ATTGTAAAATCAAGTATGAGC	0.348																																																	0													90.0	88.0	88.0					3																	141292835		2203	4297	6500	SO:0001587	stop_gained	5922			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1409C>G	3.37:g.141292835C>G	ENSP00000391677:p.Ser470*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Nonsense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.S470*	ENST00000452898.1	37	c.1409		3	.	.	.	.	.	.	.	.	.	.	C	38	6.792200	0.97841	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7554	0.96287	0.0:1.0:0.0:0.0	.	.	.	.	X	470;470;62	.	ENSP00000286364:S470X	S	+	2	0	RASA2	142775525	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	7.487000	0.81328	2.665000	0.90641	0.563000	0.77884	TCA	RASA2	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.348	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding		C	NM_006506		141292835	+1	no_errors	ENST00000452898	ensembl	human	known	70_37	nonsense	SNP	1.000	G
RASA4CP	401331	genome.wustl.edu	37	7	44070415	44070415	+	RNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:44070415G>A	ENST00000446874.1	-	0	587									RAS p21 protein activator 4C, pseudogene																		GGTGCCGGTAGATGAGCTGGG	0.647																																																	0																																												401331					7p13	2012-07-04			ENSG00000228903	ENSG00000228903			44185	pseudogene	pseudogene							Standard	NR_024116		Approved		uc011kbk.1		OTTHUMG00000155354		7.37:g.44070415G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000446874.1	37	NULL		7																																																																																			RASA4CP	-	-		0.647	RASA4CP-003	KNOWN	basic	processed_transcript	RASA4CP	HGNC	pseudogene	OTTHUMT00000339613.1	G	NR_024116		44070415	-1	no_errors	ENST00000425524	ensembl	human	known	70_37	rna	SNP	1.000	A
RASGRP4	115727	genome.wustl.edu	37	19	38910797	38910797	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:38910797C>G	ENST00000587738.1	-	5	553	c.483G>C	c.(481-483)caG>caC	p.Q161H	RASGRP4_ENST00000454404.2_Missense_Mutation_p.Q161H|RASGRP4_ENST00000587753.1_Missense_Mutation_p.Q161H|RASGRP4_ENST00000586305.1_Missense_Mutation_p.Q161H|RASGRP4_ENST00000293062.9_Missense_Mutation_p.Q161H|RASGRP4_ENST00000433821.2_Missense_Mutation_p.Q161H|RASGRP4_ENST00000426920.2_Missense_Mutation_p.Q161H			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	161	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAGTCTTCTCTGGGCTGAGT	0.602																																																	0													32.0	40.0	37.0					19																	38910797		2030	4173	6203	SO:0001583	missense	115727			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.483G>C	19.37:g.38910797C>G	ENSP00000465772:p.Gln161His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.Q161H	ENST00000587738.1	37	c.483	CCDS46068.1	19	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.706444	0.00719	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.43	-1.09	0.09904	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.207146	0.41712	D	0.000833	T	0.25158	0.0611	N	0.25094	0.71	0.34310	D	0.685385	B;B;B;D;B;B;D	0.67145	0.218;0.053;0.02;0.996;0.012;0.012;0.996	B;B;B;P;B;B;P	0.59703	0.078;0.01;0.056;0.862;0.035;0.029;0.862	T	0.39333	-0.9619	10	0.17832	T	0.49	-18.3799	4.8109	0.13342	0.0:0.3914:0.1557:0.4529	.	161;161;161;161;161;161;161	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	H	161	ENSP00000411878:Q161H;ENSP00000293062:Q161H;ENSP00000445966:Q161H;ENSP00000416463:Q161H	ENSP00000293062:Q161H	Q	-	3	2	RASGRP4	43602637	0.011000	0.17503	0.037000	0.18230	0.234000	0.25298	-0.029000	0.12329	-0.270000	0.09285	-0.254000	0.11334	CAG	RASGRP4	-	superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N		0.602	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	RASGRP4	HGNC	protein_coding	OTTHUMT00000460540.1	C	NM_170604		38910797	-1	no_errors	ENST00000587738	ensembl	human	known	70_37	missense	SNP	0.979	G
RBBP4	5928	genome.wustl.edu	37	1	33145259	33145259	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:33145259G>C	ENST00000373493.5	+	12	1390	c.1231G>C	c.(1231-1233)Gat>Cat	p.D411H	RBBP4_ENST00000544435.1_Missense_Mutation_p.D159H|RBBP4_ENST00000414241.3_Missense_Mutation_p.D410H|RBBP4_ENST00000458695.2_Missense_Mutation_p.D376H|RBBP4_ENST00000373485.1_Intron	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	411					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CATTTATAATGATGAAGACCC	0.393																																																	0													118.0	116.0	117.0					1																	33145259		2203	4300	6503	SO:0001583	missense	5928			BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.1231G>C	1.37:g.33145259G>C	ENSP00000362592:p.Asp411His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Histone-bd_RBBP4,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D411H	ENST00000373493.5	37	c.1231	CCDS366.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.3|20.3|20.3	3.959848|3.959848|3.959848	0.74016|0.74016|0.74016	.|.|.	.|.|.	ENSG00000162521|ENSG00000162521|ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000544435;ENST00000458695|ENST00000482190|ENST00000463378	T;T;T;T|T|.	0.72394|0.70516|.	-0.39;-0.42;-0.65;-0.41|-0.49|.	5.3|5.3|5.3	5.3|5.3|5.3	0.74995|0.74995|0.74995	WD40-repeat-containing domain (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.78691|0.78691|.	0.4323|0.4323|.	M|M|M	0.80746|0.80746|0.80746	2.51|2.51|2.51	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.65815|.|.	0.995;0.98|.|.	D;P|.|.	0.63283|.|.	0.913;0.655|.|.	T|T|.	0.79147|0.79147|.	-0.1923|-0.1923|.	10|7|.	0.72032|0.54805|.	D|T|.	0.01|0.06|.	.|.|.	18.3208|18.3208|18.3208	0.90238|0.90238|0.90238	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	410;411|.|.	Q09028-2;Q09028|.|.	.;RBBP4_HUMAN|.|.	H|I|S	410;411;159;376|150|211	ENSP00000398242:D410H;ENSP00000362592:D411H;ENSP00000442384:D159H;ENSP00000396057:D376H|ENSP00000436565:M150I|.	ENSP00000362592:D411H|ENSP00000436565:M150I|.	D|M|X	+|+|+	1|3|2	0|0|2	RBBP4|RBBP4|RBBP4	32917846|32917846|32917846	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	9.205000|9.205000|9.205000	0.95048|0.95048|0.95048	2.646000|2.646000|2.646000	0.89796|0.89796|0.89796	0.557000|0.557000|0.557000	0.71058|0.71058|0.71058	GAT|ATG|TGA	RBBP4	-	pfscan_WD40_repeat_dom		0.393	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBBP4	HGNC	protein_coding	OTTHUMT00000021957.3	G	NM_005610		33145259	+1	no_errors	ENST00000373493	ensembl	human	known	70_37	missense	SNP	1.000	C
RBBP8	5932	genome.wustl.edu	37	18	20573147	20573147	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:20573147G>C	ENST00000399722.2	+	11	1708	c.1357G>C	c.(1357-1359)Gaa>Caa	p.E453Q	RBBP8_ENST00000399725.2_Missense_Mutation_p.E453Q|RBBP8_ENST00000360790.5_Missense_Mutation_p.E453Q|RBBP8_ENST00000327155.5_Missense_Mutation_p.E453Q	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	453					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AACTGAGGAAGAAAGTGAACA	0.403								Homologous recombination																																									0													51.0	53.0	53.0					18																	20573147		2199	4300	6499	SO:0001583	missense	5932			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1357G>C	18.37:g.20573147G>C	ENSP00000382628:p.Glu453Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.E453Q	ENST00000399722.2	37	c.1357	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687908	0.48097	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.37058	1.26;1.22;1.26;1.25;1.26	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000007	T	0.58566	0.2131	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.986;0.999;0.975	P;D;P	0.63488	0.642;0.915;0.642	T	0.61118	-0.7127	10	0.72032	D	0.01	-15.9481	13.3217	0.60436	0.0753:0.0:0.9247:0.0	.	453;453;453	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	Q	453	ENSP00000323050:E453Q;ENSP00000382630:E453Q;ENSP00000382628:E453Q;ENSP00000382627:E453Q;ENSP00000354024:E453Q	ENSP00000323050:E453Q	E	+	1	0	RBBP8	18827145	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.554000	0.53720	2.873000	0.98535	0.561000	0.74099	GAA	RBBP8	-	NULL		0.403	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1	G	NM_203291		20573147	+1	no_errors	ENST00000327155	ensembl	human	known	70_37	missense	SNP	1.000	C
RBM12B	389677	genome.wustl.edu	37	8	94747681	94747681	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:94747681C>G	ENST00000399300.2	-	3	1171	c.958G>C	c.(958-960)Gat>Cat	p.D320H	RBM12B_ENST00000517700.1_Missense_Mutation_p.D320H|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	320	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTATTTTCATCTTTATATAAA	0.323																																																	0													64.0	64.0	64.0					8																	94747681		1813	4075	5888	SO:0001583	missense	389677				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.958G>C	8.37:g.94747681C>G	ENSP00000382239:p.Asp320His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYB5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D320H	ENST00000399300.2	37	c.958	CCDS43755.1	8	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800493	0.31869	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.09073	3.02;3.02	5.26	4.28	0.50868	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.083878	0.51477	D	0.000093	T	0.06645	0.0170	L	0.48877	1.53	0.37617	D	0.921153	B	0.26935	0.164	B	0.27608	0.081	T	0.30268	-0.9984	10	0.17832	T	0.49	-20.2877	2.7627	0.05311	0.135:0.5441:0.148:0.1728	.	320	Q8IXT5	RB12B_HUMAN	H	320	ENSP00000382239:D320H;ENSP00000427729:D320H	ENSP00000382239:D320H	D	-	1	0	RBM12B	94816857	0.689000	0.27690	0.978000	0.43139	0.941000	0.58515	0.989000	0.29629	1.186000	0.42985	0.591000	0.81541	GAT	RBM12B	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.323	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1	C	NM_203390		94747681	-1	no_errors	ENST00000399300	ensembl	human	known	70_37	missense	SNP	0.771	G
RBM12B	389677	genome.wustl.edu	37	8	94747717	94747717	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:94747717C>G	ENST00000399300.2	-	3	1135	c.922G>C	c.(922-924)Gat>Cat	p.D308H	RBM12B_ENST00000517700.1_Missense_Mutation_p.D308H|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	308	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCAGTCAGATCAGTACCTCTA	0.338																																																	0													60.0	59.0	59.0					8																	94747717		1808	4073	5881	SO:0001583	missense	389677				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.922G>C	8.37:g.94747717C>G	ENSP00000382239:p.Asp308His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYB5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D308H	ENST00000399300.2	37	c.922	CCDS43755.1	8	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532963	0.45073	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.30714	1.52;1.52	5.26	5.26	0.73747	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000002	T	0.57548	0.2061	M	0.70275	2.135	0.49389	D	0.999788	D	0.89917	1.0	D	0.97110	1.0	T	0.59375	-0.7466	10	0.62326	D	0.03	-28.1308	19.2131	0.93765	0.0:1.0:0.0:0.0	.	308	Q8IXT5	RB12B_HUMAN	H	308	ENSP00000382239:D308H;ENSP00000427729:D308H	ENSP00000382239:D308H	D	-	1	0	RBM12B	94816893	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	2.673000	0.46858	2.614000	0.88457	0.591000	0.81541	GAT	RBM12B	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.338	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1	C	NM_203390		94747717	-1	no_errors	ENST00000399300	ensembl	human	known	70_37	missense	SNP	1.000	G
RBM20	282996	genome.wustl.edu	37	10	112541564	112541564	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:112541564G>A	ENST00000369519.3	+	2	1255	c.1197G>A	c.(1195-1197)ctG>ctA	p.L399L		NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	399					heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						CTCATGAGCTGAACGACTTTC	0.557																																																	0													86.0	80.0	82.0					10																	112541564		692	1591	2283	SO:0001819	synonymous_variant	282996			BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.1197G>A	10.37:g.112541564G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIP5|B5A868|Q5JVI1	Silent	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.L399	ENST00000369519.3	37	c.1197	CCDS44477.1	10																																																																																			RBM20	-	NULL		0.557	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM20	HGNC	protein_coding	OTTHUMT00000050339.2	G	NM_001134363		112541564	+1	no_errors	ENST00000369519	ensembl	human	known	70_37	silent	SNP	0.949	A
RBM20	282996	genome.wustl.edu	37	10	112541612	112541612	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:112541612C>T	ENST00000369519.3	+	2	1303	c.1245C>T	c.(1243-1245)agC>agT	p.S415S		NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	415					heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						ATATCTGTAGCATCTGTGACA	0.572																																																	0													94.0	82.0	86.0					10																	112541612		692	1591	2283	SO:0001819	synonymous_variant	282996			BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.1245C>T	10.37:g.112541612C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIP5|B5A868|Q5JVI1	Silent	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.S415	ENST00000369519.3	37	c.1245	CCDS44477.1	10																																																																																			RBM20	-	smart_Znf_U1		0.572	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM20	HGNC	protein_coding	OTTHUMT00000050339.2	C	NM_001134363		112541612	+1	no_errors	ENST00000369519	ensembl	human	known	70_37	silent	SNP	1.000	T
RBM20	282996	genome.wustl.edu	37	10	112572653	112572653	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:112572653G>C	ENST00000369519.3	+	9	2556	c.2498G>C	c.(2497-2499)aGa>aCa	p.R833T		NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	833					heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						AGAACTGATAGAGACCAAGAA	0.498																																																	0													67.0	74.0	72.0					10																	112572653		692	1591	2283	SO:0001583	missense	282996			BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.2498G>C	10.37:g.112572653G>C	ENSP00000358532:p.Arg833Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIP5|B5A868|Q5JVI1	Missense_Mutation	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.R833T	ENST00000369519.3	37	c.2498	CCDS44477.1	10	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252123	0.39797	.	.	ENSG00000203867	ENST00000369519;ENST00000539821	T	0.75589	-0.95	5.83	3.99	0.46301	.	0.133817	0.47093	D	0.000251	T	0.63873	0.2548	L	0.52573	1.65	0.35974	D	0.835513	P	0.35433	0.501	B	0.27608	0.081	T	0.69468	-0.5137	10	0.72032	D	0.01	-15.8179	9.0359	0.36287	0.2751:0.0:0.7249:0.0	.	833	Q5T481	RBM20_HUMAN	T	833	ENSP00000358532:R833T	ENSP00000358532:R833T	R	+	2	0	RBM20	112562643	1.000000	0.71417	0.839000	0.33178	0.957000	0.61999	3.751000	0.55165	0.820000	0.34516	0.563000	0.77884	AGA	RBM20	-	NULL		0.498	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM20	HGNC	protein_coding	OTTHUMT00000050339.2	G	NM_001134363		112572653	+1	no_errors	ENST00000369519	ensembl	human	known	70_37	missense	SNP	0.932	C
RBM20	282996	genome.wustl.edu	37	10	112581168	112581168	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:112581168G>C	ENST00000369519.3	+	11	2849	c.2791G>C	c.(2791-2793)Gaa>Caa	p.E931Q		NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	931	Glu-rich.				heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						AGAGCTGGAAGAAATTGTGCC	0.493																																																	0													154.0	142.0	145.0					10																	112581168		692	1591	2283	SO:0001583	missense	282996			BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.2791G>C	10.37:g.112581168G>C	ENSP00000358532:p.Glu931Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIP5|B5A868|Q5JVI1	Missense_Mutation	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.E931Q	ENST00000369519.3	37	c.2791	CCDS44477.1	10	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426815	0.83667	.	.	ENSG00000203867	ENST00000369519;ENST00000539821	T	0.76060	-0.99	5.85	5.85	0.93711	.	0.417482	0.21269	N	0.077348	D	0.82476	0.5045	L	0.52573	1.65	0.46241	D	0.998944	D	0.63880	0.993	P	0.59546	0.859	T	0.82639	-0.0358	10	0.66056	D	0.02	-21.6631	20.1577	0.98120	0.0:0.0:1.0:0.0	.	931	Q5T481	RBM20_HUMAN	Q	931	ENSP00000358532:E931Q	ENSP00000358532:E931Q	E	+	1	0	RBM20	112571158	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.365000	0.79537	2.767000	0.95098	0.655000	0.94253	GAA	RBM20	-	NULL		0.493	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM20	HGNC	protein_coding	OTTHUMT00000050339.2	G	NM_001134363		112581168	+1	no_errors	ENST00000369519	ensembl	human	known	70_37	missense	SNP	1.000	C
RBM20	282996	genome.wustl.edu	37	10	112581300	112581300	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:112581300G>A	ENST00000369519.3	+	11	2981	c.2923G>A	c.(2923-2925)Gaa>Aaa	p.E975K		NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	975					heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						TGGGGCTGCAGAAATCAGCCT	0.542																																																	0													119.0	115.0	116.0					10																	112581300		692	1591	2283	SO:0001583	missense	282996			BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.2923G>A	10.37:g.112581300G>A	ENSP00000358532:p.Glu975Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIP5|B5A868|Q5JVI1	Missense_Mutation	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.E975K	ENST00000369519.3	37	c.2923	CCDS44477.1	10	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716129	0.89205	.	.	ENSG00000203867	ENST00000369519;ENST00000539821	D	0.90504	-2.68	6.07	6.07	0.98685	.	0.153028	0.41097	D	0.000941	D	0.93132	0.7813	L	0.48642	1.525	0.45914	D	0.998759	D	0.67145	0.996	P	0.61070	0.883	D	0.91263	0.5038	10	0.36615	T	0.2	-14.8514	20.6439	0.99570	0.0:0.0:1.0:0.0	.	975	Q5T481	RBM20_HUMAN	K	975	ENSP00000358532:E975K	ENSP00000358532:E975K	E	+	1	0	RBM20	112571290	1.000000	0.71417	0.337000	0.25536	0.696000	0.40369	4.560000	0.60802	2.884000	0.98904	0.655000	0.94253	GAA	RBM20	-	NULL		0.542	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM20	HGNC	protein_coding	OTTHUMT00000050339.2	G	NM_001134363		112581300	+1	no_errors	ENST00000369519	ensembl	human	known	70_37	missense	SNP	0.993	A
RBM42	79171	genome.wustl.edu	37	19	36125187	36125187	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:36125187G>A	ENST00000262633.4	+	8	1152	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	RBM42_ENST00000589559.1_Silent_p.K320K|RBM42_ENST00000360475.4_Silent_p.K320K|RBM42_ENST00000588161.1_Silent_p.K319K|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Silent_p.K327K|RBM42_ENST00000592202.1_Silent_p.K295K	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	349	Necessary for interaction with HNRNPK. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AAGACAAGAAGAAGGGGAAGC	0.607																																																	0													62.0	55.0	57.0					19																	36125187		2203	4300	6503	SO:0001819	synonymous_variant	79171			BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.1047G>A	19.37:g.36125187G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O00320|Q8N5R7|Q9BU66	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K349	ENST00000262633.4	37	c.1047	CCDS12468.1	19																																																																																			RBM42	-	NULL		0.607	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM42	HGNC	protein_coding	OTTHUMT00000459057.2	G	NM_024321		36125187	+1	no_errors	ENST00000262633	ensembl	human	known	70_37	silent	SNP	1.000	A
RBM6	10180	genome.wustl.edu	37	3	50005788	50005788	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:50005788G>A	ENST00000266022.4	+	3	1189	c.930G>A	c.(928-930)gtG>gtA	p.V310V	RBM6_ENST00000443081.1_Silent_p.V178V|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000539992.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	310					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GTATGAATGTGAACAGGAGAG	0.408																																																	0													69.0	66.0	67.0					3																	50005788		2203	4300	6503	SO:0001819	synonymous_variant	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.930G>A	3.37:g.50005788G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O60549|O75524|Q86SS3	Silent	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.V310	ENST00000266022.4	37	c.930	CCDS2809.1	3																																																																																			RBM6	-	NULL		0.408	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	G	NM_005777		50005788	+1	no_errors	ENST00000266022	ensembl	human	known	70_37	silent	SNP	1.000	A
RBM6	10180	genome.wustl.edu	37	3	50005798	50005798	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:50005798G>A	ENST00000266022.4	+	3	1199	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	RBM6_ENST00000443081.1_Missense_Mutation_p.E182K|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000539992.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	314					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GAACAGGAGAGAAGAATCCAC	0.418																																																	0													71.0	67.0	69.0					3																	50005798		2203	4300	6503	SO:0001583	missense	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.940G>A	3.37:g.50005798G>A	ENSP00000266022:p.Glu314Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.E314K	ENST00000266022.4	37	c.940	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876778	0.72180	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.36157	1.27;1.3	6.04	6.04	0.98038	.	0.368895	0.25909	N	0.027505	T	0.39989	0.1099	L	0.27053	0.805	0.80722	D	1	D	0.58268	0.982	P	0.51266	0.664	T	0.02925	-1.1093	9	.	.	.	-21.3344	20.5792	0.99380	0.0:0.0:1.0:0.0	.	314	P78332	RBM6_HUMAN	K	314;182	ENSP00000266022:E314K;ENSP00000396466:E182K	.	E	+	1	0	RBM6	49980802	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.664000	0.74437	2.873000	0.98535	0.561000	0.74099	GAA	RBM6	-	NULL		0.418	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	G	NM_005777		50005798	+1	no_errors	ENST00000266022	ensembl	human	known	70_37	missense	SNP	1.000	A
RBMS1	5937	genome.wustl.edu	37	2	161157214	161157214	+	Silent	SNP	A	A	G	rs535279847	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:161157214A>G	ENST00000348849.3	-	6	1018	c.588T>C	c.(586-588)gcT>gcC	p.A196A	RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Silent_p.A163A|RBMS1_ENST00000392753.3_Silent_p.A196A|RBMS1_ENST00000409075.1_Silent_p.A163A|RBMS1_ENST00000409289.2_Silent_p.A163A	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	196	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								GACCAATAACAGCTTCACATT	0.294																																																	0													60.0	62.0	62.0					2																	161157214		2203	4297	6500	SO:0001819	synonymous_variant	5937			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.588T>C	2.37:g.161157214A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.A196	ENST00000348849.3	37	c.588	CCDS2213.1	2																																																																																			RBMS1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.294	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS1	HGNC	protein_coding	OTTHUMT00000255043.4	A	NM_016836		161157214	-1	no_errors	ENST00000392753	ensembl	human	known	70_37	silent	SNP	0.889	G
RBMXL1	494115	genome.wustl.edu	37	1	89448842	89448842	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:89448842C>G	ENST00000321792.5	-	2	1095	c.668G>C	c.(667-669)aGa>aCa	p.R223T	CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.R223T	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	223					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TGGGTAATCTCTGCTTGAATA	0.448																																																	0													183.0	167.0	173.0					1																	89448842		2203	4300	6503	SO:0001583	missense	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.668G>C	1.37:g.89448842C>G	ENSP00000318415:p.Arg223Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R223T	ENST00000321792.5	37	c.668	CCDS716.1	1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822986	0.50739	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.77229	-1.08;-1.08	1.53	0.546	0.17196	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	M	0.76574	2.34	0.34262	D	0.68005	P	0.44986	0.847	B	0.40477	0.33	T	0.58555	-0.7616	10	0.87932	D	0	.	5.907	0.19006	0.0:0.8086:0.0:0.1914	.	223	Q96E39	RBMXL_HUMAN	T	223	ENSP00000318415:R223T;ENSP00000446099:R223T	ENSP00000318415:R223T	R	-	2	0	RBMXL1	89221430	1.000000	0.71417	0.964000	0.40570	0.277000	0.26821	4.924000	0.63418	0.012000	0.14892	-0.667000	0.03836	AGA	RBMXL1	-	NULL		0.448	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL1	HGNC	protein_coding	OTTHUMT00000029403.3	C	NM_019610		89448842	-1	no_errors	ENST00000321792	ensembl	human	known	70_37	missense	SNP	1.000	G
RC3H1	149041	genome.wustl.edu	37	1	173961967	173961967	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:173961967C>G	ENST00000367696.2	-	2	508	c.157G>C	c.(157-159)Gac>Cac	p.D53H	RC3H1_ENST00000258349.4_Missense_Mutation_p.D53H|RC3H1_ENST00000367694.2_Missense_Mutation_p.D53H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	53					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GTGGTCTGGTCAAATGGGCAA	0.483																																																	0													144.0	123.0	130.0					1																	173961967		2203	4300	6503	SO:0001583	missense	149041			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.157G>C	1.37:g.173961967C>G	ENSP00000356669:p.Asp53His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.D53H	ENST00000367696.2	37	c.157	CCDS30940.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183577	0.78677	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.85629	-2.01;-2.01;-2.01	5.68	4.77	0.60923	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.94162	0.8127	M	0.92317	3.295	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;1.0	D	0.95577	0.8643	10	0.87932	D	0	-15.5093	16.7786	0.85558	0.0:0.8711:0.1289:0.0	.	53;53;53;53	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	H	53	ENSP00000356669:D53H;ENSP00000258349:D53H;ENSP00000356667:D53H	ENSP00000258349:D53H	D	-	1	0	RC3H1	172228590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.391000	0.79828	1.403000	0.46800	0.655000	0.94253	GAC	RC3H1	-	smart_Znf_RING,pfscan_Znf_RING		0.483	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H1	HGNC	protein_coding	OTTHUMT00000090733.2	C	NM_172071		173961967	-1	no_errors	ENST00000258349	ensembl	human	known	70_37	missense	SNP	1.000	G
RDH16	8608	genome.wustl.edu	37	12	57351166	57351166	+	Silent	SNP	C	C	T	rs200407338	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:57351166C>T	ENST00000398138.3	-	1	937	c.81G>A	c.(79-81)ctG>ctA	p.L27L	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	27					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						ACTTATCTCTCAGGTGGCTCA	0.582													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19458	0.0		0.0	False		,,,				2504	0.0				GBM(179;741 2921 43105 45298)												0								C		1,4405	2.1+/-5.4	0,1,2202	76.0	83.0	81.0		81	-3.2	0.0	12		81	0,8600		0,0,4300	no	coding-synonymous	RDH16	NM_003708.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		27/318	57351166	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8608				CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.81G>A	12.37:g.57351166C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UNV2	Silent	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L27	ENST00000398138.3	37	c.81	CCDS41797.1	12																																																																																			RDH16	-	NULL		0.582	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH16	HGNC	protein_coding	OTTHUMT00000410898.1	C	NM_003708		57351166	-1	no_errors	ENST00000398138	ensembl	human	known	70_37	silent	SNP	0.007	T
RELB	5971	genome.wustl.edu	37	19	45532204	45532204	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:45532204C>T	ENST00000221452.8	+	8	1095	c.945C>T	c.(943-945)tgC>tgT	p.C315C	RELB_ENST00000540120.1_Silent_p.C315C|RELB_ENST00000505236.1_Silent_p.C312C	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	315	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCGGGCCGTGCACCGGTGGCG	0.552																																																	0													27.0	28.0	28.0					19																	45532204		1932	4134	6066	SO:0001819	synonymous_variant	5971			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.945C>T	19.37:g.45532204C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GTX7|Q9UEI7	Silent	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.C315	ENST00000221452.8	37	c.945	CCDS46110.1	19																																																																																			RELB	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.552	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELB	HGNC	protein_coding	OTTHUMT00000367361.2	C			45532204	+1	no_errors	ENST00000221452	ensembl	human	known	70_37	silent	SNP	0.913	T
RELL2	285613	genome.wustl.edu	37	5	141019656	141019656	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:141019656G>A	ENST00000297164.3	+	5	1873	c.673G>A	c.(673-675)Gag>Aag	p.E225K	RELL2_ENST00000444782.1_Missense_Mutation_p.E225K|RELL2_ENST00000518856.1_Missense_Mutation_p.E159K|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000521367.1_Missense_Mutation_p.E159K|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000435817.2_3'UTR	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	225					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCCCCCTGAGAGGCCACA	0.677																																																	0													26.0	28.0	28.0					5																	141019656		2203	4299	6502	SO:0001583	missense	285613			AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"""chromosome 5 open reading frame 16"""	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.673G>A	5.37:g.141019656G>A	ENSP00000297164:p.Glu225Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQE2|Q6P4E7|Q6UXY2	Missense_Mutation	SNP	pfam_TNF_rcpt_RELT	p.E225K	ENST00000297164.3	37	c.673	CCDS4265.1	5	.	.	.	.	.	.	.	.	.	.	G	13.31	2.197764	0.38806	.	.	ENSG00000164620	ENST00000444782;ENST00000521367;ENST00000297164;ENST00000518856	T;T;T;T	0.16897	2.37;2.31;2.37;2.32	5.38	4.43	0.53597	.	0.461226	0.20977	N	0.082293	T	0.14743	0.0356	L	0.36672	1.1	0.09310	N	0.999996	B;B	0.29301	0.241;0.079	B;B	0.29942	0.109;0.037	T	0.14062	-1.0486	10	0.23891	T	0.37	-12.0604	14.029	0.64604	0.0:0.0:0.8387:0.1613	.	159;225	E5RHA7;Q8NC24	.;RELL2_HUMAN	K	225;159;225;159	ENSP00000409443:E225K;ENSP00000430948:E159K;ENSP00000297164:E225K;ENSP00000427992:E159K	ENSP00000297164:E225K	E	+	1	0	RELL2	140999840	0.004000	0.15560	0.992000	0.48379	0.784000	0.44337	1.383000	0.34385	2.529000	0.85273	0.655000	0.94253	GAG	RELL2	-	NULL		0.677	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RELL2	HGNC	protein_coding	OTTHUMT00000251807.2	G	NM_173828		141019656	+1	no_errors	ENST00000297164	ensembl	human	known	70_37	missense	SNP	0.023	A
RERE	473	genome.wustl.edu	37	1	8568728	8568728	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:8568728C>T	ENST00000337907.3	-	9	1471	c.837G>A	c.(835-837)ctG>ctA	p.L279L	RERE_ENST00000377464.1_Silent_p.L11L|RERE_ENST00000400907.2_Silent_p.L279L|RERE_ENST00000400908.2_Silent_p.L279L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	279	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGTACTGTTCAGCCTCCTGG	0.373																																																	0													105.0	96.0	99.0					1																	8568728		2203	4300	6503	SO:0001819	synonymous_variant	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.837G>A	1.37:g.8568728C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.L279	ENST00000337907.3	37	c.837	CCDS95.1	1																																																																																			RERE	-	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom		0.373	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	C			8568728	-1	no_errors	ENST00000337907	ensembl	human	known	70_37	silent	SNP	1.000	T
RFK	55312	genome.wustl.edu	37	9	79002231	79002231	+	3'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:79002231C>G	ENST00000376736.1	-	0	885				RFK_ENST00000479197.1_5'Flank	NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN	riboflavin kinase						apoptotic process (GO:0006915)|FMN biosynthetic process (GO:0009398)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|reactive oxygen species metabolic process (GO:0072593)|riboflavin biosynthetic process (GO:0009231)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|riboflavin kinase activity (GO:0008531)			pancreas(1)|prostate(1)|urinary_tract(1)	3					Riboflavin(DB00140)	GTTTGATTTTCAGTATATAAC	0.294																																																	0																																										SO:0001624	3_prime_UTR_variant	55312			AK002011	CCDS35044.1, CCDS35044.2	9q21.31	2010-11-16			ENSG00000135002	ENSG00000135002			30324	protein-coding gene	gene with protein product		613010				14580199	Standard	NM_018339		Approved	FLJ11149, RIFK	uc004akd.2	Q969G6	OTTHUMG00000020040	ENST00000376736.1:c.*84G>C	9.37:g.79002231C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JSG9|Q9NUT7	RNA	SNP	-	NULL	ENST00000376736.1	37	NULL	CCDS35044.2	9																																																																																			RFK	-	-		0.294	RFK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFK	HGNC	protein_coding	OTTHUMT00000052720.1	C	NM_018339		79002231	-1	no_errors	ENST00000472900	ensembl	human	known	70_37	rna	SNP	0.001	G
RFPL2	10739	genome.wustl.edu	37	22	32589259	32589259	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:32589259C>G	ENST00000400237.1	-	4	1201				RFPL2_ENST00000400236.3_Intron|RFPL2_ENST00000248983.4_Intron|RFPL2_ENST00000248980.4_Start_Codon_SNP_p.M1I|RFPL2_ENST00000489846.1_5'UTR			O75678	RFPL2_HUMAN	ret finger protein-like 2								zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						ACAACCTTTTCATGCATAGAG	0.463																																																	0													47.0	54.0	51.0					22																	32589259		1314	2303	3617	SO:0001627	intron_variant	10739			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.266-80G>C	22.37:g.32589259C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.M1I	ENST00000400237.1	37	c.3	CCDS43009.2	22	.	.	.	.	.	.	.	.	.	.	C	5.174	0.217738	0.09810	.	.	ENSG00000128253	ENST00000248980	T	0.50277	0.75	0.628	0.628	0.17681	.	.	.	.	.	T	0.33381	0.0861	.	.	.	0.09310	N	1	B	0.33000	0.393	B	0.36030	0.216	T	0.23368	-1.0190	6	.	.	.	.	.	.	.	.	1	O75678-3	.	I	1	ENSP00000248980:M1I	.	M	-	3	0	RFPL2	30919259	0.003000	0.15002	0.002000	0.10522	0.003000	0.03518	0.752000	0.26362	0.602000	0.29896	0.455000	0.32223	ATG	RFPL2	-	NULL		0.463	RFPL2-001	KNOWN	basic|CCDS	protein_coding	RFPL2	HGNC	protein_coding	OTTHUMT00000075262.2	C	NM_006605		32589259	-1	no_errors	ENST00000248980	ensembl	human	known	70_37	missense	SNP	0.002	G
RFPL4A	342931	genome.wustl.edu	37	19	56273173	56273173	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:56273173G>C	ENST00000434937.2	+	2	178	c.7G>C	c.(7-9)Gag>Cag	p.E3Q		NM_001145014.1	NP_001138486.1	A6NLU0	RFPLA_HUMAN	ret finger protein-like 4A	3							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						TGCCATGGCTGAGCACTTCAA	0.408																																																	0													5.0	4.0	5.0					19																	56273173		611	1406	2017	SO:0001583	missense	342931				CCDS46201.1	19q13.42	2013-02-22	2007-01-19	2007-01-19	ENSG00000223638	ENSG00000223638		"""RING-type (C3HC4) zinc fingers"""	16449	protein-coding gene	gene with protein product		612601	"""ret finger protein-like 4"""	RFPL4		11850190	Standard	NM_001145014		Approved	RNF210	uc010yge.2	A6NLU0	OTTHUMG00000165449	ENST00000434937.2:c.7G>C	19.37:g.56273173G>C	ENSP00000392936:p.Glu3Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.E3Q	ENST00000434937.2	37	c.7	CCDS46201.1	19	.	.	.	.	.	.	.	.	.	.	G	5.388	0.256889	0.10185	.	.	ENSG00000223638	ENST00000434937	T	0.18810	2.19	2.91	0.321	0.15883	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.16896	0.0406	L	0.60957	1.885	0.09310	N	1	B	0.17465	0.022	B	0.18561	0.022	T	0.30736	-0.9968	9	0.23891	T	0.37	-12.9357	3.5232	0.07750	0.163:0.2684:0.5686:0.0	.	3	A6NLU0	RFPLA_HUMAN	Q	3	ENSP00000392936:E3Q	ENSP00000392936:E3Q	E	+	1	0	RFPL4A	60964985	0.000000	0.05858	0.005000	0.12908	0.122000	0.20287	0.044000	0.13992	0.503000	0.28060	0.467000	0.42956	GAG	RFPL4A	-	NULL		0.408	RFPL4A-001	NOVEL	upstream_ATG|basic|appris_principal|CCDS	protein_coding	RFPL4A	HGNC	protein_coding	OTTHUMT00000384184.1	G	XM_292796		56273173	+1	no_errors	ENST00000434937	ensembl	human	novel	70_37	missense	SNP	0.004	C
RFWD2	64326	genome.wustl.edu	37	1	175996801	175996801	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:175996801C>G	ENST00000367669.3	-	15	2150	c.1636G>C	c.(1636-1638)Gac>Cac	p.D546H	RFWD2_ENST00000308769.8_Missense_Mutation_p.D522H	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	546					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACTGAGTTGTCTAGATTGGTA	0.408																																					Ovarian(134;1413 1765 5706 35534 51541)												0													84.0	71.0	76.0					1																	175996801		2203	4300	6503	SO:0001583	missense	64326			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1636G>C	1.37:g.175996801C>G	ENSP00000356641:p.Asp546His	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D546H	ENST00000367669.3	37	c.1636	CCDS30944.1	1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708214	0.89018	.	.	ENSG00000143207	ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769	T;T;T	0.70749	-0.51;-0.51;-0.51	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80166	0.4573	L	0.39633	1.23	0.80722	D	1	P;D;D;D;D	0.89917	0.534;0.99;1.0;0.999;0.999	P;D;D;D;D	0.80764	0.569;0.969;0.98;0.994;0.99	T	0.80596	-0.1312	10	0.62326	D	0.03	-18.6517	19.4868	0.95032	0.0:1.0:0.0:0.0	.	321;306;522;546;546	Q8NHY2-3;B1AMD2;Q8NHY2-2;Q8NHY2;Q504W6	.;.;.;RFWD2_HUMAN;.	H	321;546;381;522	ENSP00000356641:D546H;ENSP00000356638:D381H;ENSP00000310943:D522H	ENSP00000310943:D522H	D	-	1	0	RFWD2	174263424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.660000	0.68018	2.693000	0.91896	0.650000	0.86243	GAC	RFWD2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.408	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD2	HGNC	protein_coding	OTTHUMT00000084672.2	C	NM_022457		175996801	-1	no_errors	ENST00000367669	ensembl	human	known	70_37	missense	SNP	1.000	G
RFX7	64864	genome.wustl.edu	37	15	56387701	56387701	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:56387701G>A	ENST00000559447.2	-	9	2205	c.1934C>T	c.(1933-1935)tCa>tTa	p.S645L	RFX7_ENST00000423270.1_Missense_Mutation_p.S742L|RFX7_ENST00000317318.6_Missense_Mutation_p.S742L|RFX7_ENST00000422057.1_Missense_Mutation_p.S645L			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	645					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTCCAAAGCTGAATCACTGAT	0.418																																																	0													100.0	90.0	93.0					15																	56387701		1914	4131	6045	SO:0001583	missense	64864					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1934C>T	15.37:g.56387701G>A	ENSP00000453281:p.Ser645Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.S742L	ENST00000559447.2	37	c.2225		15	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834692	0.32421	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.55234	0.53;0.53;0.53	5.47	3.61	0.41365	.	0.474495	0.17838	N	0.160313	T	0.34629	0.0904	N	0.14661	0.345	0.31556	N	0.658184	B;B	0.27559	0.0;0.181	B;B	0.21708	0.0;0.036	T	0.39231	-0.9624	10	0.66056	D	0.02	-0.3517	11.0694	0.47995	0.1492:0.0:0.8508:0.0	.	645;645	Q2KHR2;C9JU50	RFX7_HUMAN;.	L	645;742;742	ENSP00000387504:S645L;ENSP00000313299:S742L;ENSP00000397644:S742L	ENSP00000313299:S742L	S	-	2	0	RFX7	54174993	0.920000	0.31207	0.160000	0.22671	0.661000	0.39034	5.438000	0.66550	0.677000	0.31305	0.591000	0.81541	TCA	RFX7	-	NULL		0.418	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3	G	NM_022841		56387701	-1	no_errors	ENST00000423270	ensembl	human	known	70_37	missense	SNP	0.881	A
RGS12	6002	genome.wustl.edu	37	4	3344302	3344302	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:3344302C>T	ENST00000344733.5	+	3	2785				RGS12_ENST00000306648.7_Silent_p.L24L|RGS12_ENST00000543385.1_Intron|RGS12_ENST00000382788.3_Intron|RGS12_ENST00000336727.3_Intron	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12						positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCTTTACTCTCAGTGTACtgt	0.418																																																	0																																										SO:0001627	intron_variant	6002			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.1882-362C>T	4.37:g.3344302C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.L24	ENST00000344733.5	37	c.72	CCDS3366.1	4																																																																																			RGS12	-	NULL		0.418	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1	C	NM_002926		3344302	+1	no_errors	ENST00000306648	ensembl	human	known	70_37	silent	SNP	0.000	T
RGS18	64407	genome.wustl.edu	37	1	192127819	192127819	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:192127819G>C	ENST00000367460.3	+	1	233	c.52G>C	c.(52-54)Gaa>Caa	p.E18Q	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	18					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAATCAAAAGAAAAAACTTT	0.294																																																	0													39.0	43.0	41.0					1																	192127819		2201	4281	6482	SO:0001583	missense	64407			AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.52G>C	1.37:g.192127819G>C	ENSP00000356430:p.Glu18Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD23	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E18Q	ENST00000367460.3	37	c.52	CCDS1374.1	1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173839	0.57692	.	.	ENSG00000150681	ENST00000367460	T	0.54479	0.57	6.06	5.16	0.70880	.	0.253806	0.45126	D	0.000385	T	0.50514	0.1620	L	0.60455	1.87	0.36813	D	0.885974	P	0.36282	0.546	B	0.37943	0.261	T	0.59348	-0.7471	10	0.42905	T	0.14	.	12.3769	0.55285	0.0777:0.0:0.9223:0.0	.	18	Q9NS28	RGS18_HUMAN	Q	18	ENSP00000356430:E18Q	ENSP00000356430:E18Q	E	+	1	0	RGS18	190394442	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.605000	0.67634	1.582000	0.49881	0.650000	0.86243	GAA	RGS18	-	NULL		0.294	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS18	HGNC	protein_coding	OTTHUMT00000086382.1	G	NM_130782		192127819	+1	no_errors	ENST00000367460	ensembl	human	known	70_37	missense	SNP	1.000	C
RGS22	26166	genome.wustl.edu	37	8	100994308	100994308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:100994308G>A	ENST00000360863.6	-	22	3411	c.3217C>T	c.(3217-3219)Cag>Tag	p.Q1073*	RGS22_ENST00000523437.1_Nonsense_Mutation_p.Q1061*|RGS22_ENST00000523287.1_Nonsense_Mutation_p.Q892*	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1073	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATCTTCTTCTGGATGACAGAC	0.353																																																	0													106.0	100.0	102.0					8																	100994308		1852	4096	5948	SO:0001587	stop_gained	26166			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3217C>T	8.37:g.100994308G>A	ENSP00000354109:p.Gln1073*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Nonsense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.Q1073*	ENST00000360863.6	37	c.3217	CCDS43758.1	8	.	.	.	.	.	.	.	.	.	.	G	46	12.221510	0.99647	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	.	.	.	5.18	5.18	0.71444	.	0.218697	0.39909	N	0.001232	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	18.6775	0.91534	0.0:0.0:1.0:0.0	.	.	.	.	X	1073;1060;892;1061	.	ENSP00000354109:Q1073X	Q	-	1	0	RGS22	101063484	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	9.199000	0.95003	2.390000	0.81377	0.591000	0.81541	CAG	RGS22	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.353	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1	G	NM_015668		100994308	-1	no_errors	ENST00000360863	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RGS3	5998	genome.wustl.edu	37	9	116224348	116224348	+	Missense_Mutation	SNP	G	G	C	rs201071186		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:116224348G>C	ENST00000374140.2	+	4	491	c.282G>C	c.(280-282)ttG>ttC	p.L94F	RGS3_ENST00000317613.6_5'Flank|RGS3_ENST00000350696.5_Missense_Mutation_p.L94F	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	94					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTGTGGCTTGAGCCTGAGCT	0.552																																																	0													130.0	131.0	131.0					9																	116224348		2151	4254	6405	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.282G>C	9.37:g.116224348G>C	ENSP00000363255:p.Leu94Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.L94F	ENST00000374140.2	37	c.282	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027185	0.54683	.	.	ENSG00000138835	ENST00000374140;ENST00000350696	T;T	0.50001	0.76;0.76	3.81	0.9	0.19278	.	0.841724	0.09466	U	0.798261	T	0.29158	0.0725	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.27536	-1.0071	10	0.87932	D	0	.	3.4621	0.07536	0.248:0.2172:0.5348:0.0	.	94	P49796	RGS3_HUMAN	F	94	ENSP00000363255:L94F;ENSP00000259406:L94F	ENSP00000259406:L94F	L	+	3	2	RGS3	115264169	0.059000	0.20769	0.010000	0.14722	0.376000	0.30014	0.066000	0.14489	0.190000	0.20209	-0.226000	0.12346	TTG	RGS3	-	NULL		0.552	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	G	NM_017790		116224348	+1	no_errors	ENST00000350696	ensembl	human	known	70_37	missense	SNP	0.015	C
RGS3	5998	genome.wustl.edu	37	9	116356554	116356554	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:116356554G>C	ENST00000374140.2	+	23	3289				RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462403.1_Missense_Mutation_p.E119Q|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000462143.1_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGGCCCTACAGAGATGCTCCG	0.652																																																	0													38.0	46.0	44.0					9																	116356554		2202	4298	6500	SO:0001627	intron_variant	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-156G>C	9.37:g.116356554G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E119Q	ENST00000374140.2	37	c.355	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462162	0.63513	.	.	ENSG00000138835	ENST00000462403	T	0.58358	0.34	5.23	5.23	0.72850	.	.	.	.	.	T	0.43322	0.1242	N	0.22421	0.69	0.80722	D	1	P	0.45348	0.856	B	0.42319	0.383	T	0.49899	-0.8890	9	0.72032	D	0.01	.	15.584	0.76468	0.0:0.0:1.0:0.0	.	119	Q5VZ06	.	Q	119	ENSP00000436168:E119Q	ENSP00000436168:E119Q	E	+	1	0	RGS3	115396375	1.000000	0.71417	0.823000	0.32752	0.963000	0.63663	6.055000	0.71103	2.442000	0.82660	0.558000	0.71614	GAG	RGS3	-	NULL		0.652	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	G	NM_017790		116356554	+1	no_errors	ENST00000462403	ensembl	human	known	70_37	missense	SNP	0.970	C
RGS3	5998	genome.wustl.edu	37	9	116356797	116356797	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:116356797G>C	ENST00000374140.2	+	23	3377	c.3168G>C	c.(3166-3168)atG>atC	p.M1056I	RGS3_ENST00000343817.5_Missense_Mutation_p.M775I|RGS3_ENST00000462403.1_Missense_Mutation_p.M169I|RGS3_ENST00000374134.3_Missense_Mutation_p.M377I|RGS3_ENST00000394646.3_Missense_Mutation_p.M449I|RGS3_ENST00000342620.5_Missense_Mutation_p.M26I|RGS3_ENST00000350696.5_Missense_Mutation_p.M1056I|RGS3_ENST00000462143.1_Missense_Mutation_p.M377I	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1056					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGACAAAATGATGAAGTCAT	0.592																																																	0													51.0	60.0	57.0					9																	116356797		2203	4300	6503	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3168G>C	9.37:g.116356797G>C	ENSP00000363255:p.Met1056Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.M1056I	ENST00000374140.2	37	c.3168	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750226	0.30955	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000342620;ENST00000374134;ENST00000467805;ENST00000462403	T;T;T;T;T;T;T;T;T	0.76060	0.97;0.97;0.47;-0.0;0.46;0.61;0.46;-0.99;0.54	5.15	3.29	0.37713	.	0.707278	0.13509	N	0.382650	T	0.57388	0.2050	N	0.22421	0.69	0.22468	N	0.999079	B;B;B;B;B;B	0.18461	0.0;0.008;0.009;0.021;0.005;0.028	B;B;B;B;B;B	0.15052	0.002;0.003;0.012;0.012;0.005;0.009	T	0.40384	-0.9566	10	0.22109	T	0.4	.	8.1021	0.30863	0.1908:0.0:0.8092:0.0	.	449;169;952;775;946;1056	B3KUB2;Q5VZ06;P49796-6;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	I	1056;1056;775;449;224;377;26;377;222;169	ENSP00000363255:M1056I;ENSP00000259406:M1056I;ENSP00000340284:M775I;ENSP00000378141:M449I;ENSP00000420356:M377I;ENSP00000343359:M26I;ENSP00000363249:M377I;ENSP00000417994:M222I;ENSP00000436168:M169I	ENSP00000343359:M26I	M	+	3	0	RGS3	115396618	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	0.980000	0.29513	0.556000	0.29098	0.650000	0.86243	ATG	RGS3	-	NULL		0.592	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	G	NM_017790		116356797	+1	no_errors	ENST00000350696	ensembl	human	known	70_37	missense	SNP	1.000	C
RHBDD2	57414	genome.wustl.edu	37	7	75510757	75510757	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:75510757C>T	ENST00000006777.6	+	2	313				RHBDD2_ENST00000318622.4_5'UTR|RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000428119.1_5'Flank	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2							Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						CCCACTCAATCCACCCCGAAG	0.453																																																	0																																										SO:0001627	intron_variant	57414			AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.179-390C>T	7.37:g.75510757C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	RNA	SNP	-	NULL	ENST00000006777.6	37	NULL	CCDS43602.1	7																																																																																			RHBDD2	-	-		0.453	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDD2	HGNC	protein_coding	OTTHUMT00000344176.1	C	NM_020684		75510757	+1	no_errors	ENST00000466232	ensembl	human	putative	70_37	rna	SNP	0.125	T
RHBG	57127	genome.wustl.edu	37	1	156354268	156354268	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:156354268C>T	ENST00000368249.1	+	9	1272				RHBG_ENST00000400992.2_Intron|RHBG_ENST00000368246.2_Intron|RHBG_ENST00000494874.1_Intron|RHBG_ENST00000451864.2_Missense_Mutation_p.S355F|RHBG_ENST00000255013.3_Intron	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)						ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GCACCCTCCTCCATGGTGGGG	0.592											OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													34.0	40.0	38.0					1																	156354268		1953	4144	6097	SO:0001627	intron_variant	57127			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.1235-50C>T	1.37:g.156354268C>T		Somatic	1777	WXS	Illumina HiSeq	Phase_IV	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.S355F	ENST00000368249.1	37	c.1064		1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612552	0.46631	.	.	ENSG00000132677	ENST00000451864	T	0.36340	1.26	4.74	2.8	0.32819	.	.	.	.	.	T	0.16041	0.0386	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15235	-1.0444	6	0.41790	T	0.15	.	6.426	0.21770	0.1839:0.7164:0.0:0.0997	.	.	.	.	F	355	ENSP00000389836:S355F	ENSP00000389836:S355F	S	+	2	0	RHBG	154620892	0.000000	0.05858	0.023000	0.16930	0.152000	0.21847	0.342000	0.19926	1.112000	0.41740	0.561000	0.74099	TCC	RHBG	-	NULL		0.592	RHBG-001	NOVEL	basic	protein_coding	RHBG	HGNC	protein_coding	OTTHUMT00000060589.2	C	NM_001256395		156354268	+1	no_errors	ENST00000451864	ensembl	human	known	70_37	missense	SNP	0.017	T
RHEBL1	121268	genome.wustl.edu	37	12	49459141	49459141	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:49459141C>G	ENST00000301068.6	-	7	693	c.454G>C	c.(454-456)Gag>Cag	p.E152Q		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	152					GTP catabolic process (GO:0006184)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|small GTPase mediated signal transduction (GO:0007264)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(2)|large_intestine(2)|lung(5)	9						ACCTGATTCTCTCGAGCAGAT	0.498																																																	0													168.0	152.0	157.0					12																	49459141		2203	4300	6503	SO:0001583	missense	121268			AK098663	CCDS8778.1	12q13.12	2014-05-09				ENSG00000167550			21166	protein-coding gene	gene with protein product						12477932	Standard	NM_144593		Approved	MGC34869, FLJ25797	uc001rtc.1	Q8TAI7	OTTHUMG00000170407	ENST00000301068.6:c.454G>C	12.37:g.49459141C>G	ENSP00000301068:p.Glu152Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q56VH8	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E152Q	ENST00000301068.6	37	c.454	CCDS8778.1	12	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682162	0.29872	.	.	ENSG00000167550	ENST00000301068	T	0.80566	-1.39	5.82	3.0	0.34707	Small GTP-binding protein domain (1);	0.332724	0.34268	N	0.004116	T	0.66944	0.2841	L	0.33710	1.025	0.32510	N	0.537701	B	0.20887	0.049	B	0.18263	0.021	T	0.62253	-0.6893	10	0.15952	T	0.53	.	9.3035	0.37861	0.0:0.7671:0.0:0.2329	.	152	Q8TAI7	REBL1_HUMAN	Q	152	ENSP00000301068:E152Q	ENSP00000301068:E152Q	E	-	1	0	RHEBL1	47745408	1.000000	0.71417	0.991000	0.47740	0.947000	0.59692	1.564000	0.36375	0.806000	0.34183	0.655000	0.94253	GAG	RHEBL1	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.498	RHEBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHEBL1	HGNC	protein_coding	OTTHUMT00000408969.1	C	NM_144593		49459141	-1	no_errors	ENST00000301068	ensembl	human	known	70_37	missense	SNP	0.995	G
RHOG	391	genome.wustl.edu	37	11	3848823	3848823	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:3848823G>C	ENST00000351018.4	-	2	703	c.546C>G	c.(544-546)atC>atG	p.I182M	RHOG_ENST00000396979.1_Missense_Mutation_p.I182M|RHOG_ENST00000533217.1_Missense_Mutation_p.I182M|RHOG_ENST00000396978.1_Missense_Mutation_p.I182M	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN	ras homolog family member G	182					actin cytoskeleton organization (GO:0030036)|activation of Rac GTPase activity (GO:0032863)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|GTP catabolic process (GO:0006184)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of transcription, DNA-templated (GO:0045893)|Rac protein signal transduction (GO:0016601)|regulation of ruffle assembly (GO:1900027)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		GCCCACGCTTGATCGGCGTGG	0.642																																																	0													41.0	35.0	37.0					11																	3848823		2201	4298	6499	SO:0001583	missense	391			X61587	CCDS7748.1	11p15.5-p15.4	2012-02-27	2012-02-27	2004-03-24	ENSG00000177105	ENSG00000177105			672	protein-coding gene	gene with protein product		179505	"""ras homolog gene family, member G (rho G)"""	ARHG		8325658	Standard	NM_001665		Approved	RhoG, MGC125835, MGC125836	uc001lyu.2	P84095	OTTHUMG00000012287	ENST00000351018.4:c.546C>G	11.37:g.3848823G>C	ENSP00000339467:p.Ile182Met	Somatic		WXS	Illumina HiSeq	Phase_IV	P35238|Q8NI04	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I182M	ENST00000351018.4	37	c.546	CCDS7748.1	11	.	.	.	.	.	.	.	.	.	.	G	1.398	-0.578977	0.03854	.	.	ENSG00000177105	ENST00000351018;ENST00000396979;ENST00000396978;ENST00000533217	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.05	3.12	0.35913	.	0.744576	0.13210	N	0.405229	T	0.43875	0.1267	N	0.08118	0	0.29563	N	0.850513	B	0.23058	0.079	B	0.17722	0.019	T	0.39542	-0.9609	10	0.49607	T	0.09	.	7.7072	0.28657	0.0:0.1563:0.4986:0.3451	.	182	P84095	RHOG_HUMAN	M	182	ENSP00000339467:I182M;ENSP00000380176:I182M;ENSP00000380175:I182M;ENSP00000436932:I182M	ENSP00000339467:I182M	I	-	3	3	RHOG	3805399	0.999000	0.42202	0.971000	0.41717	0.010000	0.07245	2.383000	0.44354	0.647000	0.30713	0.655000	0.94253	ATC	RHOG	-	smart_Ran_GTPase		0.642	RHOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOG	HGNC	protein_coding	OTTHUMT00000034125.2	G	NM_001665		3848823	-1	no_errors	ENST00000351018	ensembl	human	known	70_37	missense	SNP	0.923	C
RHOU	58480	genome.wustl.edu	37	1	228879058	228879058	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:228879058C>G	ENST00000366691.3	+	3	1014	c.348C>G	c.(346-348)ctC>ctG	p.L116L		NM_021205.5	NP_067028.1			ras homolog family member U											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				TGAGGCCTCTCTGCTACACCA	0.458																																																	0													206.0	211.0	209.0					1																	228879058		2203	4300	6503	SO:0001819	synonymous_variant	58480				CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"""Ryu GTPase"", ""Wnt-1 responsive Cdc42 homolog"", ""2310026M05Rik"", ""GTP-binding protein like 1"", ""CDC42-like GTPase"", ""GTP-binding protein SB128"", ""ras-like gene family member U"""	606366	"""ras homolog gene family, member U"""	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.348C>G	1.37:g.228879058C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L116	ENST00000366691.3	37	c.348	CCDS1575.1	1																																																																																			RHOU	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.458	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOU	HGNC	protein_coding	OTTHUMT00000092555.1	C	NM_021205		228879058	+1	no_errors	ENST00000366691	ensembl	human	known	70_37	silent	SNP	1.000	G
RIBC2	26150	genome.wustl.edu	37	22	45813487	45813487	+	5'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:45813487G>A	ENST00000342894.3	+	0	412				RIBC2_ENST00000538017.1_Missense_Mutation_p.E68K			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2							nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCCAGCTGCTGAAATGAGGCA	0.328																																																	0													42.0	42.0	42.0					22																	45813487		2203	4300	6503	SO:0001623	5_prime_UTR_variant	26150			AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 11"""	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.-3G>A	22.37:g.45813487G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ICD0|Q9Y413	Missense_Mutation	SNP	pfam_RIB43A	p.E68K	ENST00000342894.3	37	c.202		22	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841574	0.71488	.	.	ENSG00000128408	ENST00000538017	T	0.22134	1.97	4.85	4.85	0.62838	.	.	.	.	.	T	0.34542	0.0901	.	.	.	0.45272	D	0.998272	.	.	.	.	.	.	T	0.02837	-1.1104	6	0.41790	T	0.15	.	13.6903	0.62542	0.0:0.1547:0.8453:0.0	.	.	.	.	K	68	ENSP00000444196:E68K	ENSP00000444196:E68K	E	+	1	0	RIBC2	44192151	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	4.019000	0.57181	2.219000	0.72066	0.563000	0.77884	GAA	RIBC2	-	pfam_RIB43A		0.328	RIBC2-001	KNOWN	basic	protein_coding	RIBC2	HGNC	protein_coding	OTTHUMT00000322250.1	G	NM_015653		45813487	+1	no_errors	ENST00000538017	ensembl	human	known	70_37	missense	SNP	0.999	A
RIF1	55183	genome.wustl.edu	37	2	152316615	152316616	+	Frame_Shift_Ins	INS	-	-	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:152316615_152316616insA	ENST00000243326.5	+	25	3540_3541	c.3057_3058insA	c.(3058-3060)atgfs	p.M1020fs	RIF1_ENST00000430328.2_Frame_Shift_Ins_p.M1020fs|RIF1_ENST00000453091.2_Frame_Shift_Ins_p.M1020fs|RIF1_ENST00000444746.2_Frame_Shift_Ins_p.M1020fs|RIF1_ENST00000428287.2_Frame_Shift_Ins_p.M1020fs			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAAAGAAAATATGAAACCAGC	0.262																																																	0																																										SO:0001589	frameshift_variant	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.3058dupA	2.37:g.152316616_152316616dupA	ENSP00000243326:p.Met1020fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVS0|Q9NS16	Frame_Shift_Ins	INS	pfam_Rif1_N,superfamily_ARM-type_fold	p.M1019fs	ENST00000243326.5	37	c.3057_3058	CCDS2194.1	2																																																																																			RIF1	-	NULL		0.262	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	-			152316616	+1	no_errors	ENST00000243326	ensembl	human	known	70_37	frame_shift_ins	INS	0.455:0.405	A
RIF1	55183	genome.wustl.edu	37	2	152316618	152316618	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:152316618G>A	ENST00000243326.5	+	25	3543	c.3060G>A	c.(3058-3060)atG>atA	p.M1020I	RIF1_ENST00000430328.2_Missense_Mutation_p.M1020I|RIF1_ENST00000453091.2_Missense_Mutation_p.M1020I|RIF1_ENST00000444746.2_Missense_Mutation_p.M1020I|RIF1_ENST00000428287.2_Missense_Mutation_p.M1020I			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGAAAATATGAAACCAGCAG	0.259																																																	0													23.0	25.0	25.0					2																	152316618		2174	4274	6448	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.3060G>A	2.37:g.152316618G>A	ENSP00000243326:p.Met1020Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVS0|Q9NS16	Missense_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.M1020I	ENST00000243326.5	37	c.3060	CCDS2194.1	2	.	.	.	.	.	.	.	.	.	.	G	4.791	0.147158	0.09134	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.78	2.49	0.30216	.	1.060310	0.07151	N	0.849172	T	0.25754	0.0627	L	0.44542	1.39	0.27295	N	0.95774	B;B	0.25904	0.0;0.137	B;B	0.18561	0.002;0.022	T	0.22906	-1.0203	10	0.34782	T	0.22	-1.1439	7.6799	0.28507	0.1724:0.1412:0.6864:0.0	.	1020;1020	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	I	1020	ENSP00000390181:M1020I;ENSP00000414615:M1020I;ENSP00000415691:M1020I;ENSP00000243326:M1020I;ENSP00000416123:M1020I	ENSP00000243326:M1020I	M	+	3	0	RIF1	152024864	0.005000	0.15991	0.082000	0.20525	0.363000	0.29612	1.164000	0.31810	0.753000	0.32945	0.555000	0.69702	ATG	RIF1	-	NULL		0.259	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	G			152316618	+1	no_errors	ENST00000243326	ensembl	human	known	70_37	missense	SNP	0.413	A
RILPL2	196383	genome.wustl.edu	37	12	123920680	123920680	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:123920680G>A	ENST00000280571.8	-	1	584	c.288C>T	c.(286-288)ctC>ctT	p.L96L		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	96					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|primary cilium (GO:0072372)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		CCTCCTTCCTGAGGTGGTCCC	0.682																																																	0													21.0	19.0	19.0					12																	123920680		2199	4300	6499	SO:0001819	synonymous_variant	196383			AB085763	CCDS9248.1	12q24.31	2007-11-27				ENSG00000150977			28787	protein-coding gene	gene with protein product		614093				14668488	Standard	NM_145058		Approved	MGC7036, FLJ30380, FLJ32372	uc001uey.1	Q969X0		ENST00000280571.8:c.288C>T	12.37:g.123920680G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_RILP	p.L96	ENST00000280571.8	37	c.288	CCDS9248.1	12																																																																																			RILPL2	-	NULL		0.682	RILPL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RILPL2	HGNC	protein_coding		G	NM_145058		123920680	-1	no_errors	ENST00000280571	ensembl	human	known	70_37	silent	SNP	0.000	A
RIMBP3	85376	genome.wustl.edu	37	22	20457822	20457822	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:20457822C>T	ENST00000426804.1	-	1	3964	c.3480G>A	c.(3478-3480)caG>caA	p.Q1160Q	RN7SKP131_ENST00000363006.1_RNA|SCARNA17_ENST00000516762.1_RNA|SCARNA18_ENST00000516215.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1160	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CTGAGACCTTCTGCCACGTGA	0.557																																																	0													32.0	40.0	37.0					22																	20457822		2012	4170	6182	SO:0001819	synonymous_variant	85376			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3480G>A	22.37:g.20457822C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IYP7|Q9BY94|Q9UFQ5	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain	p.Q1160	ENST00000426804.1	37	c.3480	CCDS46665.1	22																																																																																			RIMBP3	-	superfamily_Fibronectin_type3		0.557	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP3	HGNC	protein_coding	OTTHUMT00000318945.2	C	NM_015672		20457822	-1	no_errors	ENST00000426804	ensembl	human	known	70_37	silent	SNP	1.000	T
RIMS2	9699	genome.wustl.edu	37	8	104513169	104513169	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:104513169C>G	ENST00000406091.3	+	1	55	c.55C>G	c.(55-57)Cag>Gag	p.Q19E	RP11-1C8.4_ENST00000523422.1_RNA|RP11-1C8.4_ENST00000517376.1_RNA	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	19					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCGGCCTCTCAGCCGCCTCT	0.647										HNSCC(12;0.0054)																																							0													18.0	22.0	21.0					8																	104513169		1862	4075	5937	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.55C>G	8.37:g.104513169C>G	ENSP00000384892:p.Gln19Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.Q19E	ENST00000406091.3	37	c.55	CCDS55269.1	8	.	.	.	.	.	.	.	.	.	.	C	9.890	1.204042	0.22205	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	T;T	0.16597	2.33;2.82	3.89	3.89	0.44902	.	.	.	.	.	T	0.15565	0.0375	L	0.40543	1.245	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03981	-1.0987	9	0.45353	T	0.12	.	12.9549	0.58421	0.0:1.0:0.0:0.0	.	19	F8WD47	.	E	19	ENSP00000427018:Q19E;ENSP00000384892:Q19E	ENSP00000332184:Q19E	Q	+	1	0	RIMS2	104582345	0.771000	0.28555	0.984000	0.44739	0.841000	0.47740	2.800000	0.47900	1.863000	0.54032	0.561000	0.74099	CAG	RIMS2	-	NULL		0.647	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS2	HGNC	protein_coding		C	NM_001100117		104513169	+1	no_errors	ENST00000406091	ensembl	human	known	70_37	missense	SNP	1.000	G
RINL	126432	genome.wustl.edu	37	19	39361534	39361534	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:39361534C>T	ENST00000591812.1	-	8	786	c.700G>A	c.(700-702)Gag>Aag	p.E234K	RINL_ENST00000602238.1_5'Flank|RINL_ENST00000598904.1_Missense_Mutation_p.E120K|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000340740.3_Missense_Mutation_p.E120K			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	234	Glu-rich.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TCCTCCTCCTCTTCCAGTAGG	0.632																																																	0													62.0	68.0	66.0					19																	39361534		2203	4299	6502	SO:0001583	missense	126432			AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.700G>A	19.37:g.39361534C>T	ENSP00000467107:p.Glu234Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPG5	Missense_Mutation	SNP	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	p.E234K	ENST00000591812.1	37	c.700	CCDS59386.1	19	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584212	0.46110	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.49720	0.77	5.15	2.91	0.33838	.	2.507560	0.01166	N	0.006744	T	0.37598	0.1009	L	0.29908	0.895	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.12156	0.007;0.004	T	0.17048	-1.0382	10	0.20519	T	0.43	-20.8833	6.9846	0.24721	0.0:0.7753:0.0:0.2247	.	234;120	B4DPG5;Q6ZS11	.;RINL_HUMAN	K	120	ENSP00000340369:E120K	ENSP00000340369:E120K	E	-	1	0	RINL	44053374	0.000000	0.05858	0.192000	0.23308	0.009000	0.06853	-0.812000	0.04496	1.309000	0.44985	0.436000	0.28706	GAG	RINL	-	NULL		0.632	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RINL	HGNC	protein_coding	OTTHUMT00000460433.1	C	NM_198445		39361534	-1	no_errors	ENST00000591812	ensembl	human	known	70_37	missense	SNP	0.038	T
RIPK1	8737	genome.wustl.edu	37	6	3077045	3077045	+	5'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:3077045C>G	ENST00000259808.4	+	0	286				RIPK1_ENST00000479389.1_Intron|RIPK1_ENST00000541791.1_5'UTR|RIPK1_ENST00000380409.2_5'Flank			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TTTGGGCGTTCTTGAGCTTCA	0.453																																																	0													66.0	61.0	63.0					6																	3077045		2203	4300	6503	SO:0001623	5_prime_UTR_variant	8737			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.-13C>G	6.37:g.3077045C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	RNA	SNP	-	NULL	ENST00000259808.4	37	NULL	CCDS4482.1	6																																																																																			RIPK1	-	-		0.453	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK1	HGNC	protein_coding	OTTHUMT00000039659.2	C	NM_003804		3077045	+1	no_errors	ENST00000490396	ensembl	human	known	70_37	rna	SNP	0.008	G
RIPK1	8737	genome.wustl.edu	37	6	3081215	3081215	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:3081215G>C	ENST00000259808.4	+	4	622	c.324G>C	c.(322-324)atG>atC	p.M108I	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Intron|RIPK1_ENST00000380409.2_Missense_Mutation_p.M108I			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	108	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TGTTTTAGATGAGTACTCCGC	0.403																																																	0													88.0	84.0	85.0					6																	3081215		2203	4300	6503	SO:0001583	missense	8737			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.324G>C	6.37:g.3081215G>C	ENSP00000259808:p.Met108Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.M108I	ENST00000259808.4	37	c.324	CCDS4482.1	6	.	.	.	.	.	.	.	.	.	.	G	1.739	-0.492179	0.04322	.	.	ENSG00000137275	ENST00000259808;ENST00000380409	T;T	0.64618	-0.11;-0.11	5.64	2.78	0.32641	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.850395	0.11075	N	0.602463	T	0.13628	0.0330	N	0.04746	-0.17	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.21861	-1.0233	10	0.19147	T	0.46	-0.5938	2.6524	0.05003	0.1309:0.5397:0.1293:0.2001	.	108	Q13546	RIPK1_HUMAN	I	108	ENSP00000259808:M108I;ENSP00000369773:M108I	ENSP00000259808:M108I	M	+	3	0	RIPK1	3026214	0.000000	0.05858	0.091000	0.20842	0.105000	0.19272	0.131000	0.15870	0.697000	0.31718	-0.165000	0.13383	ATG	RIPK1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.403	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK1	HGNC	protein_coding	OTTHUMT00000039659.2	G	NM_003804		3081215	+1	no_errors	ENST00000259808	ensembl	human	known	70_37	missense	SNP	0.002	C
RIPK3	11035	genome.wustl.edu	37	14	24807137	24807137	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:24807137C>T	ENST00000216274.5	-	6	992	c.774G>A	c.(772-774)ctG>ctA	p.L258L	RIPK3_ENST00000554338.1_5'Flank|RP11-934B9.3_ENST00000555591.1_5'Flank|ADCY4_ENST00000554068.2_5'Flank|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000310677.4_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	258	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TTAGCTCCTTCAGTCCTTCTA	0.577																																					Pancreas(58;918 1191 4668 13304 15331)												0													58.0	59.0	59.0					14																	24807137		2203	4300	6503	SO:0001819	synonymous_variant	11035			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.774G>A	14.37:g.24807137C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L258	ENST00000216274.5	37	c.774	CCDS9628.1	14																																																																																			RIPK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.577	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK3	HGNC	protein_coding	OTTHUMT00000073203.4	C	NM_006871		24807137	-1	no_errors	ENST00000216274	ensembl	human	known	70_37	silent	SNP	0.393	T
RMI2	116028	genome.wustl.edu	37	16	11410844	11410844	+	3'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:11410844G>A	ENST00000572992.1	+	0	885				RMI2_ENST00000381820.2_Intron|Y_RNA_ENST00000362798.1_RNA|RMI2_ENST00000572173.1_Intron			Q96E14	RMI2_HUMAN	RecQ mediated genome instability 2						DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.0?(1)		endometrium(1)|kidney(1)|ovary(1)	3						GGCAACTGGAGAGGGATGGAG	0.557																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)																																								SO:0001624	3_prime_UTR_variant	116028			AK123764	CCDS10548.1	16p13.13	2013-06-10	2013-06-10	2011-06-09	ENSG00000175643	ENSG00000175643			28349	protein-coding gene	gene with protein product		612426	"""chromosome 16 open reading frame 75"", ""RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae)"""	C16orf75		18923083, 20826341	Standard	NM_152308		Approved	MGC24665, BLAP18	uc002daw.1	Q96E14	OTTHUMG00000129793	ENST00000572992.1:c.*882G>A	16.37:g.11410844G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVZ6|Q49AE2|Q8TBL0	RNA	SNP	-	NULL	ENST00000572992.1	37	NULL		16																																																																																			RMI2	-	-		0.557	RMI2-004	KNOWN	basic	processed_transcript	RMI2	HGNC	protein_coding	OTTHUMT00000436709.1	G	NM_152308		11410844	+1	no_errors	ENST00000572992	ensembl	human	known	70_37	rna	SNP	0.000	A
RNASE10	338879	genome.wustl.edu	37	14	20978826	20978826	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:20978826G>A	ENST00000328444.5	+	1	215	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	RNASE10_ENST00000430083.1_Missense_Mutation_p.E94K	NM_001012975.1	NP_001012993.1	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	66					epithelial cell morphogenesis (GO:0003382)|heterotypic cell-cell adhesion (GO:0034113)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of sperm motility (GO:1902093)|regulation of fertilization (GO:0080154)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CCAAACCACAGAAACGCTGGT	0.532																																																	0													85.0	86.0	86.0					14																	20978826		2203	4300	6503	SO:0001583	missense	338879				CCDS32035.1	14q11.1	2004-11-16				ENSG00000182545		"""Ribonucleases, RNase A"""	19275	protein-coding gene	gene with protein product						12920233	Standard	XM_005267584		Approved	RNASE9	uc010tlj.2	Q5GAN6		ENST00000328444.5:c.196G>A	14.37:g.20978826G>A	ENSP00000333358:p.Glu66Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUQ3|B4DKY4	Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.E66K	ENST00000328444.5	37	c.196	CCDS32035.1	14	.	.	.	.	.	.	.	.	.	.	G	8.221	0.802598	0.16397	.	.	ENSG00000182545	ENST00000430083;ENST00000328444	T;T	0.22743	1.94;1.97	4.29	3.39	0.38822	.	2.596790	0.01256	N	0.009001	T	0.18509	0.0444	L	0.34521	1.04	0.09310	N	1	B;B	0.33266	0.192;0.404	B;B	0.27715	0.048;0.082	T	0.19418	-1.0306	10	0.42905	T	0.14	-3.5113	8.1251	0.30995	0.1078:0.0:0.8922:0.0	.	66;94	Q5GAN6;B4DKY4	RNS10_HUMAN;.	K	94;66	ENSP00000392996:E94K;ENSP00000333358:E66K	ENSP00000333358:E66K	E	+	1	0	RNASE10	20048666	0.525000	0.26290	0.042000	0.18584	0.007000	0.05969	1.197000	0.32211	1.387000	0.46486	0.655000	0.94253	GAA	RNASE10	-	NULL		0.532	RNASE10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE10	HGNC	protein_coding	OTTHUMT00000411088.1	G	XM_292225		20978826	+1	no_errors	ENST00000328444	ensembl	human	known	70_37	missense	SNP	0.052	A
RND2	8153	genome.wustl.edu	37	17	41177413	41177413	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:41177413G>C	ENST00000587250.2	+	1	156	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	RND2_ENST00000544533.1_Missense_Mutation_p.E17Q|VAT1_ENST00000355653.3_5'Flank			P52198	RND2_HUMAN	Rho family GTPase 2	17					GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGGAGACGCAGAGTGCGGCAA	0.726																																																	0													22.0	16.0	18.0					17																	41177413		2082	4120	6202	SO:0001583	missense	8153			X95456	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830			18315	protein-coding gene	gene with protein product		601555	"""ras homolog gene family, member N"""	ARHN			Standard	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	P52198	OTTHUMG00000180817	ENST00000587250.2:c.49G>C	17.37:g.41177413G>C	ENSP00000466680:p.Glu17Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2D4|O00690|O00734|Q5U0P6|Q99535	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E17Q	ENST00000587250.2	37	c.49	CCDS11452.1	17	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673431	0.29693	.	.	ENSG00000108830	ENST00000544533;ENST00000225973	T	0.69926	-0.44	4.52	3.51	0.40186	Small GTP-binding protein domain (1);	0.069917	0.64402	D	0.000019	T	0.39733	0.1089	N	0.01686	-0.76	0.42171	D	0.99164	B	0.06786	0.001	B	0.10450	0.005	T	0.21793	-1.0235	10	0.36615	T	0.2	.	13.0081	0.58717	0.0:0.525:0.475:0.0	.	17	P52198	RND2_HUMAN	Q	17	ENSP00000439328:E17Q	ENSP00000225973:E17Q	E	+	1	0	RND2	38430939	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	3.933000	0.56545	1.056000	0.40484	0.442000	0.29010	GAG	RND2	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.726	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RND2	HGNC	protein_coding	OTTHUMT00000453111.2	G	NM_005440		41177413	+1	no_errors	ENST00000544533	ensembl	human	known	70_37	missense	SNP	1.000	C
RNF103	7844	genome.wustl.edu	37	2	86831217	86831217	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:86831217C>G	ENST00000237455.4	-	4	2775	c.1807G>C	c.(1807-1809)Gat>Cat	p.D603H	CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000424788.1_RNA|RNF103_ENST00000477307.1_5'Flank|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	603					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GGTTCCATATCTTCATTAGTG	0.413																																																	0													258.0	244.0	249.0					2																	86831217		2203	4300	6503	SO:0001583	missense	7844			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1807G>C	2.37:g.86831217C>G	ENSP00000237455:p.Asp603His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING	p.D603H	ENST00000237455.4	37	c.1807	CCDS33237.1	2	.	.	.	.	.	.	.	.	.	.	C	3.718	-0.058081	0.07317	.	.	ENSG00000239305	ENST00000237455	T	0.46451	0.87	5.44	5.44	0.79542	.	0.123265	0.64402	D	0.000014	T	0.41305	0.1153	L	0.39898	1.24	0.43036	D	0.994619	P	0.45902	0.868	B	0.43052	0.406	T	0.20371	-1.0277	10	0.35671	T	0.21	-12.1081	19.268	0.93997	0.0:1.0:0.0:0.0	.	603	O00237	RN103_HUMAN	H	603	ENSP00000237455:D603H	ENSP00000237455:D603H	D	-	1	0	RNF103	86684728	0.999000	0.42202	0.989000	0.46669	0.148000	0.21650	2.303000	0.43646	2.551000	0.86045	0.404000	0.27445	GAT	RNF103	-	NULL		0.413	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF103	HGNC	protein_coding	OTTHUMT00000330041.2	C	NM_005667		86831217	-1	no_errors	ENST00000237455	ensembl	human	known	70_37	missense	SNP	0.980	G
RNF112	7732	genome.wustl.edu	37	17	19318403	19318403	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:19318403G>C	ENST00000461366.1	+	11	1394	c.1179G>C	c.(1177-1179)ctG>ctC	p.L393L	CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	393	GB1/RHD3-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CAGATGTGCTGAGTGCGGCCC	0.652																																																	0													16.0	19.0	18.0					17																	19318403		1971	4152	6123	SO:0001819	synonymous_variant	7732			AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.1179G>C	17.37:g.19318403G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O60633|Q7Z5V9	Silent	SNP	pfam_Guanylate-bd_N,smart_Znf_RING,pfscan_Znf_RING	p.L276	ENST00000461366.1	37	c.828	CCDS58529.1	17																																																																																			RNF112	-	NULL		0.652	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	RNF112	HGNC	protein_coding	OTTHUMT00000132549.4	G	NM_007148		19318403	+1	no_errors	ENST00000453070	ensembl	human	known	70_37	silent	SNP	0.012	C
RNF126P1	376412	genome.wustl.edu	37	17	55123001	55123001	+	RNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:55123001G>A	ENST00000567452.1	+	0	163					NR_002818.2				ring finger protein 126 pseudogene 1																		GGAGCTTCCTGAAGAGACCAG	0.597																																																	0																																												376412			BC033555		17q23.2	2004-04-22				ENSG00000261192		"""RING-type (C3HC4) zinc fingers"""	30340	pseudogene	pseudogene						12477932	Standard	NR_002818		Approved		uc002iuw.3				17.37:g.55123001G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000567452.1	37	NULL		17																																																																																			RNF126P1	-	-		0.597	RNF126P1-002	KNOWN	basic	processed_transcript	RNF126P1	HGNC	pseudogene	OTTHUMT00000431453.1	G			55123001	+1	no_errors	ENST00000567452	ensembl	human	known	70_37	rna	SNP	0.990	A
RNF168	165918	genome.wustl.edu	37	3	196210737	196210737	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:196210737G>A	ENST00000318037.3	-	4	1178	c.584C>T	c.(583-585)tCg>tTg	p.S195L		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	195					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GGGAGAAGCCGAGATACTTCC	0.328																																																	0													177.0	179.0	178.0					3																	196210737		2203	4300	6503	SO:0001583	missense	165918			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.584C>T	3.37:g.196210737G>A	ENSP00000320898:p.Ser195Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NA67|Q96NS4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S195L	ENST00000318037.3	37	c.584	CCDS3317.1	3	.	.	.	.	.	.	.	.	.	.	G	0.182	-1.061291	0.01950	.	.	ENSG00000163961	ENST00000318037	T	0.06218	3.33	5.85	0.362	0.16113	.	0.869573	0.09768	N	0.758315	T	0.02083	0.0065	N	0.01048	-1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48625	-0.9019	10	0.14252	T	0.57	1.5839	9.4084	0.38475	0.606:0.0:0.394:0.0	.	195	Q8IYW5	RN168_HUMAN	L	195	ENSP00000320898:S195L	ENSP00000320898:S195L	S	-	2	0	RNF168	197695134	0.000000	0.05858	0.069000	0.20011	0.104000	0.19210	0.066000	0.14489	0.078000	0.16900	-0.982000	0.02568	TCG	RNF168	-	NULL		0.328	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF168	HGNC	protein_coding	OTTHUMT00000340778.1	G	NM_152617		196210737	-1	no_errors	ENST00000318037	ensembl	human	known	70_37	missense	SNP	0.000	A
RNF17	56163	genome.wustl.edu	37	13	25442795	25442795	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:25442795C>G	ENST00000255324.5	+	31	4271	c.4219C>G	c.(4219-4221)Ctg>Gtg	p.L1407V	RNF17_ENST00000381921.1_Missense_Mutation_p.L1365V|RNF17_ENST00000339524.3_Missense_Mutation_p.L417V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1407					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GTCTTCATCTCTGCCTTCCCC	0.368																																																	0													179.0	168.0	172.0					13																	25442795		2203	4300	6503	SO:0001583	missense	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4219C>G	13.37:g.25442795C>G	ENSP00000255324:p.Leu1407Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.L1407V	ENST00000255324.5	37	c.4219	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838033	0.50951	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	T;T;T;T	0.27402	3.05;2.63;2.14;1.67	5.93	5.93	0.95920	.	0.225948	0.30392	N	0.009740	T	0.49575	0.1565	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	0.999;0.986;1.0;0.985	D;P;D;P	0.83275	0.991;0.799;0.996;0.8	T	0.30327	-0.9982	10	0.33940	T	0.23	-7.1836	12.4466	0.55654	0.0:0.923:0.0:0.077	.	1403;417;1401;1407	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	V	1407;1365;731;417	ENSP00000255324:L1407V;ENSP00000371346:L1365V;ENSP00000388892:L731V;ENSP00000344776:L417V	ENSP00000255324:L1407V	L	+	1	2	RNF17	24340795	0.963000	0.33076	0.954000	0.39281	0.130000	0.20726	2.213000	0.42844	2.826000	0.97356	0.655000	0.94253	CTG	RNF17	-	NULL		0.368	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	C	NM_031994		25442795	+1	no_errors	ENST00000255324	ensembl	human	known	70_37	missense	SNP	0.993	G
RNF19A	25897	genome.wustl.edu	37	8	101270981	101270981	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:101270981G>C	ENST00000519449.1	-	11	2636	c.2320C>G	c.(2320-2322)Cag>Gag	p.Q774E	RNF19A_ENST00000523255.1_5'Flank|RNF19A_ENST00000341084.2_Missense_Mutation_p.Q774E	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	774	Interaction with CASR.				microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ATGCTACACTGATGTGGGGAA	0.398																																																	0													94.0	96.0	95.0					8																	101270981		2203	4300	6503	SO:0001583	missense	25897			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.2320C>G	8.37:g.101270981G>C	ENSP00000428968:p.Gln774Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.Q774E	ENST00000519449.1	37	c.2320	CCDS6286.1	8	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239886	0.39598	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.83163	-1.69;-1.69	5.96	5.96	0.96718	.	0.242338	0.42964	D	0.000621	T	0.79311	0.4424	L	0.36672	1.1	0.42403	D	0.992579	B	0.13145	0.007	B	0.09377	0.004	T	0.72915	-0.4147	10	0.56958	D	0.05	.	20.0118	0.97458	0.0:0.0:1.0:0.0	.	774	Q9NV58	RN19A_HUMAN	E	774	ENSP00000428968:Q774E;ENSP00000342667:Q774E	ENSP00000342667:Q774E	Q	-	1	0	RNF19A	101340157	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.624000	0.74243	2.819000	0.97034	0.585000	0.79938	CAG	RNF19A	-	NULL		0.398	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF19A	HGNC	protein_coding	OTTHUMT00000380004.1	G	NM_015435		101270981	-1	no_errors	ENST00000341084	ensembl	human	known	70_37	missense	SNP	1.000	C
RNF216	54476	genome.wustl.edu	37	7	5800731	5800731	+	5'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:5800731G>C	ENST00000425013.2	-	0	194				RNF216_ENST00000389902.3_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216						apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ATATGGGACTGCTAATATCTA	0.388																																																	0													132.0	112.0	119.0					7																	5800731		2203	4300	6503	SO:0001623	5_prime_UTR_variant	54476			AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.-31C>G	7.37:g.5800731G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	RNA	SNP	-	NULL	ENST00000425013.2	37	NULL	CCDS34595.1	7																																																																																			RNF216	-	-		0.388	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF216	HGNC	protein_coding	OTTHUMT00000340374.1	G	NM_207111		5800731	-1	no_errors	ENST00000476345	ensembl	human	known	70_37	rna	SNP	0.099	C
RNF220	55182	genome.wustl.edu	37	1	44878382	44878382	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:44878382C>G	ENST00000355387.2	+	2	1063	c.613C>G	c.(613-615)Cgg>Ggg	p.R205G	RNF220_ENST00000372247.2_Missense_Mutation_p.R205G|RNF220_ENST00000361799.2_Missense_Mutation_p.R205G			Q5VTB9	RN220_HUMAN	ring finger protein 220	205					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CCCAGAGGATCGGAATGACAG	0.522																																																	0													96.0	86.0	89.0					1																	44878382		2203	4300	6503	SO:0001583	missense	55182			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.613C>G	1.37:g.44878382C>G	ENSP00000347548:p.Arg205Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	superfamily_Peptidase_M20_dimer,pfscan_Znf_RING	p.R205G	ENST00000355387.2	37	c.613	CCDS510.1	1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.602295	0.28534	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.69	4.71	0.59529	.	0.069805	0.56097	D	0.000023	T	0.66458	0.2791	L	0.40543	1.245	0.80722	D	1	D	0.60160	0.987	D	0.65010	0.931	T	0.64651	-0.6357	9	0.40728	T	0.16	.	16.6252	0.84968	0.1562:0.8438:0.0:0.0	.	205	Q5VTB9	RN220_HUMAN	G	205	.	ENSP00000347548:R205G	R	+	1	2	RNF220	44650969	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.736000	0.55052	2.684000	0.91462	0.655000	0.94253	CGG	RNF220	-	NULL		0.522	RNF220-001	KNOWN	basic|CCDS	protein_coding	RNF220	HGNC	protein_coding	OTTHUMT00000020683.4	C	NM_018150		44878382	+1	no_errors	ENST00000355387	ensembl	human	known	70_37	missense	SNP	1.000	G
RNF40	9810	genome.wustl.edu	37	16	30777520	30777520	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30777520G>C	ENST00000324685.6	+	9	1465	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	RNF40_ENST00000563683.1_Intron|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	344					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGAAAACCAGGAACTGGCCAA	0.597																																																	0													69.0	74.0	72.0					16																	30777520		2197	4300	6497	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1030G>C	16.37:g.30777520G>C	ENSP00000325677:p.Glu344Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E344Q	ENST00000324685.6	37	c.1030	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036873	0.93630	.	.	ENSG00000103549	ENST00000324685;ENST00000452273	T	0.34667	1.35	5.8	5.8	0.92144	.	0.047482	0.85682	D	0.000000	T	0.63780	0.2540	M	0.84948	2.725	0.80722	D	1	D;D	0.65815	0.995;0.986	P;P	0.61275	0.886;0.828	T	0.67875	-0.5557	10	0.66056	D	0.02	-3.083	18.8306	0.92137	0.0:0.0:1.0:0.0	.	344;344	A8K6K1;O75150	.;BRE1B_HUMAN	Q	344;193	ENSP00000325677:E344Q	ENSP00000325677:E344Q	E	+	1	0	RNF40	30685021	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	8.988000	0.93501	2.747000	0.94245	0.462000	0.41574	GAA	RNF40	-	NULL		0.597	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	G	NM_014771		30777520	+1	no_errors	ENST00000324685	ensembl	human	known	70_37	missense	SNP	1.000	C
RNF40	9810	genome.wustl.edu	37	16	30778082	30778082	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30778082G>A	ENST00000324685.6	+	11	1749	c.1314G>A	c.(1312-1314)caG>caA	p.Q438Q	RNF40_ENST00000563683.1_Silent_p.Q398Q|RNF40_ENST00000402121.3_Silent_p.Q130Q|RNF40_ENST00000357890.5_Silent_p.Q338Q	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	438					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TGGGGCTGCAGAAGAAGCTAC	0.562																																																	0													65.0	46.0	53.0					16																	30778082		2197	4300	6497	SO:0001819	synonymous_variant	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1314G>A	16.37:g.30778082G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Silent	SNP	smart_Znf_RING,pfscan_Znf_RING	p.Q438	ENST00000324685.6	37	c.1314	CCDS10691.1	16																																																																																			RNF40	-	NULL		0.562	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	G	NM_014771		30778082	+1	no_errors	ENST00000324685	ensembl	human	known	70_37	silent	SNP	1.000	A
RNF40	9810	genome.wustl.edu	37	16	30778146	30778146	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30778146G>A	ENST00000324685.6	+	11	1813	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	RNF40_ENST00000563683.1_Missense_Mutation_p.E420K|RNF40_ENST00000402121.3_Missense_Mutation_p.E152K|RNF40_ENST00000357890.5_Missense_Mutation_p.E360K	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	460					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CAAGGAGTATGAGATGCTGCG	0.597																																																	0													74.0	50.0	58.0					16																	30778146		2197	4300	6497	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1378G>A	16.37:g.30778146G>A	ENSP00000325677:p.Glu460Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E460K	ENST00000324685.6	37	c.1378	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.760545	0.96906	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.31769	1.48;1.48;1.48	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.62672	0.2447	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.998	T	0.67150	-0.5743	10	0.87932	D	0	-34.2882	18.7552	0.91830	0.0:0.0:1.0:0.0	.	152;360;460;460	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	K	460;360;152	ENSP00000325677:E460K;ENSP00000350563:E360K;ENSP00000384942:E152K	ENSP00000325677:E460K	E	+	1	0	RNF40	30685647	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.209000	0.95087	2.723000	0.93209	0.655000	0.94253	GAG	RNF40	-	NULL		0.597	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	G	NM_014771		30778146	+1	no_errors	ENST00000324685	ensembl	human	known	70_37	missense	SNP	1.000	A
RNF40	9810	genome.wustl.edu	37	16	30779455	30779455	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30779455C>G	ENST00000324685.6	+	13	2018	c.1583C>G	c.(1582-1584)tCc>tGc	p.S528C	RNF40_ENST00000563683.1_Missense_Mutation_p.S488C|RNF40_ENST00000402121.3_Missense_Mutation_p.S220C|RNF40_ENST00000357890.5_Missense_Mutation_p.S428C	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	528					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TCTGCCCACTCCACCCCCAAC	0.627																																																	0													61.0	69.0	67.0					16																	30779455		2197	4300	6497	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1583C>G	16.37:g.30779455C>G	ENSP00000325677:p.Ser528Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.S528C	ENST00000324685.6	37	c.1583	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	C	5.082	0.200698	0.09652	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.33865	1.39;1.39;1.39	5.23	3.11	0.35812	.	0.304632	0.31936	N	0.006833	T	0.41534	0.1163	L	0.43152	1.355	0.25197	N	0.990082	D;B;B;B	0.69078	0.997;0.0;0.001;0.001	P;B;B;B	0.60236	0.871;0.003;0.0;0.0	T	0.11155	-1.0599	10	0.48119	T	0.1	-13.1904	6.4578	0.21940	0.0:0.6672:0.1953:0.1375	.	220;428;528;528	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	C	528;428;220	ENSP00000325677:S528C;ENSP00000350563:S428C;ENSP00000384942:S220C	ENSP00000325677:S528C	S	+	2	0	RNF40	30686956	0.003000	0.15002	0.908000	0.35775	0.208000	0.24298	0.218000	0.17622	1.399000	0.46721	0.655000	0.94253	TCC	RNF40	-	NULL		0.627	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	C	NM_014771		30779455	+1	no_errors	ENST00000324685	ensembl	human	known	70_37	missense	SNP	1.000	G
RNF41	10193	genome.wustl.edu	37	12	56600398	56600398	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:56600398C>G	ENST00000345093.4	-	7	1156	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	RNF41_ENST00000552656.1_Missense_Mutation_p.E263Q|RNF41_ENST00000394013.2_Missense_Mutation_p.E192Q	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	263					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TGTCTAGTCTCTAGTGTGGCC	0.562											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													147.0	111.0	123.0					12																	56600398		2203	4300	6503	SO:0001583	missense	10193			AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"""RING-type (C3HC4) zinc fingers"""	18401	protein-coding gene	gene with protein product			"""ring finger protein 41"""				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.787G>C	12.37:g.56600398C>G	ENSP00000342755:p.Glu263Gln	Somatic	1016	WXS	Illumina HiSeq	Phase_IV	A6NFW0|B2RBT8|O75598	Missense_Mutation	SNP	pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH	p.E263Q	ENST00000345093.4	37	c.787	CCDS8909.1	12	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035477	0.93630	.	.	ENSG00000181852	ENST00000345093;ENST00000394013;ENST00000448057;ENST00000552656	T;T	0.11821	2.74;2.74	5.45	5.45	0.79879	USP8 interacting (1);	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.987	D;P	0.85130	0.997;0.848	T	0.00717	-1.1596	10	0.48119	T	0.1	-36.1228	18.4487	0.90695	0.0:1.0:0.0:0.0	.	250;263	B4E353;Q9H4P4	.;RNF41_HUMAN	Q	263;192;250;263	ENSP00000342755:E263Q;ENSP00000447303:E263Q	ENSP00000342755:E263Q	E	-	1	0	RNF41	54886665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.703000	0.84585	2.722000	0.93159	0.655000	0.94253	GAG	RNF41	-	pfam_USP8_interacting		0.562	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF41	HGNC	protein_coding	OTTHUMT00000408525.1	C	NM_005785		56600398	-1	no_errors	ENST00000345093	ensembl	human	known	70_37	missense	SNP	1.000	G
RNGTT	8732	genome.wustl.edu	37	6	89614556	89614556	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:89614556G>C	ENST00000369485.4	-	6	748	c.562C>G	c.(562-564)Cta>Gta	p.L188V	RNGTT_ENST00000538899.1_Missense_Mutation_p.L128V|RNGTT_ENST00000369475.3_Missense_Mutation_p.L188V|RNGTT_ENST00000265607.6_Missense_Mutation_p.L188V	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	188	TPase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TCTGGCAATAGAGGTGGGGGT	0.463																																																	0													110.0	95.0	100.0					6																	89614556		2203	4300	6503	SO:0001583	missense	8732			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.562C>G	6.37:g.89614556G>C	ENSP00000358497:p.Leu188Val	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase	p.L188V	ENST00000369485.4	37	c.562	CCDS5017.1	6	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260187	0.23051	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	T;T;T;T	0.29655	2.0;2.0;2.0;1.56	5.56	-2.26	0.06867	.	0.762731	0.11914	N	0.517388	T	0.03827	0.0108	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.42599	-0.9442	10	0.34782	T	0.22	.	12.9145	0.58199	0.1428:0.6017:0.2555:0.0	.	128;188;188;188	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	V	188;188;128;159;188	ENSP00000358497:L188V;ENSP00000265607:L188V;ENSP00000442609:L128V;ENSP00000358487:L188V	ENSP00000265607:L188V	L	-	1	2	RNGTT	89671275	0.535000	0.26370	0.996000	0.52242	0.992000	0.81027	-0.002000	0.12924	-0.066000	0.12998	0.655000	0.94253	CTA	RNGTT	-	pirsf_mRNA_cap_enz_bifunc		0.463	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNGTT	HGNC	protein_coding	OTTHUMT00000041469.1	G			89614556	-1	no_errors	ENST00000369485	ensembl	human	known	70_37	missense	SNP	0.045	C
GLOD4	51031	genome.wustl.edu	37	17	685696	685696	+	5'Flank	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:685696G>C	ENST00000301328.5	-	0	0				GLOD4_ENST00000536578.1_5'Flank|GLOD4_ENST00000301329.6_5'Flank|RNMTL1_ENST00000304478.4_Silent_p.A26A			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)		p.A26A(1)		endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACCTTGACGCGAGGCGCTGGG	0.677																																																	1	Substitution - coding silent(1)	lung(1)											30.0	34.0	33.0					17																	685696		2203	4299	6502	SO:0001631	upstream_gene_variant	55178			AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38			17.37:g.685696G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Silent	SNP	pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd	p.A26	ENST00000301328.5	37	c.78		17																																																																																			RNMTL1	-	NULL		0.677	GLOD4-005	KNOWN	basic	protein_coding	RNMTL1	HGNC	protein_coding	OTTHUMT00000437190.1	G	NM_016080		685696	+1	no_errors	ENST00000304478	ensembl	human	known	70_37	silent	SNP	0.220	C
RNPEP	6051	genome.wustl.edu	37	1	201973512	201973512	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:201973512C>G	ENST00000295640.4	+	10	1725	c.1682C>G	c.(1681-1683)cCa>cGa	p.P561R	RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.P522R|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	561					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GACACATACCCAAGTATCTCA	0.478																																					GBM(19;39 479 7473 13131 19462)												0													79.0	85.0	83.0					1																	201973512		2203	4300	6503	SO:0001583	missense	6051			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1682C>G	1.37:g.201973512C>G	ENSP00000295640:p.Pro561Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.P561R	ENST00000295640.4	37	c.1682	CCDS1418.1	1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545752	0.45280	.	.	ENSG00000176393	ENST00000295640;ENST00000367286	T;T	0.05382	4.07;3.45	5.5	3.57	0.40892	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.128140	0.53938	D	0.000057	T	0.15435	0.0372	L	0.57536	1.79	0.44241	D	0.997087	P;P	0.50943	0.94;0.94	P;P	0.62885	0.908;0.857	T	0.08106	-1.0738	10	0.19147	T	0.46	-12.1994	10.3562	0.43964	0.0:0.7897:0.1346:0.0757	.	569;561	Q7RU04;Q9H4A4	.;AMPB_HUMAN	R	561;522	ENSP00000295640:P561R;ENSP00000356255:P522R	ENSP00000295640:P561R	P	+	2	0	RNPEP	200240135	0.990000	0.36364	0.395000	0.26283	0.074000	0.17049	3.523000	0.53488	1.263000	0.44181	0.655000	0.94253	CCA	RNPEP	-	pfam_Peptidase_M1_C,superfamily_ARM-type_fold		0.478	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNPEP	HGNC	protein_coding	OTTHUMT00000087345.1	C	NM_020216		201973512	+1	no_errors	ENST00000295640	ensembl	human	known	70_37	missense	SNP	0.956	G
ROBO1	6091	genome.wustl.edu	37	3	78680360	78680360	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:78680360G>C	ENST00000464233.1	-	25	3690	c.3577C>G	c.(3577-3579)Cct>Gct	p.P1193A	ROBO1_ENST00000467549.1_Missense_Mutation_p.P1093A|ROBO1_ENST00000495273.1_Missense_Mutation_p.P1148A|ROBO1_ENST00000436010.2_Missense_Mutation_p.P1154A	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1193					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGTGGAGGAGGATGTGCTGGG	0.488																																																	0													194.0	191.0	192.0					3																	78680360		2090	4210	6300	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3577C>G	3.37:g.78680360G>C	ENSP00000420321:p.Pro1193Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P1193A	ENST00000464233.1	37	c.3577	CCDS54611.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.21|17.21	3.332283|3.332283	0.60853|0.60853	.|.	.|.	ENSG00000169855|ENSG00000169855	ENST00000472273|ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	.|D;D;D;D	.|0.84070	.|-1.8;-1.8;-1.8;-1.8	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89801|0.89801	0.6820|0.6820	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;B;P;P;B	.|0.76494	.|0.999;0.009;0.877;0.495;0.016	.|D;B;B;B;B	.|0.83275	.|0.996;0.016;0.265;0.077;0.036	D|D	0.88507|0.88507	0.3086|0.3086	5|9	.|.	.|.	.|.	.|.	19.484|19.484	0.95022|0.95022	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1157;1193;1148;1093;1154	.|Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.|.;ROBO1_HUMAN;.;.;.	M|A	119|1154;1148;1193;1148;1093;1197	.|ENSP00000406043:P1154A;ENSP00000420321:P1193A;ENSP00000420637:P1148A;ENSP00000417992:P1093A	.|.	I|P	-|-	3|1	3|0	ROBO1|ROBO1	78763050|78763050	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.780000|0.780000	0.44128|0.44128	9.420000|9.420000	0.97426|0.97426	2.669000|2.669000	0.90835|0.90835	0.650000|0.650000	0.86243|0.86243	ATC|CCT	ROBO1	-	NULL		0.488	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	G	NM_002941		78680360	-1	no_errors	ENST00000464233	ensembl	human	known	70_37	missense	SNP	1.000	C
RORC	6097	genome.wustl.edu	37	1	151780038	151780038	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:151780038G>C	ENST00000318247.6	-	11	1574	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	RORC_ENST00000392697.3_Silent_p.L543L|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000356728.6_Silent_p.L468L|LINGO4_ENST00000368820.3_5'Flank	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	489	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CGATGGGGTGGAGGTGCTGGA	0.582																																																	0													129.0	119.0	122.0					1																	151780038		2203	4300	6503	SO:0001819	synonymous_variant	6097			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1467C>G	1.37:g.151780038G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.L543	ENST00000318247.6	37	c.1629	CCDS1004.1	1																																																																																			RORC	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd		0.582	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RORC	HGNC	protein_coding	OTTHUMT00000036626.1	G			151780038	-1	no_errors	ENST00000392697	ensembl	human	known	70_37	silent	SNP	0.998	C
RPAP1	26015	genome.wustl.edu	37	15	41812581	41812581	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:41812581G>A	ENST00000304330.4	-	22	3912				RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1							nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCTGGGCTGAGAAAGTACCTG	0.617																																																	0													24.0	23.0	23.0					15																	41812581		2202	4299	6501	SO:0001627	intron_variant	26015			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.3795+7C>T	15.37:g.41812581G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.S1268F	ENST00000304330.4	37	c.3803	CCDS10079.1	15																																																																																			RPAP1	-	NULL		0.617	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	G	NM_015540		41812581	-1	no_errors	ENST00000562303	ensembl	human	known	70_37	missense	SNP	0.046	A
RPAP1	26015	genome.wustl.edu	37	15	41812658	41812658	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:41812658G>A	ENST00000304330.4	-	22	3842	c.3726C>T	c.(3724-3726)gtC>gtT	p.V1242V	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1242	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGCGCAAGGTGACACTGAACC	0.597																																																	0													45.0	41.0	43.0					15																	41812658		2203	4300	6503	SO:0001819	synonymous_variant	26015			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.3726C>T	15.37:g.41812658G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.V1242	ENST00000304330.4	37	c.3726	CCDS10079.1	15																																																																																			RPAP1	-	NULL		0.597	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	G	NM_015540		41812658	-1	no_errors	ENST00000304330	ensembl	human	known	70_37	silent	SNP	0.998	A
RPGRIP1	57096	genome.wustl.edu	37	14	21756215	21756215	+	Nonsense_Mutation	SNP	C	C	G	rs569126479		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:21756215C>G	ENST00000400017.2	+	1	80	c.80C>G	c.(79-81)tCa>tGa	p.S27*	RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.S27*|RPGRIP1_ENST00000206660.6_Nonsense_Mutation_p.S27*|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.S27*	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	27					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTACCAGCCTCAAAAGGTAAC	0.453																																																	0													134.0	121.0	125.0					14																	21756215		1884	4111	5995	SO:0001587	stop_gained	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.80C>G	14.37:g.21756215C>G	ENSP00000382895:p.Ser27*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Nonsense_Mutation	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.S27*	ENST00000400017.2	37	c.80	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414255	0.62511	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	.	.	.	3.99	-1.68	0.08212	.	3.462690	0.00875	N	0.002066	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.4618	4.8704	0.13629	0.0:0.3795:0.3406:0.2799	.	.	.	.	X	27	.	ENSP00000206660:S27X	S	+	2	0	RPGRIP1	20826055	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-0.825000	0.04433	-0.476000	0.06842	0.563000	0.77884	TCA	RPGRIP1	-	NULL		0.453	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	C	NM_020366		21756215	+1	no_errors	ENST00000206660	ensembl	human	known	70_37	nonsense	SNP	0.000	G
RPGRIP1	57096	genome.wustl.edu	37	14	21771605	21771605	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:21771605G>A	ENST00000400017.2	+	5	703	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E208K|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.E235K|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E208K	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	235					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CATGCAAGTGGAAGAGCCACC	0.458																																																	0													74.0	71.0	72.0					14																	21771605		1919	4138	6057	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.703G>A	14.37:g.21771605G>A	ENSP00000382895:p.Glu235Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.E235K	ENST00000400017.2	37	c.703	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958035	0.73902	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	4.92	4.92	0.64577	.	0.207001	0.40064	N	0.001192	T	0.35008	0.0917	L	0.59436	1.845	0.80722	D	1	P	0.43094	0.799	B	0.38378	0.272	T	0.26883	-1.0090	10	0.52906	T	0.07	-12.2765	13.4891	0.61384	0.0:0.0:1.0:0.0	.	235	Q96KN7	RPGR1_HUMAN	K	208;208;235;235	ENSP00000450445:E208K;ENSP00000451219:E208K;ENSP00000382895:E235K;ENSP00000206660:E235K	ENSP00000206660:E235K	E	+	1	0	RPGRIP1	20841445	0.988000	0.35896	0.982000	0.44146	0.961000	0.63080	1.880000	0.39628	2.553000	0.86117	0.655000	0.94253	GAA	RPGRIP1	-	NULL		0.458	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	G	NM_020366		21771605	+1	no_errors	ENST00000206660	ensembl	human	known	70_37	missense	SNP	0.998	A
RPGRIP1	57096	genome.wustl.edu	37	14	21780094	21780094	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:21780094G>A	ENST00000400017.2	+	8	1042	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E321K|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.E348K|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E321K	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	348					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAGCCAACTGGAAGATGTGTC	0.448																																																	0													50.0	49.0	49.0					14																	21780094		1907	4129	6036	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1042G>A	14.37:g.21780094G>A	ENSP00000382895:p.Glu348Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.E348K	ENST00000400017.2	37	c.1042	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028601	0.75390	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	T;T;T;T	0.74106	0.03;-0.79;-0.81;-0.81	5.64	4.71	0.59529	.	0.353337	0.33309	N	0.005054	T	0.72938	0.3523	L	0.57536	1.79	0.80722	D	1	D	0.57257	0.979	P	0.49252	0.604	T	0.67074	-0.5762	10	0.12430	T	0.62	-14.4398	13.3708	0.60711	0.0:0.0:0.8433:0.1567	.	348	Q96KN7	RPGR1_HUMAN	K	321;321;348;348	ENSP00000450445:E321K;ENSP00000451219:E321K;ENSP00000382895:E348K;ENSP00000206660:E348K	ENSP00000206660:E348K	E	+	1	0	RPGRIP1	20849934	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.692000	0.47018	2.937000	0.99478	0.650000	0.86243	GAA	RPGRIP1	-	NULL		0.448	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	G	NM_020366		21780094	+1	no_errors	ENST00000206660	ensembl	human	known	70_37	missense	SNP	1.000	A
RPL32P3	132241	genome.wustl.edu	37	3	129111991	129111991	+	RNA	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:129111991C>G	ENST00000514355.1	-	0	822									ribosomal protein L32 pseudogene 3											lung(1)	1						CTCAGCCCCTCAGGGCCGGGC	0.632																																																	0																																												132241			AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129111991C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000514355.1	37	NULL		3																																																																																			RPL32P3	-	-		0.632	RPL32P3-003	KNOWN	basic	processed_transcript	RPL32P3	HGNC	pseudogene	OTTHUMT00000355880.1	C			129111991	-1	no_errors	ENST00000514355	ensembl	human	known	70_37	rna	SNP	0.010	G
RPL7A	6130	genome.wustl.edu	37	9	136216849	136216849	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:136216849G>A	ENST00000323345.6	+	4	387	c.357G>A	c.(355-357)gaG>gaA	p.E119E	MED22_ENST00000471524.1_5'Flank|MED22_ENST00000371999.1_5'Flank|MED22_ENST00000476080.1_5'Flank|RPL7A_ENST00000463740.1_3'UTR|RPL7A_ENST00000315731.4_Intron|SNORD36A_ENST00000362874.1_RNA|SURF1_ENST00000495952.1_5'Flank|SNORD36C_ENST00000516733.1_RNA|SNORD24_ENST00000383884.1_RNA|MED22_ENST00000343730.5_5'Flank|MED22_ENST00000491289.1_5'Flank|MED22_ENST00000344469.5_5'Flank|SNORD36B_ENST00000363961.1_RNA	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	119					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		CCCGGGCCGAGAAGAAGGCTG	0.572																																																	0													52.0	57.0	55.0					9																	136216849		2203	4300	6503	SO:0001819	synonymous_variant	6130			BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"""L ribosomal proteins"""	10364	protein-coding gene	gene with protein product	"""surfeit 3"", ""PLA-X polypeptide"", ""surfeit locus protein 3"", ""60S ribosomal protein L7a"", "";"", ""thyroid hormone receptor uncoupling protein"""	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.357G>A	9.37:g.136216849G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P11518|Q5T8U4	Silent	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2	p.E119	ENST00000323345.6	37	c.357	CCDS6965.1	9																																																																																			RPL7A	-	NULL		0.572	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7A	HGNC	protein_coding	OTTHUMT00000054869.1	G	NM_000972		136216849	+1	no_errors	ENST00000323345	ensembl	human	known	70_37	silent	SNP	1.000	A
RPN1	6184	genome.wustl.edu	37	3	128341190	128341190	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:128341190G>C	ENST00000296255.3	-	9	1506	c.1458C>G	c.(1456-1458)gtC>gtG	p.V486V	RPN1_ENST00000497289.1_Silent_p.V314V	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	486					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TTCTCTTGTTGACCAGGGTCA	0.537			T	EVI1	AML																																			Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													139.0	105.0	116.0					3																	128341190		2203	4300	6503	SO:0001819	synonymous_variant	6184				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.1458C>G	3.37:g.128341190G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5Z0|D3DNB6|Q68DT1	Silent	SNP	pfam_Ribophorin_I	p.V486	ENST00000296255.3	37	c.1458	CCDS3051.1	3																																																																																			RPN1	-	NULL		0.537	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	HGNC	protein_coding	OTTHUMT00000356934.2	G	NM_002950		128341190	-1	no_errors	ENST00000296255	ensembl	human	known	70_37	silent	SNP	1.000	C
RPN1	6184	genome.wustl.edu	37	3	128345602	128345602	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:128345602C>T	ENST00000296255.3	-	6	1158	c.1110G>A	c.(1108-1110)gtG>gtA	p.V370V	RPN1_ENST00000497289.1_Silent_p.V198V|RPN1_ENST00000490166.1_5'UTR	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	370					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		GGATGATCTTCACAGTCAGAG	0.468			T	EVI1	AML																																			Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													229.0	174.0	193.0					3																	128345602		2203	4300	6503	SO:0001819	synonymous_variant	6184				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.1110G>A	3.37:g.128345602C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5Z0|D3DNB6|Q68DT1	Silent	SNP	pfam_Ribophorin_I	p.V370	ENST00000296255.3	37	c.1110	CCDS3051.1	3																																																																																			RPN1	-	pfam_Ribophorin_I		0.468	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	HGNC	protein_coding	OTTHUMT00000356934.2	C	NM_002950		128345602	-1	no_errors	ENST00000296255	ensembl	human	known	70_37	silent	SNP	1.000	T
RPS13	6207	genome.wustl.edu	37	11	17097005	17097005	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:17097005C>G	ENST00000525634.1	-	4	462	c.317G>C	c.(316-318)aGa>aCa	p.R106T	RPS13_ENST00000526895.1_5'UTR|PIK3C2A_ENST00000531428.1_5'Flank|SNORD14B_ENST00000364533.1_RNA|SNORD14A_ENST00000606526.1_RNA|AC116533.1_ENST00000408395.1_RNA|RPS13_ENST00000228140.2_Missense_Mutation_p.R106T			P62277	RS13_HUMAN	ribosomal protein S13	106					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						GCTTACCTTTCTGTTCCTCTC	0.363																																																	0													77.0	73.0	74.0					11																	17097005		2200	4293	6493	SO:0001583	missense	6207			X79239	CCDS7823.1	11p	2011-04-05			ENSG00000110700	ENSG00000110700		"""S ribosomal proteins"""	10386	protein-coding gene	gene with protein product	"""40S ribosomal protein S13"""	180476				8332508, 9582194	Standard	NM_001017		Approved	S13	uc001mmp.3	P62277	OTTHUMG00000165988	ENST00000525634.1:c.317G>C	11.37:g.17097005C>G	ENSP00000435777:p.Arg106Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R549|P19116|Q02546|Q29200|Q498Y0	Missense_Mutation	SNP	pfam_Ribosomal_S13/S15_N,pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd	p.R106T	ENST00000525634.1	37	c.317	CCDS7823.1	11	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906653	0.92107	.	.	ENSG00000110700	ENST00000228140;ENST00000525634	.	.	.	5.76	5.76	0.90799	S15/NS1, RNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	M	0.81614	2.55	0.80722	D	1	P	0.45569	0.861	P	0.48598	0.583	T	0.76602	-0.2899	9	0.56958	D	0.05	-4.4083	19.5547	0.95338	0.0:1.0:0.0:0.0	.	106	P62277	RS13_HUMAN	T	106	.	ENSP00000228140:R106T	R	-	2	0	RPS13	17053581	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.794000	0.85869	2.726000	0.93360	0.655000	0.94253	AGA	RPS13	-	pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd		0.363	RPS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS13	HGNC	protein_coding	OTTHUMT00000387320.2	C	NM_001017		17097005	-1	no_errors	ENST00000525634	ensembl	human	known	70_37	missense	SNP	1.000	G
RPS19	6223	genome.wustl.edu	37	19	42365220	42365220	+	Silent	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:42365220C>A	ENST00000598742.1	+	3	483	c.111C>A	c.(109-111)gtC>gtA	p.V37V	RPS19_ENST00000221975.2_5'UTR|RPS19_ENST00000593863.1_Silent_p.V37V	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	37					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|monocyte chemotaxis (GO:0002548)|mRNA metabolic process (GO:0016071)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleolus organization (GO:0007000)|positive regulation of cellular component movement (GO:0051272)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|protein tetramerization (GO:0051262)|response to extracellular stimulus (GO:0009991)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						TGGATACCGTCAAGCTGGCCA	0.532									Diamond-Blackfan Anemia																																								0													96.0	84.0	88.0					19																	42365220		2203	4300	6503	SO:0001819	synonymous_variant	6223	Familial Cancer Database	DBA, Congenital Hypoplastic Anemia, Blackfan-Diamond Anemia, incl.: Aase syndrome	BC000023	CCDS12588.1	19q13.2	2011-04-05				ENSG00000105372		"""S ribosomal proteins"""	10402	protein-coding gene	gene with protein product	"""Diamond-Blackfan anemia"""	603474				9582194	Standard	NM_001022		Approved	DBA, S19	uc002ort.3	P39019		ENST00000598742.1:c.111C>A	19.37:g.42365220C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ribosomal_S19e	p.V37	ENST00000598742.1	37	c.111	CCDS12588.1	19																																																																																			RPS19	-	pfam_Ribosomal_S19e		0.532	RPS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS19	HGNC	protein_coding	OTTHUMT00000463049.1	C	NM_001022		42365220	+1	no_errors	ENST00000593863	ensembl	human	known	70_37	silent	SNP	1.000	A
RPS19BP1	91582	genome.wustl.edu	37	22	39928446	39928446	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:39928446C>G	ENST00000334678.3	-	2	251	c.135G>C	c.(133-135)caG>caC	p.Q45H		NM_194326.2	NP_919307.1	Q86WX3	AROS_HUMAN	ribosomal protein S19 binding protein 1	45						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)	3	Melanoma(58;0.04)					TCCGCAGTTTCTGGGCCTGAA	0.657																																																	0													72.0	65.0	67.0					22																	39928446		2203	4300	6503	SO:0001583	missense	91582			BC037573	CCDS13997.1	22q13.1	2006-03-17			ENSG00000187051	ENSG00000187051			28749	protein-coding gene	gene with protein product		610225				16289379	Standard	NM_194326		Approved	MGC52010, FLJ21770	uc003ayb.3	Q86WX3	OTTHUMG00000151101	ENST00000334678.3:c.135G>C	22.37:g.39928446C>G	ENSP00000333948:p.Gln45His	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QY96|Q5JZA1	Missense_Mutation	SNP	prints_Active_regulator_of_SIRT1	p.Q45H	ENST00000334678.3	37	c.135	CCDS13997.1	22	.	.	.	.	.	.	.	.	.	.	C	10.54	1.380111	0.24944	.	.	ENSG00000187051	ENST00000334678	T	0.46819	0.86	4.72	3.69	0.42338	.	0.669252	0.14459	N	0.318313	T	0.40595	0.1123	L	0.47716	1.5	0.27574	N	0.949805	P	0.39624	0.681	B	0.38755	0.281	T	0.25502	-1.0130	10	0.41790	T	0.15	-6.5634	9.528	0.39175	0.0:0.8987:0.0:0.1013	.	45	Q86WX3	AROS_HUMAN	H	45	ENSP00000333948:Q45H	ENSP00000333948:Q45H	Q	-	3	2	RPS19BP1	38258392	0.998000	0.40836	0.803000	0.32268	0.099000	0.18886	0.642000	0.24735	1.291000	0.44653	-0.258000	0.10820	CAG	RPS19BP1	-	NULL		0.657	RPS19BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS19BP1	HGNC	protein_coding	OTTHUMT00000321307.1	C	NM_194326		39928446	-1	no_errors	ENST00000334678	ensembl	human	known	70_37	missense	SNP	0.944	G
RPS2	6187	genome.wustl.edu	37	16	2012214	2012214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2012214C>T	ENST00000343262.4	-	7	823	c.767G>A	c.(766-768)tGg>tAg	p.W256*	RPS2_ENST00000529806.1_3'UTR|RPS2_ENST00000530225.1_3'UTR|RPS2_ENST00000526522.1_Nonsense_Mutation_p.W198*|SNORA64_ENST00000384674.1_RNA|SNHG9_ENST00000459373.1_lincRNA|SNORA10_ENST00000384084.1_RNA	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	256					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of transferase activity (GO:0051347)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						AGTCTCCTTCCAGAGGTCGGG	0.547																																																	0													57.0	68.0	65.0					16																	2012214		2199	4298	6497	SO:0001587	stop_gained	6187			AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"""S ribosomal proteins"""	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.767G>A	16.37:g.2012214C>T	ENSP00000341885:p.Trp256*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5G0|D3DU82|Q3MIB1	Nonsense_Mutation	SNP	pfam_Ribosomal_S5_N,pfam_Ribosomal_S5_C,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N,tigrfam_Ribosomal_S5_euk/arc	p.W256*	ENST00000343262.4	37	c.767	CCDS10452.1	16	.	.	.	.	.	.	.	.	.	.	c	20.3	3.974830	0.74360	.	.	ENSG00000140988	ENST00000526522;ENST00000533186;ENST00000343262	.	.	.	4.87	4.87	0.63330	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1005	0.86648	0.0:1.0:0.0:0.0	.	.	.	.	X	198;158;256	.	ENSP00000341885:W256X	W	-	2	0	RPS2	1952215	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	7.712000	0.84684	2.280000	0.76307	0.603000	0.83216	TGG	RPS2	-	pfam_Ribosomal_S5_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Ribosomal_S5_euk/arc		0.547	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS2	HGNC	protein_coding	OTTHUMT00000250613.2	C	NM_002952		2012214	-1	no_errors	ENST00000343262	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RPS6KB1	6198	genome.wustl.edu	37	17	58011881	58011881	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:58011881G>A	ENST00000225577.4	+	9	887	c.866G>A	c.(865-867)gGa>gAa	p.G289E	RPS6KB1_ENST00000406116.3_Missense_Mutation_p.G289E|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.G236E|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.G266E	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	289	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> E (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.G289E(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ATGCTGACTGGAGCAGTAGGT	0.463																																																	1	Substitution - Missense(1)	large_intestine(1)											108.0	90.0	96.0					17																	58011881		2203	4300	6503	SO:0001583	missense	6198			M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.866G>A	17.37:g.58011881G>A	ENSP00000225577:p.Gly289Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom	p.G289E	ENST00000225577.4	37	c.866	CCDS11621.1	17	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882765	0.91740	.	.	ENSG00000108443	ENST00000443572;ENST00000406116;ENST00000225577;ENST00000393021	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76364	0.3977	H	0.95437	3.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83966	0.0324	10	0.87932	D	0	.	19.2439	0.93895	0.0:0.0:1.0:0.0	.	266;289;289	F6UYM1;Q7Z721;P23443	.;.;KS6B1_HUMAN	E	266;289;289;236	ENSP00000441993:G266E;ENSP00000384335:G289E;ENSP00000225577:G289E;ENSP00000376744:G236E	ENSP00000225577:G289E	G	+	2	0	RPS6KB1	55366663	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.406000	0.97321	2.614000	0.88457	0.650000	0.86243	GGA	RPS6KB1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom		0.463	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KB1	HGNC	protein_coding	OTTHUMT00000319324.1	G	NM_003161		58011881	+1	no_errors	ENST00000225577	ensembl	human	known	70_37	missense	SNP	1.000	A
RPSAP58	388524	genome.wustl.edu	37	19	24010639	24010639	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:24010639G>A	ENST00000496398.1	+	4	1099	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	RP11-255H23.4_ENST00000599944.1_lincRNA|RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.E226K					ribosomal protein SA pseudogene 58											endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						GACCAAGGAGGAATTTCAGGG	0.517																																																	0																																										SO:0001583	missense	388524					19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.676G>A	19.37:g.24010639G>A	ENSP00000417240:p.Glu226Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc	p.E226K	ENST00000496398.1	37	c.676		19	.	.	.	.	.	.	.	.	.	.	.	9.979	1.227485	0.22542	.	.	ENSG00000205246	ENST00000496398;ENST00000354585	T;T	0.48522	0.81;0.81	2.75	2.75	0.32379	.	0.000000	0.64402	U	0.000001	T	0.60586	0.2280	.	.	.	0.51012	D	0.999904	D	0.89917	1.0	D	0.87578	0.998	T	0.57613	-0.7781	9	0.25106	T	0.35	.	11.3955	0.49838	0.0:0.0:1.0:0.0	.	226	A6NE09	.	K	226	ENSP00000417240:E226K;ENSP00000346598:E226K	ENSP00000346598:E226K	E	+	1	0	RPSAP58	23802479	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	6.243000	0.72384	1.596000	0.50062	0.627000	0.83407	GAA	RPSAP58	-	NULL		0.517	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	RPSAP58	HGNC	protein_coding	OTTHUMT00000350238.1	G	NR_003662		24010639	+1	no_errors	ENST00000354585	ensembl	human	known	70_37	missense	SNP	1.000	A
RPTOR	57521	genome.wustl.edu	37	17	78866583	78866583	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:78866583C>T	ENST00000306801.3	+	19	2518	c.2156C>T	c.(2155-2157)tCt>tTt	p.S719F	RPTOR_ENST00000544334.2_Missense_Mutation_p.S561F|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	719					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AGACTTCGTTCTGTGAGCTCC	0.522																																																	0													127.0	131.0	130.0					17																	78866583		2203	4300	6503	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2156C>T	17.37:g.78866583C>T	ENSP00000307272:p.Ser719Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.S719F	ENST00000306801.3	37	c.2156	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723697	0.48728	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.50001	0.82;0.76	4.66	3.67	0.42095	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.49712	0.1573	N	0.22421	0.69	0.80722	D	1	D;P	0.64830	0.994;0.952	D;P	0.77004	0.989;0.598	T	0.34079	-0.9843	10	0.09590	T	0.72	.	13.9039	0.63821	0.1538:0.8462:0.0:0.0	.	561;719	F5H7J5;Q8N122	.;RPTOR_HUMAN	F	719;561	ENSP00000307272:S719F;ENSP00000442479:S561F	ENSP00000307272:S719F	S	+	2	0	RPTOR	76481178	1.000000	0.71417	0.012000	0.15200	0.127000	0.20565	7.321000	0.79088	0.920000	0.36970	0.655000	0.94253	TCT	RPTOR	-	superfamily_ARM-type_fold		0.522	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	C	NM_020761		78866583	+1	no_errors	ENST00000306801	ensembl	human	known	70_37	missense	SNP	0.992	T
RPUSD3	285367	genome.wustl.edu	37	3	9882239	9882239	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:9882239C>G	ENST00000383820.5	-	6	578	c.577G>C	c.(577-579)Gaa>Caa	p.E193Q	RPUSD3_ENST00000424438.1_Missense_Mutation_p.E161Q|RPUSD3_ENST00000485705.1_5'Flank|RPUSD3_ENST00000433535.2_Missense_Mutation_p.E178Q|TTLL3_ENST00000455274.1_Intron	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	193					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					TCAATGTGTTCCAGTTTCAGG	0.552																																																	0													207.0	207.0	207.0					3																	9882239		2203	4300	6503	SO:0001583	missense	285367			BC032135	CCDS2586.2, CCDS46744.1	3p25.3	2013-02-11			ENSG00000156990	ENSG00000156990		"""RNA pseudouridylate synthase domain containing"""	28437	protein-coding gene	gene with protein product						12477932	Standard	NM_173659		Approved	MGC29784	uc011atk.2	Q6P087	OTTHUMG00000128441	ENST00000383820.5:c.577G>C	3.37:g.9882239C>G	ENSP00000373331:p.Glu193Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DS39|Q6P6A9|Q8N1B2|Q8NAV3	Missense_Mutation	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom	p.E193Q	ENST00000383820.5	37	c.577	CCDS2586.2	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.76|10.76	1.441083|1.441083	0.25900|0.25900	.|.	.|.	ENSG00000156990|ENSG00000156990	ENST00000433535;ENST00000383820;ENST00000424438;ENST00000418713|ENST00000423108;ENST00000427174	T;T;T;T|.	0.13901|.	2.55;2.55;2.55;2.55|.	5.33|5.33	2.39|2.39	0.29439|0.29439	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);|.	0.205314|.	0.51477|.	N|.	0.000092|.	T|T	0.44286|0.44286	0.1286|0.1286	L|L	0.58428|0.58428	1.81|1.81	0.09310|0.09310	N|N	0.999997|0.999997	D;B;B|.	0.53312|.	0.959;0.214;0.137|.	P;B;B|.	0.53035|.	0.716;0.167;0.098|.	T|T	0.29274|0.29274	-1.0017|-1.0017	10|5	0.48119|.	T|.	0.1|.	.|.	8.6777|8.6777	0.34189|0.34189	0.0:0.4673:0.4499:0.0828|0.0:0.4673:0.4499:0.0828	.|.	185;178;193|.	B7Z3P5;Q6P087-2;Q6P087|.	.;.;RUSD3_HUMAN|.	Q|C	178;193;161;189|21;183	ENSP00000398921:E178Q;ENSP00000373331:E193Q;ENSP00000408693:E161Q;ENSP00000415616:E189Q|.	ENSP00000373331:E193Q|.	E|W	-|-	1|3	0|0	RPUSD3|RPUSD3	9857239|9857239	0.992000|0.992000	0.36948|0.36948	0.036000|0.036000	0.18154|0.18154	0.555000|0.555000	0.35460|0.35460	0.829000|0.829000	0.27449|0.27449	0.180000|0.180000	0.19960|0.19960	0.655000|0.655000	0.94253|0.94253	GAA|TGG	RPUSD3	-	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom		0.552	RPUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPUSD3	HGNC	protein_coding	OTTHUMT00000250238.1	C	NM_173659		9882239	-1	no_errors	ENST00000383820	ensembl	human	known	70_37	missense	SNP	0.264	G
RREB1	6239	genome.wustl.edu	37	6	7189489	7189489	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:7189489C>G	ENST00000349384.6	+	6	673	c.359C>G	c.(358-360)tCt>tGt	p.S120C	Y_RNA_ENST00000364613.1_RNA|RREB1_ENST00000379933.3_Missense_Mutation_p.S120C|RREB1_ENST00000334984.6_Missense_Mutation_p.S120C|RREB1_ENST00000379938.2_Missense_Mutation_p.S120C	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	120					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGGTGCACTCTGGCGAGAGG	0.597																																																	0													70.0	52.0	58.0					6																	7189489		2203	4300	6503	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.359C>G	6.37:g.7189489C>G	ENSP00000305560:p.Ser120Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S120C	ENST00000349384.6	37	c.359	CCDS34336.1	6	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622578	0.87460	.	.	ENSG00000124782	ENST00000379933;ENST00000491191;ENST00000379938;ENST00000471433;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11;2.11	5.65	5.65	0.86999	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000022	T	0.45677	0.1354	M	0.80028	2.48	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.48502	-0.9030	10	0.87932	D	0	-28.8691	19.7284	0.96174	0.0:1.0:0.0:0.0	.	120;120;120	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	C	120	ENSP00000369265:S120C;ENSP00000420519:S120C;ENSP00000369270:S120C;ENSP00000420299:S120C;ENSP00000305560:S120C;ENSP00000335574:S120C;ENSP00000419511:S120C	ENSP00000335574:S120C	S	+	2	0	RREB1	7134488	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	5.766000	0.68843	2.668000	0.90789	0.591000	0.81541	TCT	RREB1	-	pfscan_Znf_C2H2		0.597	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	C			7189489	+1	no_errors	ENST00000379938	ensembl	human	known	70_37	missense	SNP	1.000	G
RRM1	6240	genome.wustl.edu	37	11	4159525	4159525	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:4159525C>G	ENST00000300738.5	+	19	2495	c.2291C>G	c.(2290-2292)tCa>tGa	p.S764*	RRM1-AS1_ENST00000529323.1_RNA|RRM1_ENST00000423050.2_Nonsense_Mutation_p.S667*|RRM1_ENST00000534285.1_Nonsense_Mutation_p.S542*|RRM1_ENST00000537197.1_Nonsense_Mutation_p.S426*	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	764					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	GAAAAGGTATCAAAAGAGGAA	0.418																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)												0													85.0	84.0	85.0					11																	4159525		2201	4298	6499	SO:0001587	stop_gained	6240			X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.2291C>G	11.37:g.4159525C>G	ENSP00000300738:p.Ser764*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UNN2	Nonsense_Mutation	SNP	pfam_RNR_lg_C,pfam_RNR_lsu_N,pfam_ATP-cone,superfamily_RNR_R1-su_N,pfscan_ATP-cone,prints_RNR_lg_C,tigrfam_NrdE_NrdA	p.S764*	ENST00000300738.5	37	c.2291	CCDS7750.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.188250	0.97362	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	.	.	.	5.55	1.4	0.22301	.	0.715195	0.13203	N	0.405788	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	0.0833	8.024	0.30425	0.0:0.6678:0.127:0.2052	.	.	.	.	X	764;667;677;542;542;426	.	ENSP00000300738:S764X	S	+	2	0	RRM1	4116101	0.002000	0.14202	0.352000	0.25734	0.246000	0.25737	0.632000	0.24583	0.411000	0.25702	0.655000	0.94253	TCA	RRM1	-	NULL		0.418	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM1	HGNC	protein_coding	OTTHUMT00000257197.1	C	NM_001033		4159525	+1	no_errors	ENST00000300738	ensembl	human	known	70_37	nonsense	SNP	0.103	G
RRP12	23223	genome.wustl.edu	37	10	99125952	99125952	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:99125952G>C	ENST00000370992.4	-	29	3541	c.3430C>G	c.(3430-3432)Cac>Gac	p.H1144D	RRP12_ENST00000536831.1_Missense_Mutation_p.H862D|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.H1083D|RRP12_ENST00000315563.6_Missense_Mutation_p.H1044D	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1144						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TTGAAGCCGTGGTCCTTCTTC	0.622																																																	0													122.0	97.0	106.0					10																	99125952		2203	4300	6503	SO:0001583	missense	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3430C>G	10.37:g.99125952G>C	ENSP00000360031:p.His1144Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold	p.H1144D	ENST00000370992.4	37	c.3430	CCDS7457.1	10	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220436	0.79464	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.28255	1.62;1.62;1.62;1.63	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	L	0.42581	1.335	0.80722	D	1	D;B;D;P	0.67145	0.996;0.24;0.982;0.899	P;B;P;B	0.57846	0.743;0.123;0.828;0.367	T	0.07520	-1.0768	10	0.07325	T	0.83	-12.5615	12.5015	0.55957	0.0:0.0:0.8333:0.1667	.	1083;1044;862;1144	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	D	1144;1044;1083;862	ENSP00000360031:H1144D;ENSP00000324315:H1044D;ENSP00000414863:H1083D;ENSP00000446184:H862D	ENSP00000324315:H1044D	H	-	1	0	RRP12	99115942	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	7.328000	0.79160	2.422000	0.82143	0.555000	0.69702	CAC	RRP12	-	NULL		0.622	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4	G	NM_015179		99125952	-1	no_errors	ENST00000370992	ensembl	human	known	70_37	missense	SNP	1.000	C
SERHL2	253190	genome.wustl.edu	37	22	42970720	42970720	+	IGR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:42970720C>G	ENST00000327678.5	+	0	1374				RRP7B_ENST00000357802.2_RNA	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2								hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CTCCAGCCATCCACTGCGGCT	0.647																																																	0																																										SO:0001628	intergenic_variant	91695				CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892		22.37:g.42970720C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JZ95|Q9UH21	RNA	SNP	-	NULL	ENST00000327678.5	37	NULL	CCDS14037.1	22																																																																																			RRP7B	-	-		0.647	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP7B	HGNC	protein_coding	OTTHUMT00000320454.1	C	NM_014509		42970720	-1	no_errors	ENST00000357802	ensembl	human	known	70_37	rna	SNP	0.002	G
RS1	6247	genome.wustl.edu	37	X	18660271	18660271	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:18660271G>C	ENST00000379984.3	-	6	568	c.528C>G	c.(526-528)ttC>ttG	p.F176L	CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	176	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					AGTTGCCATAGAAGACCTAGA	0.562																																																	0													77.0	67.0	71.0					X																	18660271		2203	4300	6503	SO:0001583	missense	6247			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.528C>G	X.37:g.18660271G>C	ENSP00000369320:p.Phe176Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0QD39	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.F176L	ENST00000379984.3	37	c.528	CCDS14187.1	X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963130	0.74016	.	.	ENSG00000102104	ENST00000379984	D	0.99186	-5.53	5.64	3.87	0.44632	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98943	0.9641	M	0.74546	2.27	0.53005	D	0.999969	D	0.76494	0.999	D	0.83275	0.996	D	0.99353	1.0915	10	0.62326	D	0.03	.	8.7153	0.34408	0.2341:0.0:0.7659:0.0	.	176	O15537	XLRS1_HUMAN	L	176	ENSP00000369320:F176L	ENSP00000369320:F176L	F	-	3	2	RS1	18570192	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.523000	0.45580	1.149000	0.42402	-0.176000	0.13171	TTC	RS1	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.562	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RS1	HGNC	protein_coding	OTTHUMT00000055949.1	G			18660271	-1	no_errors	ENST00000379984	ensembl	human	known	70_37	missense	SNP	1.000	C
RSG1	79363	genome.wustl.edu	37	1	16558560	16558560	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16558560C>G	ENST00000375599.3	-	5	1179	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	C1orf134_ENST00000375605.2_5'Flank	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	254	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						GGAGCACTCTCTGGGGGGTTG	0.637																																																	0													63.0	68.0	66.0					1																	16558560		2203	4300	6503	SO:0001583	missense	79363			BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"""Rem/Rab-Similar GTPase 1"""		"""chromosome 1 open reading frame 89"""	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.760G>C	1.37:g.16558560C>G	ENSP00000364749:p.Glu254Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TEV7	Missense_Mutation	SNP	pfam_MIRO-like,pfam_Small_GTPase,prints_Small_GTPase	p.E254Q	ENST00000375599.3	37	c.760	CCDS171.1	1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778653	0.31502	.	.	ENSG00000132881	ENST00000375599	T	0.56611	0.45	5.47	4.56	0.56223	.	0.292350	0.32987	N	0.005417	T	0.27697	0.0681	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.14200	-1.0481	10	0.31617	T	0.26	-3.7964	10.1968	0.43060	0.0:0.9088:0.0:0.0912	.	254	Q9BU20	RSG1_HUMAN	Q	254	ENSP00000364749:E254Q	ENSP00000364749:E254Q	E	-	1	0	RSG1	16431147	0.717000	0.27966	0.165000	0.22776	0.169000	0.22640	3.150000	0.50662	1.305000	0.44909	-0.136000	0.14681	GAG	RSG1	-	NULL		0.637	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSG1	HGNC	protein_coding	OTTHUMT00000006279.2	C	NM_030907		16558560	-1	no_errors	ENST00000375599	ensembl	human	known	70_37	missense	SNP	0.140	G
RSPO2	340419	genome.wustl.edu	37	8	108913363	108913363	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:108913363C>T	ENST00000276659.5	-	6	1292	c.672G>A	c.(670-672)ctG>ctA	p.L224L	RSPO2_ENST00000517781.1_Silent_p.L160L|RSPO2_ENST00000517939.1_Silent_p.L157L|RSPO2_ENST00000378439.2_Silent_p.L160L	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	224					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCCTTTCTATCAGcttccttt	0.423																																																	0													130.0	123.0	125.0					8																	108913363		2203	4300	6503	SO:0001819	synonymous_variant	340419			AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.672G>A	8.37:g.108913363C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVP0|Q4G0U4|Q8N6X6	Silent	SNP	superfamily_Growth_fac_rcpt,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L224	ENST00000276659.5	37	c.672	CCDS6307.1	8																																																																																			RSPO2	-	NULL		0.423	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO2	HGNC	protein_coding	OTTHUMT00000380830.1	C	NM_178565		108913363	-1	no_errors	ENST00000276659	ensembl	human	known	70_37	silent	SNP	1.000	T
RTBDN	83546	genome.wustl.edu	37	19	12936535	12936535	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:12936535G>A	ENST00000458671.2	-	6	827	c.675C>T	c.(673-675)agC>agT	p.S225S	RTBDN_ENST00000592204.1_Silent_p.S235S|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000589272.1_3'UTR|RTBDN_ENST00000393233.2_3'UTR|RTBDN_ENST00000322912.5_Silent_p.S257S	NM_001080997.2	NP_001074466.1	Q9BSG5	RTBDN_HUMAN	retbindin	225						extracellular region (GO:0005576)				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						GGCCGCTGCCGCTTCCACTGC	0.736											OREG0025275	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													6.0	6.0	6.0					19																	12936535		2140	4162	6302	SO:0001819	synonymous_variant	83546			AY028917	CCDS12283.1, CCDS45994.1, CCDS59355.1, CCDS59356.1	19p13	2006-03-22				ENSG00000132026			30310	protein-coding gene	gene with protein product		609553				12107411	Standard	NM_001080997		Approved	FLJ36353	uc002mvj.4	Q9BSG5		ENST00000458671.2:c.675C>T	19.37:g.12936535G>A		Somatic	683	WXS	Illumina HiSeq	Phase_IV	F1T0I8|Q9BWT5	Silent	SNP	pfam_Folate_rcpt-like	p.S257	ENST00000458671.2	37	c.771	CCDS45994.1	19																																																																																			RTBDN	-	NULL		0.736	RTBDN-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RTBDN	HGNC	protein_coding	OTTHUMT00000451513.1	G	NM_031429		12936535	-1	no_errors	ENST00000322912	ensembl	human	known	70_37	silent	SNP	1.000	A
RTN3	10313	genome.wustl.edu	37	11	63487457	63487457	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:63487457G>C	ENST00000377819.5	+	3	1637	c.1483G>C	c.(1483-1485)Gat>Cat	p.D495H	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.D476H|RTN3_ENST00000540798.1_Missense_Mutation_p.D383H|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	495					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CACAGAAGCTGATAGTTCTGG	0.433																																																	0													59.0	61.0	60.0					11																	63487457		2201	4298	6499	SO:0001583	missense	10313			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1483G>C	11.37:g.63487457G>C	ENSP00000367050:p.Asp495His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.D495H	ENST00000377819.5	37	c.1483	CCDS58141.1	11	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683230	0.68157	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.18174	2.23;2.23;2.23	6.07	6.07	0.98685	.	0.106709	0.41605	D	0.000843	T	0.32675	0.0837	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.00872	-1.1532	10	0.62326	D	0.03	-21.2984	16.1594	0.81686	0.0:0.0:1.0:0.0	.	383;495;476	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	H	495;476;383	ENSP00000367050:D495H;ENSP00000344106:D476H;ENSP00000442733:D383H	ENSP00000344106:D476H	D	+	1	0	RTN3	63244033	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.776000	0.68924	2.885000	0.99019	0.655000	0.94253	GAT	RTN3	-	NULL		0.433	RTN3-002	KNOWN	basic|CCDS	protein_coding	RTN3	HGNC	protein_coding	OTTHUMT00000397846.1	G	NM_006054		63487457	+1	no_errors	ENST00000377819	ensembl	human	known	70_37	missense	SNP	1.000	C
RTN4RL1	146760	genome.wustl.edu	37	17	1840862	1840862	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:1840862G>C	ENST00000331238.6	-	2	733	c.254C>G	c.(253-255)tCg>tGg	p.S85W		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GATGTTGTTCGAGTAGATCCA	0.652																																					GBM(68;949 1139 14865 32798 38342)												0													85.0	96.0	92.0					17																	1840862		2191	4286	6477	SO:0001583	missense	146760			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.254C>G	17.37:g.1840862G>C	ENSP00000330631:p.Ser85Trp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S85W	ENST00000331238.6	37	c.254	CCDS45569.1	17	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525657	0.64860	.	.	ENSG00000185924	ENST00000331238	T	0.02682	4.2	5.49	5.49	0.81192	.	0.000000	0.38720	N	0.001596	T	0.15912	0.0383	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00071	-1.2131	10	0.56958	D	0.05	.	19.4381	0.94806	0.0:0.0:1.0:0.0	.	85	Q86UN2	R4RL1_HUMAN	W	85	ENSP00000330631:S85W	ENSP00000330631:S85W	S	-	2	0	RTN4RL1	1787612	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.062000	0.89475	2.606000	0.88127	0.650000	0.86243	TCG	RTN4RL1	-	smart_Leu-rich_rpt_typical-subtyp		0.652	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4RL1	HGNC	protein_coding	OTTHUMT00000450155.2	G	NM_178568		1840862	-1	no_errors	ENST00000331238	ensembl	human	known	70_37	missense	SNP	1.000	C
RTTN	25914	genome.wustl.edu	37	18	67864892	67864892	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:67864892C>T	ENST00000255674.6	-	6	947	c.661G>A	c.(661-663)Gag>Aag	p.E221K	RTTN_ENST00000437017.1_Missense_Mutation_p.E221K|RTTN_ENST00000454359.1_Missense_Mutation_p.E221K	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	221					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGGAAAATCTCAGCAGGAAAA	0.343																																																	0													80.0	77.0	78.0					18																	67864892		1806	4082	5888	SO:0001583	missense	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.661G>A	18.37:g.67864892C>T	ENSP00000255674:p.Glu221Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E221K	ENST00000255674.6	37	c.661	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193887	0.58017	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.65549	3.5;-0.16;1.42	4.6	4.6	0.57074	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.64402	D	0.000004	T	0.78672	0.4320	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.81965	-0.0691	10	0.72032	D	0.01	.	17.4265	0.87527	0.0:1.0:0.0:0.0	.	221;221	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	K	221	ENSP00000255674:E221K;ENSP00000402352:E221K;ENSP00000399520:E221K	ENSP00000255674:E221K	E	-	1	0	RTTN	66015872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.715000	0.84713	2.094000	0.63399	0.655000	0.94253	GAG	RTTN	-	superfamily_ARM-type_fold		0.343	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	C	NM_173630		67864892	-1	no_errors	ENST00000255674	ensembl	human	known	70_37	missense	SNP	1.000	T
RUSC1	23623	genome.wustl.edu	37	1	155296726	155296726	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155296726C>G	ENST00000368352.5	+	8	2368	c.2217C>G	c.(2215-2217)gtC>gtG	p.V739V	RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368349.4_Silent_p.V270V|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Silent_p.V633V|RUSC1_ENST00000292254.4_Silent_p.V270V|RUSC1_ENST00000368347.4_Silent_p.V329V|RUSC1-AS1_ENST00000443642.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	739					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCTCCCGGGTCTATGCCTCTG	0.627																																																	0													36.0	42.0	40.0					1																	155296726		2203	4300	6503	SO:0001819	synonymous_variant	23623			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2217C>G	1.37:g.155296726C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.V739	ENST00000368352.5	37	c.2217	CCDS41410.1	1																																																																																			RUSC1	-	NULL		0.627	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1	HGNC	protein_coding	OTTHUMT00000039071.1	C			155296726	+1	no_errors	ENST00000368352	ensembl	human	known	70_37	silent	SNP	1.000	G
RYR1	6261	genome.wustl.edu	37	19	39055628	39055628	+	Silent	SNP	C	C	T	rs118192128		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:39055628C>T	ENST00000359596.3	+	91	12654	c.12654C>T	c.(12652-12654)ttC>ttT	p.F4218F	RYR1_ENST00000355481.4_Silent_p.F4213F|RYR1_ENST00000360985.3_Silent_p.F4213F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4218					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.F4218F(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGTTCATCTTCGACGTGGTGA	0.632																																																	1	Substitution - coding silent(1)	large_intestine(1)											28.0	22.0	24.0					19																	39055628		2201	4296	6497	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12654C>T	19.37:g.39055628C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.F4218	ENST00000359596.3	37	c.12654	CCDS33011.1	19																																																																																			RYR1	-	NULL		0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			39055628	+1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	1.000	T
RYR2	6262	genome.wustl.edu	37	1	237617847	237617847	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:237617847G>A	ENST00000366574.2	+	15	1766	c.1449G>A	c.(1447-1449)aaG>aaA	p.K483K	RYR2_ENST00000542537.1_Silent_p.K467K|RYR2_ENST00000360064.6_Silent_p.K481K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	483					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGCCCTGAAGAATCGGCAAA	0.433																																																	0													67.0	67.0	67.0					1																	237617847		1877	4108	5985	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1449G>A	1.37:g.237617847G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.K481	ENST00000366574.2	37	c.1443	CCDS55691.1	1																																																																																			RYR2	-	pfam_Ca-rel_channel		0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237617847	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	silent	SNP	1.000	A
S100PBP	64766	genome.wustl.edu	37	1	33293677	33293677	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:33293677G>C	ENST00000373475.5	+	4	1169	c.915G>C	c.(913-915)aaG>aaC	p.K305N	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.K305N|S100PBP_ENST00000398243.3_Missense_Mutation_p.K304N	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TACAAACTAAGACCAGGTAAT	0.363																																																	0													92.0	95.0	94.0					1																	33293677		2203	4300	6503	SO:0001583	missense	64766			BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.915G>C	1.37:g.33293677G>C	ENSP00000362574:p.Lys305Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.K305N	ENST00000373475.5	37	c.915	CCDS30666.1	1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877355	0.33162	.	.	ENSG00000116497	ENST00000373476;ENST00000373475;ENST00000531123;ENST00000398243;ENST00000356689	.	.	.	5.25	2.87	0.33458	.	0.199173	0.40554	N	0.001064	T	0.51363	0.1670	L	0.59436	1.845	0.23704	N	0.997064	D;P	0.63046	0.992;0.944	P;P	0.60541	0.876;0.714	T	0.41448	-0.9508	9	0.87932	D	0	-6.4804	6.9282	0.24426	0.8052:0.0:0.1948:0.0	.	304;305	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	N	305;305;304;304;305	.	ENSP00000349117:K305N	K	+	3	2	S100PBP	33066264	0.954000	0.32549	0.621000	0.29145	0.217000	0.24651	2.145000	0.42207	0.368000	0.24481	-0.302000	0.09304	AAG	S100PBP	-	NULL		0.363	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100PBP	HGNC	protein_coding	OTTHUMT00000011266.1	G	NM_022753		33293677	+1	no_errors	ENST00000373475	ensembl	human	known	70_37	missense	SNP	0.833	C
RYR2	6262	genome.wustl.edu	37	1	237947564	237947564	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:237947564G>A	ENST00000366574.2	+	90	12869	c.12552G>A	c.(12550-12552)gaG>gaA	p.E4184E	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.E4168E|RYR2_ENST00000360064.6_Silent_p.E4190E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4184					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGAGAAAGAGAAGATGGAAC	0.507																																																	0													86.0	90.0	89.0					1																	237947564		1986	4185	6171	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12552G>A	1.37:g.237947564G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E4190	ENST00000366574.2	37	c.12570	CCDS55691.1	1																																																																																			RYR2	-	NULL		0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237947564	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	silent	SNP	1.000	A
SAFB	6294	genome.wustl.edu	37	19	5641634	5641634	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:5641634G>C	ENST00000292123.5	+	3	411	c.304G>C	c.(304-306)Gat>Cat	p.D102H	SAFB_ENST00000433404.1_5'UTR|SAFB_ENST00000592224.1_Missense_Mutation_p.D102H|SAFB_ENST00000588852.1_Missense_Mutation_p.D102H|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000454510.1_Missense_Mutation_p.D102H	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	102					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GGGTGTGGAAGATAACGGGCT	0.512																																					Colon(88;338 1345 6184 8214 20897)												0													183.0	156.0	165.0					19																	5641634		2203	4300	6503	SO:0001583	missense	6294			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.304G>C	19.37:g.5641634G>C	ENSP00000292123:p.Asp102His	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.D102H	ENST00000292123.5	37	c.304	CCDS12142.1	19	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328151	0.81690	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000292123	T;T	0.13657	2.59;2.57	5.65	4.56	0.56223	.	0.000000	0.64402	D	0.000014	T	0.36853	0.0982	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0;1.0	D;D;P;D;D;D	0.91635	0.999;0.999;0.862;0.999;0.999;0.999	T	0.10894	-1.0610	10	0.87932	D	0	-35.2471	15.3907	0.74741	0.0:0.0:0.8601:0.1399	.	102;102;102;102;102;102	F5H0H3;B7ZLP5;B7Z2H3;A0AV56;Q15424;B7ZLP6	.;.;.;.;SAFB1_HUMAN;.	H	102	ENSP00000415895:D102H;ENSP00000292123:D102H	ENSP00000292123:D102H	D	+	1	0	SAFB	5592634	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.138000	0.71717	2.670000	0.90874	0.557000	0.71058	GAT	SAFB	-	NULL		0.512	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SAFB	HGNC	protein_coding	OTTHUMT00000451641.2	G			5641634	+1	no_errors	ENST00000588852	ensembl	human	known	70_37	missense	SNP	1.000	C
SAMD12	401474	genome.wustl.edu	37	8	119391817	119391817	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:119391817G>C	ENST00000314727.4	-	4	581	c.445C>G	c.(445-447)Cta>Gta	p.L149V	AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000409003.4_Missense_Mutation_p.L149V|SAMD12_ENST00000527515.1_5'UTR	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	149										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			AGTAACTGTAGATTTCTGACT	0.493																																																	0													163.0	145.0	151.0					8																	119391817		2203	4300	6503	SO:0001583	missense	401474			AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"""Sterile alpha motif (SAM) domain containing"""	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.445C>G	8.37:g.119391817G>C	ENSP00000314173:p.Leu149Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P502	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.L149V	ENST00000314727.4	37	c.445	CCDS6325.1	8	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	32|32|32	5.106934|5.106934|5.106934	0.94292|0.94292|0.94292	.|.|.	.|.|.	ENSG00000177570|ENSG00000177570|ENSG00000177570	ENST00000526765|ENST00000409003;ENST00000524796;ENST00000314727;ENST00000526328|ENST00000453675	.|.|.	.|.|.	.|.|.	6.17|6.17|6.17	6.17|6.17|6.17	0.99709|0.99709|0.99709	.|.|.	.|0.000000|.	.|0.64402|.	.|D|.	.|0.000001|.	T|T|T	0.59280|0.59280|0.59280	0.2182|0.2182|0.2182	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.54753|0.54753|0.54753	D|D|D	0.999989|0.999989|0.999989	.|D;D|.	.|0.76494|.	.|0.993;0.999|.	.|D;D|.	.|0.78314|.	.|0.952;0.991|.	T|T|T	0.49173|0.49173|0.49173	-0.8967|-0.8967|-0.8967	5|8|5	.|.|.	.|.|.	.|.|.	-9.6047|-9.6047|-9.6047	20.8794|20.8794|20.8794	0.99867|0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|149;149|.	.|B8ZZB7;Q8N8I0|.	.|.;SAM12_HUMAN|.	M|V|C	163|149;141;149;149|135	.|.|.	.|.|.	I|L|S	-|-|-	3|1|2	3|2|0	SAMD12|SAMD12|SAMD12	119460998|119460998|119460998	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.847000|0.847000|0.847000	0.48162|0.48162|0.48162	7.649000|7.649000|7.649000	0.83500|0.83500|0.83500	2.941000|2.941000|2.941000	0.99782|0.99782|0.99782	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	ATC|CTA|TCT	SAMD12	-	NULL		0.493	SAMD12-001	KNOWN	basic|CCDS	protein_coding	SAMD12	HGNC	protein_coding	OTTHUMT00000132989.3	G	NM_207506		119391817	-1	no_errors	ENST00000314727	ensembl	human	known	70_37	missense	SNP	1.000	C
SAMSN1	64092	genome.wustl.edu	37	21	15884885	15884885	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:15884885C>G	ENST00000400566.1	-	4	370	c.289G>C	c.(289-291)Gat>Cat	p.D97H	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Missense_Mutation_p.D165H	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	97					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTCTCTCCATCTTCCTCATCC	0.423																																																	0													155.0	149.0	151.0					21																	15884885		1899	4122	6021	SO:0001583	missense	64092			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.289G>C	21.37:g.15884885C>G	ENSP00000383411:p.Asp97His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.D97H	ENST00000400566.1	37	c.289	CCDS42906.1	21	.	.	.	.	.	.	.	.	.	.	C	14.97	2.692977	0.48202	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.42131	0.98;0.98	5.72	3.85	0.44370	.	0.644296	0.16275	N	0.221603	T	0.54902	0.1887	L	0.57536	1.79	0.25032	N	0.991266	P;D	0.56746	0.911;0.977	P;P	0.60609	0.66;0.877	T	0.45948	-0.9226	10	0.62326	D	0.03	-22.9438	10.3184	0.43751	0.0:0.7884:0.1367:0.0749	.	165;97	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	H	165;97	ENSP00000285670:D165H;ENSP00000383411:D97H	ENSP00000285670:D165H	D	-	1	0	SAMSN1	14806756	0.991000	0.36638	0.995000	0.50966	0.757000	0.42996	1.807000	0.38902	0.712000	0.32039	0.650000	0.86243	GAT	SAMSN1	-	pfam_rSAM/SH3_domain-containing		0.423	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMSN1	HGNC	protein_coding	OTTHUMT00000157914.1	C			15884885	-1	no_errors	ENST00000400566	ensembl	human	known	70_37	missense	SNP	0.996	G
SARS2	54938	genome.wustl.edu	37	19	39408399	39408399	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:39408399C>G	ENST00000221431.6	-	12	1284	c.1125G>C	c.(1123-1125)caG>caC	p.Q375H	SARS2_ENST00000594171.1_Missense_Mutation_p.Q185H|SARS2_ENST00000598831.1_Missense_Mutation_p.Q23H|CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.D445H|SARS2_ENST00000600042.1_Missense_Mutation_p.Q377H|SARS2_ENST00000448145.2_Missense_Mutation_p.Q375H|SARS2_ENST00000430193.3_Missense_Mutation_p.Q375H	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	375					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AGATCTCCATCTGAAGGGACA	0.637																																																	0													76.0	68.0	71.0					19																	39408399		2203	4300	6503	SO:0001583	missense	54938			AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.1125G>C	19.37:g.39408399C>G	ENSP00000221431:p.Gln375His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1	p.Q377H	ENST00000221431.6	37	c.1131	CCDS33017.1	19	.	.	.	.	.	.	.	.	.	.	c	19.89	3.910618	0.72983	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000448145	T;T	0.67865	-0.29;-0.29	4.87	4.87	0.63330	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.83640	0.5298	M	0.92026	3.265	.	.	.	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.996;0.999	D	0.89462	0.3737	9	0.87932	D	0	.	10.4809	0.44693	0.0:0.9075:0.0:0.0925	.	375;377;375;375	E7EX87;B4DE10;B4DXB9;Q9NP81	.;.;.;SYSM_HUMAN	H	377;375;375	ENSP00000221431:Q375H;ENSP00000399330:Q375H	ENSP00000221431:Q375H	Q	-	3	2	FBXO17	44100239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.856000	0.48341	2.258000	0.74832	0.479000	0.44913	CAG	SARS2	-	pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1		0.637	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SARS2	HGNC	protein_coding	OTTHUMT00000463139.1	C	NM_017827		39408399	-1	no_errors	ENST00000600042	ensembl	human	known	70_37	missense	SNP	1.000	G
SART1	9092	genome.wustl.edu	37	11	65733421	65733421	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:65733421G>A	ENST00000312397.5	+	7	894	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	268					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTCCTTCCGAGAAGGGGAGAC	0.577																																																	0													99.0	88.0	92.0					11																	65733421		2201	4296	6497	SO:0001583	missense	9092			AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.802G>A	11.37:g.65733421G>A	ENSP00000310448:p.Glu268Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDN1|Q53GB5	Missense_Mutation	SNP	pfam_SART_1	p.E268K	ENST00000312397.5	37	c.802	CCDS31611.1	11	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647438	0.87958	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.26957	1.7	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.994	T	0.59685	-0.7408	10	0.87932	D	0	-24.9119	14.8838	0.70553	0.0:0.0:1.0:0.0	.	110;268	B4DMR4;O43290	.;SNUT1_HUMAN	K	268;110	ENSP00000310448:E268K	ENSP00000310448:E268K	E	+	1	0	SART1	65489997	1.000000	0.71417	0.826000	0.32828	0.651000	0.38670	8.436000	0.90300	2.384000	0.81235	0.313000	0.20887	GAA	SART1	-	pfam_SART_1		0.577	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART1	HGNC	protein_coding	OTTHUMT00000391409.1	G			65733421	+1	no_errors	ENST00000312397	ensembl	human	known	70_37	missense	SNP	0.997	A
SART1	9092	genome.wustl.edu	37	11	65735054	65735054	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:65735054G>C	ENST00000312397.5	+	11	1518	c.1426G>C	c.(1426-1428)Gag>Cag	p.E476Q		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	476					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CATCAGTGATGAGGGTGAGGG	0.667																																																	0													21.0	22.0	21.0					11																	65735054		2200	4295	6495	SO:0001583	missense	9092			AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.1426G>C	11.37:g.65735054G>C	ENSP00000310448:p.Glu476Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDN1|Q53GB5	Missense_Mutation	SNP	pfam_SART_1	p.E476Q	ENST00000312397.5	37	c.1426	CCDS31611.1	11	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744074	0.49151	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.22336	1.96	5.26	4.35	0.52113	.	0.148369	0.41823	D	0.000820	T	0.21307	0.0513	L	0.60455	1.87	0.42835	D	0.994039	B	0.12630	0.006	B	0.19666	0.026	T	0.06373	-1.0830	10	0.87932	D	0	-33.6787	7.5131	0.27585	0.0898:0.1671:0.7431:0.0	.	476	O43290	SNUT1_HUMAN	Q	476;318	ENSP00000310448:E476Q	ENSP00000310448:E476Q	E	+	1	0	SART1	65491630	1.000000	0.71417	0.910000	0.35882	0.967000	0.64934	5.781000	0.68964	1.233000	0.43693	0.491000	0.48974	GAG	SART1	-	pfam_SART_1		0.667	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART1	HGNC	protein_coding	OTTHUMT00000391409.1	G			65735054	+1	no_errors	ENST00000312397	ensembl	human	known	70_37	missense	SNP	0.989	C
SART3	9733	genome.wustl.edu	37	12	108923992	108923992	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:108923992C>G	ENST00000228284.3	-	15	2076	c.1842G>C	c.(1840-1842)aaG>aaC	p.K614N	SART3_ENST00000431469.2_Missense_Mutation_p.K578N	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	614	Poly-Lys.|Required for nuclear localization.				cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TGATCTTTTTCTTCTTTTTTA	0.473									Porokeratosis																																								0													149.0	136.0	140.0					12																	108923992		2203	4300	6503	SO:0001583	missense	9733	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1842G>C	12.37:g.108923992C>G	ENSP00000228284:p.Lys614Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom	p.K614N	ENST00000228284.3	37	c.1842	CCDS9117.1	12	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406200	0.25378	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000535329;ENST00000412617;ENST00000546815	T;T;T	0.57752	2.4;2.27;0.38	6.03	4.12	0.48240	.	0.607647	0.19128	N	0.122001	T	0.26412	0.0645	N	0.14661	0.345	0.80722	D	1	P;B;B;B	0.41265	0.744;0.007;0.003;0.003	B;B;B;B	0.35813	0.211;0.005;0.002;0.003	T	0.05146	-1.0903	10	0.23891	T	0.37	-37.2455	2.6589	0.05020	0.1366:0.4754:0.2362:0.1518	.	562;632;578;614	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	N	614;578;190;562;632	ENSP00000228284:K614N;ENSP00000414453:K578N;ENSP00000449386:K632N	ENSP00000228284:K614N	K	-	3	2	SART3	107448122	1.000000	0.71417	0.997000	0.53966	0.226000	0.24999	1.330000	0.33781	1.552000	0.49463	0.655000	0.94253	AAG	SART3	-	NULL		0.473	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART3	HGNC	protein_coding	OTTHUMT00000404094.1	C			108923992	-1	no_errors	ENST00000228284	ensembl	human	known	70_37	missense	SNP	0.988	G
SASH1	23328	genome.wustl.edu	37	6	148855021	148855021	+	Missense_Mutation	SNP	G	G	A	rs587781245		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:148855021G>A	ENST00000367467.3	+	15	2324	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	617					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CAGTGAAGACGAGGAGAAACC	0.552																																																	0													102.0	93.0	96.0					6																	148855021		2203	4300	6503	SO:0001583	missense	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1849G>A	6.37:g.148855021G>A	ENSP00000356437:p.Glu617Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.E617K	ENST00000367467.3	37	c.1849	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334375	0.60853	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.31247	1.5	5.09	5.09	0.68999	Src homology-3 domain (1);	0.088701	0.85682	D	0.000000	T	0.20536	0.0494	M	0.73217	2.22	0.46113	D	0.998876	P;P	0.42993	0.618;0.797	B;B	0.28011	0.036;0.085	T	0.26292	-1.0107	10	0.54805	T	0.06	-18.5307	18.8564	0.92254	0.0:0.0:1.0:0.0	.	598;617	Q6P4R9;O94885	.;SASH1_HUMAN	K	617;378;27	ENSP00000356437:E617K	ENSP00000356437:E617K	E	+	1	0	SASH1	148896714	1.000000	0.71417	0.858000	0.33744	0.237000	0.25408	9.813000	0.99286	2.512000	0.84698	0.655000	0.94253	GAG	SASH1	-	superfamily_SH3_domain		0.552	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	G	NM_015278		148855021	+1	no_errors	ENST00000367467	ensembl	human	known	70_37	missense	SNP	0.999	A
SBF1	6305	genome.wustl.edu	37	22	50903265	50903265	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:50903265C>G	ENST00000390679.3	-	13	1598	c.1414G>C	c.(1414-1416)Gag>Cag	p.E472Q	SBF1_ENST00000348911.6_Missense_Mutation_p.E473Q|SBF1_ENST00000380817.3_Missense_Mutation_p.E472Q			O95248	MTMR5_HUMAN	SET binding factor 1	472					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TAGAGCTGCTCTGCCAGTTCC	0.662																																																	0													46.0	53.0	51.0					22																	50903265		2141	4236	6377	SO:0001583	missense	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1414G>C	22.37:g.50903265C>G	ENSP00000375097:p.Glu472Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.E472Q	ENST00000390679.3	37	c.1414		22	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413783	0.62511	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.86694	-2.16;-2.15;-2.15	4.17	4.17	0.49024	.	0.133174	0.49305	D	0.000141	D	0.90130	0.6916	L	0.43701	1.375	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.994;0.997;0.994	D	0.88139	0.2843	10	0.25751	T	0.34	.	16.272	0.82626	0.0:1.0:0.0:0.0	.	472;473;472	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	Q	472;473;483;482;472	ENSP00000370196:E472Q;ENSP00000252027:E473Q;ENSP00000375097:E472Q	ENSP00000336522:E482Q	E	-	1	0	SBF1	49250131	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.387000	0.59626	2.156000	0.67533	0.591000	0.81541	GAG	SBF1	-	NULL		0.662	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding		C			50903265	-1	no_errors	ENST00000380817	ensembl	human	known	70_37	missense	SNP	1.000	G
SBF2	81846	genome.wustl.edu	37	11	9851041	9851041	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:9851041G>C	ENST00000256190.8	-	28	3792	c.3655C>G	c.(3655-3657)Cct>Gct	p.P1219A		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1219	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GAGGAGGTAGGAGCTATAAAA	0.338																																																	0													80.0	83.0	82.0					11																	9851041		2201	4294	6495	SO:0001583	missense	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3655C>G	11.37:g.9851041G>C	ENSP00000256190:p.Pro1219Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.P1219A	ENST00000256190.8	37	c.3655	CCDS31427.1	11	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395652	0.42512	.	.	ENSG00000133812	ENST00000256190	D	0.85484	-1.99	5.56	3.62	0.41486	Myotubularin phosphatase domain (1);	0.198825	0.53938	N	0.000044	T	0.75072	0.3800	L	0.41573	1.285	0.54753	D	0.999984	B	0.06786	0.001	B	0.08055	0.003	T	0.62987	-0.6737	10	0.07325	T	0.83	.	10.3221	0.43773	0.0745:0.1363:0.7892:0.0	.	1219	Q86WG5	MTMRD_HUMAN	A	1219	ENSP00000256190:P1219A	ENSP00000256190:P1219A	P	-	1	0	SBF2	9807617	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.483000	0.73617	0.655000	0.30866	0.655000	0.94253	CCT	SBF2	-	NULL		0.338	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	HGNC	protein_coding	OTTHUMT00000386911.2	G	NM_030962		9851041	-1	no_errors	ENST00000256190	ensembl	human	known	70_37	missense	SNP	1.000	C
SBF2	81846	genome.wustl.edu	37	11	9879898	9879898	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:9879898C>T	ENST00000256190.8	-	18	2112	c.1975G>A	c.(1975-1977)Gac>Aac	p.D659N	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	659					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ATGGGGTGGTCTTGTACACAC	0.453																																																	0													146.0	130.0	136.0					11																	9879898		2201	4294	6495	SO:0001583	missense	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.1975G>A	11.37:g.9879898C>T	ENSP00000256190:p.Asp659Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.D659N	ENST00000256190.8	37	c.1975	CCDS31427.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.658482|5.658482	0.96734|0.96734	.|.	.|.	ENSG00000133812|ENSG00000133812	ENST00000256190|ENST00000420722	T|.	0.55930|.	0.49|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.050161|.	0.85682|.	D|.	0.000000|.	T|T	0.76579|0.76579	0.4007|0.4007	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	P|.	0.45768|.	0.866|.	P|.	0.54431|.	0.752|.	T|T	0.75210|0.75210	-0.3398|-0.3398	10|5	0.72032|.	D|.	0.01|.	.|.	19.5553|19.5553	0.95345|0.95345	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	659|.	Q86WG5|.	MTMRD_HUMAN|.	N|K	659|265	ENSP00000256190:D659N|.	ENSP00000256190:D659N|.	D|R	-|-	1|2	0|0	SBF2|SBF2	9836474|9836474	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	7.773000|7.773000	0.85462|0.85462	2.618000|2.618000	0.88619|0.88619	0.552000|0.552000	0.68991|0.68991	GAC|AGA	SBF2	-	pfam_SBF2		0.453	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	HGNC	protein_coding	OTTHUMT00000386911.2	C	NM_030962		9879898	-1	no_errors	ENST00000256190	ensembl	human	known	70_37	missense	SNP	1.000	T
SCAMP3	10067	genome.wustl.edu	37	1	155230175	155230175	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155230175C>G	ENST00000302631.3	-	4	441	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	CLK2_ENST00000497188.1_5'Flank|SCAMP3_ENST00000355379.3_Missense_Mutation_p.E86Q|SCAMP3_ENST00000472397.1_5'UTR	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	112					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGGTCCAACTCCTCTGCCTTC	0.592																																																	0													94.0	84.0	88.0					1																	155230175		2203	4300	6503	SO:0001583	missense	10067			AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.334G>C	1.37:g.155230175C>G	ENSP00000307275:p.Glu112Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	pfam_SCAMP	p.E112Q	ENST00000302631.3	37	c.334	CCDS1105.1	1	.	.	.	.	.	.	.	.	.	.	.	27.9	4.869845	0.91587	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	T;T	0.26660	1.99;1.72	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	M	0.71206	2.165	0.80722	D	1	D;P;D	0.56035	0.974;0.847;0.961	P;P;B	0.56278	0.795;0.73;0.335	T	0.22765	-1.0207	10	0.87932	D	0	-6.0874	15.0884	0.72174	0.0:1.0:0.0:0.0	.	112;86;112	Q6FHJ5;O14828-2;O14828	.;.;SCAM3_HUMAN	Q	112;86	ENSP00000307275:E112Q;ENSP00000347540:E86Q	ENSP00000307275:E112Q	E	-	1	0	SCAMP3	153496799	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.949000	0.75971	2.415000	0.81967	0.650000	0.86243	GAG	SCAMP3	-	NULL		0.592	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP3	HGNC	protein_coding	OTTHUMT00000087399.1	C	NM_005698		155230175	-1	no_errors	ENST00000302631	ensembl	human	known	70_37	missense	SNP	1.000	G
ZBED9	114821	genome.wustl.edu	37	6	28543884	28543884	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:28543884G>C	ENST00000452236.2	-	3	1215	c.598C>G	c.(598-600)Caa>Gaa	p.Q200E	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CCCATGCTTTGAGACATCATG	0.328																																																	0													45.0	48.0	47.0					6																	28543884		2164	4286	6450	SO:0001583	missense	114821																														ENST00000452236.2:c.598C>G	6.37:g.28543884G>C	ENSP00000395259:p.Gln200Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.Q200E	ENST00000452236.2	37	c.598	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253974	0.22965	.	.	ENSG00000232040	ENST00000452236	T	0.01430	4.9	3.08	2.18	0.27775	.	.	.	.	.	T	0.00496	0.0016	L	0.27053	0.805	0.20873	N	0.99984	B	0.20261	0.043	B	0.17433	0.018	T	0.47484	-0.9114	9	0.72032	D	0.01	.	7.5868	0.27998	0.0:0.0:0.7473:0.2527	.	200	Q6R2W3	SCND3_HUMAN	E	200	ENSP00000395259:Q200E	ENSP00000395259:Q200E	Q	-	1	0	SCAND3	28651863	0.997000	0.39634	0.639000	0.29394	0.960000	0.62799	1.569000	0.36428	0.617000	0.30160	0.585000	0.79938	CAA	SCAND3	-	NULL		0.328	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	G			28543884	-1	no_errors	ENST00000452236	ensembl	human	known	70_37	missense	SNP	0.811	C
SCARF2	91179	genome.wustl.edu	37	22	20786051	20786051	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:20786051G>C	ENST00000266214.5	-	3	419	c.315C>G	c.(313-315)ttC>ttG	p.F105L	SCARF2_ENST00000405555.3_Missense_Mutation_p.F105L	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	105	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGTTGGCACCGAAGTAGCCGT	0.682																																																	0													26.0	20.0	22.0					22																	20786051		2192	4281	6473	SO:0001583	missense	91179			AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.315C>G	22.37:g.20786051G>C	ENSP00000266214:p.Phe105Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom	p.F105L	ENST00000266214.5	37	c.315	CCDS13779.1	22	.	.	.	.	.	.	.	.	.	.	G	19.92	3.917117	0.73098	.	.	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.24723	1.84;1.84	3.98	2.92	0.33932	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	L	0.48877	1.53	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61800	0.894;0.894	T	0.03493	-1.1031	10	0.35671	T	0.21	-20.5242	6.992	0.24761	0.2208:0.0:0.7792:0.0	.	105;105	E5RFB8;Q96GP6	.;SREC2_HUMAN	L	105	ENSP00000385589:F105L;ENSP00000266214:F105L	ENSP00000266214:F105L	F	-	3	2	SCARF2	19116051	0.526000	0.26298	1.000000	0.80357	0.998000	0.95712	-0.152000	0.10159	0.775000	0.33450	0.591000	0.81541	TTC	SCARF2	-	smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom		0.682	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SCARF2	HGNC	protein_coding	OTTHUMT00000320047.1	G			20786051	-1	no_errors	ENST00000405555	ensembl	human	known	70_37	missense	SNP	1.000	C
GLRX5	51218	genome.wustl.edu	37	14	95999781	95999781	+	5'Flank	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:95999781G>A	ENST00000331334.4	+	0	0				SNHG10_ENST00000555866.1_RNA|SNHG10_ENST00000500370.2_RNA|SNHG10_ENST00000553559.1_RNA|SCARNA13_ENST00000516672.1_RNA|SNHG10_ENST00000554169.1_RNA	NM_016417.2	NP_057501.2	Q86SX6	GLRX5_HUMAN	glutaredoxin 5						cell redox homeostasis (GO:0045454)|hemopoiesis (GO:0030097)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|protein disulfide oxidoreductase activity (GO:0015035)			large_intestine(1)|lung(1)	2		all_cancers(154;0.135)		Epithelial(152;0.133)|COAD - Colon adenocarcinoma(157;0.21)|all cancers(159;0.212)		TTGGCGGATAGATAATGACAT	0.433																																																	0													236.0	233.0	234.0					14																	95999781		876	1991	2867	SO:0001631	upstream_gene_variant	677768			AF113691	CCDS9936.1	14q32.2	2007-08-16	2007-08-16	2005-11-11		ENSG00000182512			20134	protein-coding gene	gene with protein product		609588	"""chromosome 14 open reading frame 87"", ""glutaredoxin 5 homolog (S. cerevisiae)"""	C14orf87			Standard	NM_016417		Approved	PR01238, GRX5	uc001yem.1	Q86SX6			14.37:g.95999781G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0X088|Q3YML0|Q86WY3|Q8IZ54	RNA	SNP	-	NULL	ENST00000331334.4	37	NULL	CCDS9936.1	14																																																																																			SCARNA13	-	-		0.433	GLRX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARNA13	HGNC	protein_coding	OTTHUMT00000414550.1	G			95999781	-1	no_errors	ENST00000516672	ensembl	human	known	70_37	rna	SNP	1.000	A
SCG5	6447	genome.wustl.edu	37	15	32983947	32983947	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:32983947G>A	ENST00000300175.4	+	5	636	c.526G>A	c.(526-528)Gag>Aag	p.E176K	SCG5_ENST00000413748.2_Missense_Mutation_p.E175K|SCG5_ENST00000498069.1_3'UTR|SCG5_ENST00000497208.1_Intron|SCG5_ENST00000494364.1_Intron	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	176					intracellular protein transport (GO:0006886)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|regulation of hormone secretion (GO:0046883)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	enzyme inhibitor activity (GO:0004857)|GTP binding (GO:0005525)|unfolded protein binding (GO:0051082)			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		GAAGGGAGGAGAGAGACGAAA	0.468																																																	0													112.0	122.0	119.0					15																	32983947		1968	4146	6114	SO:0001583	missense	6447			Y00757	CCDS45207.1, CCDS45208.1	15q13-q14	2006-03-20	2006-03-20	2006-03-20	ENSG00000166922	ENSG00000166922			10816	protein-coding gene	gene with protein product	"""prohormone convertase chaperone"""	173120	"""secretory granule, neuroendocrine protein 1 (7B2 protein)"""	SGNE1		8162254, 12646671	Standard	NM_003020		Approved	7B2, SgV	uc001zha.2	P05408	OTTHUMG00000159447	ENST00000300175.4:c.526G>A	15.37:g.32983947G>A	ENSP00000300175:p.Glu176Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	P01164|Q6FHD0|Q9BS38	Missense_Mutation	SNP	pfam_Secretogranin_V	p.E176K	ENST00000300175.4	37	c.526	CCDS45207.1	15	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689391	0.29962	.	.	ENSG00000166922	ENST00000300175;ENST00000413748;ENST00000471027	.	.	.	5.08	3.16	0.36331	.	0.394418	0.30630	N	0.009215	T	0.35422	0.0931	N	0.12182	0.205	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.15870	0.014;0.014	T	0.20672	-1.0268	9	0.06236	T	0.91	.	15.2102	0.73219	0.0:0.7208:0.2792:0.0	.	176;175	P05408;Q6FHD0	7B2_HUMAN;.	K	176;175;166	.	ENSP00000300175:E176K	E	+	1	0	SCG5	30771239	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.550000	0.53691	0.808000	0.34231	-0.165000	0.13383	GAG	SCG5	-	pfam_Secretogranin_V		0.468	SCG5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCG5	HGNC	protein_coding	OTTHUMT00000355438.1	G	NM_003020		32983947	+1	no_errors	ENST00000300175	ensembl	human	known	70_37	missense	SNP	1.000	A
SCIN	85477	genome.wustl.edu	37	7	12675747	12675747	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:12675747G>C	ENST00000297029.5	+	10	1498	c.1397G>C	c.(1396-1398)gGa>gCa	p.G466A	SCIN_ENST00000445618.2_Missense_Mutation_p.G219A|SCIN_ENST00000519209.1_Missense_Mutation_p.G219A	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	466	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCCCTTGGAGGACAGGCTGTG	0.478																																																	0													82.0	81.0	81.0					7																	12675747		1984	4172	6156	SO:0001583	missense	85477			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1397G>C	7.37:g.12675747G>C	ENSP00000297029:p.Gly466Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	p.G466A	ENST00000297029.5	37	c.1397	CCDS47545.1	7	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106702	0.56291	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.55052	0.54;0.54;0.54	5.44	5.44	0.79542	Gelsolin domain (1);	0.186087	0.45606	D	0.000351	T	0.55970	0.1954	M	0.74546	2.27	0.47245	D	0.99936	P	0.35493	0.505	B	0.40477	0.33	T	0.61422	-0.7066	10	0.66056	D	0.02	-19.1648	9.5713	0.39429	0.1618:0.0:0.8382:0.0	.	466	Q9Y6U3	ADSV_HUMAN	A	466;219;219	ENSP00000297029:G466A;ENSP00000430997:G219A;ENSP00000390189:G219A	ENSP00000297029:G466A	G	+	2	0	SCIN	12642272	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.488000	0.66869	2.540000	0.85666	0.655000	0.94253	GGA	SCIN	-	pfam_Gelsolin_dom,smart_Gelsolin		0.478	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCIN	HGNC	protein_coding	OTTHUMT00000326041.1	G	NM_033128		12675747	+1	no_errors	ENST00000297029	ensembl	human	known	70_37	missense	SNP	0.993	C
SCN3A	6328	genome.wustl.edu	37	2	165947650	165947650	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:165947650G>C	ENST00000360093.3	-	28	5504	c.5013C>G	c.(5011-5013)atC>atG	p.I1671M	SCN3A_ENST00000283254.7_Missense_Mutation_p.I1671M|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000540861.1_Missense_Mutation_p.I154M|SCN3A_ENST00000409101.3_Missense_Mutation_p.I1622M|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1671					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACATCCCAAAGATGGCATAGA	0.453																																																	0													154.0	149.0	151.0					2																	165947650		2203	4300	6503	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5013C>G	2.37:g.165947650G>C	ENSP00000353206:p.Ile1671Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.I1671M	ENST00000360093.3	37	c.5013		2	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259618	0.39995	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.98958	-5.27;-5.27;-5.27;-5.27	5.85	4.96	0.65561	.	0.000000	0.64402	D	0.000006	D	0.99309	0.9758	H	0.97540	4.025	0.47778	D	0.999519	D;D;D	0.76494	0.997;0.976;0.999	D;P;D	0.80764	0.994;0.869;0.981	D	0.99364	1.0918	10	0.87932	D	0	.	6.2993	0.21103	0.1519:0.0:0.6631:0.185	.	1622;1622;1671	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	M	1671;1671;1622;154	ENSP00000353206:I1671M;ENSP00000283254:I1671M;ENSP00000386726:I1622M;ENSP00000439920:I154M	ENSP00000283254:I1671M	I	-	3	3	SCN3A	165655896	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.524000	0.45589	1.467000	0.48044	0.580000	0.79431	ATC	SCN3A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.453	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		G	NM_006922		165947650	-1	no_errors	ENST00000283254	ensembl	human	known	70_37	missense	SNP	1.000	C
SCN9A	6335	genome.wustl.edu	37	2	167141147	167141147	+	Missense_Mutation	SNP	C	C	G	rs200821646		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:167141147C>G	ENST00000409435.1	-	11	1789	c.1790G>C	c.(1789-1791)cGa>cCa	p.R597P	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R598P|SCN9A_ENST00000409672.1_Missense_Mutation_p.R597P|SCN9A_ENST00000375387.4_Missense_Mutation_p.R598P			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	597					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACTGCTGCGTCGCTCCTGGGG	0.547																																																	0													95.0	101.0	99.0					2																	167141147		2141	4259	6400	SO:0001583	missense	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1790G>C	2.37:g.167141147C>G	ENSP00000386330:p.Arg597Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.R598P	ENST00000409435.1	37	c.1793	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935556	0.34189	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.64	4.76	0.60689	Domain of unknown function DUF3451 (1);	0.000000	0.53938	D	0.000041	D	0.95255	0.8461	M	0.84219	2.685	0.50467	D	0.999871	P;D;P	0.56521	0.902;0.976;0.48	B;P;B	0.57720	0.409;0.826;0.43	D	0.95711	0.8758	10	0.72032	D	0.01	.	14.86	0.70372	0.0:0.9309:0.0:0.0691	.	597;597;598	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	P	597;598;598;597;462;462	ENSP00000386306:R597P;ENSP00000364536:R598P;ENSP00000304748:R598P;ENSP00000386330:R597P;ENSP00000413212:R462P;ENSP00000393141:R462P	ENSP00000304748:R598P	R	-	2	0	SCN9A	166849393	0.836000	0.29430	1.000000	0.80357	0.346000	0.29079	3.569000	0.53827	1.524000	0.49035	-0.259000	0.10710	CGA	SCN9A	-	pfam_DUF3451		0.547	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	C	NM_002977		167141147	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	missense	SNP	1.000	G
SCN9A	6335	genome.wustl.edu	37	2	167142954	167142954	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:167142954C>T	ENST00000409435.1	-	10	1493	c.1494G>A	c.(1492-1494)gaG>gaA	p.E498E	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.E499E|SCN9A_ENST00000409672.1_Silent_p.E498E|SCN9A_ENST00000375387.4_Silent_p.E499E			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	498					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCGACAATTTCTCAGCATCTC	0.423																																																	0													154.0	146.0	148.0					2																	167142954		1900	4112	6012	SO:0001819	synonymous_variant	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1494G>A	2.37:g.167142954C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.E499	ENST00000409435.1	37	c.1497	CCDS46441.1	2																																																																																			SCN9A	-	pfam_DUF3451		0.423	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	C	NM_002977		167142954	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	silent	SNP	0.999	T
SCN9A	6335	genome.wustl.edu	37	2	167143087	167143087	+	Missense_Mutation	SNP	C	C	T	rs199825426		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:167143087C>T	ENST00000409435.1	-	10	1360	c.1361G>A	c.(1360-1362)aGa>aAa	p.R454K	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R455K|SCN9A_ENST00000409672.1_Missense_Mutation_p.R454K|SCN9A_ENST00000375387.4_Missense_Mutation_p.R455K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	454					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCCATAATTCTGCTTCTCCT	0.398																																																	0													34.0	31.0	32.0					2																	167143087		1836	4081	5917	SO:0001583	missense	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1361G>A	2.37:g.167143087C>T	ENSP00000386330:p.Arg454Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.R455K	ENST00000409435.1	37	c.1364	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	9.824	1.186504	0.21870	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;T;T	0.95724	-3.75;-3.78;-3.78;-3.79;-0.29;-0.29	5.71	3.59	0.41128	.	0.690842	0.14067	N	0.343630	D	0.89966	0.6868	N	0.14661	0.345	0.24101	N	0.99588	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.82212	-0.0569	10	0.45353	T	0.12	.	13.2243	0.59907	0.0:0.8491:0.0:0.1509	.	454;454;455	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	K	454;455;455;454;319;319	ENSP00000386306:R454K;ENSP00000364536:R455K;ENSP00000304748:R455K;ENSP00000386330:R454K;ENSP00000413212:R319K;ENSP00000393141:R319K	ENSP00000304748:R455K	R	-	2	0	SCN9A	166851333	0.191000	0.23288	0.897000	0.35233	0.995000	0.86356	1.145000	0.31577	1.418000	0.47098	0.585000	0.79938	AGA	SCN9A	-	NULL		0.398	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	C	NM_002977		167143087	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	missense	SNP	0.875	T
SCN9A	6335	genome.wustl.edu	37	2	167143093	167143093	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:167143093C>T	ENST00000409435.1	-	10	1354	c.1355G>A	c.(1354-1356)aGa>aAa	p.R452K	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R453K|SCN9A_ENST00000409672.1_Missense_Mutation_p.R452K|SCN9A_ENST00000375387.4_Missense_Mutation_p.R453K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	452					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATTCTGCTTCTCCTAATACT	0.408																																																	0													31.0	29.0	29.0					2																	167143093		1840	4084	5924	SO:0001583	missense	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1355G>A	2.37:g.167143093C>T	ENSP00000386330:p.Arg452Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.R453K	ENST00000409435.1	37	c.1358	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	9.614	1.132048	0.21041	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;T;T	0.95885	-3.81;-3.84;-3.84;-3.83;-0.34;-0.34	5.41	4.54	0.55810	.	0.198044	0.35436	N	0.003217	D	0.86464	0.5939	N	0.08118	0	0.25944	N	0.982834	B;B;B	0.14012	0.002;0.004;0.009	B;B;B	0.17098	0.002;0.012;0.017	T	0.71984	-0.4427	10	0.07644	T	0.81	.	9.413	0.38503	0.1753:0.7476:0.0:0.077	.	452;452;453	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	K	452;453;453;452;317;317	ENSP00000386306:R452K;ENSP00000364536:R453K;ENSP00000304748:R453K;ENSP00000386330:R452K;ENSP00000413212:R317K;ENSP00000393141:R317K	ENSP00000304748:R453K	R	-	2	0	SCN9A	166851339	0.252000	0.23972	0.877000	0.34402	0.988000	0.76386	0.626000	0.24492	1.420000	0.47138	0.585000	0.79938	AGA	SCN9A	-	NULL		0.408	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	C	NM_002977		167143093	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	missense	SNP	0.830	T
SCNN1A	6337	genome.wustl.edu	37	12	6457203	6457203	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:6457203G>A	ENST00000228916.2	-	13	1944	c.1846C>T	c.(1846-1848)Cac>Tac	p.H616Y	SCNN1A_ENST00000358945.3_Missense_Mutation_p.H638Y|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000360168.3_Missense_Mutation_p.H675Y|SCNN1A_ENST00000543768.1_Missense_Mutation_p.H639Y|SCNN1A_ENST00000540037.1_Missense_Mutation_p.H316Y	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	616					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	gggcagaagtgggaaggaggg	0.672																																																	0													31.0	28.0	29.0					12																	6457203		2201	4298	6499	SO:0001583	missense	6337			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1846C>T	12.37:g.6457203G>A	ENSP00000228916:p.His616Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.H638Y	ENST00000228916.2	37	c.1912	CCDS8543.1	12	.	.	.	.	.	.	.	.	.	.	G	1.716	-0.497779	0.04291	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.69926	-0.41;-0.44;-0.23;-0.39;-0.4	3.85	-0.596	0.11657	.	1.203120	0.06060	N	0.658138	T	0.46073	0.1374	L	0.36672	1.1	0.09310	N	1	P;P;P	0.44578	0.837;0.734;0.838	B;B;B	0.37550	0.129;0.091;0.253	T	0.30909	-0.9962	10	0.02654	T	1	-0.0501	5.2599	0.15567	0.1048:0.0:0.387:0.5083	.	639;616;675	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	Y	675;638;316;616;639	ENSP00000353292:H675Y;ENSP00000351825:H638Y;ENSP00000440876:H316Y;ENSP00000228916:H616Y;ENSP00000438739:H639Y	ENSP00000228916:H616Y	H	-	1	0	SCNN1A	6327464	0.994000	0.37717	0.043000	0.18650	0.479000	0.33129	-0.232000	0.09055	-0.032000	0.13758	0.555000	0.69702	CAC	SCNN1A	-	NULL		0.672	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	HGNC	protein_coding	OTTHUMT00000399055.1	G			6457203	-1	no_errors	ENST00000358945	ensembl	human	known	70_37	missense	SNP	0.017	A
SCPEP1	59342	genome.wustl.edu	37	17	55065599	55065599	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:55065599C>G	ENST00000262288.3	+	5	549	c.494C>G	c.(493-495)tCa>tGa	p.S165*	SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	165					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TACATTTTCTCAGAGTCCTAT	0.328																																																	0													143.0	143.0	143.0					17																	55065599		2203	4300	6503	SO:0001587	stop_gained	59342			AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.494C>G	17.37:g.55065599C>G	ENSP00000262288:p.Ser165*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96A94|Q9H3F0	Nonsense_Mutation	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.S165*	ENST00000262288.3	37	c.494	CCDS11593.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.842486	0.97016	.	.	ENSG00000121064	ENST00000262288	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.7414	19.8407	0.96681	0.0:1.0:0.0:0.0	.	.	.	.	X	165	.	ENSP00000262288:S165X	S	+	2	0	SCPEP1	52420598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.970000	0.76099	2.763000	0.94921	0.563000	0.77884	TCA	SCPEP1	-	pfam_Peptidase_S10,prints_Peptidase_S10		0.328	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCPEP1	HGNC	protein_coding	OTTHUMT00000440622.1	C	NM_021626		55065599	+1	no_errors	ENST00000262288	ensembl	human	known	70_37	nonsense	SNP	1.000	G
SCPEP1	59342	genome.wustl.edu	37	17	55072350	55072350	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:55072350C>A	ENST00000262288.3	+	7	683	c.628C>A	c.(628-630)Ctc>Atc	p.L210I	SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	210					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AGATTCGGTGCTCTCCTGGGG	0.453																																																	0													210.0	169.0	183.0					17																	55072350		2203	4300	6503	SO:0001583	missense	59342			AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.628C>A	17.37:g.55072350C>A	ENSP00000262288:p.Leu210Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96A94|Q9H3F0	Nonsense_Mutation	SNP	pfam_Peptidase_S10	p.C119*	ENST00000262288.3	37	c.357	CCDS11593.1	17	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055537	0.75960	.	.	ENSG00000121064	ENST00000262288	T	0.44881	0.91	5.96	3.93	0.45458	.	0.206543	0.49916	D	0.000122	T	0.49201	0.1543	M	0.84156	2.68	0.47123	D	0.99932	B	0.29531	0.247	B	0.36959	0.237	T	0.42396	-0.9454	10	0.16896	T	0.51	-21.0329	13.29	0.60267	0.1272:0.7508:0.122:0.0	.	210	Q9HB40	RISC_HUMAN	I	210	ENSP00000262288:L210I	ENSP00000262288:L210I	L	+	1	0	SCPEP1	52427349	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.986000	0.40677	0.815000	0.34398	-0.172000	0.13284	CTC	SCPEP1	-	NULL		0.453	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCPEP1	HGNC	protein_coding	OTTHUMT00000440622.1	C	NM_021626		55072350	+1	no_errors	ENST00000572591	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SCRN3	79634	genome.wustl.edu	37	2	175260629	175260629	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:175260629G>C	ENST00000272732.6	+	1	73				CIR1_ENST00000342016.3_5'Flank|SCRN3_ENST00000409673.3_Intron|CIR1_ENST00000362053.5_5'Flank	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3								dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			CTGCTTGACCGAGGGGCTCCG	0.701																																																	0																																										SO:0001627	intron_variant	79634			AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.-10+84G>C	2.37:g.175260629G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	RNA	SNP	-	NULL	ENST00000272732.6	37	NULL	CCDS2258.1	2																																																																																			SCRN3	-	-		0.701	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN3	HGNC	protein_coding	OTTHUMT00000255451.2	G	NM_024583		175260629	+1	no_errors	ENST00000488349	ensembl	human	putative	70_37	rna	SNP	0.000	C
SDCCAG8	10806	genome.wustl.edu	37	1	243507589	243507589	+	Missense_Mutation	SNP	G	G	C	rs556191085		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:243507589G>C	ENST00000366541.3	+	12	1547	c.1429G>C	c.(1429-1431)Gag>Cag	p.E477Q	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.E434Q|MIR4677_ENST00000584153.1_RNA|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.E332Q	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	477	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GGAGCACAGAGAGTTCAGAGC	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18128	0.0		0.0	False		,,,				2504	0.0																0													111.0	108.0	109.0					1																	243507589		2203	4300	6503	SO:0001583	missense	10806			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1429G>C	1.37:g.243507589G>C	ENSP00000355499:p.Glu477Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	NULL	p.E477Q	ENST00000366541.3	37	c.1429	CCDS31075.1	1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576508	0.65878	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.51071	0.82;0.81;0.81;0.72	6.07	5.15	0.70609	.	0.294188	0.36066	N	0.002811	T	0.42966	0.1226	L	0.29908	0.895	0.41058	D	0.985357	P;D	0.53462	0.928;0.96	B;P	0.47891	0.295;0.56	T	0.22277	-1.0221	10	0.21014	T	0.42	-1.2316	15.6863	0.77411	0.066:0.0:0.934:0.0	.	434;477	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	Q	434;477;332;257	ENSP00000348137:E434Q;ENSP00000355499:E477Q;ENSP00000341260:E332Q;ENSP00000410200:E257Q	ENSP00000341260:E332Q	E	+	1	0	SDCCAG8	241574212	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.373000	0.59537	1.558000	0.49541	0.585000	0.79938	GAG	SDCCAG8	-	NULL		0.378	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCCAG8	HGNC	protein_coding	OTTHUMT00000096485.1	G	NM_006642		243507589	+1	no_errors	ENST00000366541	ensembl	human	known	70_37	missense	SNP	1.000	C
SDHA	6389	genome.wustl.edu	37	5	228353	228353	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:228353G>C	ENST00000264932.6	+	6	790	c.675G>C	c.(673-675)ctG>ctC	p.L225L	SDHA_ENST00000510361.1_Silent_p.L177L|SDHA_ENST00000504309.1_Silent_p.L225L	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	225					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TGGATCTCCTGATGGAGAATG	0.458									Familial Paragangliomas																																								0													89.0	85.0	86.0					5																	228353		2203	4300	6503	SO:0001819	synonymous_variant	6389	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.675G>C	5.37:g.228353G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Silent	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.L225	ENST00000264932.6	37	c.675	CCDS3853.1	5																																																																																			SDHA	-	pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg		0.458	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1	G	NM_004168		228353	+1	no_errors	ENST00000264932	ensembl	human	known	70_37	silent	SNP	1.000	C
SEC23B	10483	genome.wustl.edu	37	20	18492926	18492926	+	Splice_Site	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:18492926G>C	ENST00000336714.3	+	3	711	c.279G>C	c.(277-279)caG>caC	p.Q93H	SEC23B_ENST00000377465.1_Splice_Site_p.Q93H|SEC23B_ENST00000377475.3_Splice_Site_p.Q93H|SEC23B_ENST00000262544.2_Splice_Site_p.Q93H|SEC23B_ENST00000494645.1_3'UTR	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	93					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						AAAGAAATCAGGTATGTGaat	0.274																																																	0													24.0	26.0	25.0					20																	18492926		2198	4274	6472	SO:0001630	splice_region_variant	10483			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.279+1G>C	20.37:g.18492926G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.Q93H	ENST00000336714.3	37	c.279	CCDS13137.1	20	.	.	.	.	.	.	.	.	.	.	G	9.107	1.005538	0.19199	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	4.93	4.93	0.64822	Zinc finger, Sec23/Sec24-type (2);	0.180852	0.49305	D	0.000141	T	0.53530	0.1802	N	0.02721	-0.515	0.54753	D	0.999982	B;B	0.10296	0.003;0.002	B;B	0.13407	0.004;0.009	T	0.55988	-0.8053	10	0.02654	T	1	-14.7116	17.6669	0.88205	0.0:0.0:1.0:0.0	.	93;93	B4DJW8;Q15437	.;SC23B_HUMAN	H	93	ENSP00000403971:Q93H;ENSP00000338844:Q93H;ENSP00000262544:Q93H;ENSP00000366695:Q93H;ENSP00000366685:Q93H	ENSP00000262544:Q93H	Q	+	3	2	SEC23B	18440926	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.729000	0.47327	2.721000	0.93114	0.655000	0.94253	CAG	SEC23B	-	pfam_Znf_Sec23_Sec24,superfamily_Znf_Sec23_Sec24		0.274	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEC23B	HGNC	protein_coding	OTTHUMT00000078184.5	G		Missense_Mutation	18492926	+1	no_errors	ENST00000262544	ensembl	human	known	70_37	missense	SNP	1.000	C
SEC23IP	11196	genome.wustl.edu	37	10	121680416	121680416	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:121680416G>C	ENST00000369075.3	+	12	2113	c.2041G>C	c.(2041-2043)Gat>Cat	p.D681H	SEC23IP_ENST00000543134.1_Missense_Mutation_p.D470H	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	681	SAM.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GTGTACAGTTGATGACCTGAA	0.368																																																	0													157.0	147.0	150.0					10																	121680416		2203	4300	6503	SO:0001583	missense	11196			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2041G>C	10.37:g.121680416G>C	ENSP00000358071:p.Asp681His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD	p.D681H	ENST00000369075.3	37	c.2041	CCDS7618.1	10	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063382	0.76187	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.55930	0.49;0.49	5.42	5.42	0.78866	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.105036	0.64402	D	0.000002	T	0.66992	0.2846	L	0.53671	1.685	0.58432	D	0.999991	D;P	0.54601	0.967;0.697	P;B	0.61201	0.885;0.44	T	0.68085	-0.5502	10	0.66056	D	0.02	-26.1952	17.7781	0.88515	0.0:0.0:1.0:0.0	.	470;681	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	H	681;470	ENSP00000358071:D681H;ENSP00000438773:D470H	ENSP00000358071:D681H	D	+	1	0	SEC23IP	121670406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.032000	0.70918	2.711000	0.92665	0.655000	0.94253	GAT	SEC23IP	-	pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM		0.368	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23IP	HGNC	protein_coding	OTTHUMT00000050688.1	G			121680416	+1	no_errors	ENST00000369075	ensembl	human	known	70_37	missense	SNP	1.000	C
SEMA4F	10505	genome.wustl.edu	37	2	74902651	74902651	+	Splice_Site	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:74902651G>C	ENST00000357877.2	+	11	1521		c.e11-1		SEMA4F_ENST00000339773.5_Splice_Site|SEMA4F_ENST00000473350.1_Splice_Site	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CTGTCCCCTAGAGGATGGACA	0.498																																																	0													107.0	102.0	104.0					2																	74902651		2203	4300	6503	SO:0001630	splice_region_variant	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1373-1G>C	2.37:g.74902651G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q542Y7|Q9NS35	Splice_Site	SNP	-	e11-1	ENST00000357877.2	37	c.1373-1	CCDS1955.1	2	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845870	0.32606	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.666	0.77230	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEMA4F	74756159	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	8.379000	0.90146	2.555000	0.86185	0.467000	0.42956	.	SEMA4F	-	-		0.498	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	G	NM_004263	Intron	74902651	+1	no_errors	ENST00000357877	ensembl	human	known	70_37	splice_site	SNP	1.000	C
SENP2	59343	genome.wustl.edu	37	3	185344103	185344103	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:185344103G>C	ENST00000296257.5	+	16	1869	c.1629G>C	c.(1627-1629)ctG>ctC	p.L543L	SENP2_ENST00000545472.1_Silent_p.L533L|SENP2_ENST00000427465.2_Silent_p.L367L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	543	Protease.				cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTCAACAGCTGAATGGGAGTG	0.338																																																	0													100.0	99.0	99.0					3																	185344103		2203	4300	6503	SO:0001819	synonymous_variant	59343			AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1629G>C	3.37:g.185344103G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Silent	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.L543	ENST00000296257.5	37	c.1629	CCDS33902.1	3																																																																																			SENP2	-	pfam_Peptidase_C48,pfscan_Peptidase_C48		0.338	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP2	HGNC	protein_coding	OTTHUMT00000345159.1	G	NM_021627		185344103	+1	no_errors	ENST00000296257	ensembl	human	known	70_37	silent	SNP	1.000	C
SENP5	205564	genome.wustl.edu	37	3	196612055	196612055	+	Start_Codon_SNP	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:196612055G>C	ENST00000323460.5	+	2	252	c.3G>C	c.(1-3)atG>atC	p.M1I	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Start_Codon_SNP_p.M1I	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	1					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.Q4fs*16(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TCAGAAAAATGAAAAAACAGA	0.333																																					Ovarian(47;891 1095 11174 13858 51271)												1	Insertion - Frameshift(1)	large_intestine(1)											48.0	49.0	49.0					3																	196612055		2201	4300	6501	SO:0001582	initiator_codon_variant	205564			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.3G>C	3.37:g.196612055G>C	ENSP00000327197:p.Met1Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DY82|Q96SA5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.M1I	ENST00000323460.5	37	c.3	CCDS3322.1	3	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198052	0.58126	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.32515	1.87;1.45	5.18	4.3	0.51218	.	0.000000	0.64402	D	0.000005	T	0.54631	0.1870	.	.	.	0.80722	D	1	D;P	0.57899	0.981;0.924	D;P	0.67900	0.954;0.878	T	0.61382	-0.7074	9	0.87932	D	0	-13.6892	13.6562	0.62339	0.0:0.0:0.8439:0.1561	.	1;1	B4DY82;Q96HI0	.;SENP5_HUMAN	I	1	ENSP00000327197:M1I;ENSP00000390231:M1I	ENSP00000327197:M1I	M	+	3	0	SENP5	198096452	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.473000	0.73572	1.488000	0.48433	0.655000	0.94253	ATG	SENP5	-	NULL		0.333	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP5	HGNC	protein_coding	OTTHUMT00000340524.1	G	NM_152699	Missense_Mutation	196612055	+1	no_errors	ENST00000323460	ensembl	human	known	70_37	missense	SNP	1.000	C
SEPT12	124404	genome.wustl.edu	37	16	4827818	4827818	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:4827818C>T	ENST00000268231.8	-	10	1320	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N	SEPT12_ENST00000396693.5_Missense_Mutation_p.D307N	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	353					cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TCATCAGAATCGTCATGGGCC	0.662																																																	0													12.0	14.0	13.0					16																	4827818		2174	4262	6436	SO:0001583	missense	124404			AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.1057G>A	16.37:g.4827818C>T	ENSP00000268231:p.Asp353Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin	p.D353N	ENST00000268231.8	37	c.1057	CCDS10522.1	16	.	.	.	.	.	.	.	.	.	.	C	8.784	0.928896	0.18131	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	T;T	0.51574	0.71;0.7	4.45	0.984	0.19773	.	3.120170	0.01293	N	0.010076	T	0.30823	0.0777	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.28138	-1.0053	10	0.54805	T	0.06	.	7.4229	0.27081	0.0:0.593:0.0:0.407	.	307;353	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	N	307;353	ENSP00000379922:D307N;ENSP00000268231:D353N	ENSP00000268231:D353N	D	-	1	0	SEPT12	4767819	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.079000	0.11357	0.085000	0.17107	0.561000	0.74099	GAT	SEPT12	-	pirsf_Septin		0.662	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT12	HGNC	protein_coding	OTTHUMT00000251645.2	C	NM_144605		4827818	-1	no_errors	ENST00000268231	ensembl	human	known	70_37	missense	SNP	0.000	T
SEPT12	124404	genome.wustl.edu	37	16	4835864	4835864	+	Silent	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:4835864C>A	ENST00000268231.8	-	4	581	c.318G>T	c.(316-318)ctG>ctT	p.L106L	SEPT12_ENST00000591861.1_5'UTR|SEPT12_ENST00000396693.5_Silent_p.L106L|SMIM22_ENST00000589327.1_5'Flank|SMIM22_ENST00000589721.1_5'Flank	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	106	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CCGTCAGCTTCAGCTTCACAC	0.552																																																	0													83.0	80.0	81.0					16																	4835864		2197	4300	6497	SO:0001819	synonymous_variant	124404			AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.318G>T	16.37:g.4835864C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P6B0|Q1PBH0|Q96LL0	Silent	SNP	pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin	p.L106	ENST00000268231.8	37	c.318	CCDS10522.1	16																																																																																			SEPT12	-	pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin		0.552	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT12	HGNC	protein_coding	OTTHUMT00000251645.2	C	NM_144605		4835864	-1	no_errors	ENST00000268231	ensembl	human	known	70_37	silent	SNP	1.000	A
SERF2	10169	genome.wustl.edu	37	15	44086132	44086132	+	3'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:44086132C>G	ENST00000381359.1	+	0	1270				SERF2_ENST00000249786.4_3'UTR|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000409614.1_3'UTR|HYPK_ENST00000406925.1_5'Flank|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409960.2_Missense_Mutation_p.Q159E|SERF2_ENST00000339624.5_Missense_Mutation_p.Q122E|SERF2_ENST00000402131.1_3'UTR|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000403425.1_3'UTR|MIR1282_ENST00000408865.1_RNA	NM_001199877.1	NP_001186806.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2							cytosol (GO:0005829)|nucleus (GO:0005634)				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		TCCTTCCCCTCAGGTAGCCTC	0.582																																																	0																																										SO:0001624	3_prime_UTR_variant	10169			AF073298	CCDS32218.1, CCDS55963.1, CCDS55964.1, CCDS55965.1	15q15.1	2008-01-18			ENSG00000140264	ENSG00000140264			10757	protein-coding gene	gene with protein product		605054				9731538	Standard	NM_001199876		Approved	H4F5rel, 4F5REL, FAM2C, HsT17089	uc010bdq.3	P84101	OTTHUMG00000059935	ENST00000381359.1:c.*161C>G	15.37:g.44086132C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL45|B5MCG1|B9A026|O75918|O88891|Q9BZH7	Missense_Mutation	SNP	pfam_Uncharacterised_SERF	p.Q159E	ENST00000381359.1	37	c.475	CCDS32218.1	15	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416349	0.42918	.	.	ENSG00000140264	ENST00000409960;ENST00000339624	T;T	0.53206	0.63;0.69	6.07	6.07	0.98685	.	.	.	.	.	T	0.31979	0.0814	N	0.08118	0	0.80722	D	1	B;B	0.31837	0.018;0.342	B;B	0.31245	0.034;0.126	T	0.28459	-1.0043	9	0.87932	D	0	.	16.1594	0.81686	0.0:1.0:0.0:0.0	.	122;159	A6NL45;B9A026	.;.	E	159;122	ENSP00000387187:Q159E;ENSP00000339647:Q122E	ENSP00000339647:Q122E	Q	+	1	0	SERF2	41873424	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.418000	0.44662	2.885000	0.99019	0.655000	0.94253	CAG	SERF2	-	NULL		0.582	SERF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERF2	HGNC	protein_coding	OTTHUMT00000133233.2	C	NM_005770		44086132	+1	no_errors	ENST00000409960	ensembl	human	putative	70_37	missense	SNP	1.000	G
HYPK	25764	genome.wustl.edu	37	15	44092743	44092743	+	5'UTR	SNP	C	C	T	rs530299321		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:44092743C>T	ENST00000406925.1	+	0	4058				HYPK_ENST00000442995.2_5'UTR|SERINC4_ENST00000319327.6_5'Flank|SERF2_ENST00000600633.1_5'UTR|SERF2_ENST00000594896.1_Missense_Mutation_p.P29S|RP11-296A16.1_ENST00000417761.2_5'Flank|SERINC4_ENST00000249714.3_5'Flank|HYPK_ENST00000458412.1_5'Flank|HYPK_ENST00000498605.1_3'UTR|SERINC4_ENST00000299969.6_5'Flank			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K							cytoplasm (GO:0005737)|nucleus (GO:0005634)							all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		AGCCCCGCCTCCTCCCCGGGC	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18550	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001623	5_prime_UTR_variant	10169			AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"""Huntingtin yeast partner K"""	612784	"""chromosome 15 open reading frame 63"""	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.-54C>T	15.37:g.44092743C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JKJ0|O75408|Q8WUW8|Q9P024	Missense_Mutation	SNP	NULL	p.P29S	ENST00000406925.1	37	c.85	CCDS10104.1	15																																																																																			SERF2	-	NULL		0.612	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SERF2	HGNC	protein_coding	OTTHUMT00000133876.3	C	NM_016400		44092743	+1	no_errors	ENST00000594896	ensembl	human	known	70_37	missense	SNP	0.057	T
SERINC2	347735	genome.wustl.edu	37	1	31897655	31897655	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:31897655C>G	ENST00000373709.3	+	3	477	c.327C>G	c.(325-327)ttC>ttG	p.F109L	SERINC2_ENST00000536859.1_Missense_Mutation_p.F113L|SERINC2_ENST00000536384.1_Missense_Mutation_p.F113L|SERINC2_ENST00000373710.1_Missense_Mutation_p.F118L|SERINC2_ENST00000491976.1_3'UTR	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	109					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CCTTCTTCTTCTTTTTCACCC	0.657																																																	0													20.0	21.0	20.0					1																	31897655		2203	4300	6503	SO:0001583	missense	347735			AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.327C>G	1.37:g.31897655C>G	ENSP00000362813:p.Phe109Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	pfam_TMS_TDE	p.F118L	ENST00000373709.3	37	c.354	CCDS30662.1	1	.	.	.	.	.	.	.	.	.	.	C	8.814	0.935880	0.18206	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	4.3	3.36	0.38483	.	0.000000	0.85682	D	0.000000	T	0.06826	0.0174	N	0.16602	0.42	0.58432	D	0.999994	B;B;B;B	0.21905	0.011;0.011;0.011;0.062	B;B;B;B	0.31016	0.075;0.035;0.035;0.123	T	0.33266	-0.9875	10	0.16896	T	0.51	-45.7025	9.0001	0.36077	0.0:0.8249:0.0:0.1751	.	113;118;113;109	B4DJK5;E7EUZ9;B7Z567;Q96SA4	.;.;.;SERC2_HUMAN	L	118;113;109;113	ENSP00000362814:F118L;ENSP00000444307:F113L;ENSP00000362813:F109L;ENSP00000439048:F113L	ENSP00000362813:F109L	F	+	3	2	SERINC2	31670242	0.994000	0.37717	0.998000	0.56505	0.380000	0.30137	0.873000	0.28052	2.239000	0.73571	0.655000	0.94253	TTC	SERINC2	-	pfam_TMS_TDE		0.657	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC2	HGNC	protein_coding	OTTHUMT00000010680.1	C	NM_018565		31897655	+1	no_errors	ENST00000373710	ensembl	human	known	70_37	missense	SNP	1.000	G
SERPINB10	5273	genome.wustl.edu	37	18	61597293	61597293	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:61597293C>T	ENST00000238508.3	+	6	564	c.505C>T	c.(505-507)Ctc>Ttc	p.L169F		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	169					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AATCCAGAATCTCCTGCCTGA	0.383																																																	0													79.0	76.0	77.0					18																	61597293		2203	4299	6502	SO:0001583	missense	5273			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.505C>T	18.37:g.61597293C>T	ENSP00000238508:p.Leu169Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VAX4|Q4VAX7	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L169F	ENST00000238508.3	37	c.505	CCDS11990.1	18	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556898	0.65425	.	.	ENSG00000242550	ENST00000238508	D	0.87491	-2.26	5.71	4.83	0.62350	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.93805	0.8019	M	0.92691	3.335	0.51012	D	0.999906	D	0.69078	0.997	D	0.68039	0.955	D	0.94083	0.7346	10	0.87932	D	0	.	9.3161	0.37934	0.0:0.779:0.1462:0.0748	.	169	P48595	SPB10_HUMAN	F	169	ENSP00000238508:L169F	ENSP00000238508:L169F	L	+	1	0	SERPINB10	59748273	0.835000	0.29415	0.955000	0.39395	0.901000	0.52897	1.126000	0.31344	1.409000	0.46915	0.655000	0.94253	CTC	SERPINB10	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.383	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB10	HGNC	protein_coding	OTTHUMT00000134012.3	C	NM_005024		61597293	+1	no_errors	ENST00000238508	ensembl	human	known	70_37	missense	SNP	1.000	T
SERPINB8	5271	genome.wustl.edu	37	18	61649015	61649015	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:61649015G>A	ENST00000397985.2	+	4	623	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	SERPINB8_ENST00000397988.3_Missense_Mutation_p.E123K|SERPINB8_ENST00000353706.2_Missense_Mutation_p.E123K|SERPINB8_ENST00000542677.1_5'UTR	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	123					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				GTCCTTTGCTGAAGACACTGA	0.403																																																	0													192.0	180.0	184.0					18																	61649015		2203	4300	6503	SO:0001583	missense	5271			L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.367G>A	18.37:g.61649015G>A	ENSP00000381072:p.Glu123Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.E123K	ENST00000397985.2	37	c.367	CCDS11991.1	18	.	.	.	.	.	.	.	.	.	.	G	3.646	-0.072589	0.07228	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000397988;ENST00000448851;ENST00000441827	D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8	5.21	-10.4	0.00318	Serpin domain (3);	1.013200	0.07871	N	0.967944	T	0.57095	0.2030	N	0.04820	-0.15	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.48103	-0.9064	9	.	.	.	.	9.2208	0.37375	0.6874:0.2219:0.0907:0.0	.	123;123	P50452;Q8N178	SPB8_HUMAN;.	K	123	ENSP00000381072:E123K;ENSP00000331368:E123K;ENSP00000381075:E123K;ENSP00000414580:E123K;ENSP00000393456:E123K	.	E	+	1	0	SERPINB8	59799995	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-2.070000	0.01380	-2.747000	0.00376	-0.373000	0.07131	GAA	SERPINB8	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.403	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB8	HGNC	protein_coding	OTTHUMT00000134014.1	G	NM_001031848		61649015	+1	no_errors	ENST00000353706	ensembl	human	known	70_37	missense	SNP	0.000	A
SERPINI1	5274	genome.wustl.edu	37	3	167512530	167512530	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:167512530C>G	ENST00000295777.5	+	5	1230	c.799C>G	c.(799-801)Ctg>Gtg	p.L267V	SERPINI1_ENST00000446050.2_Missense_Mutation_p.L267V	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	267					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L267L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TCTTGCTACTCTGGAGCCATT	0.453																																																	1	Substitution - coding silent(1)	endometrium(1)											114.0	114.0	114.0					3																	167512530		2203	4300	6503	SO:0001583	missense	5274			Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.799C>G	3.37:g.167512530C>G	ENSP00000295777:p.Leu267Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L267V	ENST00000295777.5	37	c.799	CCDS3203.1	3	.	.	.	.	.	.	.	.	.	.	C	5.043	0.193662	0.09599	.	.	ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000466979	D;D	0.85556	-2.0;-2.0	5.68	3.88	0.44766	Serpin domain (3);	0.071928	0.56097	D	0.000026	T	0.76997	0.4066	L	0.35341	1.055	0.46631	D	0.999134	B	0.19073	0.033	B	0.28011	0.085	T	0.68550	-0.5379	10	0.16896	T	0.51	.	10.9897	0.47543	0.0:0.7953:0.0:0.2047	.	267	Q99574	NEUS_HUMAN	V	267;267;15	ENSP00000397373:L267V;ENSP00000295777:L267V	ENSP00000295777:L267V	L	+	1	2	SERPINI1	168995224	0.736000	0.28164	0.889000	0.34880	0.052000	0.14988	1.485000	0.35519	1.398000	0.46701	0.591000	0.81541	CTG	SERPINI1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.453	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINI1	HGNC	protein_coding	OTTHUMT00000351056.1	C			167512530	+1	no_errors	ENST00000295777	ensembl	human	known	70_37	missense	SNP	0.982	G
SESN3	143686	genome.wustl.edu	37	11	94908718	94908718	+	Nonsense_Mutation	SNP	T	T	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:94908718T>A	ENST00000536441.1	-	9	1672	c.1336A>T	c.(1336-1338)Aga>Tga	p.R446*	RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Nonsense_Mutation_p.R307*|RP11-712B9.2_ENST00000534864.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	446					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TTTGTAGTTCTCTCAGGATAG	0.368																																																	0													170.0	159.0	163.0					11																	94908718		2201	4298	6499	SO:0001587	stop_gained	143686			AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.1336A>T	11.37:g.94908718T>A	ENSP00000441927:p.Arg446*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7P9|Q96AD1	Nonsense_Mutation	SNP	pfam_PA26	p.R446*	ENST00000536441.1	37	c.1336	CCDS8303.1	11	.	.	.	.	.	.	.	.	.	.	T	39	7.714421	0.98450	.	.	ENSG00000149212	ENST00000536441;ENST00000278499	.	.	.	5.23	2.82	0.32997	.	0.055211	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.556	13.4742	0.61299	0.0:0.0:0.5234:0.4766	.	.	.	.	X	446;307	.	ENSP00000278499:R307X	R	-	1	2	SESN3	94548366	1.000000	0.71417	0.992000	0.48379	0.418000	0.31294	2.848000	0.48278	0.403000	0.25479	0.528000	0.53228	AGA	SESN3	-	pfam_PA26		0.368	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN3	HGNC	protein_coding	OTTHUMT00000396475.3	T	NM_144665		94908718	-1	no_errors	ENST00000536441	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SETBP1	26040	genome.wustl.edu	37	18	42532104	42532104	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:42532104C>G	ENST00000282030.5	+	4	3095	c.2799C>G	c.(2797-2799)ctC>ctG	p.L933L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	933						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACGAAAGCCTCAAGAAGCCAA	0.537									Schinzel-Giedion syndrome																																								0													44.0	45.0	45.0					18																	42532104		2203	4300	6503	SO:0001819	synonymous_variant	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2799C>G	18.37:g.42532104C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	smart_AT_hook_DNA-bd_motif	p.L933	ENST00000282030.5	37	c.2799	CCDS11923.2	18																																																																																			SETBP1	-	NULL		0.537	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	C	NM_001130110		42532104	+1	no_errors	ENST00000282030	ensembl	human	known	70_37	silent	SNP	1.000	G
SETD5	55209	genome.wustl.edu	37	3	9477417	9477417	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:9477417G>C	ENST00000406341.1	+	6	584	c.394G>C	c.(394-396)Gat>Cat	p.D132H	SETD5_ENST00000402198.1_Missense_Mutation_p.D132H|SETD5_ENST00000402466.1_Missense_Mutation_p.D21H|SETD5_ENST00000302463.6_Missense_Mutation_p.D21H|SETD5_ENST00000407969.1_Missense_Mutation_p.D151H			Q9C0A6	SETD5_HUMAN	SET domain containing 5	132										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTCAGGTGGGGATAGCAGTGC	0.423																																																	0													49.0	47.0	48.0					3																	9477417		1880	4134	6014	SO:0001583	missense	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.394G>C	3.37:g.9477417G>C	ENSP00000383939:p.Asp132His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.D132H	ENST00000406341.1	37	c.394	CCDS46741.1	3	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172158	0.78452	.	.	ENSG00000168137	ENST00000450326;ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	T;D;D;D;D;T;D	0.95272	1.03;-3.41;-3.66;-3.41;-3.27;0.33;-3.66	5.27	5.27	0.74061	.	0.056508	0.64402	D	0.000001	D	0.96648	0.8906	L	0.57536	1.79	0.53005	D	0.999967	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.95;0.971	D	0.97037	0.9754	10	0.87932	D	0	-5.1009	19.2504	0.93923	0.0:0.0:1.0:0.0	.	21;132;151	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	H	132;132;21;132;151;21;21	ENSP00000413786:D132H;ENSP00000385852:D132H;ENSP00000384429:D21H;ENSP00000383939:D132H;ENSP00000384114:D151H;ENSP00000408837:D21H;ENSP00000302028:D21H	ENSP00000302028:D21H	D	+	1	0	SETD5	9452417	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.322000	0.96357	2.622000	0.88805	0.655000	0.94253	GAT	SETD5	-	NULL		0.423	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1	G	XM_371614		9477417	+1	no_errors	ENST00000402198	ensembl	human	known	70_37	missense	SNP	1.000	C
SETD6	79918	genome.wustl.edu	37	16	58550511	58550511	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:58550511C>G	ENST00000219315.4	+	4	656	c.606C>G	c.(604-606)ctC>ctG	p.L202L	SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000310682.2_Silent_p.L178L|SETD6_ENST00000394266.4_Intron			Q8TBK2	SETD6_HUMAN	SET domain containing 6	202	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						ACCCCGATCTCTTCAGCCTCA	0.602																																																	0													89.0	90.0	90.0					16																	58550511		2198	4300	6498	SO:0001819	synonymous_variant	79918			AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.606C>G	16.37:g.58550511C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K380|B5ME38|Q9H787	Silent	SNP	pfam_SET_dom,pfam_Rubisco_LSMT_subst-bd,superfamily_Rubisco_LSMT_subst-bd,pirsf_RuBisCo-cyt_methylase	p.L202	ENST00000219315.4	37	c.606	CCDS54013.1	16																																																																																			SETD6	-	pfam_SET_dom,pirsf_RuBisCo-cyt_methylase		0.602	SETD6-003	KNOWN	basic|CCDS	protein_coding	SETD6	HGNC	protein_coding	OTTHUMT00000317274.2	C	NM_024860		58550511	+1	no_errors	ENST00000219315	ensembl	human	known	70_37	silent	SNP	0.994	G
SETD9	133383	genome.wustl.edu	37	5	56212732	56212732	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:56212732C>T	ENST00000285947.2	+	0	1289				SETD9_ENST00000475908.1_3'UTR|SETD9_ENST00000541720.1_Intron	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9								methyltransferase activity (GO:0008168)										TCAGCTAACTCTGTGAATCAG	0.343																																																	0													103.0	96.0	98.0					5																	56212732		2203	4300	6503	SO:0001624	3_prime_UTR_variant	133383			BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 35"""	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.*3C>T	5.37:g.56212732C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	F5H713	RNA	SNP	-	NULL	ENST00000285947.2	37	NULL	CCDS3972.1	5																																																																																			SETD9	-	-		0.343	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD9	HGNC	protein_coding	OTTHUMT00000132304.2	C	NM_153706		56212732	+1	no_errors	ENST00000463805	ensembl	human	known	70_37	rna	SNP	0.000	T
SETD9	133383	genome.wustl.edu	37	5	56212740	56212740	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:56212740C>T	ENST00000285947.2	+	0	1297				SETD9_ENST00000475908.1_3'UTR|SETD9_ENST00000541720.1_Intron	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9								methyltransferase activity (GO:0008168)										CTCTGTGAATCAGAAATTATT	0.338																																																	0													85.0	80.0	82.0					5																	56212740		2203	4300	6503	SO:0001624	3_prime_UTR_variant	133383			BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 35"""	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.*11C>T	5.37:g.56212740C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	F5H713	RNA	SNP	-	NULL	ENST00000285947.2	37	NULL	CCDS3972.1	5																																																																																			SETD9	-	-		0.338	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD9	HGNC	protein_coding	OTTHUMT00000132304.2	C	NM_153706		56212740	+1	no_errors	ENST00000463805	ensembl	human	known	70_37	rna	SNP	0.004	T
SETMAR	6419	genome.wustl.edu	37	3	4354762	4354762	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:4354762G>A	ENST00000358065.4	+	2	404	c.337G>A	c.(337-339)Gag>Aag	p.E113K	SETMAR_ENST00000462115.1_3'UTR|SETMAR_ENST00000425863.1_Missense_Mutation_p.E113K|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.E113K	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	113	Histone-lysine N-methyltransferase.|Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		AAAGTATGCAGAGCCTGTTTT	0.488								Chromatin Structure																																									0													78.0	66.0	70.0					3																	4354762		2203	4300	6503	SO:0001583	missense	6419			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.337G>A	3.37:g.4354762G>A	ENSP00000373354:p.Glu113Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.E113K	ENST00000358065.4	37	c.337	CCDS2563.2	3	.	.	.	.	.	.	.	.	.	.	G	0.062	-1.221432	0.01530	.	.	ENSG00000170364	ENST00000358065;ENST00000430981;ENST00000425863	T;T;T	0.76316	-1.01;-1.01;-1.01	4.91	-5.44	0.02624	Pre-SET zinc-binding sub-group (1);Pre-SET domain (2);	.	.	.	.	T	0.45994	0.1370	N	0.05351	-0.065	0.09310	N	1	B;B;B	0.16603	0.018;0.008;0.0	B;B;B	0.19946	0.027;0.01;0.001	T	0.47724	-0.9095	9	0.02654	T	1	.	3.6376	0.08155	0.5311:0.2545:0.1132:0.1011	.	113;100;113	E7EN68;Q53H47;C9JHK2	.;SETMR_HUMAN;.	K	113	ENSP00000373354:E113K;ENSP00000403000:E113K;ENSP00000403145:E113K	ENSP00000373354:E113K	E	+	1	0	SETMAR	4329762	0.000000	0.05858	0.000000	0.03702	0.256000	0.26092	-0.503000	0.06383	-0.973000	0.03555	0.460000	0.39030	GAG	SETMAR	-	pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pfscan_Pre-SET_dom		0.488	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETMAR	HGNC	protein_coding	OTTHUMT00000206587.4	G	NM_006515		4354762	+1	no_errors	ENST00000358065	ensembl	human	known	70_37	missense	SNP	0.000	A
SEZ6L2	26470	genome.wustl.edu	37	16	29883600	29883600	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:29883600G>A	ENST00000308713.5	-	16	3138	c.2611C>T	c.(2611-2613)Cag>Tag	p.Q871*	SEZ6L2_ENST00000537485.1_Nonsense_Mutation_p.Q840*|SEZ6L2_ENST00000346932.5_Nonsense_Mutation_p.Q770*|SEZ6L2_ENST00000350527.3_Nonsense_Mutation_p.Q814*	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	871					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACTTTCCCTGAAGCCTGGGA	0.602																																																	0													43.0	43.0	43.0					16																	29883600		2197	4300	6497	SO:0001587	stop_gained	26470			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2611C>T	16.37:g.29883600G>A	ENSP00000312550:p.Gln871*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.Q871*	ENST00000308713.5	37	c.2611	CCDS10659.1	16	.	.	.	.	.	.	.	.	.	.	G	42	9.804959	0.99268	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	.	.	.	5.43	5.43	0.79202	.	0.000000	0.48286	D	0.000194	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	18.0122	0.89227	0.0:0.0:1.0:0.0	.	.	.	.	X	814;871;770;840	.	ENSP00000312550:Q871X	Q	-	1	0	SEZ6L2	29791101	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.522000	0.67092	2.550000	0.86006	0.655000	0.94253	CAG	SEZ6L2	-	NULL		0.602	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2	G	NM_012410		29883600	-1	no_errors	ENST00000308713	ensembl	human	known	70_37	nonsense	SNP	0.996	A
SFPQ	6421	genome.wustl.edu	37	1	35650092	35650092	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:35650092C>G	ENST00000357214.5	-	10	2187	c.2089G>C	c.(2089-2091)Gag>Cag	p.E697Q		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	697					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCTTCGTACTCTTCTCTCCCT	0.463			T	TFE3	papillary renal cell																																			Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	0													147.0	149.0	148.0					1																	35650092		2203	4300	6503	SO:0001583	missense	6421			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.2089G>C	1.37:g.35650092C>G	ENSP00000349748:p.Glu697Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	P30808|Q5SZ71	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.E697Q	ENST00000357214.5	37	c.2089	CCDS388.1	1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707387	0.68615	.	.	ENSG00000116560	ENST00000357214	T	0.26373	1.74	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.48114	0.1482	L	0.48642	1.525	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.22836	-1.0205	10	0.56958	D	0.05	-16.692	20.6244	0.99512	0.0:1.0:0.0:0.0	.	697	P23246	SFPQ_HUMAN	Q	697	ENSP00000349748:E697Q	ENSP00000349748:E697Q	E	-	1	0	SFPQ	35422679	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.686000	0.74548	2.879000	0.98667	0.650000	0.86243	GAG	SFPQ	-	NULL		0.463	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFPQ	HGNC	protein_coding	OTTHUMT00000011984.4	C	NM_005066		35650092	-1	no_errors	ENST00000357214	ensembl	human	known	70_37	missense	SNP	1.000	G
SFSWAP	6433	genome.wustl.edu	37	12	132250835	132250835	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:132250835G>C	ENST00000261674.4	+	13	2265	c.2124G>C	c.(2122-2124)gaG>gaC	p.E708D	SFSWAP_ENST00000541286.1_Missense_Mutation_p.E708D	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	708					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)	p.E708D(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AAATTGAGGAGAGTCCTTTCA	0.483																																																	1	Substitution - Missense(1)	lung(1)											153.0	160.0	158.0					12																	132250835		2203	4300	6503	SO:0001583	missense	6433			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2124G>C	12.37:g.132250835G>C	ENSP00000261674:p.Glu708Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp	p.E708D	ENST00000261674.4	37	c.2124	CCDS9273.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.301|9.301	1.053178|1.053178	0.19907|0.19907	.|.	.|.	ENSG00000061936|ENSG00000061936	ENST00000261674;ENST00000535236;ENST00000541286|ENST00000537164	T;T;T|.	0.25579|.	2.86;1.79;2.87|.	5.49|5.49	-0.195|-0.195	0.13236|0.13236	.|.	0.136248|.	0.64402|.	N|.	0.000004|.	T|T	0.31606|0.31606	0.0802|0.0802	L|L	0.31926|0.31926	0.97|0.97	0.30990|0.30990	N|N	0.721542|0.721542	B;B|.	0.14805|.	0.011;0.007|.	B;B|.	0.16722|.	0.016;0.004|.	T|T	0.39210|0.39210	-0.9625|-0.9625	10|5	0.33940|.	T|.	0.23|.	-27.4178|-27.4178	7.0715|7.0715	0.25181|0.25181	0.2818:0.0:0.5995:0.1186|0.2818:0.0:0.5995:0.1186	.|.	708;708|.	F5H6B8;Q12872|.	.;SFSWA_HUMAN|.	D|T	708;501;708|271	ENSP00000261674:E708D;ENSP00000443045:E501D;ENSP00000437738:E708D|.	ENSP00000261674:E708D|.	E|R	+|+	3|2	2|0	SFSWAP|SFSWAP	130816788|130816788	1.000000|1.000000	0.71417|0.71417	0.505000|0.505000	0.27651|0.27651	0.791000|0.791000	0.44710|0.44710	1.814000|1.814000	0.38972|0.38972	0.263000|0.263000	0.21812|0.21812	0.591000|0.591000	0.81541|0.81541	GAG|AGA	SFSWAP	-	NULL		0.483	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SFSWAP	HGNC	protein_coding	OTTHUMT00000399276.1	G	NM_004592		132250835	+1	no_errors	ENST00000261674	ensembl	human	known	70_37	missense	SNP	0.118	C
SGK1	6446	genome.wustl.edu	37	6	134498933	134498933	+	5'Flank	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:134498933C>G	ENST00000237305.7	-	0	0				SGK1_ENST00000475719.2_5'Flank|SGK1_ENST00000413996.3_5'Flank|SGK1_ENST00000528577.1_Missense_Mutation_p.E10Q|SGK1_ENST00000367858.5_Intron|SGK1_ENST00000367857.5_5'Flank	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1						apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CTACATGCCTCTGATAAGCTG	0.488																																																	0													81.0	72.0	75.0					6																	134498933		1568	3582	5150	SO:0001631	upstream_gene_variant	6446			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613		6.37:g.134498933C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.E10Q	ENST00000237305.7	37	c.28	CCDS5170.1	6	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239617	0.58995	.	.	ENSG00000118515	ENST00000528577	T	0.71934	-0.61	4.59	-1.14	0.09741	.	.	.	.	.	T	0.29061	0.0722	.	.	.	0.20196	N	0.999923	B	0.09022	0.002	B	0.04013	0.001	T	0.17289	-1.0374	8	0.32370	T	0.25	.	4.9158	0.13846	0.0:0.4531:0.296:0.251	.	10	O00141-5	.	Q	10	ENSP00000434450:E10Q	ENSP00000434450:E10Q	E	-	1	0	SGK1	134540626	0.267000	0.24122	0.050000	0.19076	0.716000	0.41182	-0.565000	0.05929	-0.283000	0.09115	0.655000	0.94253	GAG	SGK1	-	NULL		0.488	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK1	HGNC	protein_coding	OTTHUMT00000042312.2	C			134498933	-1	no_errors	ENST00000528577	ensembl	human	known	70_37	missense	SNP	0.038	G
SGSM1	129049	genome.wustl.edu	37	22	25264726	25264726	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:25264726C>G	ENST00000400359.4	+	12	1202	c.1195C>G	c.(1195-1197)Cag>Gag	p.Q399E	SGSM1_ENST00000400358.4_Missense_Mutation_p.Q399E	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	399						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCGAAGCCCTCAGGGTTCTGC	0.498																																																	0													118.0	114.0	115.0					22																	25264726		1954	4168	6122	SO:0001583	missense	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1195C>G	22.37:g.25264726C>G	ENSP00000383212:p.Gln399Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.Q399E	ENST00000400359.4	37	c.1195	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.770530	0.00645	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.30182	1.54;1.54	4.97	3.94	0.45596	.	0.254880	0.41823	D	0.000802	T	0.23846	0.0577	L	0.43923	1.385	0.42605	D	0.99329	P;B;B;P	0.49783	0.545;0.06;0.179;0.928	B;B;B;B	0.43838	0.15;0.047;0.089;0.433	T	0.10382	-1.0632	10	0.02654	T	1	4.5708	12.0022	0.53237	0.1734:0.8266:0.0:0.0	.	399;515;532;399	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	E	515;399;399	ENSP00000383211:Q399E;ENSP00000383212:Q399E	ENSP00000383211:Q399E	Q	+	1	0	SGSM1	23594726	1.000000	0.71417	0.112000	0.21494	0.002000	0.02628	5.332000	0.65911	1.216000	0.43427	-0.293000	0.09583	CAG	SGSM1	-	NULL		0.498	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	C	XM_059318		25264726	+1	no_errors	ENST00000400359	ensembl	human	known	70_37	missense	SNP	0.997	G
SGSM1	129049	genome.wustl.edu	37	22	25280109	25280109	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:25280109G>A	ENST00000400359.4	+	16	1757	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N	SGSM1_ENST00000400358.4_Missense_Mutation_p.D529N	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	584						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTTGCCCTGCGATGCTGGACA	0.577																																																	0													68.0	69.0	69.0					22																	25280109		2054	4189	6243	SO:0001583	missense	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1750G>A	22.37:g.25280109G>A	ENSP00000383212:p.Asp584Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.D584N	ENST00000400359.4	37	c.1750	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517395	0.64634	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.08102	3.13;3.13	5.24	4.22	0.49857	.	0.087083	0.85682	D	0.000000	T	0.14570	0.0352	L	0.57536	1.79	0.80722	D	1	P;D;P;D	0.61697	0.519;0.99;0.845;0.971	B;P;B;B	0.51701	0.057;0.677;0.338;0.439	T	0.01228	-1.1412	10	0.46703	T	0.11	-12.4918	8.9388	0.35718	0.0863:0.1533:0.7604:0.0	.	529;645;662;584	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	N	645;529;584	ENSP00000383211:D529N;ENSP00000383212:D584N	ENSP00000383211:D529N	D	+	1	0	SGSM1	23610109	0.975000	0.34042	0.972000	0.41901	0.863000	0.49368	4.139000	0.58024	1.332000	0.45431	-0.195000	0.12781	GAT	SGSM1	-	NULL		0.577	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	G	XM_059318		25280109	+1	no_errors	ENST00000400359	ensembl	human	known	70_37	missense	SNP	1.000	A
SGTB	54557	genome.wustl.edu	37	5	64966100	64966100	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:64966100G>A	ENST00000381007.4	-	11	1123	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	296										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		CGCTGCTGCTGAATGATCTGC	0.438																																																	0													175.0	166.0	169.0					5																	64966100		2203	4300	6503	SO:0001819	synonymous_variant	54557			AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"""Tetratricopeptide (TTC) repeat domain containing"""	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.888C>T	5.37:g.64966100G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.F296	ENST00000381007.4	37	c.888	CCDS3988.1	5																																																																																			SGTB	-	NULL		0.438	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTB	HGNC	protein_coding	OTTHUMT00000215057.2	G	NM_019072		64966100	-1	no_errors	ENST00000381007	ensembl	human	known	70_37	silent	SNP	1.000	A
SGTB	54557	genome.wustl.edu	37	5	64976529	64976529	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:64976529G>A	ENST00000381007.4	-	7	807	c.572C>T	c.(571-573)tCa>tTa	p.S191L		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	191										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TTTCAGATTTGACTTATAGGA	0.368																																																	0													190.0	193.0	192.0					5																	64976529		2203	4300	6503	SO:0001583	missense	54557			AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"""Tetratricopeptide (TTC) repeat domain containing"""	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.572C>T	5.37:g.64976529G>A	ENSP00000370395:p.Ser191Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S191L	ENST00000381007.4	37	c.572	CCDS3988.1	5	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626638	0.66901	.	.	ENSG00000197860	ENST00000381007;ENST00000506816	T;T	0.62105	0.09;0.05	5.31	5.31	0.75309	Tetratricopeptide-like helical (1);	0.137304	0.51477	D	0.000094	T	0.60830	0.2299	M	0.80183	2.485	0.58432	D	0.999999	B	0.31730	0.337	B	0.25506	0.061	T	0.60915	-0.7168	10	0.31617	T	0.26	-9.2758	12.3458	0.55119	0.0773:0.0:0.9227:0.0	.	191	Q96EQ0	SGTB_HUMAN	L	191	ENSP00000370395:S191L;ENSP00000421447:S191L	ENSP00000370395:S191L	S	-	2	0	SGTB	65012285	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.659000	0.83766	2.496000	0.84212	0.557000	0.71058	TCA	SGTB	-	NULL		0.368	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTB	HGNC	protein_coding	OTTHUMT00000215057.2	G	NM_019072		64976529	-1	no_errors	ENST00000381007	ensembl	human	known	70_37	missense	SNP	1.000	A
SH2D5	400745	genome.wustl.edu	37	1	21048338	21048338	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:21048338G>C	ENST00000444387.2	-	10	1616	c.1219C>G	c.(1219-1221)Ctc>Gtc	p.L407V	SH2D5_ENST00000375031.1_Missense_Mutation_p.L323V|SH2D5_ENST00000460804.1_5'UTR	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	407										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGGGCCGGAGAGTCCGGGGC	0.701																																																	0													12.0	15.0	14.0					1																	21048338		1857	4073	5930	SO:0001583	missense	400745			AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.1219C>G	1.37:g.21048338G>C	ENSP00000406026:p.Leu407Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3W3|Q5SSJ2	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH2	p.L407V	ENST00000444387.2	37	c.1219	CCDS44080.1	1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651325	0.47362	.	.	ENSG00000189410	ENST00000375031;ENST00000444387	.	.	.	5.01	3.02	0.34903	.	0.309256	0.20888	N	0.083872	T	0.25005	0.0607	N	0.19112	0.55	0.09310	N	1	B	0.24426	0.103	B	0.24269	0.052	T	0.12967	-1.0527	9	0.38643	T	0.18	.	6.8901	0.24224	0.0822:0.0:0.6048:0.313	.	407	Q6ZV89	SH2D5_HUMAN	V	323;407	.	ENSP00000364171:L323V	L	-	1	0	SH2D5	20920925	0.970000	0.33590	0.988000	0.46212	0.661000	0.39034	1.125000	0.31332	1.090000	0.41315	-0.311000	0.09066	CTC	SH2D5	-	NULL		0.701	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D5	HGNC	protein_coding	OTTHUMT00000007455.2	G	XM_375698		21048338	-1	no_errors	ENST00000444387	ensembl	human	known	70_37	missense	SNP	0.093	C
SH3GL1	6455	genome.wustl.edu	37	19	4362348	4362348	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:4362348G>C	ENST00000269886.3	-	9	1066	c.888C>G	c.(886-888)atC>atG	p.I296M	SH3GL1_ENST00000598564.1_Missense_Mutation_p.I232M|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Missense_Mutation_p.I248M	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	296					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TAGGGGTCCGGATGGGCTTGT	0.617			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)			Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													73.0	71.0	72.0					19																	4362348		2203	4300	6503	SO:0001583	missense	6455				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.888C>G	19.37:g.4362348G>C	ENSP00000269886:p.Ile296Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRA1|E7EVZ4|M0QZV5|Q99668	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.I296M	ENST00000269886.3	37	c.888	CCDS32874.1	19	.	.	.	.	.	.	.	.	.	.	.	8.880	0.951419	0.18431	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	T;T	0.34472	1.77;1.36	4.81	1.26	0.21427	Src homology-3 domain (1);	0.926163	0.09225	N	0.831402	T	0.21103	0.0508	N	0.19112	0.55	0.24821	N	0.992582	B;B;B	0.21225	0.053;0.007;0.007	B;B;B	0.18263	0.021;0.013;0.013	T	0.24941	-1.0146	10	0.40728	T	0.16	-8.5348	4.0428	0.09760	0.0898:0.1594:0.5862:0.1647	.	248;296;296	E7EVZ4;Q6FGM0;Q99961	.;.;SH3G1_HUMAN	M	296;248	ENSP00000269886:I296M;ENSP00000404568:I248M	ENSP00000269886:I296M	I	-	3	3	SH3GL1	4313348	0.361000	0.24972	0.597000	0.28824	0.976000	0.68499	0.434000	0.21494	0.058000	0.16222	0.561000	0.74099	ATC	SH3GL1	-	superfamily_SH3_domain		0.617	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1	HGNC	protein_coding	OTTHUMT00000458302.1	G	NM_003025		4362348	-1	no_errors	ENST00000269886	ensembl	human	known	70_37	missense	SNP	0.701	C
LRRC37B	114659	genome.wustl.edu	37	17	30367387	30367387	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:30367387G>C	ENST00000341671.7	+	7	2128				SH3GL1P1_ENST00000579186.1_RNA|LRRC37B_ENST00000327564.7_Intron|LRRC37B_ENST00000584368.1_Intron|LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000543378.2_Intron	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GAGGCGTGCAGAGGGTCACGC	0.627																																																	0																																										SO:0001627	intron_variant	6458			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2123+4729G>C	17.37:g.30367387G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RC9|Q5YKG6	RNA	SNP	-	NULL	ENST00000341671.7	37	NULL	CCDS32609.1	17																																																																																			SH3GL1P1	-	-		0.627	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1P1	HGNC	protein_coding	OTTHUMT00000446508.1	G	NM_052888		30367387	+1	no_errors	ENST00000582640	ensembl	human	known	70_37	rna	SNP	0.010	C
SH3KBP1	30011	genome.wustl.edu	37	X	19764468	19764468	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:19764468G>C	ENST00000397821.3	-	3	544	c.254C>G	c.(253-255)tCt>tGt	p.S85C	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.S48C|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.S85C	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	85					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CGTTTCAGAAGACAGCAAAGA	0.438																																																	0													129.0	122.0	124.0					X																	19764468		2203	4300	6503	SO:0001583	missense	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.254C>G	X.37:g.19764468G>C	ENSP00000380921:p.Ser85Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.S85C	ENST00000397821.3	37	c.254	CCDS14193.1	X	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268586	0.59540	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234	T;T;T;T;T	0.52754	1.35;1.46;1.25;0.99;0.65	5.84	5.84	0.93424	.	0.660669	0.16581	N	0.208183	T	0.52158	0.1717	L	0.54323	1.7	0.80722	D	1	P;P	0.51653	0.947;0.94	B;P	0.50231	0.43;0.635	T	0.54860	-0.8230	10	0.72032	D	0.01	-8.9897	9.9012	0.41348	0.0936:0.0:0.9064:0.0	.	85;48	Q96B97;Q5JPT5	SH3K1_HUMAN;.	C	26;85;48;21;85;32	ENSP00000380921:S85C;ENSP00000369020:S48C;ENSP00000369049:S21C;ENSP00000369019:S85C;ENSP00000388766:S32C	ENSP00000369019:S85C	S	-	2	0	SH3KBP1	19674389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.860000	0.55995	2.449000	0.82847	0.600000	0.82982	TCT	SH3KBP1	-	NULL		0.438	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	G	NM_031892		19764468	-1	no_errors	ENST00000397821	ensembl	human	known	70_37	missense	SNP	1.000	C
SH3TC1	54436	genome.wustl.edu	37	4	8233776	8233776	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:8233776C>G	ENST00000245105.3	+	13	3091	c.3024C>G	c.(3022-3024)atC>atG	p.I1008M	SH3TC1_ENST00000539824.1_Missense_Mutation_p.I932M	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1008										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGTGTGTCATCTACCATGAGC	0.637																																					NSCLC(145;2298 2623 35616 37297)												0													74.0	71.0	72.0					4																	8233776		2203	4300	6503	SO:0001583	missense	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3024C>G	4.37:g.8233776C>G	ENSP00000245105:p.Ile1008Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5G5	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.I1008M	ENST00000245105.3	37	c.3024	CCDS3399.1	4	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282508	0.59867	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.77229	-1.08;-1.08	4.89	4.89	0.63831	Tetratricopeptide-like helical (1);	0.422063	0.22586	N	0.058148	T	0.79656	0.4483	M	0.66939	2.045	0.32643	N	0.520486	P	0.43973	0.823	P	0.47044	0.535	D	0.84544	0.0640	10	0.44086	T	0.13	-16.0346	12.566	0.56310	0.0:0.9192:0.0:0.0808	.	1008	Q8TE82	S3TC1_HUMAN	M	746;1008;932;837	ENSP00000245105:I1008M;ENSP00000441045:I932M	ENSP00000245105:I1008M	I	+	3	3	SH3TC1	8284676	1.000000	0.71417	0.994000	0.49952	0.867000	0.49689	1.608000	0.36847	2.286000	0.76751	0.456000	0.33151	ATC	SH3TC1	-	NULL		0.637	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	C	NM_018986		8233776	+1	no_errors	ENST00000245105	ensembl	human	known	70_37	missense	SNP	1.000	G
SHH	6469	genome.wustl.edu	37	7	155604778	155604778	+	Silent	SNP	G	G	C	rs587778789		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:155604778G>C	ENST00000297261.2	-	1	189	c.39C>G	c.(37-39)gtC>gtG	p.V13V		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	13					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGCGAGGAGACGAGGACTA	0.642																																																	0													75.0	84.0	81.0					7																	155604778		2203	4300	6503	SO:0001819	synonymous_variant	6469				CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.39C>G	7.37:g.155604778G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D247|Q75MC9	Silent	SNP	pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,pfscan_Intein_splice_site,prints_Hedgehog	p.V13	ENST00000297261.2	37	c.39	CCDS5942.1	7																																																																																			SHH	-	pirsf_Hedgehog		0.642	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHH	HGNC	protein_coding	OTTHUMT00000322327.1	G	NM_000193		155604778	-1	no_errors	ENST00000297261	ensembl	human	known	70_37	silent	SNP	1.000	C
SHOC2	8036	genome.wustl.edu	37	10	112724698	112724698	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:112724698C>T	ENST00000369452.4	+	2	927	c.582C>T	c.(580-582)ctC>ctT	p.L194L	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Silent_p.L194L	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	194					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TGGATTCTCTCACCACTCTTT	0.393																																																	0													78.0	82.0	81.0					10																	112724698		2203	4299	6502	SO:0001819	synonymous_variant	8036			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.582C>T	10.37:g.112724698C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L194	ENST00000369452.4	37	c.582	CCDS7568.1	10																																																																																			SHOC2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.393	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOC2	HGNC	protein_coding	OTTHUMT00000050355.1	C	NM_007373		112724698	+1	no_errors	ENST00000369452	ensembl	human	known	70_37	silent	SNP	1.000	T
SHROOM1	134549	genome.wustl.edu	37	5	132161162	132161162	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:132161162G>C	ENST00000378679.3	-	4	1475	c.671C>G	c.(670-672)tCa>tGa	p.S224*	SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.S224*|SHROOM1_ENST00000378676.1_Nonsense_Mutation_p.S224*|SHROOM1_ENST00000488072.1_5'Flank	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	224	ASD1. {ECO:0000255|PROSITE- ProRule:PRU00637}.				actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCTGGCTCTGAGAAGCACCA	0.756																																																	0													9.0	11.0	10.0					5																	132161162		2158	4262	6420	SO:0001587	stop_gained	134549			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.671C>G	5.37:g.132161162G>C	ENSP00000367950:p.Ser224*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WP40|B7ZL01|Q8TDP0|Q8TF41	Nonsense_Mutation	SNP	pfam_ASD2,pfam_ASD1	p.S224*	ENST00000378679.3	37	c.671	CCDS54902.1	5	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166803	0.57476	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676;ENST00000440118	.	.	.	4.57	4.57	0.56435	.	0.072609	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.7457	13.5744	0.61866	0.0:0.0:1.0:0.0	.	.	.	.	X	224	.	ENSP00000324245:S224X	S	-	2	0	SHROOM1	132189061	0.998000	0.40836	0.858000	0.33744	0.018000	0.09664	3.143000	0.50608	2.473000	0.83533	0.462000	0.41574	TCA	SHROOM1	-	pfam_ASD1		0.756	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHROOM1	HGNC	protein_coding	OTTHUMT00000133033.1	G	NM_133456		132161162	-1	no_errors	ENST00000378679	ensembl	human	known	70_37	nonsense	SNP	0.977	C
LOC101928517	101928517	genome.wustl.edu	37	19	51670960	51670960	+	RNA	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:51670960C>G	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							CAACTCAACTCAAAAAGTGCA	0.557																																																	0																																												284367																															19.37:g.51670960C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000600074.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	.	6.722	0.501965	0.12822	.	.	ENSG00000171101	ENST00000305812;ENST00000341811	.	.	.	2.65	-5.31	0.02730	.	0.358469	0.15505	U	0.258812	T	0.24236	0.0587	.	.	.	.	.	.	B;B	0.22541	0.059;0.071	B;B	0.30401	0.066;0.115	T	0.13980	-1.0489	7	0.39692	T	0.17	.	2.9414	0.05831	0.345:0.2861:0.0:0.3689	.	56;82	B4DW22;Q9P0F8	.;.	E	81;56	.	ENSP00000303760:Q81E	Q	+	1	0	AC063977.1	56362772	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.734000	0.04893	-1.073000	0.03137	0.461000	0.40582	CAA	SIGLEC17P	-	-		0.557	CTD-3187F8.14-001	KNOWN	basic	antisense	SIGLEC17P	HGNC	antisense	OTTHUMT00000465635.1	C			51670960	+1	no_errors	ENST00000341811	ensembl	human	known	70_37	rna	SNP	0.000	G
SIGLEC7	27036	genome.wustl.edu	37	19	51645837	51645837	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:51645837G>C	ENST00000317643.6	+	1	280	c.211G>C	c.(211-213)Gat>Cat	p.D71H	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.D71H|SIGLEC7_ENST00000600577.1_Missense_Mutation_p.D71H	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	71	Ig-like V-type.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGCAGGGAATGATATAAGCTG	0.577																																																	0													109.0	97.0	101.0					19																	51645837		2203	4300	6503	SO:0001583	missense	27036			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.211G>C	19.37:g.51645837G>C	ENSP00000323328:p.Asp71His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D71H	ENST00000317643.6	37	c.211	CCDS12826.1	19	.	.	.	.	.	.	.	.	.	.	.	2.099	-0.406645	0.04832	.	.	ENSG00000168995	ENST00000317643;ENST00000305628;ENST00000536156	T;T;T	0.65916	-0.18;-0.18;-0.18	2.77	-5.53	0.02552	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.031540	0.03073	N	0.157427	T	0.42063	0.1186	L	0.31526	0.94	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.003	B;B;B	0.08055	0.002;0.001;0.003	T	0.12528	-1.0544	10	0.23891	T	0.37	.	1.444	0.02360	0.4217:0.2625:0.1838:0.132	.	71;71;71	Q9Y286-4;Q9Y286-2;Q9Y286	.;.;SIGL7_HUMAN	H	71	ENSP00000323328:D71H;ENSP00000306757:D71H;ENSP00000437609:D71H	ENSP00000306757:D71H	D	+	1	0	SIGLEC7	56337649	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.245000	0.01192	-2.185000	0.00761	-1.409000	0.01127	GAT	SIGLEC7	-	pfam_Ig_V-set,smart_Ig_sub		0.577	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	HGNC	protein_coding	OTTHUMT00000464226.2	G	NM_016543		51645837	+1	no_errors	ENST00000317643	ensembl	human	known	70_37	missense	SNP	0.000	C
SIGLEC5	8778	genome.wustl.edu	37	19	52115563	52115563	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:52115563G>C	ENST00000534261.2	-	10	1976	c.1577C>G	c.(1576-1578)tCt>tGt	p.S526C	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S526C|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.S526C|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S526C|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S526C			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	526					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S526Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTCATCTCAGAAAAACTAAG	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)											128.0	122.0	124.0					19																	52115563		2203	4300	6503	SO:0001583	missense	8778			U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1577C>G	19.37:g.52115563G>C	ENSP00000473238:p.Ser526Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S526C	ENST00000534261.2	37	c.1577	CCDS33088.1	19	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456687	0.26161	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.04970	3.52;3.52	3.36	-3.4	0.04853	.	.	.	.	.	T	0.04815	0.0130	L	0.29908	0.895	0.09310	N	1	D	0.54772	0.968	P	0.45195	0.473	T	0.19811	-1.0294	9	0.66056	D	0.02	.	2.8978	0.05696	0.1459:0.1027:0.4818:0.2695	.	526	O15389	SIGL5_HUMAN	C	526	ENSP00000222107:S526C;ENSP00000415200:S526C	ENSP00000222107:S526C	S	-	2	0	SIGLEC5	56807375	0.017000	0.18338	0.000000	0.03702	0.000000	0.00434	-0.155000	0.10115	-0.901000	0.03891	-1.036000	0.02392	TCT	SIGLEC5	-	NULL		0.552	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SIGLEC5	HGNC	protein_coding	OTTHUMT00000466897.2	G	NM_003830		52115563	-1	no_errors	ENST00000222107	ensembl	human	known	70_37	missense	SNP	0.000	C
SIM1	6492	genome.wustl.edu	37	6	100911253	100911253	+	Missense_Mutation	SNP	G	G	A	rs375766542		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:100911253G>A	ENST00000369208.3	-	2	874	c.92C>T	c.(91-93)tCg>tTg	p.S31L	SIM1_ENST00000262901.4_Missense_Mutation_p.S31L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	31	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.S31L(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGTGATAGCCGAGGGCAAAGG	0.458																																																	1	Substitution - Missense(1)	endometrium(1)											186.0	183.0	184.0					6																	100911253		2203	4300	6503	SO:0001583	missense	6492			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.92C>T	6.37:g.100911253G>A	ENSP00000358210:p.Ser31Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TDP7	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom	p.S31L	ENST00000369208.3	37	c.92	CCDS5045.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.548061	0.96488	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	D;D	0.97976	-4.64;-4.64	6.17	6.17	0.99709	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.95468	0.8528	N	0.24115	0.695	0.80722	D	1	P	0.52061	0.95	P	0.48030	0.564	D	0.95278	0.8383	10	0.54805	T	0.06	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	31	P81133	SIM1_HUMAN	L	31	ENSP00000358210:S31L;ENSP00000262901:S31L	ENSP00000262901:S31L	S	-	2	0	SIM1	101017974	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TCG	SIM1	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.458	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3	G	NM_005068		100911253	-1	no_errors	ENST00000262901	ensembl	human	known	70_37	missense	SNP	1.000	A
SIN3B	23309	genome.wustl.edu	37	19	16986961	16986961	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:16986961C>T	ENST00000248054.5	+	15	2709	c.2688C>T	c.(2686-2688)tcC>tcT	p.S896S	SIN3B_ENST00000595541.1_Silent_p.S486S|SIN3B_ENST00000379803.1_Silent_p.S928S					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACCTGTCCTCCCGCTGCGTCC	0.647																																																	0													40.0	32.0	35.0					19																	16986961		2200	4300	6500	SO:0001819	synonymous_variant	23309			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.2688C>T	19.37:g.16986961C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.S928	ENST00000248054.5	37	c.2784		19																																																																																			SIN3B	-	NULL		0.647	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	SIN3B	HGNC	protein_coding	OTTHUMT00000462846.1	C	NM_015260		16986961	+1	no_errors	ENST00000379803	ensembl	human	known	70_37	silent	SNP	0.950	T
SIPA1L1	26037	genome.wustl.edu	37	14	72054767	72054767	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:72054767G>A	ENST00000555818.1	+	2	526	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E60K|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E60K	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	60					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCCCCGAAGTGAAGGTTCTCA	0.507																																																	0													66.0	73.0	71.0					14																	72054767		2203	4300	6503	SO:0001583	missense	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.178G>A	14.37:g.72054767G>A	ENSP00000450832:p.Glu60Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.E60K	ENST00000555818.1	37	c.178	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960996	0.53400	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.77620	-1.11;-1.1;-1.11	5.48	5.48	0.80851	.	0.127590	0.53938	D	0.000050	T	0.81351	0.4804	L	0.48642	1.525	0.80722	D	1	B;D;B	0.62365	0.176;0.991;0.176	B;P;B	0.55999	0.07;0.789;0.07	T	0.75912	-0.3150	10	0.18276	T	0.48	-23.7861	19.7112	0.96096	0.0:0.0:1.0:0.0	.	60;60;60	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	K	60	ENSP00000370630:E60K;ENSP00000450832:E60K;ENSP00000351352:E60K	ENSP00000351352:E60K	E	+	1	0	SIPA1L1	71124520	1.000000	0.71417	0.979000	0.43373	0.622000	0.37654	7.471000	0.80985	2.722000	0.93159	0.655000	0.94253	GAA	SIPA1L1	-	NULL		0.507	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	G	NM_015556		72054767	+1	no_errors	ENST00000555818	ensembl	human	known	70_37	missense	SNP	1.000	A
SIRPA	140885	genome.wustl.edu	37	20	1902137	1902137	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:1902137G>C	ENST00000358771.4	+	3	685	c.533G>C	c.(532-534)aGa>aCa	p.R178T	SIRPA_ENST00000356025.3_Missense_Mutation_p.R178T|SIRPA_ENST00000400068.3_Missense_Mutation_p.R178T	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	178	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		TTCTCACCCAGAGACATCACC	0.592																																					GBM(155;1668 1920 5945 42733 48121)												0													74.0	71.0	72.0					20																	1902137		2203	4297	6500	SO:0001583	missense	140885			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.533G>C	20.37:g.1902137G>C	ENSP00000351621:p.Arg178Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.R178T	ENST00000358771.4	37	c.533	CCDS13022.1	20	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225854	0.39300	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02944	4.1;4.1;4.1	4.38	3.42	0.39159	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.549745	0.16084	N	0.230393	T	0.08492	0.0211	M	0.89601	3.045	0.40036	D	0.975599	P;B;P	0.47841	0.659;0.364;0.901	B;B;P	0.45506	0.382;0.063;0.483	T	0.00972	-1.1495	10	0.56958	D	0.05	.	7.5652	0.27874	0.1136:0.0:0.8864:0.0	.	158;178;178	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	T	178	ENSP00000382941:R178T;ENSP00000348307:R178T;ENSP00000351621:R178T	ENSP00000348307:R178T	R	+	2	0	SIRPA	1850137	0.570000	0.26651	0.996000	0.52242	0.172000	0.22775	1.038000	0.30254	2.466000	0.83321	0.456000	0.33151	AGA	SIRPA	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like		0.592	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIRPA	HGNC	protein_coding	OTTHUMT00000077568.2	G	NM_080792		1902137	+1	no_errors	ENST00000400068	ensembl	human	known	70_37	missense	SNP	0.995	C
SIX4	51804	genome.wustl.edu	37	14	61190355	61190355	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:61190355C>G	ENST00000216513.4	-	1	497	c.438G>C	c.(436-438)gaG>gaC	p.E146D		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	146					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TCAGCAGGCTCTCGTTGCCAC	0.682																																																	0													9.0	10.0	10.0					14																	61190355		2185	4271	6456	SO:0001583	missense	51804			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.438G>C	14.37:g.61190355C>G	ENSP00000216513:p.Glu146Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4QQH5|Q4V764	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E146D	ENST00000216513.4	37	c.438	CCDS9749.2	14	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636227	0.67130	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.94376	-3.41	3.48	3.48	0.39840	.	0.000000	0.85682	D	0.000000	D	0.94568	0.8250	L	0.55017	1.72	0.80722	D	1	D;P	0.54207	0.965;0.589	P;B	0.60949	0.881;0.417	D	0.93954	0.7234	10	0.39692	T	0.17	.	15.1462	0.72653	0.0:1.0:0.0:0.0	.	138;146	G3V2N2;Q9UIU6	.;SIX4_HUMAN	D	146;138	ENSP00000216513:E146D	ENSP00000216513:E146D	E	-	3	2	SIX4	60260108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.949000	0.49074	1.769000	0.52152	0.650000	0.86243	GAG	SIX4	-	NULL		0.682	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX4	HGNC	protein_coding	OTTHUMT00000072397.2	C			61190355	-1	no_errors	ENST00000216513	ensembl	human	known	70_37	missense	SNP	1.000	G
SIX5	147912	genome.wustl.edu	37	19	46270163	46270163	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:46270163C>G	ENST00000317578.6	-	2	1435	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA|SIX5_ENST00000560168.1_3'UTR|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	352					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		CTGGAGGCCTCGCCCAGGGCC	0.716																																																	0													4.0	5.0	5.0					19																	46270163		2029	4007	6036	SO:0001583	missense	147912			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.1054G>C	19.37:g.46270163C>G	ENSP00000316842:p.Glu352Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E352Q	ENST00000317578.6	37	c.1054	CCDS12673.1	19	.	.	.	.	.	.	.	.	.	.	c	19.02	3.746177	0.69418	.	.	ENSG00000177045	ENST00000317578	D	0.90732	-2.72	4.51	4.51	0.55191	.	0.428400	0.20548	N	0.090166	D	0.90817	0.7116	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	D	0.90639	0.4573	10	0.41790	T	0.15	-15.6909	14.6901	0.69080	0.0:1.0:0.0:0.0	.	352	Q8N196	SIX5_HUMAN	Q	352	ENSP00000316842:E352Q	ENSP00000316842:E352Q	E	-	1	0	SIX5	50962003	1.000000	0.71417	0.961000	0.40146	0.950000	0.60333	2.222000	0.42926	2.043000	0.60533	0.561000	0.74099	GAG	SIX5	-	NULL		0.716	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX5	HGNC	protein_coding	OTTHUMT00000417341.3	C	NM_175875		46270163	-1	no_errors	ENST00000317578	ensembl	human	known	70_37	missense	SNP	1.000	G
SKIL	6498	genome.wustl.edu	37	3	170079084	170079084	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:170079084C>G	ENST00000458537.3	+	1	1674	c.965C>G	c.(964-966)tCa>tGa	p.S322*	SKIL_ENST00000426052.2_Nonsense_Mutation_p.S302*|SKIL_ENST00000259119.4_Nonsense_Mutation_p.S322*|SKIL_ENST00000413427.2_Nonsense_Mutation_p.S322*	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	322					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GGCTTTGAATCAGCTAAATGG	0.388																																																	0													99.0	101.0	101.0					3																	170079084		2203	4300	6503	SO:0001587	stop_gained	6498			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.965C>G	3.37:g.170079084C>G	ENSP00000415243:p.Ser322*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGT1|B4DT50|O00464|P12756|Q07501	Nonsense_Mutation	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.S322*	ENST00000458537.3	37	c.965	CCDS33890.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.148939	0.94645	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	.	.	.	5.83	5.83	0.93111	.	0.123714	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.3231	20.1789	0.98193	0.0:1.0:0.0:0.0	.	.	.	.	X	322;302;322;322	.	ENSP00000259119:S322X	S	+	2	0	SKIL	171561778	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.487000	0.81328	2.776000	0.95493	0.644000	0.83932	TCA	SKIL	-	pfam_c-SKI_SMAD4-bd_dom,superfamily_SAND_dom-like		0.388	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIL	HGNC	protein_coding	OTTHUMT00000352351.4	C	NM_005414		170079084	+1	no_errors	ENST00000259119	ensembl	human	known	70_37	nonsense	SNP	1.000	G
SKIV2L2	23517	genome.wustl.edu	37	5	54706374	54706374	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:54706374G>C	ENST00000230640.5	+	23	2922	c.2668G>C	c.(2668-2670)Gag>Cag	p.E890Q	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.E789Q	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	890					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CCTTCTAACTGAGATGATGTT	0.363																																					Melanoma(2;92 134 23744 29976 33782)												0													192.0	172.0	179.0					5																	54706374		2203	4300	6503	SO:0001583	missense	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2668G>C	5.37:g.54706374G>C	ENSP00000230640:p.Glu890Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E890Q	ENST00000230640.5	37	c.2668	CCDS3967.1	5	.	.	.	.	.	.	.	.	.	.	G	26.6	4.758019	0.89843	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.32272	1.46;1.46	5.1	5.1	0.69264	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.75020	0.985;0.939	T	0.74665	-0.3589	10	0.87932	D	0	-16.297	18.8764	0.92338	0.0:0.0:1.0:0.0	.	789;890	F5H7E2;P42285	.;SK2L2_HUMAN	Q	890;789	ENSP00000230640:E890Q;ENSP00000442583:E789Q	ENSP00000230640:E890Q	E	+	1	0	SKIV2L2	54742131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.275000	0.95738	2.532000	0.85374	0.591000	0.81541	GAG	SKIV2L2	-	pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1		0.363	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	G			54706374	+1	no_errors	ENST00000230640	ensembl	human	known	70_37	missense	SNP	1.000	C
SKIV2L2	23517	genome.wustl.edu	37	5	54706386	54706386	+	Missense_Mutation	SNP	A	A	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:54706386A>C	ENST00000230640.5	+	23	2934	c.2680A>C	c.(2680-2682)Aat>Cat	p.N894H	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.N793H	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	894					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GATGATGTTTAATGGCCTTTT	0.363																																					Melanoma(2;92 134 23744 29976 33782)												0													204.0	183.0	191.0					5																	54706386		2203	4300	6503	SO:0001583	missense	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2680A>C	5.37:g.54706386A>C	ENSP00000230640:p.Asn894His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N894H	ENST00000230640.5	37	c.2680	CCDS3967.1	5	.	.	.	.	.	.	.	.	.	.	A	17.94	3.510899	0.64522	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.23754	1.89;1.89	5.1	5.1	0.69264	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57184	0.2036	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.72075	0.948;0.976	T	0.66693	-0.5859	10	0.72032	D	0.01	-11.9682	15.1757	0.72910	1.0:0.0:0.0:0.0	.	793;894	F5H7E2;P42285	.;SK2L2_HUMAN	H	894;793	ENSP00000230640:N894H;ENSP00000442583:N793H	ENSP00000230640:N894H	N	+	1	0	SKIV2L2	54742143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.773000	0.91762	2.047000	0.60756	0.482000	0.46254	AAT	SKIV2L2	-	pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1		0.363	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	A			54706386	+1	no_errors	ENST00000230640	ensembl	human	known	70_37	missense	SNP	1.000	C
SLAMF1	6504	genome.wustl.edu	37	1	160604405	160604405	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:160604405G>C	ENST00000302035.6	-	3	1047	c.698C>G	c.(697-699)tCa>tGa	p.S233*	SLAMF1_ENST00000355199.3_Nonsense_Mutation_p.S233*|SLAMF1_ENST00000235739.5_Nonsense_Mutation_p.S233*|SLAMF1_ENST00000538290.1_Nonsense_Mutation_p.S233*	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	233					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GTACTCACCTGAGGGGTCTGT	0.552																																																	0													93.0	87.0	89.0					1																	160604405		2203	4300	6503	SO:0001587	stop_gained	6504			U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.698C>G	1.37:g.160604405G>C	ENSP00000306190:p.Ser233*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5W172|Q9HBE8	Nonsense_Mutation	SNP	pfam_Sig_lymph_act_molc_N,pfscan_Ig-like	p.S233*	ENST00000302035.6	37	c.698	CCDS1207.1	1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831049	0.71258	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000538290;ENST00000355199	.	.	.	4.26	2.35	0.29111	.	2.980300	0.01208	N	0.007764	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	13.2728	5.8418	0.18637	0.1045:0.1962:0.6994:0.0	.	.	.	.	X	233	.	ENSP00000235739:S233X	S	-	2	0	SLAMF1	158871029	0.006000	0.16342	0.779000	0.31741	0.019000	0.09904	0.426000	0.21363	0.727000	0.32360	-0.237000	0.12165	TCA	SLAMF1	-	NULL		0.552	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF1	HGNC	protein_coding	OTTHUMT00000060454.1	G			160604405	-1	no_errors	ENST00000302035	ensembl	human	known	70_37	nonsense	SNP	0.786	C
SLAMF8	56833	genome.wustl.edu	37	1	159799975	159799975	+	Missense_Mutation	SNP	G	G	C	rs146937039		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:159799975G>C	ENST00000289707.5	+	2	509	c.360G>C	c.(358-360)aaG>aaC	p.K120N	SLAMF8_ENST00000368104.4_Intron|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	120					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TCCAGCTCAAGGTGTACGGTG	0.627																																																	0								G	ASN/LYS	1,4405	2.1+/-5.4	0,1,2202	31.0	33.0	32.0		360	-1.0	1.0	1	dbSNP_134	32	0,8600		0,0,4300	no	missense	SLAMF8	NM_020125.2	94	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	possibly-damaging	120/286	159799975	1,13005	2203	4300	6503	SO:0001583	missense	56833			AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.360G>C	1.37:g.159799975G>C	ENSP00000289707:p.Lys120Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32MC6|Q5VU15	Missense_Mutation	SNP	pfscan_Ig-like	p.K120N	ENST00000289707.5	37	c.360	CCDS1188.1	1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561526	0.27915	2.27E-4	0.0	ENSG00000158714	ENST00000289707	T	0.49139	0.79	4.55	-1.05	0.10036	.	0.376405	0.24393	N	0.038920	T	0.16685	0.0401	L	0.29908	0.895	0.80722	D	1	P	0.51791	0.948	P	0.47044	0.535	T	0.07770	-1.0755	10	0.16896	T	0.51	-6.1794	5.9816	0.19411	0.3584:0.1413:0.5003:0.0	.	120	Q9P0V8	SLAF8_HUMAN	N	120	ENSP00000289707:K120N	ENSP00000289707:K120N	K	+	3	2	SLAMF8	158066599	0.974000	0.33945	0.991000	0.47740	0.202000	0.24057	-0.197000	0.09518	-0.277000	0.09193	-1.786000	0.00637	AAG	SLAMF8	-	NULL		0.627	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF8	HGNC	protein_coding	OTTHUMT00000085983.1	G	NM_020125		159799975	+1	no_errors	ENST00000289707	ensembl	human	known	70_37	missense	SNP	0.977	C
SLAMF1	6504	genome.wustl.edu	37	1	160616718	160616718	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:160616718G>A	ENST00000302035.6	-	1	367	c.18C>T	c.(16-18)ctC>ctT	p.L6L	SLAMF1_ENST00000355199.3_Silent_p.L6L|SLAMF1_ENST00000235739.5_Silent_p.L6L|SLAMF1_ENST00000538290.1_Silent_p.L6L	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	6					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCAAGGAGAGGAGCCCCTTGG	0.557																																																	0													65.0	59.0	61.0					1																	160616718		2203	4300	6503	SO:0001819	synonymous_variant	6504			U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.18C>T	1.37:g.160616718G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5W172|Q9HBE8	Silent	SNP	pfam_Sig_lymph_act_molc_N,pfscan_Ig-like	p.L6	ENST00000302035.6	37	c.18	CCDS1207.1	1																																																																																			SLAMF1	-	pfam_Sig_lymph_act_molc_N		0.557	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF1	HGNC	protein_coding	OTTHUMT00000060454.1	G			160616718	-1	no_errors	ENST00000302035	ensembl	human	known	70_37	silent	SNP	0.000	A
SLC10A4	201780	genome.wustl.edu	37	4	48490485	48490485	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:48490485C>G	ENST00000273861.4	+	3	1062	c.843C>G	c.(841-843)ttC>ttG	p.F281L	ZAR1_ENST00000327939.4_5'Flank	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						TGGTCCTTTTCATAATGACCG	0.443																																																	0													173.0	175.0	174.0					4																	48490485		2203	4300	6503	SO:0001583	missense	201780			BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"""Solute carriers"""	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.843C>G	4.37:g.48490485C>G	ENSP00000273861:p.Phe281Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WUZ2	Missense_Mutation	SNP	pfam_BilAc/Na_symport	p.F281L	ENST00000273861.4	37	c.843	CCDS3482.1	4	.	.	.	.	.	.	.	.	.	.	C	15.95	2.985330	0.53934	.	.	ENSG00000145248	ENST00000273861	T	0.13420	2.59	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	M	0.72894	2.215	0.80722	D	1	P	0.48503	0.911	P	0.49752	0.621	T	0.00435	-1.1741	10	0.40728	T	0.16	-16.0927	20.0359	0.97557	0.0:1.0:0.0:0.0	.	281	Q96EP9	NTCP4_HUMAN	L	281	ENSP00000273861:F281L	ENSP00000273861:F281L	F	+	3	2	SLC10A4	48185242	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	4.636000	0.61339	2.805000	0.96524	0.655000	0.94253	TTC	SLC10A4	-	pfam_BilAc/Na_symport		0.443	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A4	HGNC	protein_coding	OTTHUMT00000219926.3	C	NM_152679		48490485	+1	no_errors	ENST00000273861	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC15A2	6565	genome.wustl.edu	37	3	121648193	121648193	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:121648193G>C	ENST00000489711.1	+	17	1939	c.1551G>C	c.(1549-1551)gtG>gtC	p.V517V	SLC15A2_ENST00000295605.2_Silent_p.V486V|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	517					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TGACAACCGTGAGGTTTGAAT	0.393																																																	0													156.0	147.0	150.0					3																	121648193		2203	4300	6503	SO:0001819	synonymous_variant	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1551G>C	3.37:g.121648193G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1A5|B4E2A7	Silent	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.V517	ENST00000489711.1	37	c.1551	CCDS3007.1	3																																																																																			SLC15A2	-	tigrfam_Oligopep_transport		0.393	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A2	HGNC	protein_coding	OTTHUMT00000355239.1	G	NM_021082		121648193	+1	no_errors	ENST00000489711	ensembl	human	known	70_37	silent	SNP	0.739	C
SLC16A5	9121	genome.wustl.edu	37	17	73101990	73101990	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:73101990C>T	ENST00000450736.2	+	6	1795	c.1380C>T	c.(1378-1380)cgC>cgT	p.R460R	SLC16A5_ENST00000580123.1_Silent_p.R460R|SLC16A5_ENST00000329783.4_Silent_p.R460R			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	460					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	AGTCTTCCCGCCAGCCACGTC	0.522											OREG0024726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													29.0	30.0	29.0					17																	73101990		2203	4300	6503	SO:0001819	synonymous_variant	9121			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1380C>T	17.37:g.73101990C>T		Somatic	1142	WXS	Illumina HiSeq	Phase_IV	B4E288	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.R460	ENST00000450736.2	37	c.1380	CCDS11713.1	17																																																																																			SLC16A5	-	NULL		0.522	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC16A5	HGNC	protein_coding	OTTHUMT00000445547.1	C	NM_004695		73101990	+1	no_errors	ENST00000329783	ensembl	human	known	70_37	silent	SNP	0.006	T
SLC1A7	6512	genome.wustl.edu	37	1	53600054	53600054	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:53600054C>T	ENST00000371494.4	-	2	310	c.183G>A	c.(181-183)ctG>ctA	p.L61L	SLC1A7_ENST00000371491.4_Silent_p.L61L	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	61					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		TCATCATCTTCAGCATCCTCA	0.527																																					NSCLC(128;80 1811 21245 38490 51715)												0													79.0	74.0	75.0					1																	53600054		2203	4300	6503	SO:0001819	synonymous_variant	6512			U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.183G>A	1.37:g.53600054C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVZ0|Q969Z8|Q9BW45	Silent	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.L61	ENST00000371494.4	37	c.183	CCDS574.1	1																																																																																			SLC1A7	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter		0.527	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A7	HGNC	protein_coding	OTTHUMT00000024746.1	C	NM_006671		53600054	-1	no_errors	ENST00000371494	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC22A20	440044	genome.wustl.edu	37	11	64993248	64993248	+	RNA	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:64993248C>T	ENST00000525437.1	+	0	1081							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CCGGAGCTCTCTGCCTGCAGG	0.577											OREG0020652	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												440044			DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.64993248C>T		Somatic	1080	WXS	Illumina HiSeq	Phase_IV	B9EJB2|Q6ZN88	RNA	SNP	-	NULL	ENST00000525437.1	37	NULL		11																																																																																			SLC22A20	-	-		0.577	SLC22A20-003	KNOWN	basic	processed_transcript	SLC22A20	HGNC	pseudogene	OTTHUMT00000385336.1	C	NM_001004326		64993248	+1	no_errors	ENST00000525264	ensembl	human	known	70_37	rna	SNP	0.001	T
SLC25A12	8604	genome.wustl.edu	37	2	172693632	172693632	+	Splice_Site	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:172693632G>A	ENST00000422440.2	-	6	648	c.611C>T	c.(610-612)tCa>tTa	p.S204L	SLC25A12_ENST00000392592.4_Splice_Site_p.S97L	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	204					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TTTACTTACTGAAACTAAGTT	0.383																																																	0													123.0	110.0	114.0					2																	172693632		2203	4300	6503	SO:0001630	splice_region_variant	8604			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.612+1C>T	2.37:g.172693632G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KR64|Q96AM8	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.S204L	ENST00000422440.2	37	c.611	CCDS33327.1	2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340071	0.81911	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.79352	-1.26;-1.24	6.08	6.08	0.98989	EF-hand-like domain (1);	0.128004	0.56097	D	0.000038	T	0.80121	0.4565	M	0.74881	2.28	0.80722	D	1	P;B	0.37548	0.599;0.399	B;B	0.35607	0.206;0.206	T	0.81263	-0.1012	10	0.72032	D	0.01	-9.4057	20.6647	0.99678	0.0:0.0:1.0:0.0	.	97;204	B3KR64;O75746	.;CMC1_HUMAN	L	204;97	ENSP00000388658:S204L;ENSP00000376371:S97L	ENSP00000376371:S97L	S	-	2	0	SLC25A12	172401878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.890000	0.99128	0.655000	0.94253	TCA	SLC25A12	-	NULL		0.383	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	HGNC	protein_coding	OTTHUMT00000259010.2	G	NM_003705	Missense_Mutation	172693632	-1	no_errors	ENST00000422440	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC25A30	253512	genome.wustl.edu	37	13	45971465	45971465	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:45971465C>T	ENST00000539591.1	-	8	772	c.609G>A	c.(607-609)aaG>aaA	p.K203K				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	254					mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		ACCCTTCATTCTTCCATGTCT	0.383																																																	0													60.0	61.0	60.0					13																	45971465		2203	4300	6503	SO:0001819	synonymous_variant	253512			AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032		"""Solute carriers"""	27371	protein-coding gene	gene with protein product		610793					Standard	XM_005266321		Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.609G>A	13.37:g.45971465C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN96|B4DZK3|F5H8H8	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier	p.K254	ENST00000539591.1	37	c.762		13																																																																																			SLC25A30	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.383	SLC25A30-201	KNOWN	basic	protein_coding	SLC25A30	HGNC	protein_coding		C	XM_170736		45971465	-1	no_errors	ENST00000519676	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC25A36	55186	genome.wustl.edu	37	3	140692697	140692697	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:140692697G>C	ENST00000324194.6	+	6	760	c.592G>C	c.(592-594)Gaa>Caa	p.E198Q	RP11-231L11.3_ENST00000513802.1_RNA|SLC25A36_ENST00000446041.2_Missense_Mutation_p.E198Q|SLC25A36_ENST00000453248.2_Missense_Mutation_p.E172Q			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	198					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TGTTATTTATGAAAGTATAAA	0.343																																																	0													58.0	60.0	59.0					3																	140692697		2203	4300	6503	SO:0001583	missense	55186			AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.592G>C	3.37:g.140692697G>C	ENSP00000320688:p.Glu198Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling	p.E198Q	ENST00000324194.6	37	c.592	CCDS46927.1	3	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322393	0.81580	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	D;D;D	0.83591	-1.74;-1.74;-1.74	6.01	5.13	0.70059	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92890	0.7738	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.998	D	0.94402	0.7624	10	0.87932	D	0	-14.8595	14.5298	0.67917	0.0:0.0:0.8525:0.1475	.	172;198;198	B4DL01;Q96CQ1-3;Q96CQ1	.;.;S2536_HUMAN	Q	198;198;172	ENSP00000401938:E198Q;ENSP00000320688:E198Q;ENSP00000391521:E172Q	ENSP00000320688:E198Q	E	+	1	0	SLC25A36	142175387	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	1.546000	0.49388	-0.175000	0.13238	GAA	SLC25A36	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling		0.343	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A36	HGNC	protein_coding	OTTHUMT00000359929.1	G	NM_018155		140692697	+1	no_errors	ENST00000324194	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC26A4	5172	genome.wustl.edu	37	7	107312607	107312607	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:107312607C>T	ENST00000265715.3	+	4	553	c.329C>T	c.(328-330)gCa>gTa	p.A110V		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	110					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTACTAGCTGCAGTTCCTGTC	0.388									Pendred syndrome																																								0													265.0	216.0	233.0					7																	107312607		2203	4300	6503	SO:0001583	missense	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.329C>T	7.37:g.107312607C>T	ENSP00000265715:p.Ala110Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z266|O43170	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.A110V	ENST00000265715.3	37	c.329	CCDS5746.1	7	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400022	0.83120	.	.	ENSG00000091137	ENST00000265715;ENST00000440056	D;D	0.91521	-2.86;-2.86	5.12	5.12	0.69794	.	0.138155	0.48767	D	0.000162	D	0.88966	0.6581	L	0.36672	1.1	0.80722	D	1	P	0.41188	0.741	P	0.45712	0.491	D	0.90034	0.4137	10	0.66056	D	0.02	.	15.3193	0.74109	0.0:0.8598:0.1402:0.0	.	110	O43511	S26A4_HUMAN	V	110	ENSP00000265715:A110V;ENSP00000394760:A110V	ENSP00000265715:A110V	A	+	2	0	SLC26A4	107099843	1.000000	0.71417	0.991000	0.47740	0.660000	0.38997	4.367000	0.59498	2.536000	0.85505	0.561000	0.74099	GCA	SLC26A4	-	tigrfam_SulP_transpt		0.388	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	C	NM_000441		107312607	+1	no_errors	ENST00000265715	ensembl	human	known	70_37	missense	SNP	0.998	T
SLC26A4	5172	genome.wustl.edu	37	7	107342344	107342344	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:107342344G>A	ENST00000265715.3	+	17	2100	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	SLC26A4_ENST00000544569.1_Missense_Mutation_p.E213K|SLC26A4_ENST00000541474.1_Missense_Mutation_p.E187K|SLC26A4_ENST00000543100.1_Missense_Mutation_p.E195K	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	626	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGATCTGGAGGAACTTGATAT	0.398									Pendred syndrome																																								0													116.0	113.0	114.0					7																	107342344		2203	4300	6503	SO:0001583	missense	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1876G>A	7.37:g.107342344G>A	ENSP00000265715:p.Glu626Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z266|O43170	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.E626K	ENST00000265715.3	37	c.1876	CCDS5746.1	7	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519386	0.64634	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.94828	-3.18;-3.46;-3.51;-3.53	5.89	5.89	0.94794	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.372260	0.29093	N	0.013166	D	0.88426	0.6433	N	0.08118	0	0.42635	D	0.993391	B;B;B	0.17667	0.001;0.002;0.023	B;B;B	0.24269	0.004;0.008;0.052	D	0.83383	0.0013	10	0.12766	T	0.61	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	187;213;626	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	K	626;187;213;195	ENSP00000265715:E626K;ENSP00000439743:E187K;ENSP00000437427:E213K;ENSP00000441209:E195K	ENSP00000265715:E626K	E	+	1	0	SLC26A4	107129580	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	5.136000	0.64783	2.783000	0.95769	0.655000	0.94253	GAA	SLC26A4	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt		0.398	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	G	NM_000441		107342344	+1	no_errors	ENST00000265715	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC26A7	115111	genome.wustl.edu	37	8	92375748	92375748	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:92375748G>A	ENST00000276609.3	+	13	1709	c.1470G>A	c.(1468-1470)gtG>gtA	p.V490V	SLC26A7_ENST00000309536.2_Silent_p.V490V|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Silent_p.V490V	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AATTTAAAGTGAAGACAGAAA	0.254																																																	0													68.0	76.0	73.0					8																	92375748		2193	4290	6483	SO:0001819	synonymous_variant	115111			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1470G>A	8.37:g.92375748G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.V490	ENST00000276609.3	37	c.1470	CCDS6254.1	8																																																																																			SLC26A7	-	superfamily_STAS_dom		0.254	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC26A7	HGNC	protein_coding	OTTHUMT00000377011.1	G			92375748	+1	no_errors	ENST00000309536	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC27A5	10998	genome.wustl.edu	37	19	59010559	59010559	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:59010559C>T	ENST00000263093.2	-	8	1805	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000601355.1_Missense_Mutation_p.E482K|SLC27A5_ENST00000594786.1_5'UTR	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	566					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CCCTCCACCTCGTGCGTGGAC	0.632																																																	0													84.0	74.0	78.0					19																	59010559		2203	4300	6503	SO:0001583	missense	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1696G>A	19.37:g.59010559C>T	ENSP00000263093:p.Glu566Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVP6|B4DPQ1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E566K	ENST00000263093.2	37	c.1696	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.111617	0.97291	.	.	ENSG00000083807	ENST00000263093	T	0.72394	-0.65	5.1	5.1	0.69264	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.89712	0.6794	H	0.97962	4.115	0.49130	D	0.999756	D	0.89917	1.0	D	0.97110	1.0	D	0.92982	0.6407	10	0.87932	D	0	-34.5753	14.3774	0.66886	0.0:1.0:0.0:0.0	.	566	Q9Y2P5	S27A5_HUMAN	K	566	ENSP00000263093:E566K	ENSP00000263093:E566K	E	-	1	0	SLC27A5	63702371	1.000000	0.71417	0.968000	0.41197	0.988000	0.76386	5.256000	0.65468	2.538000	0.85594	0.563000	0.77884	GAG	SLC27A5	-	pfam_AMP-dep_Synth/Lig		0.632	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	C	NM_012254		59010559	-1	no_errors	ENST00000263093	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC2A1	6513	genome.wustl.edu	37	1	43395578	43395578	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:43395578G>C	ENST00000426263.3	-	5	823	c.645C>G	c.(643-645)ctC>ctG	p.L215L	SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	215					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGCGGTTGATGAGCAGGAAGC	0.647																																																	0													86.0	84.0	85.0					1																	43395578		2203	4300	6503	SO:0001819	synonymous_variant	6513			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.645C>G	1.37:g.43395578G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt	p.L215	ENST00000426263.3	37	c.645	CCDS477.1	1																																																																																			SLC2A1	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.647	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A1	HGNC	protein_coding	OTTHUMT00000020358.2	G	NM_006516		43395578	-1	no_errors	ENST00000426263	ensembl	human	known	70_37	silent	SNP	1.000	C
SLC2A2	6514	genome.wustl.edu	37	3	170716153	170716153	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:170716153C>G	ENST00000314251.3	-	10	1282	c.1203G>C	c.(1201-1203)atG>atC	p.M401I	SLC2A2_ENST00000382808.4_Missense_Mutation_p.M282I	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	401					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	AGATGGCTATCATGCTCACAT	0.443																																																	0													52.0	54.0	53.0					3																	170716153		2203	4300	6503	SO:0001583	missense	6514			J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.1203G>C	3.37:g.170716153C>G	ENSP00000323568:p.Met401Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glc_transpt_2,tigrfam_Sugar/inositol_transpt	p.M401I	ENST00000314251.3	37	c.1203	CCDS3215.1	3	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185588	0.38609	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	T;T	0.68479	-0.33;-0.33	6.06	6.06	0.98353	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.032857	0.85682	D	0.000000	T	0.34600	0.0903	N	0.00538	-1.39	0.80722	D	1	B	0.15930	0.015	B	0.15052	0.012	T	0.52888	-0.8515	10	0.02654	T	1	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	401	P11168	GTR2_HUMAN	I	401;282	ENSP00000323568:M401I;ENSP00000372258:M282I	ENSP00000323568:M401I	M	-	3	0	SLC2A2	172198847	1.000000	0.71417	0.971000	0.41717	0.916000	0.54674	7.487000	0.81328	2.879000	0.98667	0.650000	0.86243	ATG	SLC2A2	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt		0.443	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A2	HGNC	protein_coding	OTTHUMT00000352834.1	C	NM_000340		170716153	-1	no_errors	ENST00000314251	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC2A6	11182	genome.wustl.edu	37	9	136338667	136338667	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:136338667G>A	ENST00000371899.4	-	8	1169	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	SLC2A6_ENST00000371897.4_Intron|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	364					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TCAGAGGCCTGGGGCCAAAGT	0.667																																																	0													37.0	37.0	37.0					9																	136338667		2199	4298	6497	SO:0001819	synonymous_variant	11182			AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.1092C>T	9.37:g.136338667G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.P364	ENST00000371899.4	37	c.1092	CCDS6975.1	9																																																																																			SLC2A6	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.667	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A6	HGNC	protein_coding	OTTHUMT00000054909.1	G	NM_017585		136338667	-1	no_errors	ENST00000371899	ensembl	human	known	70_37	silent	SNP	0.000	A
SLC30A4	7782	genome.wustl.edu	37	15	45814223	45814223	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:45814223C>T	ENST00000261867.4	-	2	644	c.330G>A	c.(328-330)gtG>gtA	p.V110V	HMGN2P46_ENST00000409454.1_RNA|SLC30A4_ENST00000559667.1_5'UTR	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	110					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		ACCTGGCTTTCACCTTTCTCT	0.463																																																	0													207.0	174.0	185.0					15																	45814223		2198	4298	6496	SO:0001819	synonymous_variant	7782				CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"""Solute carriers"""	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.330G>A	15.37:g.45814223C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TC39	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.V110	ENST00000261867.4	37	c.330	CCDS10125.1	15																																																																																			SLC30A4	-	NULL		0.463	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A4	HGNC	protein_coding	OTTHUMT00000254236.1	C			45814223	-1	no_errors	ENST00000261867	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC35A3	23443	genome.wustl.edu	37	1	100483336	100483336	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:100483336C>T	ENST00000370155.3	+	7	1244	c.852C>T	c.(850-852)atC>atT	p.I284I	SLC35A3_ENST00000370153.1_Silent_p.I326I|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000427993.2_Silent_p.I284I|SLC35A3_ENST00000465289.1_Intron	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	284					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		CAACATTGATCTCCTATTTTT	0.303																																					Ovarian(7;298 356 944 2149 6911)												0													66.0	67.0	66.0					1																	100483336		2202	4289	6491	SO:0001819	synonymous_variant	23443			AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"""Solute carriers"""	11023	protein-coding gene	gene with protein product		605632	"""solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"""			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.852C>T	1.37:g.100483336C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3F8|D3DT54|Q68CR2|Q9BSB7	Silent	SNP	pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_DUF250,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	p.I326	ENST00000370155.3	37	c.978	CCDS762.1	1																																																																																			SLC35A3	-	pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt		0.303	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC35A3	HGNC	protein_coding	OTTHUMT00000029783.1	C	NM_012243		100483336	+1	no_errors	ENST00000370153	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC35F5	80255	genome.wustl.edu	37	2	114513965	114513965	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:114513965G>A	ENST00000245680.2	-	1	435	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C	SLC35F5_ENST00000409342.1_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	8					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CCTGCCCCGCGATGGCGTCGT	0.731																																																	0													24.0	23.0	24.0					2																	114513965		2177	4270	6447	SO:0001583	missense	80255			AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.22C>T	2.37:g.114513965G>A	ENSP00000245680:p.Arg8Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H6P8|Q9H7D8	Missense_Mutation	SNP	pfam_DMT	p.R8C	ENST00000245680.2	37	c.22	CCDS2119.1	2	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559567	0.65538	.	.	ENSG00000115084	ENST00000245680	T	0.47177	0.85	4.84	3.9	0.45041	.	0.451895	0.18919	N	0.127536	T	0.26521	0.0648	N	0.08118	0	0.80722	D	1	P;D	0.60575	0.83;0.988	B;B	0.41299	0.116;0.353	T	0.08889	-1.0700	10	0.56958	D	0.05	-0.0129	10.5363	0.45007	0.0:0.1959:0.8041:0.0	.	8;8	B2RDY0;Q8WV83	.;S35F5_HUMAN	C	8	ENSP00000245680:R8C	ENSP00000245680:R8C	R	-	1	0	SLC35F5	114230435	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	2.391000	0.44424	2.666000	0.90696	0.655000	0.94253	CGC	SLC35F5	-	NULL		0.731	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F5	HGNC	protein_coding	OTTHUMT00000254150.1	G	NM_025181		114513965	-1	no_errors	ENST00000245680	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC47A2	146802	genome.wustl.edu	37	17	19605921	19605921	+	Missense_Mutation	SNP	G	G	C	rs143935395		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:19605921G>C	ENST00000325411.5	-	13	1319	c.1269C>G	c.(1267-1269)atC>atG	p.I423M	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000350657.5_Missense_Mutation_p.I401M	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	423					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	TACTTACACAGATGGCCTCAA	0.488																																																	0								G	MET/ILE,MET/ILE	3,4403	6.2+/-15.9	0,3,2200	117.0	89.0	99.0		1161,1269	2.1	0.7	17	dbSNP_134	99	0,8600		0,0,4300	no	missense,missense	SLC47A2	NM_001099646.1,NM_152908.3	10,10	0,3,6500	CC,CG,GG		0.0,0.0681,0.0231	benign,benign	387/567,423/603	19605921	3,13003	2203	4300	6503	SO:0001583	missense	146802			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1269C>G	17.37:g.19605921G>C	ENSP00000326671:p.Ile423Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	pfam_MATE,tigrfam_MATE	p.I423M	ENST00000325411.5	37	c.1269	CCDS11211.1	17	.	.	.	.	.	.	.	.	.	.	G	4.010	-0.000736	0.07819	6.81E-4	0.0	ENSG00000180638	ENST00000350657;ENST00000325411	T;T	0.32515	1.45;1.45	4.6	2.12	0.27331	.	0.283089	0.37178	N	0.002215	T	0.20088	0.0483	L	0.27053	0.805	0.27981	N	0.936015	B;B;B	0.21688	0.059;0.007;0.014	B;B;B	0.29353	0.062;0.038;0.101	T	0.15578	-1.0432	10	0.44086	T	0.13	-8.2679	6.2542	0.20864	0.3939:0.0:0.6061:0.0	.	387;401;423	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	M	401;423	ENSP00000338084:I401M;ENSP00000326671:I423M	ENSP00000326671:I423M	I	-	3	3	SLC47A2	19546513	0.144000	0.22641	0.665000	0.29768	0.038000	0.13279	0.354000	0.20146	0.176000	0.19873	0.462000	0.41574	ATC	SLC47A2	-	pfam_MATE,tigrfam_MATE		0.488	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	SLC47A2	HGNC	protein_coding	OTTHUMT00000132242.2	G	NM_152908		19605921	-1	no_errors	ENST00000325411	ensembl	human	known	70_37	missense	SNP	0.919	C
SLC4A1	6521	genome.wustl.edu	37	17	42337808	42337808	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:42337808C>G	ENST00000262418.6	-	6	604	c.449G>C	c.(448-450)cGa>cCa	p.R150P	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'UTR	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	150	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGCTCCTCTCGGTCCTGAGG	0.607																																																	0													49.0	47.0	48.0					17																	42337808		2203	4300	6503	SO:0001583	missense	6521				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.449G>C	17.37:g.42337808C>G	ENSP00000262418:p.Arg150Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk	p.R150P	ENST00000262418.6	37	c.449	CCDS11481.1	17	.	.	.	.	.	.	.	.	.	.	c	22.9	4.355622	0.82243	.	.	ENSG00000004939	ENST00000262418	T	0.73897	-0.79	5.38	4.41	0.53225	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.128403	0.46145	D	0.000305	D	0.88100	0.6346	M	0.91717	3.235	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.99	D	0.90289	0.4321	10	0.87932	D	0	.	13.0427	0.58908	0.0:0.9208:0.0:0.0792	rs55735880	150;150	E2RVJ0;P02730	.;B3AT_HUMAN	P	150	ENSP00000262418:R150P	ENSP00000262418:R150P	R	-	2	0	SLC4A1	39693334	0.996000	0.38824	0.988000	0.46212	0.734000	0.41952	3.355000	0.52262	1.281000	0.44480	0.462000	0.41574	CGA	SLC4A1	-	pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk		0.607	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1	HGNC	protein_coding	OTTHUMT00000346194.1	C	NM_000342		42337808	-1	no_errors	ENST00000262418	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC4A7	9497	genome.wustl.edu	37	3	27493983	27493983	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:27493983C>T	ENST00000295736.5	-	2	110	c.40G>A	c.(40-42)Gat>Aat	p.D14N	SLC4A7_ENST00000446700.1_Missense_Mutation_p.D19N|SLC4A7_ENST00000454389.1_Missense_Mutation_p.D23N|SLC4A7_ENST00000428386.1_Missense_Mutation_p.D14N|SLC4A7_ENST00000445684.1_Missense_Mutation_p.D23N|SLC4A7_ENST00000435667.2_Missense_Mutation_p.D23N|SLC4A7_ENST00000440156.1_Missense_Mutation_p.D23N|SLC4A7_ENST00000425128.2_Missense_Mutation_p.D19N|SLC4A7_ENST00000437179.1_Missense_Mutation_p.D19N|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000455077.1_Missense_Mutation_p.D19N	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	14					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	GCTTCTTCATCAGGACCCTAA	0.333																																																	0													97.0	89.0	92.0					3																	27493983		2203	4300	6503	SO:0001583	missense	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.40G>A	3.37:g.27493983C>T	ENSP00000295736:p.Asp14Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.D23N	ENST00000295736.5	37	c.67	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	C	27.3	4.823163	0.90873	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	T;T;T;D;T;D;T;D;T;T;T	0.82167	-1.45;-1.4;-1.48;-1.58;-1.34;-1.51;-1.35;-1.58;-1.41;-0.08;-1.37	5.55	5.55	0.83447	.	0.107942	0.64402	D	0.000012	D	0.91938	0.7447	M	0.84433	2.695	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.76494	0.999;0.991;0.999;0.998;0.993;0.999;0.995;0.993;0.991	D;D;D;D;D;D;D;D;D	0.81914	0.991;0.91;0.991;0.995;0.984;0.968;0.959;0.984;0.91	D	0.91706	0.5377	10	0.45353	T	0.12	.	18.2701	0.90065	0.0:1.0:0.0:0.0	.	23;19;19;23;23;19;14;14;19	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;B6DY53;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	N	14;14;23;23;19;19;19;23;23;19;14	ENSP00000295736:D14N;ENSP00000416368:D14N;ENSP00000390394:D23N;ENSP00000414797:D23N;ENSP00000394252:D19N;ENSP00000406605:D19N;ENSP00000407382:D19N;ENSP00000406804:D23N;ENSP00000395336:D23N;ENSP00000401949:D19N;ENSP00000388703:D14N	ENSP00000295736:D14N	D	-	1	0	SLC4A7	27468987	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.994000	0.63901	2.603000	0.88011	0.591000	0.81541	GAT	SLC4A7	-	NULL		0.333	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	C	NM_003615		27493983	-1	no_errors	ENST00000454389	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC6A5	9152	genome.wustl.edu	37	11	20623184	20623184	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:20623184G>A	ENST00000525748.1	+	2	786	c.513G>A	c.(511-513)ccG>ccA	p.P171P		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	171					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCGTGCTCCCGGGCAGCGTGG	0.662																																																	0													71.0	63.0	66.0					11																	20623184		2203	4300	6503	SO:0001819	synonymous_variant	9152			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.513G>A	11.37:g.20623184G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95288|Q4VAM7|Q9BX77	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.P171	ENST00000525748.1	37	c.513	CCDS7854.1	11																																																																																			SLC6A5	-	NULL		0.662	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	G	NM_004211		20623184	+1	no_errors	ENST00000525748	ensembl	human	known	70_37	silent	SNP	0.996	A
SLC6A5	9152	genome.wustl.edu	37	11	20676353	20676353	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:20676353G>C	ENST00000525748.1	+	16	2606	c.2333G>C	c.(2332-2334)gGa>gCa	p.G778A	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	778					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.G778E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GACCCCTTGGGAACCTCTTCC	0.547																																																	1	Substitution - Missense(1)	skin(1)											181.0	166.0	171.0					11																	20676353		2203	4300	6503	SO:0001583	missense	9152			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2333G>C	11.37:g.20676353G>C	ENSP00000434364:p.Gly778Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.G778A	ENST00000525748.1	37	c.2333	CCDS7854.1	11	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961716	0.74016	.	.	ENSG00000165970	ENST00000525748	T	0.74209	-0.82	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.62780	0.2456	N	0.19112	0.55	0.80722	D	1	B	0.27882	0.192	B	0.22753	0.041	T	0.56926	-0.7898	10	0.20519	T	0.43	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	778	Q9Y345	SC6A5_HUMAN	A	778	ENSP00000434364:G778A	ENSP00000434364:G778A	G	+	2	0	SLC6A5	20632929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.414000	0.97362	2.873000	0.98535	0.563000	0.77884	GGA	SLC6A5	-	NULL		0.547	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	G	NM_004211		20676353	+1	no_errors	ENST00000525748	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC5A12	159963	genome.wustl.edu	37	11	26705375	26705375	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:26705375G>T	ENST00000396005.3	-	11	1546	c.1237C>A	c.(1237-1239)Cac>Aac	p.H413N		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	413					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CACATGCCGTGAATGCTGAGG	0.512																																																	0													50.0	50.0	50.0					11																	26705375		1971	4174	6145	SO:0001583	missense	159963			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1237C>A	11.37:g.26705375G>T	ENSP00000379326:p.His413Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86UC7	Nonsense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter	p.S226*	ENST00000396005.3	37	c.677	CCDS7860.2	11	.	.	.	.	.	.	.	.	.	.	G	39	7.435965	0.98282	.	.	ENSG00000148942	ENST00000396005	D	0.87571	-2.27	5.59	5.59	0.84812	.	0.368196	0.23077	U	0.052199	T	0.81394	0.4813	N	0.20685	0.6	0.80722	D	1	B	0.14438	0.01	B	0.23018	0.043	T	0.75496	-0.3297	10	0.45353	T	0.12	.	18.353	0.90344	0.0:0.0:1.0:0.0	.	413	Q1EHB4	SC5AC_HUMAN	N	413	ENSP00000379326:H413N	ENSP00000379326:H413N	H	-	1	0	SLC5A12	26661951	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	7.683000	0.84093	2.620000	0.88729	0.655000	0.94253	CAC	SLC5A12	-	NULL		0.512	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A12	HGNC	protein_coding	OTTHUMT00000319681.1	G	NM_178498		26705375	-1	no_errors	ENST00000527405	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SLC6A8	6535	genome.wustl.edu	37	X	152958162	152958162	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:152958162C>G	ENST00000253122.5	+	5	1253				SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Intron	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8						cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GCCTGGGCCTCCCACACCTGC	0.657																																																	0																																										SO:0001627	intron_variant	6535				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.778-334C>G	X.37:g.152958162C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	RNA	SNP	-	NULL	ENST00000253122.5	37	NULL	CCDS14726.1	X	.	.	.	.	.	.	.	.	.	.	c	3.997	-0.003256	0.07773	.	.	ENSG00000130821	ENST00000328897	.	.	.	0.605	-1.02	0.10135	.	0.743246	0.10410	N	0.678081	T	0.37265	0.0997	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.40496	-0.9560	5	0.87932	D	0	.	.	.	.	.	.	.	.	A	155	.	ENSP00000329205:P155A	P	+	1	0	SLC6A8	152611356	0.068000	0.21057	0.002000	0.10522	0.202000	0.24057	1.383000	0.34385	-0.446000	0.07149	0.292000	0.19580	CCC	SLC6A8	-	-		0.657	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A8	HGNC	protein_coding	OTTHUMT00000061003.1	C			152958162	+1	no_errors	ENST00000485324	ensembl	human	known	70_37	rna	SNP	0.008	G
SLC7A10	56301	genome.wustl.edu	37	19	33703233	33703233	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:33703233G>A	ENST00000253188.4	-	5	899	c.753C>T	c.(751-753)ctC>ctT	p.L251L		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	251					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					TGACATAGTTGAGGAAGTTCC	0.637																																																	0													36.0	29.0	32.0					19																	33703233		2201	4300	6501	SO:0001819	synonymous_variant	56301			AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.753C>T	19.37:g.33703233G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE84	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.L251	ENST00000253188.4	37	c.753	CCDS12431.1	19																																																																																			SLC7A10	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1		0.637	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A10	HGNC	protein_coding	OTTHUMT00000450846.2	G	NM_019849		33703233	-1	no_errors	ENST00000253188	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC7A6OS	84138	genome.wustl.edu	37	16	68344279	68344279	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:68344279C>G	ENST00000263997.6	-	2	448	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	PRMT7_ENST00000339507.5_5'Flank|snoU13_ENST00000458872.1_RNA|PRMT7_ENST00000441236.1_5'Flank|PRMT7_ENST00000348497.4_5'Flank|PRMT7_ENST00000449359.3_5'Flank	NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	144					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		TCTCCCTCCTCGTGGACAAGG	0.602																																																	0													23.0	24.0	23.0					16																	68344279		2198	4300	6498	SO:0001583	missense	84138				CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.430G>C	16.37:g.68344279C>G	ENSP00000263997:p.Glu144Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TCZ3|Q9H8R8	Missense_Mutation	SNP	NULL	p.E144Q	ENST00000263997.6	37	c.430	CCDS10865.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.687342	0.96784	.	.	ENSG00000103061	ENST00000263997	T	0.22945	1.93	4.25	4.25	0.50352	.	0.106549	0.64402	D	0.000002	T	0.49474	0.1559	M	0.78637	2.42	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.44922	-0.9296	10	0.42905	T	0.14	-12.0395	12.5277	0.56096	0.0:1.0:0.0:0.0	.	144	Q96CW6	S7A6O_HUMAN	Q	144	ENSP00000263997:E144Q	ENSP00000263997:E144Q	E	-	1	0	SLC7A6OS	66901780	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	4.897000	0.63231	2.662000	0.90505	0.558000	0.71614	GAG	SLC7A6OS	-	NULL		0.602	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A6OS	HGNC	protein_coding	OTTHUMT00000268894.3	C	NM_032178		68344279	-1	no_errors	ENST00000263997	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC8A2	6543	genome.wustl.edu	37	19	47941204	47941204	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:47941204C>T	ENST00000236877.6	-	7	2307	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_Missense_Mutation_p.E101K|SLC8A2_ENST00000542837.1_Missense_Mutation_p.E394K	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	638	Poly-Glu.				blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)	p.E638K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TCCTCCTCCTCGGCTGTTAGC	0.562																																																	1	Substitution - Missense(1)	large_intestine(1)											107.0	106.0	106.0					19																	47941204		2203	4300	6503	SO:0001583	missense	6543			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1912G>A	19.37:g.47941204C>T	ENSP00000236877:p.Glu638Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYQ9	Missense_Mutation	SNP	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.E638K	ENST00000236877.6	37	c.1912	CCDS33065.1	19	.	.	.	.	.	.	.	.	.	.	C	8.876	0.950364	0.18431	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000539381;ENST00000542837	T;T;T	0.27890	1.64;1.64;1.64	2.54	1.5	0.22942	.	0.000000	0.64402	U	0.000003	T	0.18551	0.0445	N	0.13371	0.34	0.53005	D	0.999962	B;D	0.67145	0.006;0.996	B;P	0.48089	0.005;0.566	T	0.03566	-1.1024	10	0.13853	T	0.58	.	9.1717	0.37086	0.0:0.8807:0.0:0.1193	.	466;638	E9PGS7;Q9UPR5	.;NAC2_HUMAN	K	466;638;101;394	ENSP00000236877:E638K;ENSP00000440588:E101K;ENSP00000437536:E394K	ENSP00000236877:E638K	E	-	1	0	SLC8A2	52633016	0.932000	0.31603	0.939000	0.37840	0.678000	0.39670	2.049000	0.41288	0.649000	0.30751	-0.464000	0.05259	GAG	SLC8A2	-	tigrfam_Na_Ca_Ex		0.562	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	HGNC	protein_coding	OTTHUMT00000466997.1	C			47941204	-1	no_errors	ENST00000236877	ensembl	human	known	70_37	missense	SNP	0.997	T
SLC9A9	285195	genome.wustl.edu	37	3	143515691	143515691	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:143515691G>C	ENST00000316549.6	-	3	641	c.433C>G	c.(433-435)Cat>Gat	p.H145D		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	145					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TATCCTGCATGAAATATAATT	0.313																																																	0													50.0	56.0	54.0					3																	143515691		2203	4296	6499	SO:0001583	missense	285195			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.433C>G	3.37:g.143515691G>C	ENSP00000320246:p.His145Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.H145D	ENST00000316549.6	37	c.433	CCDS33872.1	3	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327914	0.81690	.	.	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.21031	2.03	5.45	5.45	0.79879	Cation/H+ exchanger (1);	0.163924	0.42420	D	0.000720	T	0.27866	0.0686	N	0.17474	0.49	0.53005	D	0.99996	D	0.62365	0.991	D	0.78314	0.991	T	0.02179	-1.1200	10	0.06365	T	0.9	.	18.0489	0.89341	0.0:0.0:1.0:0.0	.	145	Q8IVB4	SL9A9_HUMAN	D	145;28	ENSP00000320246:H145D	ENSP00000320246:H145D	H	-	1	0	SLC9A9	144998381	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.293000	0.72731	2.553000	0.86117	0.637000	0.83480	CAT	SLC9A9	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.313	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	HGNC	protein_coding	OTTHUMT00000354994.1	G	NM_173653		143515691	-1	no_errors	ENST00000316549	ensembl	human	known	70_37	missense	SNP	1.000	C
SLFN12L	100506736	genome.wustl.edu	37	17	33806930	33806930	+	Missense_Mutation	SNP	G	G	C	rs555535892		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:33806930G>C	ENST00000260908.7	-	2	416	c.299C>G	c.(298-300)tCt>tGt	p.S100C	RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000449046.1_Missense_Mutation_p.S131C|SLFN12L_ENST00000361112.4_Missense_Mutation_p.S129C	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	100						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						GTTACTAAAAGAATTTTCCAA	0.383													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20048	0.0		0.0	False		,,,				2504	0.0																0													161.0	147.0	151.0					17																	33806930		692	1591	2283	SO:0001583	missense	100506736			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.299C>G	17.37:g.33806930G>C	ENSP00000437635:p.Ser100Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H6G3	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.S131C	ENST00000260908.7	37	c.392	CCDS56026.1	17	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857780	0.32791	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.04970	3.54;3.64;3.52	2.38	1.31	0.21738	.	.	.	.	.	T	0.19565	0.0470	M	0.73430	2.235	0.09310	N	1	D	0.71674	0.998	D	0.71870	0.975	T	0.04737	-1.0930	9	0.87932	D	0	.	6.6879	0.23156	0.0:0.2995:0.7005:0.0	.	129	Q6IEE8-2	.	C	100;129;131	ENSP00000437635:S100C;ENSP00000354412:S129C;ENSP00000389348:S131C	ENSP00000437635:S100C	S	-	2	0	SLFN12L	30831043	0.014000	0.17966	0.005000	0.12908	0.239000	0.25481	1.166000	0.31834	0.275000	0.22094	0.205000	0.17691	TCT	SLFN12L	-	NULL		0.383	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	SLFN12L	HGNC	protein_coding	OTTHUMT00000395748.2	G	XM_496206		33806930	-1	no_errors	ENST00000449046	ensembl	human	known	70_37	missense	SNP	0.006	C
SLIT3	6586	genome.wustl.edu	37	5	168151429	168151429	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:168151429C>T	ENST00000519560.1	-	21	2750	c.2331G>A	c.(2329-2331)ctG>ctA	p.L777L	SLIT3_ENST00000404867.3_Silent_p.L777L|SLIT3_ENST00000332966.8_Silent_p.L777L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	777					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATAAGCGTCAGGTGTCGGA	0.527																																					Ovarian(29;311 847 10864 17279 24903)												0													67.0	63.0	64.0					5																	168151429		2203	4298	6501	SO:0001819	synonymous_variant	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2331G>A	5.37:g.168151429C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L777	ENST00000519560.1	37	c.2331	CCDS4369.1	5																																																																																			SLIT3	-	smart_Leu-rich_rpt_typical-subtyp		0.527	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	C	NM_003062		168151429	-1	no_errors	ENST00000519560	ensembl	human	known	70_37	silent	SNP	1.000	T
SLMAP	7871	genome.wustl.edu	37	3	57847784	57847784	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:57847784G>C	ENST00000428312.1	+	9	1031	c.937G>C	c.(937-939)Gag>Cag	p.E313Q	SLMAP_ENST00000295952.3_Missense_Mutation_p.E313Q|SLMAP_ENST00000295951.3_Missense_Mutation_p.E313Q|SLMAP_ENST00000449503.2_Missense_Mutation_p.E313Q|SLMAP_ENST00000383718.3_Missense_Mutation_p.E313Q|SLMAP_ENST00000416870.1_5'UTR			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	313					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AGCAGTTAATGAGATTAAAGA	0.303																																																	0													88.0	101.0	97.0					3																	57847784		2203	4300	6503	SO:0001583	missense	7871			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.937G>C	3.37:g.57847784G>C	ENSP00000398661:p.Glu313Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom	p.E313Q	ENST00000428312.1	37	c.937		3	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623949	0.87460	.	.	ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000383718;ENST00000428312;ENST00000449503;ENST00000465203	T;T;T;T;T	0.57595	1.44;1.44;0.39;1.41;1.46	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	M	0.68952	2.095	0.80722	D	1	B;D;P;P	0.53462	0.215;0.96;0.817;0.923	B;P;P;P	0.55667	0.151;0.611;0.529;0.781	T	0.64041	-0.6500	10	0.36615	T	0.2	-1.9897	19.6899	0.95996	0.0:0.0:1.0:0.0	.	313;313;313;313	Q14BN4-2;Q14BN4;Q14BN4-3;Q14BN4-6	.;SLMAP_HUMAN;.;.	Q	313;313;313;313;313;20	ENSP00000295951:E313Q;ENSP00000295952:E313Q;ENSP00000373224:E313Q;ENSP00000398661:E313Q;ENSP00000412945:E313Q	ENSP00000295951:E313Q	E	+	1	0	SLMAP	57822824	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.307000	0.78920	2.645000	0.89757	0.655000	0.94253	GAG	SLMAP	-	NULL		0.303	SLMAP-013	KNOWN	basic	protein_coding	SLMAP	HGNC	protein_coding	OTTHUMT00000351584.1	G	NM_007159		57847784	+1	no_errors	ENST00000428312	ensembl	human	known	70_37	missense	SNP	1.000	C
SLX4	84464	genome.wustl.edu	37	16	3639021	3639021	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:3639021C>T	ENST00000294008.3	-	12	5258	c.4618G>A	c.(4618-4620)Gaa>Aaa	p.E1540K		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1540	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCTAACCCTTCGGGCTTCTGA	0.572								Direct reversal of damage																																									0													119.0	135.0	129.0					16																	3639021		2197	4300	6497	SO:0001583	missense	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4618G>A	16.37:g.3639021C>T	ENSP00000294008:p.Glu1540Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.E1540K	ENST00000294008.3	37	c.4618	CCDS10506.2	16	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342268	0.24339	.	.	ENSG00000188827	ENST00000294008	T	0.01192	5.2	5.45	1.32	0.21799	.	0.800980	0.11478	N	0.560025	T	0.00845	0.0028	N	0.13235	0.315	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.48352	-0.9043	10	0.21540	T	0.41	.	6.8064	0.23780	0.0:0.701:0.1333:0.1656	.	1540	Q8IY92	SLX4_HUMAN	K	1540	ENSP00000294008:E1540K	ENSP00000294008:E1540K	E	-	1	0	SLX4	3579022	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.393000	0.20817	0.091000	0.17302	-1.202000	0.01658	GAA	SLX4	-	NULL		0.572	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	HGNC	protein_coding	OTTHUMT00000157301.3	C	NM_032444		3639021	-1	no_errors	ENST00000294008	ensembl	human	known	70_37	missense	SNP	0.001	T
SMARCA5	8467	genome.wustl.edu	37	4	144456044	144456044	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:144456044G>C	ENST00000283131.3	+	10	1657	c.1195G>C	c.(1195-1197)Gat>Cat	p.D399H		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	399					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AATTAAGGCTGATGTTGAAAA	0.368																																																	0													113.0	99.0	104.0					4																	144456044		2203	4300	6503	SO:0001583	missense	8467			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1195G>C	4.37:g.144456044G>C	ENSP00000283131:p.Asp399His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D399H	ENST00000283131.3	37	c.1195	CCDS3761.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.110394	0.94292	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.94687	-3.49	5.64	5.64	0.86602	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97914	0.9314	M	0.91196	3.185	0.80722	D	1	D	0.69078	0.997	D	0.71184	0.972	D	0.98287	1.0511	10	0.87932	D	0	-14.9334	20.0804	0.97772	0.0:0.0:1.0:0.0	.	399	O60264	SMCA5_HUMAN	H	399;342;342	ENSP00000283131:D399H	ENSP00000283131:D399H	D	+	1	0	SMARCA5	144675494	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.809000	0.99208	2.824000	0.97209	0.650000	0.86243	GAT	SMARCA5	-	pfam_SNF2_N		0.368	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	HGNC	protein_coding	OTTHUMT00000365077.3	G			144456044	+1	no_errors	ENST00000283131	ensembl	human	known	70_37	missense	SNP	1.000	C
SMARCA5	8467	genome.wustl.edu	37	4	144456055	144456055	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:144456055G>C	ENST00000283131.3	+	10	1668	c.1206G>C	c.(1204-1206)aaG>aaC	p.K402N		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	402					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					ATGTTGAAAAGAGTTTGCCTC	0.363																																																	0													111.0	99.0	103.0					4																	144456055		2203	4300	6503	SO:0001583	missense	8467			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1206G>C	4.37:g.144456055G>C	ENSP00000283131:p.Lys402Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K402N	ENST00000283131.3	37	c.1206	CCDS3761.1	4	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757211	0.69648	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.94000	-3.33	5.64	3.83	0.44106	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.92410	0.7591	M	0.62088	1.915	0.52099	D	0.999946	P	0.41710	0.76	P	0.46208	0.507	D	0.90856	0.4735	10	0.87932	D	0	-1.3414	8.2201	0.31537	0.3531:0.0:0.6469:0.0	.	402	O60264	SMCA5_HUMAN	N	402;345;345	ENSP00000283131:K402N	ENSP00000283131:K402N	K	+	3	2	SMARCA5	144675505	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.948000	0.29096	0.765000	0.33221	0.650000	0.86243	AAG	SMARCA5	-	pfam_SNF2_N		0.363	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	HGNC	protein_coding	OTTHUMT00000365077.3	G			144456055	+1	no_errors	ENST00000283131	ensembl	human	known	70_37	missense	SNP	1.000	C
SMARCC2	6601	genome.wustl.edu	37	12	56563372	56563372	+	Missense_Mutation	SNP	C	C	T	rs144543721	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:56563372C>T	ENST00000267064.4	-	24	2649	c.2563G>A	c.(2563-2565)Gag>Aag	p.E855K	SMARCC2_ENST00000550164.1_Missense_Mutation_p.E886K|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E886K|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Missense_Mutation_p.E886K	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	855	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.E855K(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGGTTGCCCTCGCCAATGtcc	0.597																																																	2	Substitution - Missense(2)	lung(2)						C	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	143.0	112.0	123.0		2656,2563,2656	4.9	1.0	12	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SMARCC2	NM_001130420.1,NM_003075.3,NM_139067.2	56,56,56	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	886/1153,855/1215,886/1131	56563372	2,13004	2203	4300	6503	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2563G>A	12.37:g.56563372C>T	ENSP00000267064:p.Glu855Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.E855K	ENST00000267064.4	37	c.2563	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421143	0.83559	2.27E-4	1.16E-4	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.48836	1.17;0.8;0.82;0.82	4.92	4.92	0.64577	.	0.074237	0.49916	D	0.000122	T	0.45875	0.1364	L	0.31294	0.92	0.48830	D	0.999716	P;P;P;P;P	0.51791	0.775;0.948;0.913;0.913;0.948	P;P;P;B;P	0.50231	0.635;0.539;0.635;0.429;0.539	T	0.41662	-0.9496	10	0.48119	T	0.1	-20.3049	14.0293	0.64606	0.0:1.0:0.0:0.0	.	775;886;890;855;886	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	K	886;886;886;855	ENSP00000377591:E886K;ENSP00000449396:E886K;ENSP00000302919:E886K;ENSP00000267064:E855K	ENSP00000267064:E855K	E	-	1	0	SMARCC2	54849639	0.998000	0.40836	0.998000	0.56505	0.603000	0.37013	4.811000	0.62606	2.455000	0.83008	0.561000	0.74099	GAG	SMARCC2	-	NULL		0.597	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	C			56563372	-1	no_errors	ENST00000267064	ensembl	human	known	70_37	missense	SNP	1.000	T
SMARCC2	6601	genome.wustl.edu	37	12	56563391	56563391	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:56563391C>G	ENST00000267064.4	-	24	2630	c.2544G>C	c.(2542-2544)aaG>aaC	p.K848N	SMARCC2_ENST00000550164.1_Missense_Mutation_p.K879N|SMARCC2_ENST00000347471.4_Missense_Mutation_p.K879N|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Missense_Mutation_p.K879N	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	848	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			cccgctccacctttgtcttcc	0.622																																																	0													171.0	129.0	143.0					12																	56563391		2203	4300	6503	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2544G>C	12.37:g.56563391C>G	ENSP00000267064:p.Lys848Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.K848N	ENST00000267064.4	37	c.2544	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362074	0.61403	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.52983	1.1;0.64;0.69;0.7	4.92	2.88	0.33553	.	0.147967	0.41500	D	0.000879	T	0.57388	0.2050	L	0.52905	1.665	0.37431	D	0.914022	D;P;D;P;P	0.58620	0.983;0.589;0.983;0.453;0.589	D;P;D;P;P	0.68192	0.956;0.784;0.956;0.546;0.784	T	0.58864	-0.7561	10	0.45353	T	0.12	-8.9631	7.9434	0.29971	0.0:0.7892:0.0:0.2108	.	768;879;883;848;879	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	N	879;879;879;848	ENSP00000377591:K879N;ENSP00000449396:K879N;ENSP00000302919:K879N;ENSP00000267064:K848N	ENSP00000267064:K848N	K	-	3	2	SMARCC2	54849658	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.196000	0.32198	0.485000	0.27652	0.561000	0.74099	AAG	SMARCC2	-	superfamily_Chromodomain-like		0.622	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	C			56563391	-1	no_errors	ENST00000267064	ensembl	human	known	70_37	missense	SNP	1.000	G
SMC4	10051	genome.wustl.edu	37	3	160146645	160146645	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:160146645G>A	ENST00000357388.3	+	18	3161	c.2710G>A	c.(2710-2712)Gac>Aac	p.D904N	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.D904N|SMC4_ENST00000360111.2_Missense_Mutation_p.D904N|SMC4_ENST00000462787.1_Missense_Mutation_p.D904N|SMC4_ENST00000469762.1_Missense_Mutation_p.D879N	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	904					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.D904H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGCCCAACAAGACAAACTTGA	0.378																																																	1	Substitution - Missense(1)	urinary_tract(1)											127.0	120.0	122.0					3																	160146645		2203	4300	6503	SO:0001583	missense	10051			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2710G>A	3.37:g.160146645G>A	ENSP00000349961:p.Asp904Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.D904N	ENST00000357388.3	37	c.2710	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	G	17.99	3.521987	0.64747	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.78126	-1.15;-1.15;-0.83;-1.15;-1.15	6.07	5.19	0.71726	RecF/RecN/SMC (1);	0.039653	0.85682	N	0.000000	T	0.72391	0.3454	L	0.45581	1.43	0.58432	D	0.999999	B;B;B;B	0.19331	0.016;0.0;0.035;0.002	B;B;B;B	0.24269	0.052;0.002;0.045;0.016	T	0.67185	-0.5734	10	0.30078	T	0.28	-19.3703	14.498	0.67702	0.0709:0.0:0.9291:0.0	.	904;879;879;904	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	N	904;904;879;904;904;498	ENSP00000349961:D904N;ENSP00000353225:D904N;ENSP00000417964:D879N;ENSP00000420734:D904N;ENSP00000341382:D904N	ENSP00000341382:D904N	D	+	1	0	SMC4	161629339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.782000	0.85680	1.549000	0.49425	0.655000	0.94253	GAC	SMC4	-	pfam_RecF/RecN/SMC,superfamily_Prefoldin		0.378	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	G			160146645	+1	no_errors	ENST00000344722	ensembl	human	known	70_37	missense	SNP	1.000	A
SMC6	79677	genome.wustl.edu	37	2	17888515	17888515	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:17888515G>C	ENST00000448223.2	-	18	2246	c.1977C>G	c.(1975-1977)ttC>ttG	p.F659L	SMC6_ENST00000402989.1_Missense_Mutation_p.F659L|SMC6_ENST00000381272.4_Missense_Mutation_p.F685L|SMC6_ENST00000351948.4_Missense_Mutation_p.F659L	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	659	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTCTGCTTAGGAACTTAGGTC	0.378																																																	0													135.0	136.0	136.0					2																	17888515		2203	4300	6503	SO:0001583	missense	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1977C>G	2.37:g.17888515G>C	ENSP00000404092:p.Phe659Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	NULL	p.F685L	ENST00000448223.2	37	c.2055	CCDS1690.1	2	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619598	0.46736	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.28454	2.71;2.71;2.71;2.71;1.61	6.02	1.11	0.20524	RecF/RecN/SMC (1);	0.324613	0.38111	N	0.001819	T	0.13970	0.0338	N	0.11000	0.08	0.30688	N	0.751604	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.16289	0.013;0.003;0.015	T	0.29027	-1.0025	10	0.12103	T	0.63	.	10.915	0.47131	0.4752:0.0:0.5248:0.0	.	685;685;659	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	L	659;659;685;659;685	ENSP00000404092:F659L;ENSP00000323439:F659L;ENSP00000370672:F685L;ENSP00000384539:F659L;ENSP00000408644:F685L	ENSP00000323439:F659L	F	-	3	2	SMC6	17751996	1.000000	0.71417	0.995000	0.50966	0.903000	0.53119	1.203000	0.32284	-0.071000	0.12886	-0.142000	0.14014	TTC	SMC6	-	NULL		0.378	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	HGNC	protein_coding	OTTHUMT00000207359.1	G	NM_024624		17888515	-1	no_errors	ENST00000381272	ensembl	human	known	70_37	missense	SNP	0.772	C
SMCR8	140775	genome.wustl.edu	37	17	18219287	18219287	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:18219287G>C	ENST00000406438.3	+	1	664	c.184G>C	c.(184-186)Gag>Cag	p.E62Q	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	62						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCTTATTTCCGAGTTCTCTGA	0.517																																																	0													143.0	136.0	138.0					17																	18219287		2203	4300	6503	SO:0001583	missense	140775			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.184G>C	17.37:g.18219287G>C	ENSP00000385025:p.Glu62Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	pfam_Folliculin	p.E62Q	ENST00000406438.3	37	c.184	CCDS11195.2	17	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870173	0.72065	.	.	ENSG00000176994	ENST00000406438	T	0.65916	-0.18	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.72732	0.3497	L	0.34521	1.04	0.54753	D	0.999984	D	0.89917	1.0	D	0.72625	0.978	T	0.74475	-0.3653	10	0.87932	D	0	-13.9638	20.073	0.97731	0.0:0.0:1.0:0.0	.	62	Q8TEV9	SMCR8_HUMAN	Q	62	ENSP00000385025:E62Q	ENSP00000385025:E62Q	E	+	1	0	SMCR8	18160012	1.000000	0.71417	0.968000	0.41197	0.978000	0.69477	6.226000	0.72277	2.750000	0.94351	0.655000	0.94253	GAG	SMCR8	-	NULL		0.517	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR8	HGNC	protein_coding	OTTHUMT00000132065.2	G	NM_144775		18219287	+1	no_errors	ENST00000406438	ensembl	human	known	70_37	missense	SNP	0.999	C
SMCR8	140775	genome.wustl.edu	37	17	18221437	18221437	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:18221437G>C	ENST00000406438.3	+	1	2814	c.2334G>C	c.(2332-2334)caG>caC	p.Q778H		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	778						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TGGATTTTCAGAAGTGGAAGC	0.522																																																	0													112.0	112.0	112.0					17																	18221437		2203	4300	6503	SO:0001583	missense	140775			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.2334G>C	17.37:g.18221437G>C	ENSP00000385025:p.Gln778His	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	pfam_Folliculin	p.Q778H	ENST00000406438.3	37	c.2334	CCDS11195.2	17	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993900	0.74703	.	.	ENSG00000176994	ENST00000406438	T	0.25749	1.78	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.47985	0.1475	L	0.51422	1.61	0.53688	D	0.999971	D	0.89917	1.0	D	0.73380	0.98	T	0.33007	-0.9885	10	0.56958	D	0.05	-18.4651	19.861	0.96785	0.0:0.0:1.0:0.0	.	778	Q8TEV9	SMCR8_HUMAN	H	778	ENSP00000385025:Q778H	ENSP00000385025:Q778H	Q	+	3	2	SMCR8	18162162	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.360000	0.52299	2.767000	0.95098	0.655000	0.94253	CAG	SMCR8	-	NULL		0.522	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR8	HGNC	protein_coding	OTTHUMT00000132065.2	G	NM_144775		18221437	+1	no_errors	ENST00000406438	ensembl	human	known	70_37	missense	SNP	1.000	C
CDR2	1039	genome.wustl.edu	37	16	22448669	22448669	+	5'Flank	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:22448669G>A	ENST00000569045.1	-	0	0				RRN3P3_ENST00000551766.1_RNA			Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa							cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TTCGGGCGGCGACTCGCGCTT	0.751																																																	0																																										SO:0001631	upstream_gene_variant	641298			M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850			16.37:g.22448669G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8A8|Q13977	RNA	SNP	-	NULL	ENST00000569045.1	37	NULL		16																																																																																			SMG1P1	-	-		0.751	CDR2-006	KNOWN	basic	processed_transcript	SMG1P1	HGNC	protein_coding	OTTHUMT00000430087.1	G			22448669	+1	no_errors	ENST00000446662	ensembl	human	known	70_37	rna	SNP	1.000	A
SMG6	23293	genome.wustl.edu	37	17	2196193	2196193	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:2196193C>T	ENST00000263073.6	-	5	2280	c.2230G>A	c.(2230-2232)Gat>Aat	p.D744N	SMG6_ENST00000544865.1_Missense_Mutation_p.D713N	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	744					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTCGCTGTATCACTGGCTTGC	0.453																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0													143.0	133.0	137.0					17																	2196193		2203	4300	6503	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2230G>A	17.37:g.2196193C>T	ENSP00000263073:p.Asp744Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	pfam_EST1,smart_PINc_nuc-bd	p.D744N	ENST00000263073.6	37	c.2230	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776753	0.90195	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.10763	2.84;2.84	5.26	5.26	0.73747	Telomerase activating protein Est1 (1);	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	L	0.60455	1.87	0.80722	D	1	D	0.61697	0.99	D	0.64042	0.921	T	0.00668	-1.1618	10	0.54805	T	0.06	-9.9026	18.8613	0.92273	0.0:1.0:0.0:0.0	.	744	Q86US8	EST1A_HUMAN	N	744;713	ENSP00000263073:D744N;ENSP00000443920:D713N	ENSP00000263073:D744N	D	-	1	0	SMG6	2142943	1.000000	0.71417	0.998000	0.56505	0.647000	0.38526	6.027000	0.70881	2.469000	0.83416	0.467000	0.42956	GAT	SMG6	-	NULL		0.453	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	C			2196193	-1	no_errors	ENST00000263073	ensembl	human	known	70_37	missense	SNP	1.000	T
SMG8	55181	genome.wustl.edu	37	17	57287808	57287808	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:57287808C>T	ENST00000543872.2	+	2	660	c.396C>T	c.(394-396)tcC>tcT	p.S132S	SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Silent_p.S132S|SMG8_ENST00000300917.5_Silent_p.S132S			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	132					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AGGCAGGCTCCCAGGACTACA	0.592																																																	0													43.0	42.0	42.0					17																	57287808		2203	4300	6503	SO:0001819	synonymous_variant	55181			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.396C>T	17.37:g.57287808C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	pfam_Smg8/Smg9	p.S132	ENST00000543872.2	37	c.396	CCDS11615.1	17																																																																																			SMG8	-	NULL		0.592	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	C	NM_018149		57287808	+1	no_errors	ENST00000300917	ensembl	human	known	70_37	silent	SNP	0.905	T
SMIM2	79024	genome.wustl.edu	37	13	44734786	44734786	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:44734786C>G	ENST00000400419.1	-	2	394	c.206G>C	c.(205-207)aGa>aCa	p.R69T	SMIM2-IT1_ENST00000415082.1_RNA|SMIM2-AS1_ENST00000437867.1_RNA	NM_024058.2	NP_076963.1	Q9BVW6	SMIM2_HUMAN	small integral membrane protein 2	69						integral component of membrane (GO:0016021)											GCATTGCCTTCTGCTCTGCTG	0.498																																																	0																																										SO:0001583	missense	79024			BC000868	CCDS61320.1	13q14.11	2012-07-11	2012-07-11	2012-07-11	ENSG00000139656	ENSG00000139656			28776	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 44"""	C13orf44		12477932	Standard	NM_024058		Approved	MGC5590		Q9BVW6	OTTHUMG00000016831	ENST00000400419.1:c.206G>C	13.37:g.44734786C>G	ENSP00000383270:p.Arg69Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SZS7	Missense_Mutation	SNP	NULL	p.R69T	ENST00000400419.1	37	c.206		13	.	.	.	.	.	.	.	.	.	.	C	5.829	0.337178	0.11013	.	.	ENSG00000139656	ENST00000400419	.	.	.	4.58	2.82	0.32997	.	.	.	.	.	T	0.48466	0.1501	.	.	.	.	.	.	.	.	.	.	.	.	T	0.59547	-0.7434	4	0.87932	D	0	.	5.8167	0.18495	0.189:0.7139:0.0:0.097	.	.	.	.	T	69	.	ENSP00000383270:R69T	R	-	2	0	RP11-478K15.4	43632786	0.993000	0.37304	0.974000	0.42286	0.013000	0.08279	0.507000	0.22675	0.828000	0.34709	-0.137000	0.14449	AGA	SMIM2	-	NULL		0.498	SMIM2-001	KNOWN	basic|appris_principal	protein_coding	SMIM2	HGNC	protein_coding	OTTHUMT00000044734.2	C			44734786	-1	no_errors	ENST00000400419	ensembl	human	known	70_37	missense	SNP	0.984	G
SMPD1	6609	genome.wustl.edu	37	11	6412652	6412652	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:6412652C>G	ENST00000342245.4	+	2	525	c.357C>G	c.(355-357)atC>atG	p.I119M	SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000356761.2_Missense_Mutation_p.I119M|SMPD1_ENST00000299397.3_Missense_Mutation_p.I119M|SMPD1_ENST00000527275.1_Missense_Mutation_p.I118M	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	117	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	CCGTGGCCATCAAGCTGTGCA	0.582																																																	0													76.0	61.0	66.0					11																	6412652		2201	4296	6497	SO:0001583	missense	6609			AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.357C>G	11.37:g.6412652C>G	ENSP00000340409:p.Ile119Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB	p.I119M	ENST00000342245.4	37	c.357	CCDS44531.1	11	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914587	0.33815	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	D;D;D;D	0.96011	-3.88;-3.88;-3.88;-3.88	5.11	1.92	0.25849	Saposin-like (2);Saposin B (2);	0.612663	0.16730	N	0.201888	D	0.93249	0.7849	L	0.40543	1.245	0.09310	N	1	P;P;P	0.50710	0.694;0.938;0.736	B;P;B	0.53988	0.246;0.739;0.332	D	0.85573	0.1235	10	0.30078	T	0.28	-6.3732	5.4507	0.16563	0.0:0.5392:0.2741:0.1867	.	118;119;117	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	M	119;119;119;118	ENSP00000299397:I119M;ENSP00000349203:I119M;ENSP00000340409:I119M;ENSP00000435350:I118M	ENSP00000299397:I119M	I	+	3	3	SMPD1	6369228	0.000000	0.05858	0.974000	0.42286	0.833000	0.47200	-0.270000	0.08584	1.146000	0.42352	0.650000	0.86243	ATC	SMPD1	-	superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB		0.582	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPD1	HGNC	protein_coding	OTTHUMT00000384205.1	C	NM_000543		6412652	+1	no_errors	ENST00000342245	ensembl	human	known	70_37	missense	SNP	0.047	G
SMTNL1	219537	genome.wustl.edu	37	11	57310724	57310724	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:57310724G>A	ENST00000399154.2	+	2	538				SMTNL1_ENST00000527972.1_Silent_p.Q203Q|SMTNL1_ENST00000457912.1_Silent_p.Q221Q			A8MU46	SMTL1_HUMAN	smoothelin-like 1						negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CTGAATCGCAGAAGGCTGTTG	0.552																																																	0													53.0	58.0	56.0					11																	57310724		2087	4204	6291	SO:0001627	intron_variant	219537			BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.539-8G>A	11.37:g.57310724G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.Q221	ENST00000399154.2	37	c.663		11																																																																																			SMTNL1	-	NULL		0.552	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	SMTNL1	HGNC	protein_coding		G	XM_166203		57310724	+1	no_errors	ENST00000457912	ensembl	human	known	70_37	silent	SNP	0.000	A
SMTNL1	219537	genome.wustl.edu	37	11	57310740	57310740	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:57310740G>C	ENST00000399154.2	+	2	547	c.547G>C	c.(547-549)Gat>Cat	p.D183H	SMTNL1_ENST00000527972.1_Missense_Mutation_p.D209H|SMTNL1_ENST00000457912.1_Missense_Mutation_p.D227H			A8MU46	SMTL1_HUMAN	smoothelin-like 1	183	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TGTTGTGGAGGATGAGGCTAA	0.552																																																	0													51.0	55.0	54.0					11																	57310740		2087	4210	6297	SO:0001583	missense	219537			BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.547G>C	11.37:g.57310740G>C	ENSP00000382108:p.Asp183His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.D227H	ENST00000399154.2	37	c.679		11	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871770	0.33069	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	T;T;T	0.02812	4.15;4.15;4.15	4.97	4.97	0.65823	.	0.725457	0.10775	U	0.635501	T	0.03520	0.0101	L	0.27053	0.805	0.09310	N	1	B	0.30406	0.278	B	0.24974	0.057	T	0.43637	-0.9379	10	0.59425	D	0.04	0.002	15.6966	0.77506	0.0:0.0:1.0:0.0	.	227	C9J621	.	H	227;209;183	ENSP00000406485:D227H;ENSP00000432651:D209H;ENSP00000382108:D183H	ENSP00000382108:D183H	D	+	1	0	SMTNL1	57067316	0.192000	0.23301	0.004000	0.12327	0.005000	0.04900	1.603000	0.36794	2.304000	0.77564	0.563000	0.77884	GAT	SMTNL1	-	NULL		0.552	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	SMTNL1	HGNC	protein_coding		G	XM_166203		57310740	+1	no_errors	ENST00000457912	ensembl	human	known	70_37	missense	SNP	0.010	C
SMURF2	64750	genome.wustl.edu	37	17	62542010	62542010	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:62542010G>C	ENST00000262435.9	-	19	2390	c.2203C>G	c.(2203-2205)Ctg>Gtg	p.L735V		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	735	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			GCTGTTAGCAGCTTTTCATAT	0.373																																																	0													182.0	178.0	179.0					17																	62542010		2203	4300	6503	SO:0001583	missense	64750			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.2203C>G	17.37:g.62542010G>C	ENSP00000262435:p.Leu735Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LL1|Q9H260	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.L735V	ENST00000262435.9	37	c.2203	CCDS32707.1	17	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828810	0.50845	.	.	ENSG00000108854	ENST00000262435	D	0.82893	-1.66	5.42	4.44	0.53790	HECT (4);	0.000000	0.64402	D	0.000001	D	0.92061	0.7484	M	0.92268	3.29	0.80722	D	1	D	0.69078	0.997	D	0.91635	0.999	D	0.92885	0.6326	10	0.87932	D	0	.	10.6915	0.45872	0.1469:0.0:0.8531:0.0	.	735	Q9HAU4	SMUF2_HUMAN	V	735	ENSP00000262435:L735V	ENSP00000262435:L735V	L	-	1	2	SMURF2	59972472	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.449000	0.44935	2.538000	0.85594	0.561000	0.74099	CTG	SMURF2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.373	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMURF2	HGNC	protein_coding	OTTHUMT00000445227.1	G	NM_022739		62542010	-1	no_errors	ENST00000262435	ensembl	human	known	70_37	missense	SNP	1.000	C
JMJD4	65094	genome.wustl.edu	37	1	227921486	227921486	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:227921486C>G	ENST00000366758.3	-	4	692				JMJD4_ENST00000438896.2_Intron|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000366759.4_5'Flank|SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000315781.5_5'Flank	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				GCCCCTTGGTCTCAAGGGATG	0.657																																																	0																																										SO:0001627	intron_variant	116841			AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.693-104G>C	1.37:g.227921486C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TBZ1|Q5TBZ6|Q9H970	RNA	SNP	-	NULL	ENST00000366758.3	37	NULL	CCDS1561.1	1																																																																																			SNAP47	-	-		0.657	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNAP47	HGNC	protein_coding	OTTHUMT00000091970.1	C	NM_023007		227921486	+1	no_errors	ENST00000480265	ensembl	human	known	70_37	rna	SNP	0.000	G
SND1	27044	genome.wustl.edu	37	7	127343372	127343372	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:127343372C>T	ENST00000354725.3	+	7	1029	c.835C>T	c.(835-837)Cat>Tat	p.H279Y		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	279	TNase-like 2. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TACCATCCTTCATCCAGTGAG	0.468																																																	0													71.0	63.0	66.0					7																	127343372		2203	4300	6503	SO:0001583	missense	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.835C>T	7.37:g.127343372C>T	ENSP00000346762:p.His279Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13122|Q96AG0	Missense_Mutation	SNP	pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease	p.H279Y	ENST00000354725.3	37	c.835	CCDS34747.1	7	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027807	0.93518	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.28895	1.59	6.07	6.07	0.98685	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.44030	0.1274	L	0.50993	1.605	0.80722	D	1	P	0.49862	0.929	P	0.53912	0.737	T	0.02581	-1.1138	10	0.30854	T	0.27	-18.43	18.1532	0.89682	0.0:1.0:0.0:0.0	.	279	Q7KZF4	SND1_HUMAN	Y	279;269	ENSP00000346762:H279Y	ENSP00000346762:H279Y	H	+	1	0	SND1	127130608	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.554000	0.82212	2.885000	0.99019	0.655000	0.94253	CAT	SND1	-	pfam_Staphylococcal_nuclease,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease		0.468	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	C	NM_014390		127343372	+1	no_errors	ENST00000354725	ensembl	human	known	70_37	missense	SNP	1.000	T
SNED1	25992	genome.wustl.edu	37	2	241969734	241969734	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:241969734G>C	ENST00000310397.8	+	2	247	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Missense_Mutation_p.E83Q|SNED1_ENST00000401884.1_Missense_Mutation_p.E83Q|SNED1_ENST00000405547.3_Missense_Mutation_p.E83Q	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	83					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CTTCCTGAAGGAGGTTTCTCA	0.637																																																	0													33.0	38.0	36.0					2																	241969734		2059	4193	6252	SO:0001583	missense	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.247G>C	2.37:g.241969734G>C	ENSP00000308893:p.Glu83Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.E83Q	ENST00000310397.8	37	c.247	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504872	0.85176	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.16	5.16	0.70880	.	.	.	.	.	D	0.82282	0.5003	L	0.41906	1.305	0.40158	D	0.977034	D	0.89917	1.0	D	0.87578	0.998	D	0.84758	0.0760	9	0.87932	D	0	.	18.6535	0.91440	0.0:0.0:1.0:0.0	.	83	Q8TER0	SNED1_HUMAN	Q	83	ENSP00000384871:E83Q;ENSP00000386007:E83Q;ENSP00000308893:E83Q;ENSP00000342992:E83Q	ENSP00000308893:E83Q	E	+	1	0	SNED1	241618407	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.506000	0.81665	2.404000	0.81709	0.655000	0.94253	GAG	SNED1	-	NULL		0.637	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	G	XM_059482		241969734	+1	no_errors	ENST00000310397	ensembl	human	known	70_37	missense	SNP	1.000	C
SNHG11	128439	genome.wustl.edu	37	20	37075540	37075540	+	RNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:37075540G>A	ENST00000365032.1	+	0	0				SNORA60_ENST00000362396.1_RNA					small nucleolar RNA host gene 11 (non-protein coding)																		CTGAGGCCCCGAGGGGAGTGG	0.701																																																	0																																												128439			AF497716		20q11.23	2012-10-16	2008-09-05	2008-04-16	ENSG00000174365	ENSG00000174365		"""Long non-coding RNAs"""	25046	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 101"""		"""chromosome 20 open reading frame 198"""	C20orf198		12477932	Standard	NR_003239		Approved	LINC00101	uc002xis.1		OTTHUMG00000032449		20.37:g.37075540G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000365032.1	37	NULL		20																																																																																			SNHG11	-	-		0.701	SNHG11-201	KNOWN	basic	snoRNA	SNHG11	HGNC	processed_transcript		G	NR_003239		37075540	+1	no_errors	ENST00000359074	ensembl	human	known	70_37	rna	SNP	0.000	A
SNHG5	387066	genome.wustl.edu	37	6	86387171	86387171	+	RNA	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:86387171G>C	ENST00000384338.1	-	0	0				SNHG5_ENST00000364995.1_RNA	NR_002743.2				small nucleolar RNA host gene 5 (non-protein coding)																		GAACTTCCAAGACAATCTGGC	0.393																																																	0																																												387066			BC009220		6q14.3	2012-10-19	2008-08-14	2006-07-31	ENSG00000203875	ENSG00000203875		"""Long non-coding RNAs"", ""-"""	21026	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 44"", ""long intergenic non-protein coding RNA 44"""	613263	"""chromosome 6 open reading frame 160"""	C6orf160		10792466	Standard	NR_003038		Approved	MGC16362, bA33E24.2, U50HG, NCRNA00044, LINC00044	uc003plb.4		OTTHUMG00000015144		6.37:g.86387171G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000384338.1	37	NULL		6																																																																																			SNHG5	-	-		0.393	SNHG5-202	KNOWN	basic	snoRNA	SNHG5	HGNC	processed_transcript		G	NR_003038		86387171	-1	no_errors	ENST00000369605	ensembl	human	known	70_37	rna	SNP	0.000	C
RPL27A	6157	genome.wustl.edu	37	11	8707066	8707066	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:8707066C>T	ENST00000314138.6	+	5	721				RPL27A_ENST00000526562.1_Intron|RPL27A_ENST00000524496.1_Intron|SNORA3_ENST00000364113.1_RNA|RPL27A_ENST00000530022.1_Intron|RPL27A_ENST00000530913.1_Intron|SNORA45_ENST00000391305.1_RNA|RPL27A_ENST00000532359.1_Intron	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN	ribosomal protein L27a						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGTCTTGATTCACTGGTGGGG	0.522																																																	0													105.0	100.0	101.0					11																	8707066		874	1987	2861	SO:0001627	intron_variant	677826			U14968	CCDS7790.1	11p15	2011-04-06				ENSG00000166441		"""L ribosomal proteins"""	10329	protein-coding gene	gene with protein product		603637				7772601, 9582194	Standard	NM_000990		Approved	L27A	uc001mgs.4	P46776		ENST00000314138.6:c.319-159C>T	11.37:g.8707066C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4B3	RNA	SNP	-	NULL	ENST00000314138.6	37	NULL	CCDS7790.1	11																																																																																			SNORA45	-	-		0.522	RPL27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORA45	HGNC	protein_coding	OTTHUMT00000386506.1	C	NM_000990		8707066	+1	no_errors	ENST00000391305	ensembl	human	known	70_37	rna	SNP	1.000	T
NOP56	10528	genome.wustl.edu	37	20	2635760	2635760	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:2635760G>C	ENST00000329276.5	+	5	1085				SNORA51_ENST00000606420.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD57_ENST00000448188.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD110_ENST00000408189.1_RNA|SNORD56_ENST00000413522.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein						cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TGACTGTATAGAAAGAGGAGG	0.512																																																	0													94.0	90.0	91.0					20																	2635760		876	1991	2867	SO:0001627	intron_variant	677831			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.569+167G>C	20.37:g.2635760G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3T6|Q9NQ05	RNA	SNP	-	NULL	ENST00000329276.5	37	NULL	CCDS13030.1	20																																																																																			SNORA51	-	-		0.512	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORA51	HGNC	protein_coding	OTTHUMT00000077631.2	G	NM_006392		2635760	+1	no_errors	ENST00000384696	ensembl	human	known	70_37	rna	SNP	1.000	C
METTL12	751071	genome.wustl.edu	37	11	62433026	62433026	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:62433026C>T	ENST00000532971.1	+	2	24				C11orf48_ENST00000525675.1_5'Flank|RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000524958.1_5'Flank|C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000431002.2_Intron|METTL12_ENST00000398922.2_Intron|C11orf48_ENST00000532208.1_Intron|SNORA57_ENST00000383870.1_RNA	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12							mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GTTCTATCCTCAAACGCCGGG	0.602																																																	0													16.0	17.0	17.0					11																	62433026		875	1990	2865	SO:0001627	intron_variant	692158			BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.-233-93C>T	11.37:g.62433026C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4C1	RNA	SNP	-	NULL	ENST00000532971.1	37	NULL	CCDS41657.1	11																																																																																			SNORA57	-	-		0.602	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORA57	HGNC	protein_coding	OTTHUMT00000394990.1	C	NM_001043229		62433026	+1	no_errors	ENST00000383870	ensembl	human	known	70_37	rna	SNP	0.998	T
RPL12	6136	genome.wustl.edu	37	9	130210804	130210804	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:130210804G>C	ENST00000361436.5	-	5	380				RPL12_ENST00000536368.1_Intron|LRSAM1_ENST00000323301.4_5'Flank|SNORA65_ENST00000364432.1_RNA|RPL12_ENST00000497322.1_Intron|LRSAM1_ENST00000373324.4_5'Flank|LRSAM1_ENST00000300417.6_5'Flank	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						TTTCGGCACAGAGTCATCCAC	0.473																																																	0													122.0	108.0	112.0					9																	130210804		876	1991	2867	SO:0001627	intron_variant	26783				CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"""L ribosomal proteins"""	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.293-102C>G	9.37:g.130210804G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVV2|Q6PB27	RNA	SNP	-	NULL	ENST00000361436.5	37	NULL	CCDS6872.1	9																																																																																			SNORA65	-	-		0.473	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORA65	HGNC	protein_coding	OTTHUMT00000054189.1	G			130210804	-1	no_errors	ENST00000364432	ensembl	human	known	70_37	rna	SNP	1.000	C
SNHG24	101929369	genome.wustl.edu	37	14	101447404	101447404	+	lincRNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:101447404G>A	ENST00000554693.2	+	0	635				SNORD113_ENST00000364840.1_RNA|SNORD114-23_ENST00000363536.1_RNA|SNORD114-20_ENST00000365178.1_RNA|SNORD113_ENST00000364166.1_RNA|SNORD114-21_ENST00000606412.1_RNA|SNORD114-22_ENST00000365423.1_RNA																							CTGGAACTCTGAGGTCTGTCA	0.418																																																	0													201.0	190.0	193.0					14																	101447404		876	1991	2867			767598																															14.37:g.101447404G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000554693.2	37	NULL		14																																																																																			SNORD114-20	-	-		0.418	RP11-909M7.3-001	KNOWN	basic	lincRNA	SNORD114-20	HGNC	lincRNA	OTTHUMT00000468646.1	G			101447404	+1	no_errors	ENST00000365178	ensembl	human	known	70_37	rna	SNP	0.894	A
SNORD3C	780853	genome.wustl.edu	37	17	19091539	19091539	+	lincRNA	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:19091539G>C	ENST00000362428.1	-	0	432				SNORD3A_ENST00000365494.1_lincRNA					small nucleolar RNA, C/D box 3C																		aacgcggtctgagtggtTTTT	0.547																																																	0													6.0	2.0	4.0					17																	19091539		717	960	1677			780851					17p11.2	2013-09-05			ENSG00000199298	ENSG00000264940			33191	non-coding RNA	RNA, small nucleolar						9365252	Standard	NR_006881		Approved	U3-3					17.37:g.19091539G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000362428.1	37	NULL		17																																																																																			SNORD3A	-	-		0.547	SNORD3C-201	KNOWN	basic	snoRNA	SNORD3A	HGNC	lincRNA		G	NR_006881		19091539	+1	no_errors	ENST00000365494	ensembl	human	known	70_37	rna	SNP	0.714	C
SNRPA1	6627	genome.wustl.edu	37	15	101835311	101835311	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:101835311C>T	ENST00000254193.6	-	1	145	c.73G>A	c.(73-75)Gac>Aac	p.D25N	RP11-299G20.2_ENST00000558838.1_RNA|SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	25					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCCGGAGGTCCAGCTCCCGG	0.711																																																	0													5.0	5.0	5.0					15																	101835311		2056	4055	6111	SO:0001583	missense	6627			AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876			11152	protein-coding gene	gene with protein product		603521				2928112	Standard	NM_003090		Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.73G>A	15.37:g.101835311C>T	ENSP00000254193:p.Asp25Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5I6|Q8TBD2	Missense_Mutation	SNP	smart_U2A'_phosphoprotein32A_C	p.D25N	ENST00000254193.6	37	c.73	CCDS10391.1	15	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028679	0.75390	.	.	ENSG00000131876	ENST00000254193;ENST00000540017;ENST00000394082	T	0.62639	0.01	4.4	3.48	0.39840	.	0.120272	0.53938	D	0.000048	T	0.57504	0.2058	L	0.41492	1.28	0.58432	D	0.999997	P	0.38195	0.622	P	0.46208	0.507	T	0.51044	-0.8755	10	0.27082	T	0.32	-12.3116	9.7814	0.40651	0.0:0.9028:0.0:0.0972	.	25	P09661	RU2A_HUMAN	N	25	ENSP00000254193:D25N	ENSP00000254193:D25N	D	-	1	0	SNRPA1	99652834	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.856000	0.62932	0.946000	0.37632	0.655000	0.94253	GAC	SNRPA1	-	NULL		0.711	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPA1	HGNC	protein_coding	OTTHUMT00000313621.2	C	NM_003090		101835311	-1	no_errors	ENST00000254193	ensembl	human	known	70_37	missense	SNP	1.000	T
SNTB1	6641	genome.wustl.edu	37	8	121644796	121644796	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:121644796G>C	ENST00000395601.3	-	4	1298	c.884C>G	c.(883-885)tCc>tGc	p.S295C	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.S295C	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	295	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			ATTAACGTTGGAATGGATGGC	0.547																																																	0													123.0	105.0	111.0					8																	121644796		2203	4300	6503	SO:0001583	missense	6641			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.884C>G	8.37:g.121644796G>C	ENSP00000378965:p.Ser295Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.S295C	ENST00000395601.3	37	c.884	CCDS6334.1	8	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526445	0.85600	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.58060	0.36;0.36	6.03	4.18	0.49190	Pleckstrin homology domain (2);	0.382683	0.33040	N	0.005360	T	0.61739	0.2371	L	0.58810	1.83	0.80722	D	1	D;B	0.53462	0.96;0.003	P;B	0.51999	0.687;0.006	T	0.68484	-0.5396	10	0.72032	D	0.01	.	17.0434	0.86495	0.0:0.2385:0.7615:0.0	.	295;295	Q13884;Q13884-2	SNTB1_HUMAN;.	C	295	ENSP00000378965:S295C;ENSP00000431124:S295C	ENSP00000378965:S295C	S	-	2	0	SNTB1	121713977	1.000000	0.71417	0.993000	0.49108	0.929000	0.56500	6.241000	0.72369	1.561000	0.49584	0.555000	0.69702	TCC	SNTB1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.547	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB1	HGNC	protein_coding	OTTHUMT00000381535.1	G	NM_021021		121644796	-1	no_errors	ENST00000395601	ensembl	human	known	70_37	missense	SNP	0.999	C
SNTG2	54221	genome.wustl.edu	37	2	1251136	1251136	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:1251136G>A	ENST00000308624.5	+	12	1055	c.926G>A	c.(925-927)gGa>gAa	p.G309E	SNTG2_ENST00000407292.1_Missense_Mutation_p.G182E	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	309	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAACTCCAAGGAGCTGACTCC	0.498																																																	0													62.0	64.0	64.0					2																	1251136		2035	4200	6235	SO:0001583	missense	54221			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.926G>A	2.37:g.1251136G>A	ENSP00000311837:p.Gly309Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G309E	ENST00000308624.5	37	c.926	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	G	9.696	1.153269	0.21371	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.68331	1.18;-0.32	5.47	3.68	0.42216	Pleckstrin homology domain (1);	0.852754	0.10492	N	0.668348	T	0.67970	0.2950	L	0.46157	1.445	0.51012	D	0.999904	D;P	0.58620	0.983;0.949	P;P	0.54544	0.755;0.476	T	0.56980	-0.7889	10	0.10377	T	0.69	.	11.1766	0.48603	0.1508:0.0:0.8492:0.0	.	182;309	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	E	309;182	ENSP00000311837:G309E;ENSP00000385020:G182E	ENSP00000311837:G309E	G	+	2	0	SNTG2	1233687	1.000000	0.71417	0.030000	0.17652	0.036000	0.12997	3.614000	0.54160	0.671000	0.31185	0.650000	0.86243	GGA	SNTG2	-	NULL		0.498	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	G	NM_018968		1251136	+1	no_errors	ENST00000308624	ensembl	human	known	70_37	missense	SNP	0.949	A
SNX11	29916	genome.wustl.edu	37	17	46198670	46198670	+	Missense_Mutation	SNP	G	G	C	rs371948730		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:46198670G>C	ENST00000393405.2	+	8	967	c.613G>C	c.(613-615)Gaa>Caa	p.E205Q	SNX11_ENST00000580219.1_Missense_Mutation_p.E197Q|SNX11_ENST00000582104.1_Missense_Mutation_p.E197Q|SNX11_ENST00000359238.2_Missense_Mutation_p.E205Q|SNX11_ENST00000452859.2_Missense_Mutation_p.E61Q|SNX11_ENST00000439357.2_Missense_Mutation_p.E144Q	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	205					intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						GGACCATTTAGAAGTGTGGGC	0.507																																																	0								G	GLN/GLU,GLN/GLU	1,4405	2.1+/-5.4	0,1,2202	144.0	138.0	140.0		613,613	4.1	0.0	17		140	0,8600		0,0,4300	no	missense,missense	SNX11	NM_013323.2,NM_152244.1	29,29	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	benign,benign	205/271,205/271	46198670	1,13005	2203	4300	6503	SO:0001583	missense	29916			AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"""Sorting nexins"""	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.613G>C	17.37:g.46198670G>C	ENSP00000377059:p.Glu205Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.E205Q	ENST00000393405.2	37	c.613	CCDS11526.1	17	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500280	0.44455	2.27E-4	0.0	ENSG00000002919	ENST00000452859;ENST00000393405;ENST00000439357;ENST00000359238	T;T	0.68181	-0.31;-0.31	6.16	4.11	0.48088	.	0.463601	0.20480	N	0.091505	T	0.55924	0.1951	L	0.47716	1.5	0.09310	N	1	B;B;B	0.27498	0.148;0.18;0.18	B;B;B	0.22601	0.04;0.04;0.04	T	0.54022	-0.8355	10	0.62326	D	0.03	-24.2969	7.9517	0.30019	0.0807:0.0:0.761:0.1583	.	144;197;205	B4DKH7;B4DPY5;Q9Y5W9	.;.;SNX11_HUMAN	Q	61;205;144;205	ENSP00000377059:E205Q;ENSP00000352175:E205Q	ENSP00000352175:E205Q	E	+	1	0	SNX11	43553669	0.145000	0.22656	0.024000	0.17045	0.830000	0.47004	2.108000	0.41854	1.616000	0.50265	0.650000	0.86243	GAA	SNX11	-	NULL		0.507	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX11	HGNC	protein_coding	OTTHUMT00000443423.1	G			46198670	+1	no_errors	ENST00000359238	ensembl	human	known	70_37	missense	SNP	0.002	C
SNX3	8724	genome.wustl.edu	37	6	108582039	108582039	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:108582039G>A	ENST00000230085.8	-	1	425	c.87C>T	c.(85-87)ctC>ctT	p.L29L	SNX3_ENST00000368982.4_Silent_p.L29L|SNX3_ENST00000426155.2_Silent_p.L29L|SNX3_ENST00000349379.5_Silent_p.L29L	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN	sorting nexin 3	29	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				hemoglobin biosynthetic process (GO:0042541)|intracellular protein transport (GO:0006886)|intralumenal vesicle formation (GO:0070676)|membrane invagination (GO:0010324)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein transport (GO:0051224)|negative regulation of viral entry into host cell (GO:0046597)|regulation of cellular protein metabolic process (GO:0032268)|regulation of intracellular protein transport (GO:0033157)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein phosphatase binding (GO:0019903)			large_intestine(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)		CATCGATCTCGAGGAAGTTGC	0.632																																																	0													58.0	63.0	61.0					6																	108582039		2203	4300	6503	SO:0001819	synonymous_variant	8724			AF034546	CCDS5064.1, CCDS5065.1, CCDS75501.1	6q21	2010-08-05			ENSG00000112335	ENSG00000112335		"""Sorting nexins"""	11174	protein-coding gene	gene with protein product		605930				9819414	Standard	XM_005267192		Approved	Grd19	uc003psh.3	O60493	OTTHUMG00000015323	ENST00000230085.8:c.87C>T	6.37:g.108582039G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0B1|E1P5E4|E1P5E5|O60718|Q4TT29|Q4TT31|Q5JXJ7|Q5JXJ8|Q96AP9|Q9C0J5|Q9NU45	Silent	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.L29	ENST00000230085.8	37	c.87	CCDS5064.1	6																																																																																			SNX3	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.632	SNX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX3	HGNC	protein_coding	OTTHUMT00000041717.1	G			108582039	-1	no_errors	ENST00000230085	ensembl	human	known	70_37	silent	SNP	0.741	A
SNX32	254122	genome.wustl.edu	37	11	65618550	65618550	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:65618550G>C	ENST00000308342.6	+	7	1053	c.628G>C	c.(628-630)Gag>Cag	p.E210Q		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	210					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CTTTGAGCATGAGAGGACCTT	0.612																																																	0													146.0	138.0	141.0					11																	65618550		2201	4297	6498	SO:0001583	missense	254122			AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.628G>C	11.37:g.65618550G>C	ENSP00000310620:p.Glu210Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IW53|Q96NG4	Missense_Mutation	SNP	pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.E210Q	ENST00000308342.6	37	c.628	CCDS8113.2	11	.	.	.	.	.	.	.	.	.	.	G	15.85	2.956103	0.53293	.	.	ENSG00000172803	ENST00000308342	T	0.29917	1.55	4.22	1.31	0.21738	Vps5 C-terminal (1);	0.378221	0.22584	N	0.058171	T	0.37433	0.1003	M	0.73962	2.25	0.33913	D	0.639982	P	0.48089	0.905	P	0.48873	0.593	T	0.50389	-0.8834	10	0.45353	T	0.12	-21.3779	7.5847	0.27985	0.2938:0.0:0.7062:0.0	.	210	Q86XE0	SNX32_HUMAN	Q	210	ENSP00000310620:E210Q	ENSP00000310620:E210Q	E	+	1	0	SNX32	65375126	1.000000	0.71417	0.398000	0.26321	0.998000	0.95712	4.845000	0.62853	0.095000	0.17434	0.655000	0.94253	GAG	SNX32	-	pfam_Vps5_C,pirsf_Snx5_Snx6		0.612	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX32	HGNC	protein_coding	OTTHUMT00000250295.3	G	NM_152760		65618550	+1	no_errors	ENST00000308342	ensembl	human	known	70_37	missense	SNP	0.947	C
SOCS4	122809	genome.wustl.edu	37	14	55510564	55510564	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:55510564G>C	ENST00000395472.2	+	2	1137	c.805G>C	c.(805-807)Gat>Cat	p.D269H	SOCS4_ENST00000339298.2_Missense_Mutation_p.D269H|SOCS4_ENST00000555846.1_Missense_Mutation_p.D269H	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	269					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						CACGCAGATTGATTATGTCCA	0.433																																																	0													137.0	119.0	125.0					14																	55510564		2203	4300	6503	SO:0001583	missense	122809			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.805G>C	14.37:g.55510564G>C	ENSP00000378855:p.Asp269His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.D269H	ENST00000395472.2	37	c.805	CCDS9722.1	14	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377297	0.61735	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.41758	0.99;0.99;0.99	5.87	5.87	0.94306	SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.65873	0.2733	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64253	-0.6451	10	0.54805	T	0.06	-20.524	20.207	0.98280	0.0:0.0:1.0:0.0	.	269	Q8WXH5	SOCS4_HUMAN	H	269	ENSP00000378855:D269H;ENSP00000452522:D269H;ENSP00000341327:D269H	ENSP00000341327:D269H	D	+	1	0	SOCS4	54580317	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	9.864000	0.99589	2.765000	0.95021	0.650000	0.86243	GAT	SOCS4	-	NULL		0.433	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	G			55510564	+1	no_errors	ENST00000339298	ensembl	human	known	70_37	missense	SNP	1.000	C
SOCS7	30837	genome.wustl.edu	37	17	36521234	36521234	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:36521234G>A	ENST00000577233.1	+	4	1002	c.1002G>A	c.(1000-1002)ccG>ccA	p.P334P	SOCS7_ENST00000331159.5_Intron	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	334	Mediates interaction with SORBS3.				fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					TTGTGGCTCCGATGGGGTCTT	0.512																																																	0													122.0	109.0	114.0					17																	36521234		2203	4300	6503	SO:0001819	synonymous_variant	30837			AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	29846	protein-coding gene	gene with protein product	"""Nck, Ash and phospholipase C binding protein"", ""NCK-associated protein 4"""	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.1002G>A	17.37:g.36521234G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2VCU2|Q0IJ63	Silent	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.P334	ENST00000577233.1	37	c.1002	CCDS32637.1	17																																																																																			SOCS7	-	NULL		0.512	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS7	HGNC	protein_coding	OTTHUMT00000440486.4	G	XM_371052		36521234	+1	no_errors	ENST00000577233	ensembl	human	known	70_37	silent	SNP	1.000	A
SORBS1	10580	genome.wustl.edu	37	10	97096727	97096727	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:97096727G>A	ENST00000361941.3	-	28	3216	c.3190C>T	c.(3190-3192)Cta>Tta	p.L1064L	SORBS1_ENST00000371247.2_Silent_p.L1064L|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371227.4_Silent_p.L1018L|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000347291.4_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GTAGGTGCTAGGGAGTAGGTT	0.567																																																	0													158.0	143.0	148.0					10																	97096727		2203	4300	6503	SO:0001819	synonymous_variant	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3190C>T	10.37:g.97096727G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.L1064	ENST00000361941.3	37	c.3190	CCDS31255.1	10																																																																																			SORBS1	-	NULL		0.567	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	G			97096727	-1	no_errors	ENST00000361941	ensembl	human	known	70_37	silent	SNP	0.000	A
SOS2	6655	genome.wustl.edu	37	14	50626635	50626635	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:50626635C>T	ENST00000216373.5	-	10	1640	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.E423K	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	456	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATATGCCGTTCATGTTTGGCA	0.393																																																	0													192.0	180.0	184.0					14																	50626635		2203	4300	6503	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1366G>A	14.37:g.50626635C>T	ENSP00000216373:p.Glu456Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E456K	ENST00000216373.5	37	c.1366	CCDS9697.1	14	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871015	0.91587	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.88431	-2.38;-2.38	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.044427	0.85682	D	0.000000	D	0.94745	0.8304	M	0.81497	2.545	0.80722	D	1	D;D;D	0.67145	0.996;0.992;0.992	D;P;P	0.70227	0.968;0.871;0.871	D	0.94999	0.8141	10	0.87932	D	0	.	19.5267	0.95209	0.0:1.0:0.0:0.0	.	423;486;456	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	K	456;423	ENSP00000216373:E456K;ENSP00000445328:E423K	ENSP00000216373:E456K	E	-	1	0	SOS2	49696385	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.745000	0.85046	2.612000	0.88384	0.650000	0.86243	GAA	SOS2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.393	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	C			50626635	-1	no_errors	ENST00000216373	ensembl	human	known	70_37	missense	SNP	1.000	T
SOX11	6664	genome.wustl.edu	37	2	5833067	5833067	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:5833067C>G	ENST00000322002.3	+	1	269	c.214C>G	c.(214-216)Ccg>Gcg	p.P72A	AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	72					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GGAGCAGTCTCCGGACATGCA	0.597																																																	0													69.0	63.0	65.0					2																	5833067		2203	4300	6503	SO:0001583	missense	6664				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.214C>G	2.37:g.5833067C>G	ENSP00000322568:p.Pro72Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4ZFV8	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily	p.P72A	ENST00000322002.3	37	c.214	CCDS1654.1	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168844	0.78339	.	.	ENSG00000176887	ENST00000322002	D	0.99652	-6.3	3.16	3.16	0.36331	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000005	D	0.99680	0.9880	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97412	1.0003	10	0.87932	D	0	.	14.6126	0.68526	0.0:1.0:0.0:0.0	.	72	P35716	SOX11_HUMAN	A	72	ENSP00000322568:P72A	ENSP00000322568:P72A	P	+	1	0	SOX11	5750518	1.000000	0.71417	0.890000	0.34922	0.940000	0.58332	7.435000	0.80391	1.453000	0.47775	0.478000	0.44815	CCG	SOX11	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily		0.597	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	HGNC	protein_coding	OTTHUMT00000206698.1	C	NM_003108		5833067	+1	no_errors	ENST00000322002	ensembl	human	known	70_37	missense	SNP	1.000	G
SOX13	9580	genome.wustl.edu	37	1	204086775	204086775	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:204086775C>G	ENST00000367204.1	+	7	824	c.715C>G	c.(715-717)Ctg>Gtg	p.L239V	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	239	Pro-rich.				anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CCACCAACCTCTGCCTGTCAC	0.582																																																	0													51.0	59.0	57.0					1																	204086775		2082	4213	6295	SO:0001583	missense	9580				CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.715C>G	1.37:g.204086775C>G	ENSP00000356172:p.Leu239Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.L239V	ENST00000367204.1	37	c.715	CCDS44299.1	1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277533	0.40294	.	.	ENSG00000143842	ENST00000367204	D	0.98701	-5.08	5.06	2.92	0.33932	.	0.156015	0.41938	D	0.000787	D	0.97213	0.9089	M	0.66439	2.03	0.25838	N	0.984089	B;B;B;P	0.51351	0.376;0.376;0.376;0.944	B;B;B;P	0.45276	0.061;0.061;0.097;0.475	D	0.93450	0.6801	10	0.46703	T	0.11	.	8.1166	0.30946	0.1684:0.7334:0.0:0.0983	.	106;106;239;221	B4DX26;B4E3N9;Q9UN79;Q5SXX2	.;.;SOX13_HUMAN;.	V	239	ENSP00000356172:L239V	ENSP00000356172:L239V	L	+	1	2	SOX13	202353398	0.986000	0.35501	1.000000	0.80357	0.996000	0.88848	2.004000	0.40854	1.080000	0.41073	0.467000	0.42956	CTG	SOX13	-	NULL		0.582	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX13	HGNC	protein_coding	OTTHUMT00000087881.2	C	NM_005686		204086775	+1	no_errors	ENST00000367204	ensembl	human	known	70_37	missense	SNP	1.000	G
SPAG16	79582	genome.wustl.edu	37	2	214161822	214161822	+	Intron	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:214161822G>T	ENST00000331683.5	+	3	278				SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000447990.1_Intron|SPAG16_ENST00000272898.7_Intron|SPAG16_ENST00000413312.1_Intron|SPAG16_ENST00000414961.2_Intron|SPAG16_ENST00000432529.2_Intron	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16						cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GAAGTCAGAAGAAAGCAGTTA	0.289																																																	0																																										SO:0001627	intron_variant	79582			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.184-164G>T	2.37:g.214161822G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	NULL	p.R87I	ENST00000331683.5	37	c.260	CCDS2396.1	2																																																																																			SPAG16	-	NULL		0.289	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG16	HGNC	protein_coding	OTTHUMT00000256601.2	G	NM_024532		214161822	+1	no_errors	ENST00000420497	ensembl	human	known	70_37	missense	SNP	0.001	T
SPAG4	6676	genome.wustl.edu	37	20	34205752	34205752	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:34205752C>G	ENST00000374273.3	+	4	640	c.528C>G	c.(526-528)ctC>ctG	p.L176L	SPAG4_ENST00000462896.1_Intron	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	176					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TGCTGAGCCTCTTTCTGTCAG	0.617																																																	0													66.0	62.0	63.0					20																	34205752		2203	4300	6503	SO:0001819	synonymous_variant	6676			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.528C>G	20.37:g.34205752C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O43648	Silent	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.L176	ENST00000374273.3	37	c.528	CCDS13259.1	20																																																																																			SPAG4	-	NULL		0.617	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SPAG4	HGNC	protein_coding	OTTHUMT00000078896.1	C	NM_003116		34205752	+1	no_errors	ENST00000374273	ensembl	human	known	70_37	silent	SNP	1.000	G
SPAG5	10615	genome.wustl.edu	37	17	26911397	26911397	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:26911397C>T	ENST00000321765.5	-	12	2595	c.2263G>A	c.(2263-2265)Gag>Aag	p.E755K		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	755	Gln-rich.|Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CAGAGTAACTCATCCTTCATA	0.527																																																	0													218.0	200.0	206.0					17																	26911397		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2263G>A	17.37:g.26911397C>T	ENSP00000323300:p.Glu755Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.E755K	ENST00000321765.5	37	c.2263	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558560	0.65538	.	.	ENSG00000076382	ENST00000321765;ENST00000536674	.	.	.	6.02	5.05	0.67936	.	0.188492	0.37012	N	0.002281	T	0.44829	0.1312	L	0.36672	1.1	0.30877	N	0.731802	D	0.55385	0.971	P	0.52823	0.71	T	0.49513	-0.8932	9	0.37606	T	0.19	-4.5268	13.4753	0.61306	0.0:0.8438:0.1562:0.0	.	755	Q96R06	SPAG5_HUMAN	K	755;252	.	ENSP00000323300:E755K	E	-	1	0	SPAG5	23935524	0.591000	0.26824	0.991000	0.47740	0.698000	0.40448	2.484000	0.45242	1.551000	0.49450	0.650000	0.86243	GAG	SPAG5	-	NULL		0.527	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	C	NM_006461		26911397	-1	no_errors	ENST00000321765	ensembl	human	known	70_37	missense	SNP	0.998	T
SPAG6	9576	genome.wustl.edu	37	10	22678157	22678157	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:22678157G>C	ENST00000376624.3	+	7	1063	c.921G>C	c.(919-921)ggG>ggC	p.G307G	SPAG6_ENST00000376601.1_Intron|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Silent_p.G282G|SPAG6_ENST00000313311.6_Silent_p.G307G|SPAG6_ENST00000376603.2_Silent_p.G383G	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	307					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CCTGCAAAGGGAACACACGGC	0.493																																																	0													196.0	164.0	175.0					10																	22678157		2203	4300	6503	SO:0001819	synonymous_variant	9576			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.921G>C	10.37:g.22678157G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Silent	SNP	pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo	p.G383	ENST00000376624.3	37	c.1149	CCDS7139.1	10																																																																																			SPAG6	-	superfamily_ARM-type_fold,smart_Armadillo		0.493	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG6	HGNC	protein_coding	OTTHUMT00000047187.1	G			22678157	+1	no_errors	ENST00000376603	ensembl	human	known	70_37	silent	SNP	0.869	C
SPAG7	9552	genome.wustl.edu	37	17	4863765	4863765	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:4863765C>G	ENST00000206020.3	-	3	298	c.231G>C	c.(229-231)gaG>gaC	p.E77D	SPAG7_ENST00000573366.1_Missense_Mutation_p.E26D|SPAG7_ENST00000575142.1_Missense_Mutation_p.E66D	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	77	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						GTATGCTCCTCTCGATCTTGT	0.552																																																	0													155.0	145.0	148.0					17																	4863765		1954	4157	6111	SO:0001583	missense	9552			AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.231G>C	17.37:g.4863765C>G	ENSP00000206020:p.Glu77Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96EU5	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pirsf_Sperm-assoc_antigen_PAG7,pfscan_R3H_ss-bd	p.E77D	ENST00000206020.3	37	c.231	CCDS42240.1	17	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869004	0.51588	.	.	ENSG00000091640	ENST00000206020	T	0.41758	0.99	5.23	5.23	0.72850	Single-stranded nucleic acid binding R3H (3);	0.106113	0.64402	D	0.000005	T	0.45357	0.1338	M	0.79123	2.44	0.40920	D	0.984305	P	0.38677	0.642	B	0.36808	0.233	T	0.49698	-0.8912	10	0.39692	T	0.17	-14.0373	14.1767	0.65546	0.0:1.0:0.0:0.0	.	77	O75391	SPAG7_HUMAN	D	77	ENSP00000206020:E77D	ENSP00000206020:E77D	E	-	3	2	SPAG7	4804488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.661000	0.46758	2.723000	0.93209	0.650000	0.86243	GAG	SPAG7	-	pfam_R3H_ss-bd,smart_R3H_ss-bd,pirsf_Sperm-assoc_antigen_PAG7,pfscan_R3H_ss-bd		0.552	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG7	HGNC	protein_coding	OTTHUMT00000438747.1	C	NM_004890		4863765	-1	no_errors	ENST00000206020	ensembl	human	known	70_37	missense	SNP	1.000	G
CTBS	1486	genome.wustl.edu	37	1	85016205	85016205	+	3'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:85016205G>C	ENST00000370630.5	-	0	5683				CTBS_ENST00000477677.1_5'Flank	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-						chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		ACTCATAGTAGAAGTTAAGGT	0.294																																																	0													49.0	46.0	47.0					1																	85016205		1790	4052	5842	SO:0001624	3_prime_UTR_variant	100505741			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.*4477C>G	1.37:g.85016205G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VX50	RNA	SNP	-	NULL	ENST00000370630.5	37	NULL	CCDS698.1	1																																																																																			SPATA1	-	-		0.294	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA1	HGNC	protein_coding	OTTHUMT00000027457.2	G	NM_004388		85016205	+1	no_errors	ENST00000490879	ensembl	human	known	70_37	rna	SNP	1.000	C
SPATA6L	55064	genome.wustl.edu	37	9	4622463	4622463	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:4622463C>G	ENST00000454239.2	-	8	962	c.717G>C	c.(715-717)ttG>ttC	p.L239F	SPATA6L_ENST00000475086.1_Missense_Mutation_p.L181F|SPATA6L_ENST00000381895.5_Missense_Mutation_p.L116F|SPATA6L_ENST00000381890.5_Missense_Mutation_p.L253F|SPATA6L_ENST00000223517.5_5'Flank			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	239																	TAGACCTCCTCAAATGATGCT	0.403																																																	0													102.0	98.0	99.0					9																	4622463		1854	4091	5945	SO:0001583	missense	55064			AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.717G>C	9.37:g.4622463C>G	ENSP00000404277:p.Leu239Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIY4|Q5JVJ5|Q8IY90	Missense_Mutation	SNP	NULL	p.L239F	ENST00000454239.2	37	c.717		9	.	.	.	.	.	.	.	.	.	.	C	7.693	0.691379	0.15039	.	.	ENSG00000106686	ENST00000454239;ENST00000381890;ENST00000475086;ENST00000381895	T;T;T;T	0.45276	1.87;0.9;1.87;1.9	4.11	-3.48	0.04739	.	0.613628	0.15284	N	0.270508	T	0.25901	0.0631	L	0.29908	0.895	0.09310	N	1	P;P;P	0.47677	0.899;0.531;0.547	P;B;B	0.44990	0.466;0.178;0.26	T	0.15037	-1.0451	10	0.56958	D	0.05	-11.3213	2.4791	0.04583	0.0994:0.322:0.3381:0.2406	.	181;116;239	B4DIY4;E7ENB5;Q8N4H0	.;.;CI068_HUMAN	F	239;253;181;116	ENSP00000404277:L239F;ENSP00000371314:L253F;ENSP00000417063:L181F;ENSP00000371319:L116F	ENSP00000371314:L253F	L	-	3	2	C9orf68	4612463	0.000000	0.05858	0.000000	0.03702	0.336000	0.28762	-0.361000	0.07612	-0.747000	0.04759	0.643000	0.83706	TTG	SPATA6L	-	NULL		0.403	SPATA6L-202	KNOWN	basic	protein_coding	SPATA6L	HGNC	protein_coding		C	NM_017985		4622463	-1	no_errors	ENST00000454239	ensembl	human	known	70_37	missense	SNP	0.000	G
SPATA31D5P	347127	genome.wustl.edu	37	9	84532641	84532641	+	RNA	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:84532641C>T	ENST00000527857.1	+	0	2663					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		AATTAAACATCAAAATCTGGT	0.438																																																	0																																												347127					9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84532641C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000527857.1	37	NULL		9																																																																																			SPATA31D5P	-	-		0.438	SPATA31D5P-002	KNOWN	basic	processed_transcript	SPATA31D5P	HGNC	pseudogene	OTTHUMT00000052810.2	C	NR_026851		84532641	+1	no_errors	ENST00000527857	ensembl	human	known	70_37	rna	SNP	0.000	T
SPDEF	25803	genome.wustl.edu	37	6	34507169	34507169	+	Silent	SNP	C	C	G	rs374206315		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:34507169C>G	ENST00000374037.3	-	5	1101	c.687G>C	c.(685-687)tcG>tcC	p.S229S	SPDEF_ENST00000544425.1_Silent_p.S213S	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	229					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCTCACTGGTCGAGGCTGGGT	0.672																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	80.0	76.0	77.0		687	-8.9	0.5	6		77	0,8600		0,0,4300	no	coding-synonymous	SPDEF	NM_012391.1		0,1,6502	GG,GC,CC		0.0,0.0227,0.0077		229/336	34507169	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25803			AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.687G>C	6.37:g.34507169C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWH8|F5H778	Silent	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.S229	ENST00000374037.3	37	c.687	CCDS4794.1	6																																																																																			SPDEF	-	NULL		0.672	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDEF	HGNC	protein_coding	OTTHUMT00000040246.1	C	NM_012391		34507169	-1	no_errors	ENST00000374037	ensembl	human	known	70_37	silent	SNP	0.000	G
SPECC1	92521	genome.wustl.edu	37	17	20107794	20107794	+	Silent	SNP	G	G	A	rs376056401		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:20107794G>A	ENST00000261503.5	+	4	483	c.432G>A	c.(430-432)acG>acA	p.T144T	SPECC1_ENST00000395529.3_Silent_p.T144T|SPECC1_ENST00000395525.3_Silent_p.T63T|SPECC1_ENST00000395530.2_Silent_p.T63T|SPECC1_ENST00000395527.4_Silent_p.T144T|SPECC1_ENST00000395522.2_Silent_p.T63T|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000536879.1_Intron	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	144					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CCACTCCTACGAAACACCTGA	0.522																																																	0													123.0	127.0	125.0					17																	20107794		2203	4300	6503	SO:0001819	synonymous_variant	92521			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.432G>A	17.37:g.20107794G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Silent	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.T144	ENST00000261503.5	37	c.432	CCDS32590.1	17																																																																																			SPECC1	-	NULL		0.522	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1	HGNC	protein_coding	OTTHUMT00000441206.1	G	NM_152904		20107794	+1	no_errors	ENST00000261503	ensembl	human	known	70_37	silent	SNP	0.998	A
SPEG	10290	genome.wustl.edu	37	2	220353359	220353359	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:220353359C>G	ENST00000312358.7	+	33	8130	c.7998C>G	c.(7996-7998)atC>atG	p.I2666M	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2666	Ig-like 9.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGGCAGCATCACCAGCTCCT	0.662																																																	0													35.0	38.0	37.0					2																	220353359		2012	4173	6185	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.7998C>G	2.37:g.220353359C>G	ENSP00000311684:p.Ile2666Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.I2666M	ENST00000312358.7	37	c.7998	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562784	0.27915	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.66995	-0.24	4.37	2.15	0.27550	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.364326	0.19904	N	0.103451	T	0.57725	0.2073	L	0.41079	1.255	0.80722	D	1	P	0.42941	0.794	P	0.45998	0.5	T	0.53251	-0.8465	10	0.54805	T	0.06	.	4.6827	0.12743	0.0:0.5964:0.1689:0.2347	.	2666	Q15772	SPEG_HUMAN	M	2666	ENSP00000311684:I2666M	ENSP00000265327:I2666M	I	+	3	3	SPEG	220061603	0.318000	0.24598	0.999000	0.59377	0.972000	0.66771	0.113000	0.15499	0.281000	0.22233	0.563000	0.77884	ATC	SPEG	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.662	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	C	NM_005876		220353359	+1	no_errors	ENST00000312358	ensembl	human	novel	70_37	missense	SNP	0.986	G
SPEG	10290	genome.wustl.edu	37	2	220357648	220357648	+	3'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:220357648C>G	ENST00000312358.7	+	0	10076				AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus						cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTCTTACCTCATAGACCTTC	0.627																																																	0																																										SO:0001624	3_prime_UTR_variant	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.*140C>G	2.37:g.220357648C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	RNA	SNP	-	NULL	ENST00000312358.7	37	NULL	CCDS42824.1	2																																																																																			SPEG	-	-		0.627	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	C	NM_005876		220357648	+1	no_errors	ENST00000485813	ensembl	human	known	70_37	rna	SNP	1.000	G
SPEN	23013	genome.wustl.edu	37	1	16254826	16254826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16254826C>A	ENST00000375759.3	+	11	2295	c.2091C>A	c.(2089-2091)taC>taA	p.Y697*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	697	Arg-rich.|Tyr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AATATAGTTACAGGCAAAGGG	0.438																																																	0													114.0	114.0	114.0					1																	16254826		2203	4300	6503	SO:0001587	stop_gained	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2091C>A	1.37:g.16254826C>A	ENSP00000364912:p.Tyr697*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.Y697*	ENST00000375759.3	37	c.2091	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.524875	0.98339	.	.	ENSG00000065526	ENST00000375759	.	.	.	4.84	2.95	0.34219	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3958	10.7322	0.46104	0.0:0.8638:0.0:0.1362	.	.	.	.	X	697	.	ENSP00000364912:Y697X	Y	+	3	2	SPEN	16127413	0.995000	0.38212	1.000000	0.80357	0.991000	0.79684	0.450000	0.21762	0.625000	0.30304	0.563000	0.77884	TAC	SPEN	-	NULL		0.438	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	C	NM_015001		16254826	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SPEN	23013	genome.wustl.edu	37	1	16255242	16255242	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16255242C>G	ENST00000375759.3	+	11	2711	c.2507C>G	c.(2506-2508)tCa>tGa	p.S836*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	836					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.S836L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTCAGTCTTCAGAAACGGAC	0.448																																																	1	Substitution - Missense(1)	lung(1)											81.0	87.0	85.0					1																	16255242		2203	4300	6503	SO:0001587	stop_gained	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2507C>G	1.37:g.16255242C>G	ENSP00000364912:p.Ser836*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.S836*	ENST00000375759.3	37	c.2507	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.361889	0.98777	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-11.7829	18.7522	0.91820	0.0:1.0:0.0:0.0	.	.	.	.	X	836	.	ENSP00000364912:S836X	S	+	2	0	SPEN	16127829	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	3.963000	0.56773	2.653000	0.90120	0.655000	0.94253	TCA	SPEN	-	NULL		0.448	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	C	NM_015001		16255242	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	nonsense	SNP	1.000	G
SPEN	23013	genome.wustl.edu	37	1	16256108	16256108	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16256108G>C	ENST00000375759.3	+	11	3577	c.3373G>C	c.(3373-3375)Gag>Cag	p.E1125Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1125					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCAAGGACCAGAGAGAGAAGA	0.403																																																	0													36.0	38.0	37.0					1																	16256108		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3373G>C	1.37:g.16256108G>C	ENSP00000364912:p.Glu1125Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E1125Q	ENST00000375759.3	37	c.3373	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	8.746	0.920064	0.17982	.	.	ENSG00000065526	ENST00000375759	T	0.10960	2.82	5.2	5.2	0.72013	.	.	.	.	.	T	0.17109	0.0411	L	0.57536	1.79	0.26004	N	0.982078	P	0.52842	0.956	P	0.46796	0.527	T	0.08953	-1.0697	9	0.33141	T	0.24	-24.4343	13.8336	0.63395	0.0:0.0:0.8472:0.1528	.	1125	Q96T58	MINT_HUMAN	Q	1125	ENSP00000364912:E1125Q	ENSP00000364912:E1125Q	E	+	1	0	SPEN	16128695	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	7.107000	0.77047	2.704000	0.92352	0.650000	0.86243	GAG	SPEN	-	NULL		0.403	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16256108	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	0.644	C
SPEN	23013	genome.wustl.edu	37	1	16256255	16256255	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16256255G>A	ENST00000375759.3	+	11	3724	c.3520G>A	c.(3520-3522)Gaa>Aaa	p.E1174K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1174					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAACAAATGGAACAGAGTCG	0.393																																																	0													58.0	52.0	54.0					1																	16256255		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3520G>A	1.37:g.16256255G>A	ENSP00000364912:p.Glu1174Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E1174K	ENST00000375759.3	37	c.3520	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395110	0.62066	.	.	ENSG00000065526	ENST00000375759	T	0.09911	2.93	5.2	5.2	0.72013	.	.	.	.	.	T	0.33265	0.0857	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00792	-1.1564	9	0.44086	T	0.13	-12.1012	18.9154	0.92503	0.0:0.0:1.0:0.0	.	1174	Q96T58	MINT_HUMAN	K	1174	ENSP00000364912:E1174K	ENSP00000364912:E1174K	E	+	1	0	SPEN	16128842	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.202000	0.95026	2.704000	0.92352	0.650000	0.86243	GAA	SPEN	-	NULL		0.393	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16256255	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	A
SPEN	23013	genome.wustl.edu	37	1	16256303	16256303	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16256303G>C	ENST00000375759.3	+	11	3772	c.3568G>C	c.(3568-3570)Gag>Cag	p.E1190Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1190					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGCCAAGTCTGAGAAGTTTGG	0.433																																																	0													66.0	60.0	62.0					1																	16256303		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3568G>C	1.37:g.16256303G>C	ENSP00000364912:p.Glu1190Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E1190Q	ENST00000375759.3	37	c.3568	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294503	0.40594	.	.	ENSG00000065526	ENST00000375759	T	0.11277	2.79	5.08	5.08	0.68730	.	.	.	.	.	T	0.16171	0.0389	N	0.14661	0.345	0.40411	D	0.979748	D	0.71674	0.998	P	0.59115	0.852	T	0.11275	-1.0594	9	0.41790	T	0.15	-21.9868	18.6643	0.91483	0.0:0.0:1.0:0.0	.	1190	Q96T58	MINT_HUMAN	Q	1190	ENSP00000364912:E1190Q	ENSP00000364912:E1190Q	E	+	1	0	SPEN	16128890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.033000	0.70925	2.633000	0.89246	0.650000	0.86243	GAG	SPEN	-	NULL		0.433	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16256303	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	C
SPEN	23013	genome.wustl.edu	37	1	16256501	16256501	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16256501G>A	ENST00000375759.3	+	11	3970	c.3766G>A	c.(3766-3768)Gaa>Aaa	p.E1256K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1256					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGAAGATTCTGAAAGGACTGG	0.468																																																	0													94.0	95.0	94.0					1																	16256501		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3766G>A	1.37:g.16256501G>A	ENSP00000364912:p.Glu1256Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E1256K	ENST00000375759.3	37	c.3766	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107599	0.56291	.	.	ENSG00000065526	ENST00000375759	T	0.12255	2.7	4.91	4.91	0.64330	.	.	.	.	.	T	0.27489	0.0675	L	0.34521	1.04	0.58432	D	0.999994	D	0.76494	0.999	D	0.80764	0.994	T	0.01266	-1.1401	9	0.32370	T	0.25	-21.5275	18.2949	0.90141	0.0:0.0:1.0:0.0	.	1256	Q96T58	MINT_HUMAN	K	1256	ENSP00000364912:E1256K	ENSP00000364912:E1256K	E	+	1	0	SPEN	16129088	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	5.888000	0.69758	2.555000	0.86185	0.557000	0.71058	GAA	SPEN	-	NULL		0.468	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16256501	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	0.997	A
SPEN	23013	genome.wustl.edu	37	1	16256546	16256546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16256546G>T	ENST00000375759.3	+	11	4015	c.3811G>T	c.(3811-3813)Gaa>Taa	p.E1271*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1271					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTCCTTCCATGAAGATGAGGA	0.478																																																	0													85.0	89.0	87.0					1																	16256546		2203	4300	6503	SO:0001587	stop_gained	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3811G>T	1.37:g.16256546G>T	ENSP00000364912:p.Glu1271*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E1271*	ENST00000375759.3	37	c.3811	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.574754	0.99208	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-22.692	18.546	0.91047	0.0:0.0:1.0:0.0	.	.	.	.	X	1271	.	ENSP00000364912:E1271X	E	+	1	0	SPEN	16129133	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.839000	0.92120	2.626000	0.88956	0.557000	0.71058	GAA	SPEN	-	NULL		0.478	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16256546	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SPEN	23013	genome.wustl.edu	37	1	16256967	16256967	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16256967G>T	ENST00000375759.3	+	11	4436	c.4232G>T	c.(4231-4233)aGa>aTa	p.R1411I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1411					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTGAGGGACAGAGAAGACAAG	0.408																																																	0													85.0	85.0	85.0					1																	16256967		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4232G>T	1.37:g.16256967G>T	ENSP00000364912:p.Arg1411Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.R1411I	ENST00000375759.3	37	c.4232	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806717	0.50421	.	.	ENSG00000065526	ENST00000375759	T	0.15017	2.46	5.03	5.03	0.67393	.	.	.	.	.	T	0.31104	0.0786	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.63597	0.916	T	0.02498	-1.1150	9	0.62326	D	0.03	-17.6175	18.5656	0.91115	0.0:0.0:1.0:0.0	.	1411	Q96T58	MINT_HUMAN	I	1411	ENSP00000364912:R1411I	ENSP00000364912:R1411I	R	+	2	0	SPEN	16129554	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.108000	0.71522	2.630000	0.89119	0.563000	0.77884	AGA	SPEN	-	NULL		0.408	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16256967	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	T
SPEN	23013	genome.wustl.edu	37	1	16256972	16256972	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16256972G>A	ENST00000375759.3	+	11	4441	c.4237G>A	c.(4237-4239)Gac>Aac	p.D1413N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1413					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGACAGAGAAGACAAGCTACG	0.398																																																	0													87.0	86.0	86.0					1																	16256972		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4237G>A	1.37:g.16256972G>A	ENSP00000364912:p.Asp1413Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D1413N	ENST00000375759.3	37	c.4237	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463550	0.26248	.	.	ENSG00000065526	ENST00000375759	T	0.10099	2.91	5.03	4.1	0.47936	.	.	.	.	.	T	0.07413	0.0187	N	0.19112	0.55	0.33065	D	0.534591	P	0.39665	0.682	B	0.32864	0.154	T	0.17501	-1.0367	9	0.32370	T	0.25	-7.7167	15.2129	0.73241	0.0:0.1462:0.8538:0.0	.	1413	Q96T58	MINT_HUMAN	N	1413	ENSP00000364912:D1413N	ENSP00000364912:D1413N	D	+	1	0	SPEN	16129559	1.000000	0.71417	0.994000	0.49952	0.909000	0.53808	5.795000	0.69074	1.320000	0.45209	0.563000	0.77884	GAC	SPEN	-	NULL		0.398	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16256972	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	A
SPEN	23013	genome.wustl.edu	37	1	16257044	16257044	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16257044G>C	ENST00000375759.3	+	11	4513	c.4309G>C	c.(4309-4311)Gat>Cat	p.D1437H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1437					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTTTGCATTGGATAAGACAAT	0.388																																																	0													78.0	81.0	80.0					1																	16257044		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4309G>C	1.37:g.16257044G>C	ENSP00000364912:p.Asp1437His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D1437H	ENST00000375759.3	37	c.4309	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596436	0.46318	.	.	ENSG00000065526	ENST00000375759	T	0.33654	1.4	5.27	5.27	0.74061	.	.	.	.	.	T	0.52025	0.1709	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53711	-0.8400	9	0.87932	D	0	-19.6808	19.0911	0.93227	0.0:0.0:1.0:0.0	.	1437	Q96T58	MINT_HUMAN	H	1437	ENSP00000364912:D1437H	ENSP00000364912:D1437H	D	+	1	0	SPEN	16129631	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.955000	0.93058	2.746000	0.94184	0.563000	0.77884	GAT	SPEN	-	NULL		0.388	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16257044	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	C
SPEN	23013	genome.wustl.edu	37	1	16257220	16257220	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16257220G>A	ENST00000375759.3	+	11	4689	c.4485G>A	c.(4483-4485)atG>atA	p.M1495I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1495					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCTGGTACATGAAAAAGAAGA	0.388																																																	0													60.0	66.0	64.0					1																	16257220		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4485G>A	1.37:g.16257220G>A	ENSP00000364912:p.Met1495Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.M1495I	ENST00000375759.3	37	c.4485	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897399	0.52121	.	.	ENSG00000065526	ENST00000375759	T	0.14144	2.53	5.27	5.27	0.74061	.	.	.	.	.	T	0.10981	0.0268	N	0.20986	0.625	0.80722	D	1	P	0.49185	0.92	B	0.39152	0.292	T	0.13926	-1.0491	9	0.28530	T	0.3	-21.8862	19.0911	0.93227	0.0:0.0:1.0:0.0	.	1495	Q96T58	MINT_HUMAN	I	1495	ENSP00000364912:M1495I	ENSP00000364912:M1495I	M	+	3	0	SPEN	16129807	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.202000	0.95026	2.746000	0.94184	0.563000	0.77884	ATG	SPEN	-	NULL		0.388	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16257220	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	A
SPEN	23013	genome.wustl.edu	37	1	16257260	16257260	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16257260G>A	ENST00000375759.3	+	11	4729	c.4525G>A	c.(4525-4527)Gat>Aat	p.D1509N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1509					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGGGAAAATGGATGATAAGAA	0.378																																																	0													71.0	77.0	75.0					1																	16257260		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4525G>A	1.37:g.16257260G>A	ENSP00000364912:p.Asp1509Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D1509N	ENST00000375759.3	37	c.4525	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743099	0.30865	.	.	ENSG00000065526	ENST00000375759	T	0.11495	2.77	5.17	5.17	0.71159	.	.	.	.	.	T	0.12475	0.0303	L	0.27053	0.805	0.41782	D	0.989822	P	0.50066	0.931	P	0.46629	0.522	T	0.11421	-1.0588	9	0.26408	T	0.33	-7.7746	18.8556	0.92251	0.0:0.0:1.0:0.0	.	1509	Q96T58	MINT_HUMAN	N	1509	ENSP00000364912:D1509N	ENSP00000364912:D1509N	D	+	1	0	SPEN	16129847	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.001000	0.63946	2.688000	0.91661	0.563000	0.77884	GAT	SPEN	-	NULL		0.378	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16257260	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	A
SPEN	23013	genome.wustl.edu	37	1	16257263	16257263	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16257263G>A	ENST00000375759.3	+	11	4732	c.4528G>A	c.(4528-4530)Gat>Aat	p.D1510N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1510					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAAATGGATGATAAGAAAGA	0.378																																																	0													69.0	76.0	74.0					1																	16257263		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4528G>A	1.37:g.16257263G>A	ENSP00000364912:p.Asp1510Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D1510N	ENST00000375759.3	37	c.4528	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936036	0.52972	.	.	ENSG00000065526	ENST00000375759	T	0.18657	2.2	5.17	5.17	0.71159	.	.	.	.	.	T	0.34542	0.0901	L	0.32530	0.975	0.58432	D	0.999999	D	0.76494	0.999	D	0.64144	0.922	T	0.01484	-1.1343	9	0.33940	T	0.23	-11.4153	18.8556	0.92251	0.0:0.0:1.0:0.0	.	1510	Q96T58	MINT_HUMAN	N	1510	ENSP00000364912:D1510N	ENSP00000364912:D1510N	D	+	1	0	SPEN	16129850	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.202000	0.95026	2.688000	0.91661	0.563000	0.77884	GAT	SPEN	-	NULL		0.378	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16257263	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	A
SPEN	23013	genome.wustl.edu	37	1	16257467	16257467	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16257467G>C	ENST00000375759.3	+	11	4936	c.4732G>C	c.(4732-4734)Gaa>Caa	p.E1578Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1578					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTCCATTCAAGAACCAGTAGT	0.423																																																	0													68.0	70.0	69.0					1																	16257467		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4732G>C	1.37:g.16257467G>C	ENSP00000364912:p.Glu1578Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E1578Q	ENST00000375759.3	37	c.4732	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188904	0.57909	.	.	ENSG00000065526	ENST00000375759	T	0.17691	2.26	4.88	4.88	0.63580	.	.	.	.	.	T	0.31420	0.0796	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.02691	-1.1123	9	0.51188	T	0.08	-24.445	18.2236	0.89910	0.0:0.0:1.0:0.0	.	1578	Q96T58	MINT_HUMAN	Q	1578	ENSP00000364912:E1578Q	ENSP00000364912:E1578Q	E	+	1	0	SPEN	16130054	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	9.197000	0.94985	2.509000	0.84616	0.563000	0.77884	GAA	SPEN	-	NULL		0.423	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16257467	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	C
SPHK1	8877	genome.wustl.edu	37	17	74381246	74381246	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:74381246G>A	ENST00000545180.1	+	4	615				SPHK1_ENST00000592299.1_Intron|SPHK1_ENST00000392496.3_5'Flank|SPHK1_ENST00000590959.1_Intron|SPHK1_ENST00000323374.4_Silent_p.P20P			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1						'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	TGGCAGCCCCGAGGGGTGAGG	0.662																																					GBM(90;966 1307 27369 33775 44498)												0													25.0	21.0	22.0					17																	74381246		2191	4290	6481	SO:0001627	intron_variant	8877			BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.-194-286G>A	17.37:g.74381246G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Silent	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.P20	ENST00000545180.1	37	c.60	CCDS45785.1	17																																																																																			SPHK1	-	NULL		0.662	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPHK1	HGNC	protein_coding	OTTHUMT00000450113.1	G	NM_182965, NM_021972		74381246	+1	no_errors	ENST00000323374	ensembl	human	known	70_37	silent	SNP	0.000	A
SPHK2	56848	genome.wustl.edu	37	19	49128925	49128925	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:49128925G>A	ENST00000245222.4	+	3	405				SPHK2_ENST00000599029.1_5'UTR|AC022154.7_ENST00000594850.1_RNA|AC022154.7_ENST00000598735.1_RNA|AC022154.7_ENST00000600303.1_RNA|SPHK2_ENST00000599748.1_Intron|SPHK2_ENST00000599033.1_Intron|SPHK2_ENST00000340932.3_Intron|SPHK2_ENST00000443164.1_Start_Codon_SNP_p.M1I|SPHK2_ENST00000600537.1_Intron|SPHK2_ENST00000601712.1_Intron|SPHK2_ENST00000598088.1_Intron	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2						blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		gggaataaatgaTTGGATGTT	0.537																																																	0																																										SO:0001627	intron_variant	56848			AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.40-223G>A	19.37:g.49128925G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.M1I	ENST00000245222.4	37	c.3	CCDS12727.1	19	.	.	.	.	.	.	.	.	.	.	G	9.957	1.221800	0.22457	.	.	ENSG00000063176	ENST00000443164	T	0.24151	1.87	2.94	-4.18	0.03846	.	.	.	.	.	T	0.13286	0.0322	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34576	-0.9823	8	0.87932	D	0	-12.6991	0.248	0.00201	0.2358:0.1669:0.2646:0.3326	.	1	A0T4C8	.	I	1	ENSP00000413369:M1I	ENSP00000413369:M1I	M	+	3	0	SPHK2	53820737	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.028000	0.12350	-0.760000	0.04677	0.462000	0.41574	ATG	SPHK2	-	NULL		0.537	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHK2	HGNC	protein_coding	OTTHUMT00000466153.1	G			49128925	+1	no_errors	ENST00000443164	ensembl	human	known	70_37	missense	SNP	0.000	A
SPINK5	11005	genome.wustl.edu	37	5	147510945	147510945	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:147510945G>A	ENST00000256084.7	+	31	3130	c.3088G>A	c.(3088-3090)Gaa>Aaa	p.E1030K	SPINK5_ENST00000359874.3_Missense_Mutation_p.E1060K	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	1030	Kazal-like 15. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTGTCATGAAAACCTGTA	0.403																																																	0													196.0	181.0	186.0					5																	147510945		1931	4144	6075	SO:0001583	missense	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.3088G>A	5.37:g.147510945G>A	ENSP00000256084:p.Glu1030Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal	p.E1060K	ENST00000256084.7	37	c.3178	CCDS43382.1	5	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866518	0.72065	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	T;T	0.75260	-0.92;-0.92	5.06	3.29	0.37713	Proteinase inhibitor I1, Kazal (2);	0.323267	0.29093	N	0.013162	T	0.76919	0.4055	L	0.47078	1.49	0.34151	D	0.667552	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.75637	-0.3249	10	0.11182	T	0.66	-18.2755	8.4495	0.32862	0.1841:0.0:0.8159:0.0	.	1060;1030	Q9NQ38-3;Q9NQ38	.;ISK5_HUMAN	K	1060;1030	ENSP00000352936:E1060K;ENSP00000256084:E1030K	ENSP00000256084:E1030K	E	+	1	0	SPINK5	147491138	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.145000	0.42207	0.808000	0.34231	-0.140000	0.14226	GAA	SPINK5	-	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal		0.403	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	HGNC	protein_coding	OTTHUMT00000259215.2	G	NM_001127698		147510945	+1	no_errors	ENST00000359874	ensembl	human	known	70_37	missense	SNP	1.000	A
SPO11	23626	genome.wustl.edu	37	20	55917854	55917854	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:55917854G>C	ENST00000371263.3	+	12	1138	c.1029G>C	c.(1027-1029)ctG>ctC	p.L343L	SPO11_ENST00000345868.4_Silent_p.L305L|SPO11_ENST00000371260.4_Silent_p.L301L	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	343					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			ACAGTATCCTGAGGAGACCTT	0.333								Editing and processing nucleases																																									0													96.0	86.0	89.0					20																	55917854		2203	4299	6502	SO:0001819	synonymous_variant	23626			AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.1029G>C	20.37:g.55917854G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Silent	SNP	pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A	p.L343	ENST00000371263.3	37	c.1029	CCDS13456.1	20																																																																																			SPO11	-	superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11		0.333	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPO11	HGNC	protein_coding	OTTHUMT00000079836.2	G	NM_012444		55917854	+1	no_errors	ENST00000371263	ensembl	human	known	70_37	silent	SNP	0.998	C
SPP1	6696	genome.wustl.edu	37	4	88902690	88902690	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:88902690G>A	ENST00000395080.3	+	6	407	c.280G>A	c.(280-282)Gat>Aat	p.D94N	SPP1_ENST00000360804.4_Missense_Mutation_p.D67N|SPP1_ENST00000237623.7_Missense_Mutation_p.D80N|SPP1_ENST00000509659.1_3'UTR	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	94					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		TGAAGATGATGATGACCATGT	0.438																																																	0													266.0	245.0	252.0					4																	88902690		2203	4300	6503	SO:0001583	missense	6696				CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.280G>A	4.37:g.88902690G>A	ENSP00000378517:p.Asp94Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Missense_Mutation	SNP	pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin	p.D94N	ENST00000395080.3	37	c.280	CCDS43250.1	4	.	.	.	.	.	.	.	.	.	.	G	9.920	1.212010	0.22289	.	.	ENSG00000118785	ENST00000359072;ENST00000535912;ENST00000237623;ENST00000395080;ENST00000360804;ENST00000508233	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.94	3.18	0.36537	.	3.371710	0.00649	N	0.000541	T	0.50769	0.1635	L	0.43923	1.385	0.09310	N	1	B;B;B;P;B	0.50819	0.322;0.322;0.322;0.939;0.322	B;B;B;P;B	0.56278	0.19;0.19;0.19;0.795;0.19	T	0.25606	-1.0127	10	0.22109	T	0.4	1.2273	6.6605	0.23011	0.0963:0.1808:0.7229:0.0	.	107;53;80;67;94	B7Z351;Q3LGB0;B2RDA1;Q567T5;P10451	.;.;.;.;OSTP_HUMAN	N	94;53;80;94;67;53	ENSP00000237623:D80N;ENSP00000378517:D94N;ENSP00000354042:D67N;ENSP00000422973:D53N	ENSP00000237623:D80N	D	+	1	0	SPP1	89121714	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-0.394000	0.07296	0.758000	0.33059	0.544000	0.68410	GAT	SPP1	-	pfam_Osteopontin,smart_Osteopontin		0.438	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP1	HGNC	protein_coding	OTTHUMT00000253048.3	G			88902690	+1	no_errors	ENST00000395080	ensembl	human	known	70_37	missense	SNP	0.001	A
SPRR1A	6698	genome.wustl.edu	37	1	152957716	152957716	+	Nonsense_Mutation	SNP	C	C	T	rs199891940		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:152957716C>T	ENST00000368762.1	+	1	10	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	SPRR1A_ENST00000307122.2_Nonsense_Mutation_p.Q4*			P35321	SPR1A_HUMAN	small proline-rich protein 1A	4	2 X 12 AA approximate repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATGAATTCTCAGCAGCAGAA	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16648	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001587	stop_gained	6698			L05187	CCDS1032.1	1q21-q22	2008-02-05			ENSG00000169474	ENSG00000169474			11259	protein-coding gene	gene with protein product		182265				8325635	Standard	NM_005987		Approved		uc001faw.3	P35321	OTTHUMG00000014404	ENST00000368762.1:c.10C>T	1.37:g.152957716C>T	ENSP00000357751:p.Gln4*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AN47|D3DV31|Q2M303|Q9UDG4	Nonsense_Mutation	SNP	pfam_Cornifin	p.Q4*	ENST00000368762.1	37	c.10	CCDS1032.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698621	0.88830	.	.	ENSG00000169474	ENST00000307122;ENST00000368762	.	.	.	5.35	4.43	0.53597	.	1.352220	0.05570	N	0.570953	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.3607	12.1717	0.54163	0.0:0.8282:0.1718:0.0	.	.	.	.	X	4	.	ENSP00000307340:Q4X	Q	+	1	0	SPRR1A	151224340	0.820000	0.29190	0.995000	0.50966	0.602000	0.36980	0.820000	0.27323	1.234000	0.43709	0.555000	0.69702	CAG	SPRR1A	-	NULL		0.463	SPRR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRR1A	HGNC	protein_coding	OTTHUMT00000040062.1	C	NM_005987		152957716	+1	no_errors	ENST00000307122	ensembl	human	known	70_37	nonsense	SNP	0.999	T
SPTAN1	6709	genome.wustl.edu	37	9	131395165	131395165	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:131395165G>A	ENST00000372731.4	+	55	7334	c.7224G>A	c.(7222-7224)gaG>gaA	p.E2408E	WDR34_ENST00000483181.1_5'Flank|SPTAN1_ENST00000372739.3_Silent_p.E2413E|SPTAN1_ENST00000358161.5_Silent_p.E2413E	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2408	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCAGCGAGGAGATTGAGAGCG	0.567																																					NSCLC(120;833 1744 2558 35612 37579)												0													103.0	105.0	104.0					9																	131395165		2203	4300	6503	SO:0001819	synonymous_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.7224G>A	9.37:g.131395165G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.E2413	ENST00000372731.4	37	c.7239	CCDS6905.1	9																																																																																			SPTAN1	-	pfam_EF-hand_Ca_insen		0.567	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	G	NM_003127		131395165	+1	no_errors	ENST00000358161	ensembl	human	known	70_37	silent	SNP	1.000	A
SPTBN1	6711	genome.wustl.edu	37	2	54858188	54858188	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:54858188G>A	ENST00000356805.4	+	16	3285	c.3004G>A	c.(3004-3006)Gag>Aag	p.E1002K	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E989K	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1002					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GACCGGCATGGAGCGGGACTT	0.627																																																	0													57.0	64.0	62.0					2																	54858188		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3004G>A	2.37:g.54858188G>A	ENSP00000349259:p.Glu1002Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E1002K	ENST00000356805.4	37	c.3004	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.334279	0.95758	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.55588	0.51;0.51	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.77909	0.4201	M	0.88105	2.93	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.75020	0.975;0.985	T	0.82600	-0.0377	10	0.87932	D	0	.	18.9486	0.92632	0.0:0.0:1.0:0.0	.	989;1002	Q01082-3;Q01082	.;SPTB2_HUMAN	K	1002;989	ENSP00000349259:E1002K;ENSP00000334156:E989K	ENSP00000334156:E989K	E	+	1	0	SPTBN1	54711692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.479000	0.83701	0.655000	0.94253	GAG	SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.627	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	G			54858188	+1	no_errors	ENST00000356805	ensembl	human	known	70_37	missense	SNP	1.000	A
SPTBN5	51332	genome.wustl.edu	37	15	42143328	42143328	+	Silent	SNP	G	G	T	rs577090459	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:42143328G>T	ENST00000320955.6	-	65	10991	c.10764C>A	c.(10762-10764)ctC>ctA	p.L3588L	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3588	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGAGGTCAAGGAGGGCTATGG	0.617																																																	0													32.0	36.0	34.0					15																	42143328		2051	4192	6243	SO:0001819	synonymous_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10764C>A	15.37:g.42143328G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L3588	ENST00000320955.6	37	c.10764		15																																																																																			SPTBN5	-	smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.617	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	G	NM_016642		42143328	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	silent	SNP	0.228	T
SRC	6714	genome.wustl.edu	37	20	36033164	36033164	+	3'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:36033164G>C	ENST00000373578.2	+	0	3342				SRC_ENST00000477066.1_3'UTR|SRC_ENST00000373567.2_3'UTR|SRC_ENST00000360723.4_3'UTR|SRC_ENST00000445403.1_3'UTR|SRC_ENST00000373558.2_3'UTR|SRC_ENST00000358208.4_3'UTR	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	gacatcaggagactgggctct	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	6714			AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.*1382G>C	20.37:g.36033164G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5V4|Q76P87|Q86VB9|Q9H5A8	RNA	SNP	-	NULL	ENST00000373578.2	37	NULL	CCDS13294.1	20																																																																																			SRC	-	-		0.602	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SRC	HGNC	protein_coding	OTTHUMT00000268142.1	G	NM_005417		36033164	+1	no_errors	ENST00000477066	ensembl	human	known	70_37	rna	SNP	0.001	C
SRCIN1	80725	genome.wustl.edu	37	17	36714613	36714613	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:36714613G>A	ENST00000264659.7	-	11	2275	c.2051C>T	c.(2050-2052)gCg>gTg	p.A684V	SRCIN1_ENST00000578925.1_Missense_Mutation_p.A718V|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	556					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CTTCAGCAGCGCGCGCACCGA	0.736											OREG0024362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14.0	15.0	14.0					17																	36714613		2029	4146	6175	SO:0001583	missense	80725				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2051C>T	17.37:g.36714613G>A	ENSP00000264659:p.Ala684Val	Somatic	865	WXS	Illumina HiSeq	Phase_IV	Q75T46|Q8N4W8	Missense_Mutation	SNP	pfam_AIP3_C	p.A684V	ENST00000264659.7	37	c.2051	CCDS45660.1	17	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688549	0.68271	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.52526	0.66	4.91	4.91	0.64330	.	0.326661	0.31268	N	0.007944	T	0.36193	0.0958	L	0.37561	1.115	0.36276	D	0.855474	P;P;P	0.40931	0.733;0.733;0.519	B;B;B	0.31495	0.131;0.131;0.123	T	0.49934	-0.8886	10	0.40728	T	0.16	-22.4601	16.8846	0.86072	0.0:0.0:1.0:0.0	.	556;556;684	Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;SRCN1_HUMAN;.	V	684;465;538	ENSP00000264659:A684V	ENSP00000264659:A684V	A	-	2	0	SRCIN1	33968139	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.149000	0.64863	2.278000	0.76064	0.462000	0.41574	GCG	SRCIN1	-	NULL		0.736	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRCIN1	HGNC	protein_coding	OTTHUMT00000441878.4	G	NM_025248		36714613	-1	no_errors	ENST00000264659	ensembl	human	known	70_37	missense	SNP	0.998	A
AL133247.2	0	genome.wustl.edu	37	2	31751095	31751095	+	RNA	SNP	G	G	C	rs193256470		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:31751095G>C	ENST00000435713.1	+	0	0				SRD5A2_ENST00000405650.1_RNA																							GGAAGGGTAGGAGTAAACTCT	0.463																																																	0																																												6716																															2.37:g.31751095G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000435713.1	37	NULL		2																																																																																			SRD5A2	-	-		0.463	AL133247.2-001	KNOWN	basic|exp_conf	antisense	SRD5A2	HGNC	antisense	OTTHUMT00000325125.1	G			31751095	-1	no_errors	ENST00000233139	ensembl	human	known	70_37	rna	SNP	0.000	C
SRPX	8406	genome.wustl.edu	37	X	38016209	38016209	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:38016209G>A	ENST00000378533.3	-	8	1135	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000538295.1_Silent_p.L343L|SRPX_ENST00000432886.2_Silent_p.L284L|SRPX_ENST00000544439.1_Silent_p.L323L|SRPX_ENST00000343800.6_Silent_p.L330L|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	343					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TGGACACAATGAGGAGTCTCC	0.537																																																	0													118.0	92.0	101.0					X																	38016209		2202	4300	6502	SO:0001819	synonymous_variant	8406			U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.1029C>T	X.37:g.38016209G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.L343	ENST00000378533.3	37	c.1029	CCDS14245.1	X																																																																																			SRPX	-	NULL		0.537	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	HGNC	protein_coding	OTTHUMT00000056243.1	G	NM_006307		38016209	-1	no_errors	ENST00000378533	ensembl	human	known	70_37	silent	SNP	0.989	A
SRRT	51593	genome.wustl.edu	37	7	100482396	100482396	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:100482396G>C	ENST00000347433.4	+	8	1136	c.978G>C	c.(976-978)aaG>aaC	p.K326N	SRRT_ENST00000432932.1_Missense_Mutation_p.K326N|SRRT_ENST00000457580.2_Missense_Mutation_p.K326N|SRRT_ENST00000388793.4_Missense_Mutation_p.K326N			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	326	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ACAAAACAAAGAAGTCGGAGG	0.517																																																	0													67.0	71.0	70.0					7																	100482396		2203	4300	6503	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.978G>C	7.37:g.100482396G>C	ENSP00000314491:p.Lys326Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.K326N	ENST00000347433.4	37	c.978	CCDS34709.1	7	.	.	.	.	.	.	.	.	.	.	G	12.61	1.989334	0.35131	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433	T;T;T;T	0.41758	2.3;0.99;0.99;2.3	4.58	3.7	0.42460	.	0.220091	0.39274	N	0.001404	T	0.30541	0.0768	L	0.27053	0.805	0.43417	D	0.995566	P;P;P;B	0.34934	0.476;0.476;0.476;0.345	B;B;B;B	0.38616	0.277;0.277;0.277;0.143	T	0.07290	-1.0780	10	0.38643	T	0.18	.	8.6557	0.34062	0.1087:0.0:0.8913:0.0	.	326;326;326;326	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	N	326	ENSP00000416553:K326N;ENSP00000373445:K326N;ENSP00000391852:K326N;ENSP00000314491:K326N	ENSP00000314491:K326N	K	+	3	2	SRRT	100320332	1.000000	0.71417	0.989000	0.46669	0.347000	0.29111	0.810000	0.27183	1.056000	0.40484	0.491000	0.48974	AAG	SRRT	-	NULL		0.517	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	G	NM_015908		100482396	+1	no_errors	ENST00000388793	ensembl	human	known	70_37	missense	SNP	1.000	C
SRSF2	6427	genome.wustl.edu	37	17	74732516	74732516	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:74732516C>G	ENST00000392485.2	-	2	565	c.393G>C	c.(391-393)cgG>cgC	p.R131R	MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000590514.1_5'Flank|SRSF2_ENST00000359995.5_Silent_p.R131R|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000591864.1_5'Flank|MFSD11_ENST00000593181.1_5'Flank|SRSF2_ENST00000508921.3_Silent_p.R119R|MIR636_ENST00000384825.1_RNA|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000588460.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	131	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GACTCCGACTCCGGGATCGGC	0.697			Mis		"""MDS, CLL"""																																			Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	0													38.0	37.0	37.0					17																	74732516		2203	4300	6503	SO:0001819	synonymous_variant	6427			M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.393G>C	17.37:g.74732516C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWD5|B4DN89|H0YG49	Silent	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R131	ENST00000392485.2	37	c.393	CCDS11749.1	17	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878668	0.33162	.	.	ENSG00000161547	ENST00000452355	.	.	.	4.65	-2.11	0.07187	.	.	.	.	.	T	0.50480	0.1618	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48603	-0.9021	5	0.37606	T	0.19	.	4.9741	0.14131	0.0:0.3422:0.2766:0.3812	.	.	.	.	A	81	.	ENSP00000391278:G81A	G	-	2	0	SRSF2	72244111	0.062000	0.20869	0.602000	0.28890	0.848000	0.48234	-0.914000	0.04038	0.036000	0.15547	0.563000	0.77884	GGA	SRSF2	-	NULL		0.697	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SRSF2	HGNC	protein_coding	OTTHUMT00000437489.1	C	NM_003016		74732516	-1	no_errors	ENST00000359995	ensembl	human	known	70_37	silent	SNP	0.991	G
SRSF2	6427	genome.wustl.edu	37	17	74732932	74732932	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:74732932C>T	ENST00000392485.2	-	1	483	c.311G>A	c.(310-312)gGa>gAa	p.G104E	MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000590514.1_5'Flank|SRSF2_ENST00000359995.5_Missense_Mutation_p.G104E|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000591864.1_5'Flank|MFSD11_ENST00000593181.1_5'Flank|SRSF2_ENST00000508921.3_Missense_Mutation_p.G104E|MIR636_ENST00000384825.1_RNA|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000588460.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	104					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GGGTGGCGGTCCCCGGCGGCT	0.771			Mis		"""MDS, CLL"""																																			Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	0													9.0	11.0	11.0					17																	74732932		1931	3929	5860	SO:0001583	missense	6427			M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.311G>A	17.37:g.74732932C>T	ENSP00000376276:p.Gly104Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.G104E	ENST00000392485.2	37	c.311	CCDS11749.1	17	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011476	0.35511	.	.	ENSG00000161547	ENST00000392485;ENST00000508921;ENST00000358156	T	0.75589	-0.95	4.55	3.54	0.40534	.	0.063961	0.64402	D	0.000009	T	0.70570	0.3239	M	0.72894	2.215	0.80722	D	1	B;P	0.41978	0.345;0.767	B;B	0.41036	0.177;0.346	T	0.68198	-0.5472	10	0.07813	T	0.8	.	13.8901	0.63733	0.0:0.8456:0.1544:0.0	.	104;104	B4DN89;Q01130	.;SRSF2_HUMAN	E	104;131;92	ENSP00000376276:G104E	ENSP00000350877:G92E	G	-	2	0	SRSF2	72244527	0.981000	0.34729	0.897000	0.35233	0.410000	0.31052	4.885000	0.63142	0.851000	0.35264	0.557000	0.71058	GGA	SRSF2	-	NULL		0.771	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SRSF2	HGNC	protein_coding	OTTHUMT00000437489.1	C	NM_003016		74732932	-1	no_errors	ENST00000359995	ensembl	human	known	70_37	missense	SNP	0.987	T
SRSF6	6431	genome.wustl.edu	37	20	42089540	42089540	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:42089540C>G	ENST00000244020.3	+	6	978	c.872C>G	c.(871-873)tCa>tGa	p.S291*		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	291	Arg/Ser-rich (RS domain).				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GATATAAAGTCAAAATCCAGA	0.483																																																	0													72.0	72.0	72.0					20																	42089540		2203	4300	6503	SO:0001587	stop_gained	6431			U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.872C>G	20.37:g.42089540C>G	ENSP00000244020:p.Ser291*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	p.S291*	ENST00000244020.3	37	c.872	CCDS13318.1	20	.	.	.	.	.	.	.	.	.	.	C	36	5.944793	0.97134	.	.	ENSG00000124193	ENST00000244020	.	.	.	5.93	5.93	0.95920	.	0.181621	0.49916	D	0.000127	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.1112	0.93317	0.0:1.0:0.0:0.0	.	.	.	.	X	291	.	ENSP00000244020:S291X	S	+	2	0	SRSF6	41522954	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	2.638000	0.46562	2.803000	0.96430	0.585000	0.79938	TCA	SRSF6	-	NULL		0.483	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF6	HGNC	protein_coding	OTTHUMT00000079292.1	C	NM_006275		42089540	+1	no_errors	ENST00000244020	ensembl	human	known	70_37	nonsense	SNP	1.000	G
SSFA2	6744	genome.wustl.edu	37	2	182780888	182780888	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:182780888C>G	ENST00000431877.2	+	11	2700	c.2521C>G	c.(2521-2523)Cag>Gag	p.Q841E	SSFA2_ENST00000409001.1_Missense_Mutation_p.Q841E|SSFA2_ENST00000320370.7_Missense_Mutation_p.Q841E|SSFA2_ENST00000428267.2_Missense_Mutation_p.Q688E|SSFA2_ENST00000409136.1_Missense_Mutation_p.Q350E	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	841						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACCAATGTCTCAGTCTACCTG	0.542																																																	0													113.0	122.0	119.0					2																	182780888		2203	4300	6503	SO:0001583	missense	6744			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2521C>G	2.37:g.182780888C>G	ENSP00000388731:p.Gln841Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	NULL	p.Q841E	ENST00000431877.2	37	c.2521	CCDS46467.1	2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203732	0.79127	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.17691	2.49;2.26;2.49;2.51;2.29	5.95	5.95	0.96441	.	0.173701	0.50627	D	0.000103	T	0.37433	0.1003	M	0.74881	2.28	0.49213	D	0.999768	P;D;D;D;D	0.61697	0.935;0.99;0.967;0.967;0.967	P;P;P;P;P	0.55391	0.648;0.737;0.775;0.775;0.775	T	0.02251	-1.1188	10	0.21540	T	0.41	-13.0528	20.3932	0.98965	0.0:1.0:0.0:0.0	.	688;350;841;841;841	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	E	841;841;841;688;350	ENSP00000388731:Q841E;ENSP00000314669:Q841E;ENSP00000387319:Q841E;ENSP00000409867:Q688E;ENSP00000386916:Q350E	ENSP00000314669:Q841E	Q	+	1	0	SSFA2	182489133	1.000000	0.71417	0.998000	0.56505	0.835000	0.47333	6.170000	0.71920	2.824000	0.97209	0.655000	0.94253	CAG	SSFA2	-	NULL		0.542	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	HGNC	protein_coding	OTTHUMT00000255793.2	C	NM_006751		182780888	+1	no_errors	ENST00000431877	ensembl	human	known	70_37	missense	SNP	1.000	G
SSH2	85464	genome.wustl.edu	37	17	27977792	27977792	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:27977792C>T	ENST00000269033.3	-	12	1176	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	SSH2_ENST00000540801.1_Missense_Mutation_p.R369Q|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	342	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCTATCTCTCGAGTGACATT	0.428																																																	0													152.0	140.0	144.0					17																	27977792		2203	4300	6503	SO:0001583	missense	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1025G>A	17.37:g.27977792C>T	ENSP00000269033:p.Arg342Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.R342Q	ENST00000269033.3	37	c.1025	CCDS11253.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.175814	0.94807	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	T;T	0.32023	1.47;1.47	5.66	5.66	0.87406	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	L	0.53780	1.695	0.80722	D	1	P;P;P	0.49447	0.808;0.916;0.924	B;B;P	0.48334	0.296;0.179;0.574	T	0.30357	-0.9981	10	0.87932	D	0	-7.3133	20.1253	0.97977	0.0:1.0:0.0:0.0	.	369;342;342	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	Q	342;369;342	ENSP00000269033:R342Q;ENSP00000444743:R369Q	ENSP00000269033:R342Q	R	-	2	0	SSH2	25001918	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.832000	0.97577	0.655000	0.94253	CGA	SSH2	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat		0.428	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	C	NM_033389		27977792	-1	no_errors	ENST00000269033	ensembl	human	known	70_37	missense	SNP	1.000	T
ST6GAL2	84620	genome.wustl.edu	37	2	107460052	107460052	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:107460052C>T	ENST00000409382.3	-	2	992	c.382G>A	c.(382-384)Gat>Aat	p.D128N	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.D128N|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.D128N	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	128					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.D128N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TAGTCGTCATCCTCCGGGTAG	0.552																																																	1	Substitution - Missense(1)	skin(1)											79.0	94.0	89.0					2																	107460052		2201	4299	6500	SO:0001583	missense	84620			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.382G>A	2.37:g.107460052C>T	ENSP00000386942:p.Asp128Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.D128N	ENST00000409382.3	37	c.382	CCDS2073.1	2	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916987	0.33815	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.32753	2.46;2.46;1.44	5.64	2.65	0.31530	.	1.237730	0.05340	N	0.529861	T	0.22666	0.0547	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.11329	0.006;0.002	T	0.23940	-1.0174	10	0.29301	T	0.29	-11.5727	6.4969	0.22148	0.0:0.5515:0.2843:0.1641	.	128;128	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	N	128	ENSP00000355273:D128N;ENSP00000386942:D128N;ENSP00000387332:D128N	ENSP00000355273:D128N	D	-	1	0	ST6GAL2	106826484	0.008000	0.16893	0.230000	0.23976	0.886000	0.51366	1.047000	0.30367	0.709000	0.31976	0.655000	0.94253	GAT	ST6GAL2	-	NULL		0.552	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1	C	NM_032528		107460052	-1	no_errors	ENST00000361686	ensembl	human	known	70_37	missense	SNP	0.013	T
ST6GALNAC5	81849	genome.wustl.edu	37	1	77528829	77528829	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:77528829C>T	ENST00000477717.1	+	5	1184	c.949C>T	c.(949-951)Caa>Taa	p.Q317*		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	317					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TCACTTTTTTCAACCAGACTG	0.443																																																	0													113.0	107.0	109.0					1																	77528829		2203	4300	6503	SO:0001587	stop_gained	81849				CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.949C>T	1.37:g.77528829C>T	ENSP00000417583:p.Gln317*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AK82	Nonsense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.Q317*	ENST00000477717.1	37	c.949	CCDS673.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.522574	0.97633	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-38.4026	20.3422	0.98769	0.0:1.0:0.0:0.0	.	.	.	.	X	317;227	.	ENSP00000406658:Q227X	Q	+	1	0	ST6GALNAC5	77301417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.440000	0.80464	2.810000	0.96702	0.655000	0.94253	CAA	ST6GALNAC5	-	pirsf_Sialyl_trans		0.443	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC5	HGNC	protein_coding	OTTHUMT00000026692.2	C	NM_030965		77528829	+1	no_errors	ENST00000477717	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ST8SIA3	51046	genome.wustl.edu	37	18	55024207	55024207	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:55024207G>C	ENST00000324000.3	+	3	2400	c.366G>C	c.(364-366)cgG>cgC	p.R122R		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	122					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		ATAGTGTTCGGATTGGACAAC	0.333																																																	0													79.0	81.0	80.0					18																	55024207		2203	4300	6503	SO:0001819	synonymous_variant	51046			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.366G>C	18.37:g.55024207G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0F2|Q6B085|Q9NS41	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.R122	ENST00000324000.3	37	c.366	CCDS32834.1	18																																																																																			ST8SIA3	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.333	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ST8SIA3	HGNC	protein_coding	OTTHUMT00000449765.1	G	NM_015879		55024207	+1	no_errors	ENST00000324000	ensembl	human	known	70_37	silent	SNP	1.000	C
STAB1	23166	genome.wustl.edu	37	3	52549439	52549439	+	Splice_Site	SNP	G	G	C	rs145751447		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52549439G>C	ENST00000321725.6	+	37	3941	c.3865G>C	c.(3865-3867)Gac>Cac	p.D1289H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1289					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCGTTTCCAGGACACACCCAG	0.602																																																	0													66.0	62.0	64.0					3																	52549439		2202	4300	6502	SO:0001630	splice_region_variant	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3865-1G>C	3.37:g.52549439G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.D1289H	ENST00000321725.6	37	c.3865	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441590	0.25900	.	.	ENSG00000010327	ENST00000321725	T	0.03065	4.06	4.71	-0.447	0.12234	.	0.726345	0.13718	N	0.367605	T	0.02418	0.0074	N	0.24115	0.695	0.24927	N	0.991944	P	0.34780	0.468	B	0.32393	0.145	T	0.48293	-0.9048	9	.	.	.	.	7.6198	0.28179	0.5083:0.0:0.4917:0.0	.	1289	Q9NY15	STAB1_HUMAN	H	1289	ENSP00000312946:D1289H	.	D	+	1	0	STAB1	52524479	0.414000	0.25408	0.198000	0.23420	0.573000	0.36030	-0.019000	0.12546	0.002000	0.14630	0.563000	0.77884	GAC	STAB1	-	NULL		0.602	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	G	NM_015136	Missense_Mutation	52549439	+1	no_errors	ENST00000321725	ensembl	human	known	70_37	missense	SNP	0.535	C
STAG1	10274	genome.wustl.edu	37	3	136323236	136323236	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:136323236C>G	ENST00000383202.2	-	4	468	c.212G>C	c.(211-213)aGa>aCa	p.R71T	STAG1_ENST00000236698.5_Missense_Mutation_p.R71T|STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000480733.1_Missense_Mutation_p.R71T	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	71					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TCCATTAGCTCTTCCACGGCC	0.418																																																	0													129.0	123.0	125.0					3																	136323236		2203	4300	6503	SO:0001583	missense	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.212G>C	3.37:g.136323236C>G	ENSP00000372689:p.Arg71Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.R71T	ENST00000383202.2	37	c.212	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798467	0.50208	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000480733	T;T	0.25414	1.8;1.81	5.69	4.82	0.62117	.	0.212160	0.48767	D	0.000174	T	0.24470	0.0593	L	0.48877	1.53	0.80722	D	1	B;B;B	0.23735	0.09;0.039;0.001	B;B;B	0.19391	0.023;0.025;0.022	T	0.02533	-1.1145	10	0.33141	T	0.24	.	14.3253	0.66515	0.0:0.9281:0.0:0.0719	.	71;71;71	C9JJQ0;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	T	71	ENSP00000372689:R71T;ENSP00000236698:R71T	ENSP00000236698:R71T	R	-	2	0	STAG1	137805926	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.125000	0.57931	1.401000	0.46761	0.655000	0.94253	AGA	STAG1	-	NULL		0.418	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	C	NM_005862		136323236	-1	no_errors	ENST00000383202	ensembl	human	known	70_37	missense	SNP	1.000	G
STAG2	10735	genome.wustl.edu	37	X	123095675	123095675	+	5'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:123095675G>C	ENST00000371160.1	+	0	162				STAG2_ENST00000371145.3_5'UTR|RP1-315G1.3_ENST00000426367.1_lincRNA|STAG2_ENST00000354548.5_Intron|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Intron|STAG2_ENST00000371157.3_5'UTR|STAG2_ENST00000371144.3_5'UTR	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GATTGGCATCGATCTCTCCAT	0.607																																																	0																																										SO:0001623	5_prime_UTR_variant	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.-129G>C	X.37:g.123095675G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	RNA	SNP	-	NULL	ENST00000371160.1	37	NULL	CCDS14607.1	X																																																																																			STAG2	-	-		0.607	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	G	NM_006603		123095675	+1	no_errors	ENST00000466748	ensembl	human	putative	70_37	rna	SNP	1.000	C
STAM	8027	genome.wustl.edu	37	10	17750872	17750872	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:17750872C>G	ENST00000377524.3	+	13	1522	c.1307C>G	c.(1306-1308)tCt>tGt	p.S436C	STAM_ENST00000540523.1_Missense_Mutation_p.S325C	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	436					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GAGCAGCTGTCTTCTCTCAGC	0.572																																																	0													93.0	90.0	91.0					10																	17750872		2203	4300	6503	SO:0001583	missense	8027			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1307C>G	10.37:g.17750872C>G	ENSP00000366746:p.Ser436Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.S436C	ENST00000377524.3	37	c.1307	CCDS7122.1	10	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978381	0.74360	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.41758	1.29;0.99	5.68	5.68	0.88126	.	0.279004	0.40640	N	0.001044	T	0.48892	0.1525	L	0.44542	1.39	0.46725	D	0.999178	D;P	0.57571	0.98;0.698	P;B	0.49708	0.62;0.241	T	0.48103	-0.9064	10	0.62326	D	0.03	-11.4532	19.7782	0.96405	0.0:1.0:0.0:0.0	.	325;436	B4DZT2;Q92783	.;STAM1_HUMAN	C	436;325	ENSP00000366746:S436C;ENSP00000438073:S325C	ENSP00000366746:S436C	S	+	2	0	STAM	17790878	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	5.747000	0.68689	2.668000	0.90789	0.591000	0.81541	TCT	STAM	-	NULL		0.572	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM	HGNC	protein_coding	OTTHUMT00000047039.1	C	NM_003473		17750872	+1	no_errors	ENST00000377524	ensembl	human	known	70_37	missense	SNP	0.996	G
STAP1	26228	genome.wustl.edu	37	4	68447142	68447142	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:68447142G>C	ENST00000265404.2	+	5	565	c.483G>C	c.(481-483)gaG>gaC	p.E161D	STAP1_ENST00000396225.1_Missense_Mutation_p.E161D	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	161					intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TGGAAAAAGAGAAGGAACCAA	0.408																																																	0													227.0	206.0	213.0					4																	68447142		2203	4300	6503	SO:0001583	missense	26228			AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.483G>C	4.37:g.68447142G>C	ENSP00000265404:p.Glu161Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R980	Missense_Mutation	SNP	pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2	p.E161D	ENST00000265404.2	37	c.483	CCDS3515.1	4	.	.	.	.	.	.	.	.	.	.	G	7.428	0.638019	0.14386	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	T;T	0.47528	0.84;0.84	5.59	4.75	0.60458	.	0.659026	0.16170	N	0.226324	T	0.39655	0.1086	L	0.60455	1.87	0.31242	N	0.695036	P	0.35433	0.501	B	0.30401	0.115	T	0.41233	-0.9520	10	0.15499	T	0.54	-2.7045	10.9184	0.47150	0.0866:0.0:0.9134:0.0	.	161	Q9ULZ2	STAP1_HUMAN	D	161	ENSP00000265404:E161D;ENSP00000379527:E161D	ENSP00000265404:E161D	E	+	3	2	STAP1	68129737	0.969000	0.33509	0.978000	0.43139	0.113000	0.19764	1.302000	0.33459	1.523000	0.49018	0.650000	0.86243	GAG	STAP1	-	NULL		0.408	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAP1	HGNC	protein_coding	OTTHUMT00000251434.1	G	NM_012108		68447142	+1	no_errors	ENST00000265404	ensembl	human	known	70_37	missense	SNP	0.973	C
STARD5	80765	genome.wustl.edu	37	15	81605714	81605714	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:81605714G>C	ENST00000302824.6	-	6	550	c.525C>G	c.(523-525)ttC>ttG	p.F175L		NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	175	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						CGGTATGGAAGAATGTGACCA	0.567																																																	0													188.0	160.0	170.0					15																	81605714		2203	4300	6503	SO:0001583	missense	80765			AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"""StAR-related lipid transfer (START) domain containing"""	18065	protein-coding gene	gene with protein product		607050	"""START domain containing 5"""			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.525C>G	15.37:g.81605714G>C	ENSP00000304032:p.Phe175Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	P59094	Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.F175L	ENST00000302824.6	37	c.525	CCDS10318.1	15	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223447	0.58668	.	.	ENSG00000172345	ENST00000302824	T	0.75821	-0.97	5.07	4.15	0.48705	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.82346	0.5017	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.81872	-0.0733	10	0.02654	T	1	-4.8135	13.8255	0.63348	0.0745:0.0:0.9255:0.0	.	175	Q9NSY2	STAR5_HUMAN	L	175	ENSP00000304032:F175L	ENSP00000304032:F175L	F	-	3	2	STARD5	79392769	1.000000	0.71417	0.998000	0.56505	0.023000	0.10783	4.457000	0.60088	1.262000	0.44165	-0.258000	0.10820	TTC	STARD5	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.567	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD5	HGNC	protein_coding	OTTHUMT00000303950.2	G			81605714	-1	no_errors	ENST00000302824	ensembl	human	known	70_37	missense	SNP	1.000	C
STARD5	80765	genome.wustl.edu	37	15	81611704	81611704	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:81611704C>T	ENST00000302824.6	-	4	401	c.376G>A	c.(376-378)Gag>Aag	p.E126K	STARD5_ENST00000559913.1_5'Flank	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	126	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						GTCCCATCCTCATATCTCTTG	0.527																																																	0													239.0	236.0	237.0					15																	81611704		2203	4300	6503	SO:0001583	missense	80765			AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"""StAR-related lipid transfer (START) domain containing"""	18065	protein-coding gene	gene with protein product		607050	"""START domain containing 5"""			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.376G>A	15.37:g.81611704C>T	ENSP00000304032:p.Glu126Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	P59094	Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.E126K	ENST00000302824.6	37	c.376	CCDS10318.1	15	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255332	0.59321	.	.	ENSG00000172345	ENST00000302824	D	0.84589	-1.87	5.14	3.24	0.37175	Lipid-binding START (3);START-like domain (1);	0.187147	0.45606	D	0.000345	T	0.81697	0.4877	M	0.71036	2.16	0.58432	D	0.99999	B	0.27498	0.18	B	0.23419	0.046	T	0.77250	-0.2657	10	0.29301	T	0.29	-5.4238	10.7051	0.45950	0.0:0.838:0.0:0.162	.	126	Q9NSY2	STAR5_HUMAN	K	126	ENSP00000304032:E126K	ENSP00000304032:E126K	E	-	1	0	STARD5	79398759	0.997000	0.39634	0.786000	0.31890	0.836000	0.47400	3.987000	0.56944	1.155000	0.42497	0.491000	0.48974	GAG	STARD5	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.527	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD5	HGNC	protein_coding	OTTHUMT00000303950.2	C			81611704	-1	no_errors	ENST00000302824	ensembl	human	known	70_37	missense	SNP	0.976	T
STAT6	6778	genome.wustl.edu	37	12	57490477	57490477	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:57490477C>T	ENST00000300134.3	-	22	2747	c.2422G>A	c.(2422-2424)Gag>Aag	p.E808K	STAT6_ENST00000538913.2_Missense_Mutation_p.E698K|STAT6_ENST00000556155.1_Missense_Mutation_p.E808K|STAT6_ENST00000543873.2_Missense_Mutation_p.E808K|STAT6_ENST00000537215.2_Missense_Mutation_p.E698K|STAT6_ENST00000454075.3_Missense_Mutation_p.E808K	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	808					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCTTGCCCCTCCAGGAGAAGC	0.597																																																	0													38.0	42.0	41.0					12																	57490477		2203	4300	6503	SO:0001583	missense	6778			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.2422G>A	12.37:g.57490477C>T	ENSP00000300134:p.Glu808Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.E808K	ENST00000300134.3	37	c.2422	CCDS8931.1	12	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489898	0.84962	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721	D;D;D;D;D;D	0.93763	-3.0;-3.28;-3.0;-3.0;-3.28;-3.0	5.4	5.4	0.78164	.	0.000000	0.48286	D	0.000195	D	0.93520	0.7932	N	0.24115	0.695	0.37703	D	0.9243	D;P	0.63880	0.993;0.915	D;B	0.70935	0.971;0.438	D	0.95054	0.8189	10	0.62326	D	0.03	-23.4117	14.6799	0.69009	0.0:1.0:0.0:0.0	.	808;808	A8K4S9;P42226	.;STAT6_HUMAN	K	808;698;698;808;808;698;808;698	ENSP00000300134:E808K;ENSP00000445409:E698K;ENSP00000438451:E808K;ENSP00000451742:E808K;ENSP00000444530:E698K;ENSP00000401486:E808K	ENSP00000300134:E808K	E	-	1	0	STAT6	55776744	1.000000	0.71417	0.988000	0.46212	0.940000	0.58332	2.333000	0.43912	2.537000	0.85549	0.561000	0.74099	GAG	STAT6	-	NULL		0.597	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	C	NM_003153		57490477	-1	no_errors	ENST00000300134	ensembl	human	known	70_37	missense	SNP	1.000	T
STEAP1B	256227	genome.wustl.edu	37	7	22532205	22532205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:22532205C>T	ENST00000406890.2	-	4	778	c.684G>A	c.(682-684)tgG>tgA	p.W228*	STEAP1B_ENST00000404369.4_Nonsense_Mutation_p.W247*	NM_207342.2	NP_997225.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	228						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(2)	4						GAAATTCTCTCCATGTCAAAG	0.368																																																	0													19.0	23.0	22.0					7																	22532205		691	1589	2280	SO:0001587	stop_gained	256227				CCDS55094.1, CCDS56469.1	7p15.3	2011-05-19			ENSG00000105889	ENSG00000105889			41907	protein-coding gene	gene with protein product							Standard	NM_207342		Approved		uc010kum.2	Q6NZ63	OTTHUMG00000152529	ENST00000406890.2:c.684G>A	7.37:g.22532205C>T	ENSP00000385239:p.Trp228*	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MCI2	Nonsense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom	p.W228*	ENST00000406890.2	37	c.684	CCDS55094.1	7	.	.	.	.	.	.	.	.	.	.	c	29.8	5.040034	0.93630	.	.	ENSG00000105889	ENST00000406890;ENST00000404369;ENST00000424363	.	.	.	0.893	0.893	0.19236	.	0.000000	0.42964	U	0.000626	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1281	7.7632	0.28965	0.0:1.0:0.0:0.0	.	.	.	.	X	228;247;247	.	ENSP00000384370:W247X	W	-	3	0	STEAP1B	22498730	1.000000	0.71417	0.997000	0.53966	0.380000	0.30137	5.629000	0.67798	0.816000	0.34421	0.121000	0.15741	TGG	STEAP1B	-	pfam_Fe3_Rdtase_TM_dom		0.368	STEAP1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STEAP1B	HGNC	protein_coding	OTTHUMT00000326617.2	C			22532205	-1	no_errors	ENST00000406890	ensembl	human	known	70_37	nonsense	SNP	1.000	T
STK38	11329	genome.wustl.edu	37	6	36475283	36475283	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:36475283C>T	ENST00000229812.7	-	8	1051	c.766G>A	c.(766-768)Gat>Aat	p.D256N		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTACTGAAATCACTGGGGAGG	0.413																																					Colon(180;997 3561 16158)												0													278.0	294.0	288.0					6																	36475283		2203	4300	6503	SO:0001583	missense	11329				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.766G>A	6.37:g.36475283C>T	ENSP00000229812:p.Asp256Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.D256N	ENST00000229812.7	37	c.766	CCDS4822.1	6	.	.	.	.	.	.	.	.	.	.	C	34	5.295705	0.95574	.	.	ENSG00000112079	ENST00000229812	T	0.60920	0.15	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60753	0.2293	L	0.31526	0.94	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	T	0.60105	-0.7328	10	0.45353	T	0.12	.	20.0119	0.97458	0.0:1.0:0.0:0.0	.	256	Q15208	STK38_HUMAN	N	256	ENSP00000229812:D256N	ENSP00000229812:D256N	D	-	1	0	STK38	36583261	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.743000	0.85020	2.733000	0.93635	0.591000	0.81541	GAT	STK38	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.413	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38	HGNC	protein_coding	OTTHUMT00000040346.1	C	NM_007271		36475283	-1	no_errors	ENST00000229812	ensembl	human	known	70_37	missense	SNP	1.000	T
STK38L	23012	genome.wustl.edu	37	12	27475354	27475354	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:27475354C>T	ENST00000389032.3	+	14	1530	c.1361C>T	c.(1360-1362)tCt>tTt	p.S454F	STK38L_ENST00000539577.1_Missense_Mutation_p.S361F	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CAACGTGGCTCTATCCCCACC	0.433																																																	0													113.0	119.0	117.0					12																	27475354		2203	4300	6503	SO:0001583	missense	23012			AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.1361C>T	12.37:g.27475354C>T	ENSP00000373684:p.Ser454Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.S454F	ENST00000389032.3	37	c.1361	CCDS31761.1	12	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817817	0.50633	.	.	ENSG00000211455	ENST00000389032;ENST00000539577	T;T	0.59502	0.26;0.33	4.93	4.93	0.64822	.	0.192685	0.45361	D	0.000371	T	0.46483	0.1395	N	0.14661	0.345	0.53688	D	0.999972	B;B	0.20671	0.047;0.047	B;B	0.27500	0.08;0.049	T	0.47058	-0.9146	10	0.66056	D	0.02	.	18.5305	0.90990	0.0:1.0:0.0:0.0	.	361;454	B4E3J8;Q9Y2H1	.;ST38L_HUMAN	F	454;361	ENSP00000373684:S454F;ENSP00000446386:S361F	ENSP00000373684:S454F	S	+	2	0	STK38L	27366621	1.000000	0.71417	0.999000	0.59377	0.802000	0.45316	7.801000	0.85960	2.444000	0.82710	0.460000	0.39030	TCT	STK38L	-	NULL		0.433	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38L	HGNC	protein_coding	OTTHUMT00000403297.1	C	NM_015000		27475354	+1	no_errors	ENST00000389032	ensembl	human	known	70_37	missense	SNP	1.000	T
STRADB	55437	genome.wustl.edu	37	2	202344764	202344764	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:202344764G>C	ENST00000194530.3	+	12	1488	c.1123G>C	c.(1123-1125)Gaa>Caa	p.E375Q	STRADB_ENST00000392249.2_3'UTR	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	375					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GATGAAAGAAGAAAGCCAGGA	0.323																																																	0													81.0	79.0	80.0					2																	202344764		2203	4300	6503	SO:0001583	missense	55437			AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.1123G>C	2.37:g.202344764G>C	ENSP00000194530:p.Glu375Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5BKY7|Q9P1L0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E375Q	ENST00000194530.3	37	c.1123	CCDS2348.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.561|8.561	0.877722|0.877722	0.17395|0.17395	.|.	.|.	ENSG00000082146|ENSG00000082146	ENST00000194530;ENST00000539670;ENST00000392866|ENST00000415688	T|.	0.11604|.	2.76|.	5.52|5.52	3.74|3.74	0.42951|0.42951	Protein kinase-like domain (1);|.	0.234273|.	0.44902|.	N|.	0.000401|.	T|T	0.20495|0.20495	0.0493|0.0493	N|N	0.11560|0.11560	0.145|0.145	0.28505|0.28505	N|N	0.913812|0.913812	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.19321|0.19321	-1.0309|-1.0309	10|5	0.12766|.	T|.	0.61|.	.|.	8.9965|8.9965	0.36055|0.36055	0.0978:0.4664:0.4358:0.0|0.0978:0.4664:0.4358:0.0	.|.	375|.	Q9C0K7|.	STRAB_HUMAN|.	Q|T	375;375;237|45	ENSP00000194530:E375Q|.	ENSP00000194530:E375Q|.	E|R	+|+	1|2	0|0	STRADB|STRADB	202053009|202053009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	2.983000|2.983000	0.49345|0.49345	0.895000|0.895000	0.36342|0.36342	0.563000|0.563000	0.77884|0.77884	GAA|AGA	STRADB	-	superfamily_Kinase-like_dom		0.323	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADB	HGNC	protein_coding	OTTHUMT00000256297.1	G	NM_018571		202344764	+1	no_errors	ENST00000194530	ensembl	human	known	70_37	missense	SNP	1.000	C
STRADB	55437	genome.wustl.edu	37	2	202344895	202344895	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:202344895C>T	ENST00000194530.3	+	12	1619	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	STRADB_ENST00000392249.2_3'UTR	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	418					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ACTGGGAATTCTAGGGCTGCC	0.378																																																	0													130.0	132.0	132.0					2																	202344895		2203	4300	6503	SO:0001819	synonymous_variant	55437			AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.1254C>T	2.37:g.202344895C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5BKY7|Q9P1L0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F418	ENST00000194530.3	37	c.1254	CCDS2348.1	2																																																																																			STRADB	-	NULL		0.378	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADB	HGNC	protein_coding	OTTHUMT00000256297.1	C	NM_018571		202344895	+1	no_errors	ENST00000194530	ensembl	human	known	70_37	silent	SNP	1.000	T
STXBP4	252983	genome.wustl.edu	37	17	53150329	53150329	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:53150329G>C	ENST00000376352.2	+	13	1287	c.1080G>C	c.(1078-1080)caG>caC	p.Q360H	STXBP4_ENST00000434978.2_Missense_Mutation_p.Q338H	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	360					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAGCTGCTCAGAGACAGGCAC	0.418																																																	0													113.0	102.0	106.0					17																	53150329		2203	4300	6503	SO:0001583	missense	252983			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1080G>C	17.37:g.53150329G>C	ENSP00000365530:p.Gln360His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVZ5	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.Q360H	ENST00000376352.2	37	c.1080	CCDS11584.2	17	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189917	0.57909	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	T;T	0.50548	0.74;0.74	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.69243	-0.5196	10	0.33940	T	0.23	-8.9246	18.5196	0.90947	0.0:0.0:1.0:0.0	.	338;360	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	H	360;338	ENSP00000365530:Q360H;ENSP00000391087:Q338H	ENSP00000365530:Q360H	Q	+	3	2	STXBP4	50505328	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	3.263000	0.51546	2.593000	0.87608	0.650000	0.86243	CAG	STXBP4	-	NULL		0.418	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP4	HGNC	protein_coding	OTTHUMT00000157184.1	G	NM_178509		53150329	+1	no_errors	ENST00000376352	ensembl	human	known	70_37	missense	SNP	1.000	C
SUDS3	64426	genome.wustl.edu	37	12	118852228	118852228	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:118852228C>G	ENST00000543473.1	+	12	1289	c.977C>G	c.(976-978)tCa>tGa	p.S326*	SUDS3_ENST00000397564.2_Nonsense_Mutation_p.S327*	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	326					apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGCCGGCGCTCAGCTGCTTGA	0.483																																																	0													27.0	25.0	26.0					12																	118852228		1868	4102	5970	SO:0001587	stop_gained	64426			AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"""sin3A-associated protein, 45kDa"""	608250	"""suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"""			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.977C>G	12.37:g.118852228C>G	ENSP00000443988:p.Ser326*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4KMQ5|Q8N6H0|Q9H8D2	Nonsense_Mutation	SNP	pfam_Sds3	p.S327*	ENST00000543473.1	37	c.980	CCDS44993.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.578859	0.96565	.	.	ENSG00000111707	ENST00000543473;ENST00000397564	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.44295	D	0.997164	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.5809	19.4422	0.94825	0.0:1.0:0.0:0.0	.	.	.	.	X	326;327	.	ENSP00000380695:S327X	S	+	2	0	SUDS3	117336611	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.255000	0.78338	2.688000	0.91661	0.655000	0.94253	TCA	SUDS3	-	NULL		0.483	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SUDS3	HGNC	protein_coding	OTTHUMT00000401504.1	C	NM_022491		118852228	+1	no_errors	ENST00000397564	ensembl	human	known	70_37	nonsense	SNP	1.000	G
SURF2	6835	genome.wustl.edu	37	9	136223814	136223814	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:136223814G>C	ENST00000371964.4	+	2	144	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	SURF2_ENST00000495524.1_3'UTR|SURF1_ENST00000495952.1_5'Flank|SURF1_ENST00000371974.3_5'Flank	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	35						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		GACAGGTCACGAGCTGCCCTG	0.711																																																	0													13.0	15.0	15.0					9																	136223814		2174	4255	6429	SO:0001583	missense	6835				CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"""surfeit locus protein 2"""	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.103G>C	9.37:g.136223814G>C	ENSP00000361032:p.Glu35Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IBP9|Q96CD1	Missense_Mutation	SNP	pfam_Surf2	p.E35Q	ENST00000371964.4	37	c.103	CCDS6967.1	9	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937480	0.73557	.	.	ENSG00000148291	ENST00000371964	T	0.55930	0.49	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.76601	0.4010	M	0.86953	2.85	0.53688	D	0.999976	D	0.89917	1.0	D	0.85130	0.997	T	0.81765	-0.0783	10	0.72032	D	0.01	-1.6475	17.027	0.86450	0.0:0.0:1.0:0.0	.	35	Q15527	SURF2_HUMAN	Q	35	ENSP00000361032:E35Q	ENSP00000361032:E35Q	E	+	1	0	SURF2	135213635	1.000000	0.71417	0.996000	0.52242	0.017000	0.09413	7.588000	0.82629	2.249000	0.74217	0.462000	0.41574	GAG	SURF2	-	pfam_Surf2		0.711	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF2	HGNC	protein_coding	OTTHUMT00000054883.1	G	NM_017503		136223814	+1	no_errors	ENST00000371964	ensembl	human	known	70_37	missense	SNP	1.000	C
SURF2	6835	genome.wustl.edu	37	9	136227994	136227994	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:136227994C>T	ENST00000371964.4	+	6	791	c.750C>T	c.(748-750)agC>agT	p.S250S	SURF4_ENST00000467910.1_5'Flank	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	250						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S250S(1)		breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		AGAGCTTCAGCTCCTGTAAAC	0.448																																																	1	Substitution - coding silent(1)	large_intestine(1)											148.0	150.0	149.0					9																	136227994		2203	4300	6503	SO:0001819	synonymous_variant	6835				CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"""surfeit locus protein 2"""	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.750C>T	9.37:g.136227994C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IBP9|Q96CD1	Silent	SNP	pfam_Surf2	p.S250	ENST00000371964.4	37	c.750	CCDS6967.1	9																																																																																			SURF2	-	pfam_Surf2		0.448	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF2	HGNC	protein_coding	OTTHUMT00000054883.1	C	NM_017503		136227994	+1	no_errors	ENST00000371964	ensembl	human	known	70_37	silent	SNP	0.004	T
SUSD4	55061	genome.wustl.edu	37	1	223408322	223408322	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:223408322G>C	ENST00000343846.3	-	5	1358				SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000494793.2_Intron|SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000344029.6_Nonsense_Mutation_p.S282*|SUSD4_ENST00000454695.2_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4							integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGTGCTAGTTGAGGAACAGGT	0.428																																																	0													149.0	146.0	147.0					1																	223408322		2203	4300	6503	SO:0001627	intron_variant	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.725-5592C>G	1.37:g.223408322G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S282*	ENST00000343846.3	37	c.845	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481079	0.26598	.	.	ENSG00000143502	ENST00000344029	.	.	.	2.32	-0.0801	0.13708	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	4.0601	0.09834	0.1604:0.3134:0.5262:0.0	.	.	.	.	X	282	.	ENSP00000339926:S282X	S	-	2	0	SUSD4	221474945	0.000000	0.05858	0.001000	0.08648	0.129000	0.20672	-1.556000	0.02168	-0.227000	0.09884	-0.463000	0.05309	TCA	SUSD4	-	NULL		0.428	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	G	NM_017982		223408322	-1	no_errors	ENST00000344029	ensembl	human	known	70_37	nonsense	SNP	0.003	C
SUV420H1	51111	genome.wustl.edu	37	11	67933407	67933407	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:67933407C>T	ENST00000304363.4	-	10	1528				SUV420H1_ENST00000402789.1_Missense_Mutation_p.E395K|SUV420H1_ENST00000401547.2_3'UTR|SUV420H1_ENST00000405515.1_3'UTR	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)						histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CCCTTTTCTTCAGGATTCTCT	0.463																																																	0													162.0	150.0	154.0					11																	67933407		873	1985	2858	SO:0001627	intron_variant	51111			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1174+1041G>A	11.37:g.67933407C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.E395K	ENST00000304363.4	37	c.1183	CCDS31623.1	11	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564346	0.45694	.	.	ENSG00000110066	ENST00000402789	T	0.45668	0.89	4.55	-0.893	0.10567	.	.	.	.	.	T	0.20170	0.0485	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23404	-1.0189	8	0.17832	T	0.49	.	3.7048	0.08397	0.1672:0.4832:0.0:0.3497	.	395	B5MCB3	.	K	395	ENSP00000385005:E395K	ENSP00000385005:E395K	E	-	1	0	SUV420H1	67689983	0.001000	0.12720	0.000000	0.03702	0.946000	0.59487	0.539000	0.23175	-0.140000	0.11394	0.655000	0.94253	GAA	SUV420H1	-	NULL		0.463	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H1	HGNC	protein_coding	OTTHUMT00000318319.1	C	NM_017635		67933407	-1	no_errors	ENST00000402789	ensembl	human	putative	70_37	missense	SNP	0.000	T
SV2C	22987	genome.wustl.edu	37	5	75428068	75428068	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:75428068G>C	ENST00000502798.2	+	2	935	c.493G>C	c.(493-495)Gac>Cac	p.D165H	SV2C_ENST00000322285.7_Missense_Mutation_p.D165H	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	165					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCTTATGGCAGACGGTGTAGA	0.517																																																	0													187.0	180.0	182.0					5																	75428068		2036	4185	6221	SO:0001583	missense	22987			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.493G>C	5.37:g.75428068G>C	ENSP00000423541:p.Asp165His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q496K1|Q9UPU8	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	p.D165H	ENST00000502798.2	37	c.493	CCDS43331.1	5	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728549	0.69074	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.47869	0.83;0.83	5.9	5.04	0.67666	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.71592	0.3358	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76222	-0.3038	10	0.54805	T	0.06	-22.14	14.9203	0.70832	0.0684:0.0:0.9316:0.0	.	165	Q496J9	SV2C_HUMAN	H	165	ENSP00000423541:D165H;ENSP00000316983:D165H	ENSP00000316983:D165H	D	+	1	0	SV2C	75463824	1.000000	0.71417	0.204000	0.23530	0.783000	0.44284	9.869000	0.99810	1.511000	0.48818	0.655000	0.94253	GAC	SV2C	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata		0.517	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	HGNC	protein_coding	OTTHUMT00000368700.4	G			75428068	+1	no_errors	ENST00000502798	ensembl	human	known	70_37	missense	SNP	0.999	C
SYBU	55638	genome.wustl.edu	37	8	110587893	110587893	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:110587893C>T	ENST00000422135.1	-	8	1749	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	SYBU_ENST00000528647.1_Missense_Mutation_p.D411N|SYBU_ENST00000529690.1_Missense_Mutation_p.D282N|SYBU_ENST00000399066.3_Missense_Mutation_p.D409N|SYBU_ENST00000533895.1_Missense_Mutation_p.D411N|SYBU_ENST00000276646.9_Missense_Mutation_p.D412N|SYBU_ENST00000533171.1_Missense_Mutation_p.D412N|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000424158.2_Missense_Mutation_p.D417N|SYBU_ENST00000529175.1_Missense_Mutation_p.D206N|SYBU_ENST00000440310.1_Missense_Mutation_p.D412N|SYBU_ENST00000433638.1_Missense_Mutation_p.D412N|SYBU_ENST00000528331.1_Missense_Mutation_p.D293N|SYBU_ENST00000408908.2_Missense_Mutation_p.D412N|SYBU_ENST00000533065.1_Missense_Mutation_p.D293N|SYBU_ENST00000532779.1_Missense_Mutation_p.D344N|SYBU_ENST00000408889.3_Missense_Mutation_p.D293N|SYBU_ENST00000419099.1_Missense_Mutation_p.D411N|SYBU_ENST00000446070.2_Missense_Mutation_p.D411N	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	412	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GATAACCCATCTGCCATTGTG	0.532																																																	0													101.0	100.0	101.0					8																	110587893		1939	4145	6084	SO:0001583	missense	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1234G>A	8.37:g.110587893C>T	ENSP00000407118:p.Asp412Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	NULL	p.D412N	ENST00000422135.1	37	c.1234	CCDS47912.1	8	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016818	0.54576	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.89	5.01	0.66863	.	0.681414	0.16075	N	0.230791	T	0.50000	0.1590	L	0.59436	1.845	0.21184	N	0.999769	P;P;P;P;P	0.46142	0.873;0.787;0.76;0.787;0.675	P;B;P;B;B	0.50231	0.447;0.372;0.635;0.372;0.372	T	0.40346	-0.9568	9	0.35671	T	0.21	-11.0051	13.5497	0.61726	0.0:0.9257:0.0:0.0743	.	282;344;411;412;409	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	N	411;417;344;409;411;293;206;412;411;412;411;412;412;412;293;293;282;412	.	ENSP00000276646:D412N	D	-	1	0	SYBU	110657069	0.614000	0.27017	0.074000	0.20217	0.441000	0.31987	3.301000	0.51842	2.791000	0.96007	0.591000	0.81541	GAT	SYBU	-	NULL		0.532	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYBU	HGNC	protein_coding	OTTHUMT00000385501.1	C	NM_017786		110587893	-1	no_errors	ENST00000276646	ensembl	human	known	70_37	missense	SNP	0.412	T
SYBU	55638	genome.wustl.edu	37	8	110587935	110587935	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:110587935C>T	ENST00000422135.1	-	8	1707	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	SYBU_ENST00000528647.1_Missense_Mutation_p.E397K|SYBU_ENST00000529690.1_Missense_Mutation_p.E268K|SYBU_ENST00000399066.3_Missense_Mutation_p.E395K|SYBU_ENST00000533895.1_Missense_Mutation_p.E397K|SYBU_ENST00000276646.9_Missense_Mutation_p.E398K|SYBU_ENST00000533171.1_Missense_Mutation_p.E398K|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000424158.2_Missense_Mutation_p.E403K|SYBU_ENST00000529175.1_Missense_Mutation_p.E192K|SYBU_ENST00000440310.1_Missense_Mutation_p.E398K|SYBU_ENST00000433638.1_Missense_Mutation_p.E398K|SYBU_ENST00000528331.1_Missense_Mutation_p.E279K|SYBU_ENST00000408908.2_Missense_Mutation_p.E398K|SYBU_ENST00000533065.1_Missense_Mutation_p.E279K|SYBU_ENST00000532779.1_Missense_Mutation_p.E330K|SYBU_ENST00000408889.3_Missense_Mutation_p.E279K|SYBU_ENST00000419099.1_Missense_Mutation_p.E397K|SYBU_ENST00000446070.2_Missense_Mutation_p.E397K	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	398	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AAGCTCTTCTCTGGGGAATCA	0.542																																																	0													82.0	85.0	84.0					8																	110587935		1960	4149	6109	SO:0001583	missense	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1192G>A	8.37:g.110587935C>T	ENSP00000407118:p.Glu398Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	NULL	p.E398K	ENST00000422135.1	37	c.1192	CCDS47912.1	8	.	.	.	.	.	.	.	.	.	.	C	3.257	-0.152058	0.06585	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.73	3.0	0.34707	.	0.515665	0.22411	N	0.060410	T	0.39332	0.1074	L	0.52364	1.645	0.09310	N	1	B;B;B;B;B	0.10296	0.002;0.003;0.0;0.001;0.001	B;B;B;B;B	0.09377	0.004;0.003;0.004;0.003;0.003	T	0.24225	-1.0166	9	0.30078	T	0.28	-4.224	10.2447	0.43334	0.0:0.7932:0.0:0.2068	.	268;330;397;398;395	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	K	397;403;330;395;397;279;192;398;397;398;397;398;398;398;279;279;268;398	.	ENSP00000276646:E398K	E	-	1	0	SYBU	110657111	0.022000	0.18835	0.001000	0.08648	0.144000	0.21451	2.682000	0.46934	0.371000	0.24564	-0.229000	0.12294	GAG	SYBU	-	NULL		0.542	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYBU	HGNC	protein_coding	OTTHUMT00000385501.1	C	NM_017786		110587935	-1	no_errors	ENST00000276646	ensembl	human	known	70_37	missense	SNP	0.007	T
SYBU	55638	genome.wustl.edu	37	8	110654959	110654959	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:110654959G>C	ENST00000422135.1	-	3	742	c.227C>G	c.(226-228)tCa>tGa	p.S76*	SYBU_ENST00000528647.1_Nonsense_Mutation_p.S75*|SYBU_ENST00000399066.3_Nonsense_Mutation_p.S73*|SYBU_ENST00000533895.1_Nonsense_Mutation_p.S75*|SYBU_ENST00000276646.9_Nonsense_Mutation_p.S76*|SYBU_ENST00000533171.1_Nonsense_Mutation_p.S76*|RP11-422N16.3_ENST00000499579.1_5'Flank|SYBU_ENST00000424158.2_Nonsense_Mutation_p.S81*|SYBU_ENST00000440310.1_Nonsense_Mutation_p.S76*|SYBU_ENST00000433638.1_Nonsense_Mutation_p.S76*|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000408908.2_Nonsense_Mutation_p.S76*|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000419099.1_Nonsense_Mutation_p.S75*|SYBU_ENST00000446070.2_Nonsense_Mutation_p.S75*	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	76	Ser-rich.|Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TACTGTACCTGAGCAGAAGCT	0.577																																																	0													50.0	53.0	52.0					8																	110654959		1996	4157	6153	SO:0001587	stop_gained	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.227C>G	8.37:g.110654959G>C	ENSP00000407118:p.Ser76*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Nonsense_Mutation	SNP	NULL	p.S76*	ENST00000422135.1	37	c.227	CCDS47912.1	8	.	.	.	.	.	.	.	.	.	.	G	40	8.192826	0.98699	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000399066;ENST00000446070;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000533171;ENST00000529190;ENST00000533821;ENST00000534501;ENST00000524720;ENST00000534184;ENST00000528716;ENST00000526302;ENST00000534578	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.9885	18.3732	0.90420	0.0:0.0:1.0:0.0	.	.	.	.	X	75;81;73;75;76;75;76;75;76;76;76;76;75;75;76;76;75;76;76;76	.	ENSP00000276646:S76X	S	-	2	0	SYBU	110724135	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.266000	0.89871	2.941000	0.99782	0.655000	0.94253	TCA	SYBU	-	NULL		0.577	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYBU	HGNC	protein_coding	OTTHUMT00000385501.1	G	NM_017786		110654959	-1	no_errors	ENST00000276646	ensembl	human	known	70_37	nonsense	SNP	1.000	C
SYDE1	85360	genome.wustl.edu	37	19	15223195	15223195	+	Silent	SNP	C	C	T	rs138928655		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:15223195C>T	ENST00000342784.2	+	7	1648	c.1617C>T	c.(1615-1617)gtC>gtT	p.V539V	SYDE1_ENST00000600252.1_Silent_p.V196V|SYDE1_ENST00000600440.1_Silent_p.V472V	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	539	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						TGCGCCTCGTCTCCTCCTTCC	0.637																																																	0								C		1,4405		0,1,2202	69.0	51.0	57.0		1617	3.6	1.0	19	dbSNP_134	57	0,8598		0,0,4299	no	coding-synonymous	SYDE1	NM_033025.4		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		539/736	15223195	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	85360			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1617C>T	19.37:g.15223195C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7L2I8|Q8N6J2|Q9H8K4	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.V539	ENST00000342784.2	37	c.1617	CCDS12324.1	19																																																																																			SYDE1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.637	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	C	NM_033025		15223195	+1	no_errors	ENST00000342784	ensembl	human	known	70_37	silent	SNP	1.000	T
SYDE2	84144	genome.wustl.edu	37	1	85656076	85656076	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:85656076C>T	ENST00000341460.5	-	2	1154	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	369					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TACCATATTTCTCCTTCATCA	0.408																																																	0													87.0	86.0	87.0					1																	85656076		2026	4187	6213	SO:0001583	missense	84144			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1105G>A	1.37:g.85656076C>T	ENSP00000340594:p.Glu369Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E369K	ENST00000341460.5	37	c.1105	CCDS44169.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.413127	0.96072	.	.	ENSG00000097096	ENST00000341460	T	0.19669	2.13	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.89917	0.995;1.0	D;D	0.74674	0.914;0.984	T	0.33343	-0.9872	10	0.87932	D	0	.	20.3861	0.98944	0.0:1.0:0.0:0.0	.	369;369	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	K	369	ENSP00000340594:E369K	ENSP00000340594:E369K	E	-	1	0	SYDE2	85428664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.999000	0.76283	2.825000	0.97269	0.585000	0.79938	GAA	SYDE2	-	NULL		0.408	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE2	HGNC	protein_coding	OTTHUMT00000127989.2	C			85656076	-1	no_errors	ENST00000341460	ensembl	human	known	70_37	missense	SNP	1.000	T
SYNGAP1	8831	genome.wustl.edu	37	6	33420137	33420137	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:33420137C>T	ENST00000418600.2	+	0	4587				SYNGAP1_ENST00000496374.1_3'UTR|ZBTB9_ENST00000395064.2_5'Flank	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1						dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						ATTTTGGCCTCCCCTGCCCCC	0.582																																																	0																																										SO:0001624	3_prime_UTR_variant	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.*454C>T	6.37:g.33420137C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	RNA	SNP	-	NULL	ENST00000418600.2	37	NULL	CCDS34434.2	6																																																																																			SYNGAP1	-	-		0.582	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	HGNC	protein_coding	OTTHUMT00000076151.4	C	XM_166407		33420137	+1	no_errors	ENST00000496374	ensembl	human	known	70_37	rna	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152646242	152646242	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:152646242C>G	ENST00000367255.5	-	81	16235	c.15634G>C	c.(15634-15636)Gag>Cag	p.E5212Q	SYNE1_ENST00000341594.5_Missense_Mutation_p.E4905Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E5141Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E5212Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E5141Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5212					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCGTCCACTCATCCACTGCA	0.512										HNSCC(10;0.0054)																																							0													176.0	148.0	158.0					6																	152646242		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15634G>C	6.37:g.152646242C>G	ENSP00000356224:p.Glu5212Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E5212Q	ENST00000367255.5	37	c.15634	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958974	0.34565	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.81	5.81	0.92471	.	0.211412	0.32343	N	0.006224	T	0.36413	0.0966	M	0.81942	2.565	0.80722	D	1	D;P;P;P	0.55800	0.973;0.679;0.679;0.903	P;B;B;B	0.52646	0.705;0.218;0.218;0.39	T	0.12319	-1.0552	10	0.24483	T	0.36	.	14.2643	0.66107	0.0:0.9293:0.0:0.0707	.	5212;5212;5212;5141	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	5212;5141;5212;5141;4905	ENSP00000356224:E5212Q;ENSP00000396024:E5141Q;ENSP00000265368:E5212Q;ENSP00000390975:E5141Q;ENSP00000341887:E4905Q	ENSP00000265368:E5212Q	E	-	1	0	SYNE1	152687935	1.000000	0.71417	0.936000	0.37596	0.321000	0.28281	3.729000	0.54999	2.746000	0.94184	0.591000	0.81541	GAG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152646242	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	G
SYNGR1	9145	genome.wustl.edu	37	22	39770506	39770506	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:39770506C>G	ENST00000328933.5	+	2	300	c.285C>G	c.(283-285)atC>atG	p.I95M	SYNGR1_ENST00000406293.3_Missense_Mutation_p.I95M|SYNGR1_ENST00000216155.7_Missense_Mutation_p.I95M|SYNGR1_ENST00000318801.4_Missense_Mutation_p.I95M|SYNGR1_ENST00000381535.4_Missense_Mutation_p.I96M	NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	95	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TCCCGCAGATCAGCAGCGTCA	0.647																																																	0													130.0	88.0	102.0					22																	39770506		2203	4300	6503	SO:0001583	missense	9145			AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.285C>G	22.37:g.39770506C>G	ENSP00000332287:p.Ile95Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Missense_Mutation	SNP	pfam_MARVEL-like_dom,pirsf_Synaptogyrin	p.I95M	ENST00000328933.5	37	c.285	CCDS13989.1	22	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222905	0.79464	.	.	ENSG00000100321	ENST00000318801;ENST00000216155;ENST00000406293;ENST00000328933;ENST00000381535	T;T;T;T	0.68331	0.66;0.65;0.67;-0.32	5.18	4.15	0.48705	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	M	0.62723	1.935	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.985;1.0	D;P;D	0.91635	0.999;0.81;0.999	T	0.76724	-0.2854	10	0.39692	T	0.17	.	12.8817	0.58020	0.296:0.704:0.0:0.0	.	96;95;95	O43759-3;O43759;O43759-2	.;SNG1_HUMAN;.	M	95;95;95;95;96	ENSP00000318845:I95M;ENSP00000216155:I95M;ENSP00000385447:I95M;ENSP00000332287:I95M	ENSP00000216155:I95M	I	+	3	3	SYNGR1	38100452	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.603000	0.46266	1.135000	0.42183	0.561000	0.74099	ATC	SYNGR1	-	pfam_MARVEL-like_dom,pirsf_Synaptogyrin		0.647	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGR1	HGNC	protein_coding	OTTHUMT00000075866.2	C	NM_004711		39770506	+1	no_errors	ENST00000328933	ensembl	human	known	70_37	missense	SNP	1.000	G
SYNJ2	8871	genome.wustl.edu	37	6	158487619	158487619	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:158487619G>C	ENST00000355585.4	+	12	1744	c.1669G>C	c.(1669-1671)Gac>Cac	p.D557H	SYNJ2_ENST00000449859.2_Missense_Mutation_p.D485H|SYNJ2_ENST00000367122.2_Missense_Mutation_p.D557H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.D557H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	557					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGAGCTGACAGACTGGCTGCT	0.572																																																	0													72.0	67.0	69.0					6																	158487619		2203	4300	6503	SO:0001583	missense	8871			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1669G>C	6.37:g.158487619G>C	ENSP00000347792:p.Asp557His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.D557H	ENST00000355585.4	37	c.1669	CCDS5254.1	6	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444327	0.63178	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449859	T;T;T;D	0.95724	1.29;1.29;1.29;-3.79	5.27	3.44	0.39384	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.421347	0.22166	N	0.063704	D	0.96679	0.8916	M	0.85041	2.73	0.48632	D	0.999688	D;P;D;D	0.65815	0.989;0.759;0.995;0.989	P;P;D;D	0.66716	0.815;0.694;0.946;0.91	D	0.96293	0.9215	10	0.62326	D	0.03	.	10.6656	0.45728	0.0724:0.1329:0.7947:0.0	.	485;557;557;557	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	H	557;557;557;485	ENSP00000356089:D557H;ENSP00000356088:D557H;ENSP00000347792:D557H;ENSP00000388371:D485H	ENSP00000347792:D557H	D	+	1	0	SYNJ2	158407607	1.000000	0.71417	0.815000	0.32552	0.320000	0.28249	7.889000	0.87307	0.857000	0.35407	0.374000	0.22700	GAC	SYNJ2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.572	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	G			158487619	+1	no_errors	ENST00000355585	ensembl	human	known	70_37	missense	SNP	1.000	C
SYNJ2	8871	genome.wustl.edu	37	6	158492751	158492751	+	Silent	SNP	G	G	C	rs114458065	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:158492751G>C	ENST00000355585.4	+	15	2133	c.2058G>C	c.(2056-2058)ctG>ctC	p.L686L	SYNJ2_ENST00000367122.2_Silent_p.L686L|SYNJ2_ENST00000367121.3_Silent_p.L686L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	686					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTAGTCACCTGACGGCCGGGC	0.612																																																	0													81.0	76.0	78.0					6																	158492751		2203	4300	6503	SO:0001819	synonymous_variant	8871			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2058G>C	6.37:g.158492751G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.L686	ENST00000355585.4	37	c.2058	CCDS5254.1	6																																																																																			SYNJ2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.612	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	G			158492751	+1	no_errors	ENST00000355585	ensembl	human	known	70_37	silent	SNP	1.000	C
SYT11	23208	genome.wustl.edu	37	1	155851212	155851212	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155851212C>G	ENST00000368324.4	+	4	1462	c.1209C>G	c.(1207-1209)gtC>gtG	p.V403V	SYT11_ENST00000539162.1_Silent_p.V96V	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	403					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CACACAGTGTCACAGCCAGTG	0.572																																																	0													107.0	113.0	111.0					1																	155851212		2203	4300	6503	SO:0001819	synonymous_variant	23208			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1209C>G	1.37:g.155851212C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.V403	ENST00000368324.4	37	c.1209	CCDS1122.1	1																																																																																			SYT11	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.572	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT11	HGNC	protein_coding	OTTHUMT00000039597.1	C	NM_152280		155851212	+1	no_errors	ENST00000368324	ensembl	human	known	70_37	silent	SNP	1.000	G
SYT11	23208	genome.wustl.edu	37	1	155851247	155851247	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155851247G>A	ENST00000368324.4	+	4	1497	c.1244G>A	c.(1243-1245)tGc>tAc	p.C415Y	SYT11_ENST00000539162.1_Missense_Mutation_p.C108Y	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	415					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			AGAGAGGTCTGCGAGAGCCCC	0.597																																																	0													55.0	63.0	61.0					1																	155851247		2203	4300	6503	SO:0001583	missense	23208			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1244G>A	1.37:g.155851247G>A	ENSP00000357307:p.Cys415Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.C415Y	ENST00000368324.4	37	c.1244	CCDS1122.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574847	0.86542	.	.	ENSG00000132718	ENST00000368324;ENST00000539162	T;T	0.71103	-0.54;-0.54	5.27	5.27	0.74061	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81014	0.4735	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82153	-0.0598	10	0.87932	D	0	.	18.6819	0.91549	0.0:0.0:1.0:0.0	.	415	Q9BT88	SYT11_HUMAN	Y	415;108	ENSP00000357307:C415Y;ENSP00000441657:C108Y	ENSP00000357307:C415Y	C	+	2	0	SYT11	154117871	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.790000	0.85794	2.748000	0.94277	0.655000	0.94253	TGC	SYT11	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.597	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT11	HGNC	protein_coding	OTTHUMT00000039597.1	G	NM_152280		155851247	+1	no_errors	ENST00000368324	ensembl	human	known	70_37	missense	SNP	1.000	A
SYT11	23208	genome.wustl.edu	37	1	155851251	155851251	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155851251G>A	ENST00000368324.4	+	4	1501	c.1248G>A	c.(1246-1248)gaG>gaA	p.E416E	SYT11_ENST00000539162.1_Silent_p.E109E	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	416					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			AGGTCTGCGAGAGCCCCCGCA	0.602																																																	0													50.0	58.0	55.0					1																	155851251		2203	4300	6503	SO:0001819	synonymous_variant	23208			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1248G>A	1.37:g.155851251G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.E416	ENST00000368324.4	37	c.1248	CCDS1122.1	1																																																																																			SYT11	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.602	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT11	HGNC	protein_coding	OTTHUMT00000039597.1	G	NM_152280		155851251	+1	no_errors	ENST00000368324	ensembl	human	known	70_37	silent	SNP	1.000	A
SYT12	91683	genome.wustl.edu	37	11	66807534	66807534	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:66807534G>C	ENST00000393946.2	+	7	1643	c.481G>C	c.(481-483)Gag>Cag	p.E161Q	SYT12_ENST00000527043.1_Missense_Mutation_p.E161Q|SYT12_ENST00000525457.1_Missense_Mutation_p.E161Q|SYT12_ENST00000526281.1_3'UTR			Q8IV01	SYT12_HUMAN	synaptotagmin XII	161						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GGTGAGCATGGAGTACGACAC	0.632																																					Ovarian(65;2862 3307)												0													74.0	68.0	70.0					11																	66807534		2200	4295	6495	SO:0001583	missense	91683			AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.481G>C	11.37:g.66807534G>C	ENSP00000377520:p.Glu161Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E161Q	ENST00000393946.2	37	c.481	CCDS8154.1	11	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524891	0.27299	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.72282	-0.64;-0.64;-0.64	5.63	2.55	0.30701	C2 calcium/lipid-binding domain, CaLB (1);	0.319686	0.33199	N	0.005171	T	0.51719	0.1691	N	0.24115	0.695	0.40808	D	0.983394	B	0.10296	0.003	B	0.10450	0.005	T	0.43734	-0.9373	10	0.19590	T	0.45	.	9.8078	0.40803	0.0779:0.2665:0.6556:0.0	.	161	Q8IV01	SYT12_HUMAN	Q	161	ENSP00000377520:E161Q;ENSP00000431400:E161Q;ENSP00000435316:E161Q	ENSP00000377520:E161Q	E	+	1	0	SYT12	66564110	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	4.776000	0.62354	1.358000	0.45922	0.462000	0.41574	GAG	SYT12	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.632	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT12	HGNC	protein_coding	OTTHUMT00000393129.1	G	NM_177963		66807534	+1	no_errors	ENST00000393946	ensembl	human	known	70_37	missense	SNP	1.000	C
SYT16	83851	genome.wustl.edu	37	14	62536415	62536415	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:62536415G>C	ENST00000430451.2	+	2	815	c.618G>C	c.(616-618)caG>caC	p.Q206H	SYT16_ENST00000446982.2_Missense_Mutation_p.Q206H|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	206					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CCCGGTCCCAGAGTTTCCGTT	0.493																																																	0													161.0	152.0	155.0					14																	62536415		1920	4122	6042	SO:0001583	missense	83851			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.618G>C	14.37:g.62536415G>C	ENSP00000394700:p.Gln206His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	NULL	p.Q206H	ENST00000430451.2	37	c.618	CCDS45121.1	14	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058534	0.55325	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.38401	1.14;3.48	4.8	3.91	0.45181	.	0.000000	0.64402	D	0.000001	T	0.28699	0.0711	L	0.52759	1.655	0.47659	D	0.999489	P;P	0.46512	0.879;0.528	B;B	0.41571	0.36;0.105	T	0.04065	-1.0980	10	0.27082	T	0.32	-13.3021	6.2165	0.20658	0.1634:0.0:0.6843:0.1523	.	206;206	B4DZH2;Q17RD7	.;SYT16_HUMAN	H	206	ENSP00000388023:Q206H;ENSP00000394700:Q206H	ENSP00000394700:Q206H	Q	+	3	2	SYT16	61606168	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.392000	0.34486	1.383000	0.46405	0.655000	0.94253	CAG	SYT16	-	NULL		0.493	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1	G	NM_031914		62536415	+1	no_errors	ENST00000446982	ensembl	human	known	70_37	missense	SNP	1.000	C
SYT4	6860	genome.wustl.edu	37	18	40854012	40854012	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:40854012C>A	ENST00000255224.3	-	2	750	c.382G>T	c.(382-384)Gaa>Taa	p.E128*	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Nonsense_Mutation_p.E110*	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	128					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTTTCCCCTTCTAAAAAGAGC	0.443																																					NSCLC(85;81 1419 2855 22820 35912)												0													81.0	81.0	81.0					18																	40854012		2202	4299	6501	SO:0001587	stop_gained	6860			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.382G>T	18.37:g.40854012C>A	ENSP00000255224:p.Glu128*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DEU3|Q9P2K4	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.E128*	ENST00000255224.3	37	c.382	CCDS11922.1	18	.	.	.	.	.	.	.	.	.	.	C	38	7.134904	0.98088	.	.	ENSG00000132872	ENST00000255224	.	.	.	5.87	5.87	0.94306	.	0.146625	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	128	.	ENSP00000255224:E128X	E	-	1	0	SYT4	39108010	1.000000	0.71417	0.960000	0.40013	0.859000	0.49053	6.640000	0.74319	2.941000	0.99782	0.655000	0.94253	GAA	SYT4	-	NULL		0.443	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	HGNC	protein_coding	OTTHUMT00000255851.2	C	NM_020783		40854012	-1	no_errors	ENST00000255224	ensembl	human	known	70_37	nonsense	SNP	0.986	A
SYVN1	84447	genome.wustl.edu	37	11	64896206	64896206	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:64896206G>C	ENST00000377190.3	-	15	1690				SYVN1_ENST00000307289.6_Intron|SYVN1_ENST00000526060.1_Intron|SYVN1_ENST00000294256.8_Intron|SYVN1_ENST00000526121.1_5'Flank	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GAAGGGACGAGAGGCGGGCCT	0.597																																																	0													14.0	16.0	16.0					11																	64896206		2179	4259	6438	SO:0001627	intron_variant	84447			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1596-20C>G	11.37:g.64896206G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	RNA	SNP	-	NULL	ENST00000377190.3	37	NULL	CCDS31605.1	11																																																																																			SYVN1	-	-		0.597	SYVN1-001	KNOWN	basic|CCDS	protein_coding	SYVN1	HGNC	protein_coding	OTTHUMT00000385274.1	G	NM_032431		64896206	-1	no_errors	ENST00000527765	ensembl	human	known	70_37	rna	SNP	0.000	C
TACC2	10579	genome.wustl.edu	37	10	124013521	124013521	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:124013521G>A	ENST00000369005.1	+	23	9137	c.8797G>A	c.(8797-8799)Gaa>Aaa	p.E2933K	TACC2_ENST00000369004.3_Missense_Mutation_p.E993K|TACC2_ENST00000515273.1_Missense_Mutation_p.E2860K|TACC2_ENST00000515603.1_Missense_Mutation_p.E2811K|TACC2_ENST00000513429.1_Missense_Mutation_p.E1079K|TACC2_ENST00000360561.3_Missense_Mutation_p.E981K|TACC2_ENST00000369000.1_Missense_Mutation_p.E556K|TACC2_ENST00000260733.3_Missense_Mutation_p.E1011K|TACC2_ENST00000368999.1_Missense_Mutation_p.E1023K|TACC2_ENST00000358010.1_Missense_Mutation_p.E1079K|TACC2_ENST00000453444.2_Missense_Mutation_p.E2860K|TACC2_ENST00000369001.1_Missense_Mutation_p.E560K|TACC2_ENST00000334433.3_Missense_Mutation_p.E2933K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2933					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGAAATAGAAGAACTCACCAA	0.438																																																	0													108.0	108.0	108.0					10																	124013521		2203	4300	6503	SO:0001583	missense	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8797G>A	10.37:g.124013521G>A	ENSP00000358001:p.Glu2933Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.E2933K	ENST00000369005.1	37	c.8797	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.299796	0.95574	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733	T;T;T;T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	6.06	6.06	0.98353	.	0.000000	0.35555	N	0.003133	T	0.74779	0.3761	M	0.84773	2.715	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.998;0.999;1.0;0.999;1.0;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.999;0.998;0.999;0.998;0.994;0.998;0.999	T	0.76788	-0.2830	10	0.87932	D	0	-21.8464	20.6282	0.99521	0.0:0.0:1.0:0.0	.	2860;993;2811;2860;981;1011;556;1079;2933	E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	K	2933;1079;2860;2811;2933;1079;2860;2846;560;556;981;1023;993;1011	ENSP00000358001:E2933K;ENSP00000425062:E1079K;ENSP00000424467:E2860K;ENSP00000427618:E2811K;ENSP00000334280:E2933K;ENSP00000350701:E1079K;ENSP00000395048:E2860K;ENSP00000357997:E560K;ENSP00000357996:E556K;ENSP00000353763:E981K;ENSP00000357995:E1023K;ENSP00000422815:E993K;ENSP00000260733:E1011K	ENSP00000260733:E1011K	E	+	1	0	TACC2	124003511	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.691000	0.98679	2.871000	0.98454	0.655000	0.94253	GAA	TACC2	-	pfam_TACC		0.438	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	G			124013521	+1	no_errors	ENST00000334433	ensembl	human	known	70_37	missense	SNP	1.000	A
TAF11	6882	genome.wustl.edu	37	6	34855587	34855587	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:34855587C>G	ENST00000361288.4	-	1	279	c.148G>C	c.(148-150)Gaa>Caa	p.E50Q	ANKS1A_ENST00000535627.1_5'Flank|ANKS1A_ENST00000360359.3_5'Flank|TAF11_ENST00000420584.2_Missense_Mutation_p.E50Q	NM_005643.3	NP_005634.1	Q15544	TAF11_HUMAN	TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa	50					gene expression (GO:0010467)|positive regulation by host of viral transcription (GO:0043923)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						GCTGCAGCTTCTTTCAAGTCC	0.587																																																	0													156.0	159.0	158.0					6																	34855587		2203	4300	6503	SO:0001583	missense	6882			X83928	CCDS4797.1, CCDS59014.1	6p21	2008-02-05	2002-08-29	2001-12-07	ENSG00000064995	ENSG00000064995			11544	protein-coding gene	gene with protein product		600772	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, I, 28kD"""	TAF2I		7729427, 8820923	Standard	NM_005643		Approved	TAFII28	uc003ojw.2	Q15544	OTTHUMG00000014556	ENST00000361288.4:c.148G>C	6.37:g.34855587C>G	ENSP00000354633:p.Glu50Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8R3|B4DY18|Q9UHS0	Missense_Mutation	SNP	pfam_TAFII28,pfam_CBFA_NFYB_domain,superfamily_Histone-fold	p.E50Q	ENST00000361288.4	37	c.148	CCDS4797.1	6	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055421	0.36277	.	.	ENSG00000064995	ENST00000361288;ENST00000420584	T;T	0.51071	1.36;0.72	4.49	3.61	0.41365	.	0.265613	0.36101	N	0.002797	T	0.46833	0.1413	L	0.50333	1.59	0.43187	D	0.995019	D;D	0.71674	0.998;0.993	D;D	0.78314	0.991;0.979	T	0.39781	-0.9597	10	0.30854	T	0.27	.	9.9961	0.41900	0.2016:0.7984:0.0:0.0	.	50;50	B4DY18;Q15544	.;TAF11_HUMAN	Q	50	ENSP00000354633:E50Q;ENSP00000408121:E50Q	ENSP00000354633:E50Q	E	-	1	0	TAF11	34963565	1.000000	0.71417	0.849000	0.33467	0.002000	0.02628	3.281000	0.51685	1.473000	0.48159	-0.282000	0.10007	GAA	TAF11	-	NULL		0.587	TAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF11	HGNC	protein_coding	OTTHUMT00000040259.1	C	NM_005643		34855587	-1	no_errors	ENST00000361288	ensembl	human	known	70_37	missense	SNP	0.913	G
TANC1	85461	genome.wustl.edu	37	2	160019895	160019895	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:160019895C>T	ENST00000263635.6	+	8	1021	c.784C>T	c.(784-786)Cat>Tat	p.H262Y	TANC1_ENST00000454300.1_Missense_Mutation_p.H156Y	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	262					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GGGAGTGCTTCATGACCGCAG	0.517																																																	0													74.0	79.0	77.0					2																	160019895		1963	4144	6107	SO:0001583	missense	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.784C>T	2.37:g.160019895C>T	ENSP00000263635:p.His262Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JD88|Q49AI8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.H262Y	ENST00000263635.6	37	c.784	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210163	0.58343	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.70516	-0.49;-0.47	6.04	6.04	0.98038	.	0.197609	0.53938	D	0.000042	T	0.67951	0.2948	M	0.62723	1.935	0.45946	D	0.998773	B;B	0.09022	0.0;0.002	B;B	0.09377	0.0;0.004	T	0.61178	-0.7115	10	0.32370	T	0.25	.	14.7083	0.69208	0.0:0.9314:0.0:0.0686	.	261;262	B9EK39;Q9C0D5	.;TANC1_HUMAN	Y	156;262	ENSP00000396339:H156Y;ENSP00000263635:H262Y	ENSP00000263635:H262Y	H	+	1	0	TANC1	159728141	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.797000	0.62503	2.873000	0.98535	0.563000	0.77884	CAT	TANC1	-	NULL		0.517	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	C			160019895	+1	no_errors	ENST00000263635	ensembl	human	known	70_37	missense	SNP	1.000	T
TANC1	85461	genome.wustl.edu	37	2	160080864	160080864	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:160080864G>A	ENST00000263635.6	+	23	4037	c.3800G>A	c.(3799-3801)gGa>gAa	p.G1267E	TANC1_ENST00000454300.1_Missense_Mutation_p.G1161E	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1267					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTCAGAAAGGGAGCCAAGTTA	0.597																																																	0													50.0	57.0	55.0					2																	160080864		2130	4226	6356	SO:0001583	missense	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3800G>A	2.37:g.160080864G>A	ENSP00000263635:p.Gly1267Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JD88|Q49AI8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.G1267E	ENST00000263635.6	37	c.3800	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932638	0.92458	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.26957	1.7;1.7	5.08	5.08	0.68730	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.57784	0.2077	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	T	0.65796	-0.6081	10	0.87932	D	0	.	18.4903	0.90844	0.0:0.0:1.0:0.0	.	1259;1161;1267	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	E	1161;1267	ENSP00000396339:G1161E;ENSP00000263635:G1267E	ENSP00000263635:G1267E	G	+	2	0	TANC1	159789110	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	8.005000	0.88553	2.359000	0.80004	0.563000	0.77884	GGA	TANC1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.597	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	G			160080864	+1	no_errors	ENST00000263635	ensembl	human	known	70_37	missense	SNP	1.000	A
TAOK1	57551	genome.wustl.edu	37	17	27778620	27778620	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:27778620C>G	ENST00000261716.3	+	2	573	c.54C>G	c.(52-54)ctC>ctG	p.L18L	TAOK1_ENST00000536202.1_Silent_p.L18L	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	18					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.L18L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TTGCAGAGCTCTTCTTCAAAG	0.443																																																	2	Substitution - coding silent(2)	lung(2)											93.0	92.0	92.0					17																	27778620		2203	4300	6503	SO:0001819	synonymous_variant	57551			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.54C>G	17.37:g.27778620C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L18	ENST00000261716.3	37	c.54	CCDS32601.1	17																																																																																			TAOK1	-	NULL		0.443	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1	C	NM_020791		27778620	+1	no_errors	ENST00000261716	ensembl	human	known	70_37	silent	SNP	1.000	G
TAOK1	57551	genome.wustl.edu	37	17	27837950	27837950	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:27837950G>C	ENST00000261716.3	+	15	2163	c.1644G>C	c.(1642-1644)ctG>ctC	p.L548L	TAOK1_ENST00000536202.1_Silent_p.L548L	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	548					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AGAAAGAACTGAATAGTTTTC	0.323																																																	0													73.0	79.0	77.0					17																	27837950		2203	4299	6502	SO:0001819	synonymous_variant	57551			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1644G>C	17.37:g.27837950G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L548	ENST00000261716.3	37	c.1644	CCDS32601.1	17																																																																																			TAOK1	-	superfamily_Kinase-like_dom		0.323	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1	G	NM_020791		27837950	+1	no_errors	ENST00000261716	ensembl	human	known	70_37	silent	SNP	0.986	C
TAOK1	57551	genome.wustl.edu	37	17	27849331	27849331	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:27849331G>C	ENST00000261716.3	+	17	2461	c.1942G>C	c.(1942-1944)Gag>Cag	p.E648Q	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	648					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GAAGGACTTAGAGCATGCCAT	0.403																																																	0													87.0	79.0	82.0					17																	27849331		2203	4300	6503	SO:0001583	missense	57551			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1942G>C	17.37:g.27849331G>C	ENSP00000261716:p.Glu648Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E648Q	ENST00000261716.3	37	c.1942	CCDS32601.1	17	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806682	0.70682	.	.	ENSG00000160551	ENST00000261716	T	0.52057	0.68	5.96	5.96	0.96718	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	M	0.82056	2.57	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.73157	-0.4071	10	0.56958	D	0.05	.	20.398	0.98986	0.0:0.0:1.0:0.0	.	648	Q7L7X3	TAOK1_HUMAN	Q	648	ENSP00000261716:E648Q	ENSP00000261716:E648Q	E	+	1	0	TAOK1	24873457	1.000000	0.71417	0.998000	0.56505	0.073000	0.16967	9.863000	0.99569	2.827000	0.97445	0.643000	0.83706	GAG	TAOK1	-	superfamily_Kinase-like_dom		0.403	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1	G	NM_020791		27849331	+1	no_errors	ENST00000261716	ensembl	human	known	70_37	missense	SNP	1.000	C
TANC2	26115	genome.wustl.edu	37	17	61497691	61497691	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:61497691C>T	ENST00000424789.2	+	25	4352	c.4348C>T	c.(4348-4350)Cgg>Tgg	p.R1450W	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1460W	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1450					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TCCCCCGCATCGGGACTCAGC	0.577																																																	0													74.0	74.0	74.0					17																	61497691		1959	4148	6107	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4348C>T	17.37:g.61497691C>T	ENSP00000387593:p.Arg1450Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.R1450W	ENST00000424789.2	37	c.4348	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338184	0.60963	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.68624	-0.34;-0.34	5.29	3.22	0.36961	.	0.209794	0.41938	D	0.000794	T	0.55097	0.1899	N	0.14661	0.345	0.33886	D	0.636791	D	0.63880	0.993	P	0.47134	0.539	T	0.69157	-0.5219	10	0.72032	D	0.01	.	14.1582	0.65430	0.3894:0.6106:0.0:0.0	.	1450	Q9HCD6	TANC2_HUMAN	W	1460;1450	ENSP00000374171:R1460W;ENSP00000387593:R1450W	ENSP00000374171:R1460W	R	+	1	2	TANC2	58851423	0.989000	0.36119	0.981000	0.43875	0.455000	0.32408	2.016000	0.40971	0.568000	0.29311	0.561000	0.74099	CGG	TANC2	-	NULL		0.577	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	C			61497691	+1	no_errors	ENST00000424789	ensembl	human	known	70_37	missense	SNP	1.000	T
TAPBP	6892	genome.wustl.edu	37	6	33272263	33272263	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:33272263G>C	ENST00000489157.1	-	4	972	c.760C>G	c.(760-762)Cag>Gag	p.Q254E	TAPBP_ENST00000434618.2_Missense_Mutation_p.Q341E|TAPBP_ENST00000475304.1_Missense_Mutation_p.Q359E|TAPBP_ENST00000426633.2_Missense_Mutation_p.Q341E|TAPBP_ENST00000456592.2_Missense_Mutation_p.Q341E			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	341					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						TCGGCCTTCTGAGAGCGGCCC	0.677																																																	0													20.0	25.0	23.0					6																	33272263		2196	4287	6483	SO:0001583	missense	6892			Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"""Immunoglobulin superfamily / C1-set domain containing"""	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.760C>G	6.37:g.33272263G>C	ENSP00000419659:p.Gln254Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Missense_Mutation	SNP	pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin	p.Q341E	ENST00000489157.1	37	c.1021	CCDS34427.2	6	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.768337	0.00645	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	5.27	2.23	0.28157	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.682102	0.13826	N	0.360070	T	0.04003	0.0112	L	0.51422	1.61	0.09310	N	1	B;B;B;B;B	0.33777	0.101;0.102;0.425;0.084;0.207	B;B;B;B;B	0.34931	0.023;0.034;0.192;0.013;0.057	T	0.38757	-0.9646	10	0.02654	T	1	-2.6408	7.9919	0.30246	0.0:0.1473:0.5305:0.3222	.	341;254;359;341;341	G5E9H8;E9PGM2;A2AB90;O15533-3;O15533	.;.;.;.;TPSN_HUMAN	E	341;359;254;341;341;341	ENSP00000395701:Q341E;ENSP00000417949:Q359E;ENSP00000419659:Q254E;ENSP00000404833:Q341E;ENSP00000387803:Q341E	ENSP00000404833:Q341E	Q	-	1	0	TAPBP	33380241	0.000000	0.05858	0.001000	0.08648	0.314000	0.28054	0.564000	0.23563	0.667000	0.31107	0.549000	0.68633	CAG	TAPBP	-	pfam_Ig_C1-set,pfscan_Ig-like		0.677	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	TAPBP	HGNC	protein_coding	OTTHUMT00000276425.2	G			33272263	-1	no_errors	ENST00000426633	ensembl	human	known	70_37	missense	SNP	0.000	C
TARS	6897	genome.wustl.edu	37	5	33448722	33448722	+	Silent	SNP	C	C	T	rs376476835		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:33448722C>T	ENST00000265112.3	+	3	525	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L	TARS_ENST00000502553.1_Silent_p.L72L|TARS_ENST00000541634.1_Intron|TARS_ENST00000455217.2_Silent_p.L72L|TARS_ENST00000414361.2_Silent_p.F4F	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	72					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGATTCCATTCTGGCAGAAAA	0.368																																																	0													120.0	110.0	113.0					5																	33448722		2203	4300	6503	SO:0001819	synonymous_variant	6897			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.214C>T	5.37:g.33448722C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	p.L72	ENST00000265112.3	37	c.214	CCDS3899.1	5																																																																																			TARS	-	NULL		0.368	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	C	NM_152295		33448722	+1	no_errors	ENST00000265112	ensembl	human	known	70_37	silent	SNP	0.993	T
TARSL2	123283	genome.wustl.edu	37	15	102194910	102194910	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:102194910C>G	ENST00000335968.3	-	19	2500	c.2284G>C	c.(2284-2286)Gat>Cat	p.D762H	TM2D3_ENST00000428002.2_5'Flank|TARSL2_ENST00000559492.1_5'UTR|TM2D3_ENST00000333202.3_5'Flank|TM2D3_ENST00000347970.3_5'Flank|TM2D3_ENST00000559107.1_5'Flank	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	762					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACAGCATTATCTATCTTTTCC	0.363																																																	0													99.0	91.0	94.0					15																	102194910		2203	4300	6503	SO:0001583	missense	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.2284G>C	15.37:g.102194910C>G	ENSP00000338093:p.Asp762His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.D762H	ENST00000335968.3	37	c.2284	CCDS10394.1	15	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407386	0.42715	.	.	ENSG00000185418	ENST00000335968;ENST00000333018	D	0.83075	-1.68	5.89	4.77	0.60923	Anticodon-binding (3);	0.195275	0.53938	D	0.000049	T	0.75042	0.3796	L	0.39326	1.205	0.26556	N	0.973824	B	0.10296	0.003	B	0.16722	0.016	T	0.67389	-0.5683	10	0.72032	D	0.01	-24.3537	7.4856	0.27429	0.0:0.1661:0.0:0.8339	.	762	A2RTX5	SYTC2_HUMAN	H	762;667	ENSP00000338093:D762H	ENSP00000329291:D667H	D	-	1	0	TARSL2	100012433	1.000000	0.71417	0.226000	0.23910	0.993000	0.82548	3.367000	0.52350	1.063000	0.40649	-0.312000	0.09012	GAT	TARSL2	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa		0.363	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	C	NM_152334		102194910	-1	no_errors	ENST00000335968	ensembl	human	known	70_37	missense	SNP	0.903	G
TAS2R4	50832	genome.wustl.edu	37	7	141478326	141478326	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:141478326C>G	ENST00000247881.2	+	1	85	c.38C>G	c.(37-39)tCa>tGa	p.S13*	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	13					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		ATTATTGCCTCAGTTATTTTA	0.358																																																	0													84.0	83.0	84.0					7																	141478326		2203	4300	6503	SO:0001587	stop_gained	50832			AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.38C>G	7.37:g.141478326C>G	ENSP00000247881:p.Ser13*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q645W5|Q75MV8	Nonsense_Mutation	SNP	pfam_TAS2_rcpt	p.S13*	ENST00000247881.2	37	c.38	CCDS5868.1	7	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931198	0.34096	.	.	ENSG00000127364	ENST00000247881	.	.	.	5.12	3.17	0.36434	.	0.717883	0.12457	N	0.467231	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	8.6251	0.33883	0.0:0.7986:0.0:0.2014	.	.	.	.	X	13	.	ENSP00000247881:S13X	S	+	2	0	TAS2R4	141124795	0.001000	0.12720	0.010000	0.14722	0.170000	0.22686	1.082000	0.30803	1.401000	0.46761	0.655000	0.94253	TCA	TAS2R4	-	pfam_TAS2_rcpt		0.358	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R4	HGNC	protein_coding	OTTHUMT00000349285.1	C			141478326	+1	no_errors	ENST00000247881	ensembl	human	known	70_37	nonsense	SNP	0.002	G
TASP1	55617	genome.wustl.edu	37	20	13610679	13610679	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:13610679C>T	ENST00000337743.4	-	2	167	c.47G>A	c.(46-48)aGa>aAa	p.R16K	TASP1_ENST00000539805.1_Missense_Mutation_p.R16K|TASP1_ENST00000544472.1_Missense_Mutation_p.R16K|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	16					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						CTGAGATGATCTGGAAGGCAG	0.458																																																	0													126.0	117.0	120.0					20																	13610679		2203	4300	6503	SO:0001583	missense	55617			AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.47G>A	20.37:g.13610679C>T	ENSP00000338624:p.Arg16Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	pfam_Peptidase_T2	p.R16K	ENST00000337743.4	37	c.47	CCDS13116.1	20	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394091	0.42410	.	.	ENSG00000089123	ENST00000539805;ENST00000378157;ENST00000337743;ENST00000455532;ENST00000544472	D;D	0.92048	-2.96;-2.71	5.16	3.98	0.46160	.	0.435265	0.25894	N	0.027620	T	0.74726	0.3754	N	0.03608	-0.345	0.32745	N	0.507143	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.09377	0.004;0.0;0.0	T	0.68667	-0.5348	10	0.07813	T	0.8	-10.8334	3.7695	0.08636	0.0:0.6501:0.0:0.3498	.	16;16;16	B7Z963;Q9H6P5;Q5JWM4	.;TASP1_HUMAN;.	K	16	ENSP00000338624:R16K;ENSP00000400580:R16K	ENSP00000338624:R16K	R	-	2	0	TASP1	13558679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.607000	0.46300	2.555000	0.86185	0.650000	0.86243	AGA	TASP1	-	NULL		0.458	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TASP1	HGNC	protein_coding	OTTHUMT00000078041.2	C	NM_017714		13610679	-1	no_errors	ENST00000337743	ensembl	human	known	70_37	missense	SNP	1.000	T
TAT	6898	genome.wustl.edu	37	16	71610147	71610147	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:71610147C>G	ENST00000355962.4	-	2	305	c.172G>C	c.(172-174)Gcc>Ccc	p.A58P	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	58					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	TCCACAATGGCTCGGATGGGG	0.507																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)												0													146.0	117.0	127.0					16																	71610147		2198	4300	6498	SO:0001583	missense	6898				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.172G>C	16.37:g.71610147C>G	ENSP00000348234:p.Ala58Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8I1|D3DWS2	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase	p.A58P	ENST00000355962.4	37	c.172	CCDS10903.1	16	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021781	0.75275	.	.	ENSG00000198650	ENST00000355962	D	0.88664	-2.41	6.01	3.03	0.35002	Tyrosine aminotransferase (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.134853	0.64402	D	0.000002	D	0.93226	0.7842	M	0.83012	2.62	0.58432	D	0.999999	D;P;P	0.76494	0.999;0.529;0.903	D;B;P	0.70716	0.97;0.323;0.534	D	0.91554	0.5259	10	0.33940	T	0.23	-10.7851	10.829	0.46649	0.0:0.7977:0.0:0.2023	.	58;58;58	Q8WW92;A1L4G7;P17735	.;.;ATTY_HUMAN	P	58	ENSP00000348234:A58P	ENSP00000348234:A58P	A	-	1	0	TAT	70167648	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.830000	0.55768	0.873000	0.35799	0.655000	0.94253	GCC	TAT	-	superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase		0.507	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAT	HGNC	protein_coding	OTTHUMT00000268989.1	C			71610147	-1	no_errors	ENST00000355962	ensembl	human	known	70_37	missense	SNP	1.000	G
TBC1D13	54662	genome.wustl.edu	37	9	131554812	131554812	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:131554812C>G	ENST00000372648.5	+	6	492	c.342C>G	c.(340-342)ttC>ttG	p.F114L	TBC1D13_ENST00000539497.1_Intron|TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000223865.8_Missense_Mutation_p.F114L	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	114	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						ACACGTACTTCAAGGACAACG	0.627																																																	0													96.0	71.0	80.0					9																	131554812		2203	4300	6503	SO:0001583	missense	54662			AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.342C>G	9.37:g.131554812C>G	ENSP00000361731:p.Phe114Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F114L	ENST00000372648.5	37	c.342	CCDS6911.1	9	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219324	0.79464	.	.	ENSG00000107021	ENST00000372648;ENST00000223865	T;T	0.40476	1.03;1.03	4.77	2.89	0.33648	Rab-GAP/TBC domain (3);	0.116985	0.64402	D	0.000018	T	0.58032	0.2094	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.983	T	0.52866	-0.8518	10	0.34782	T	0.22	-25.1838	9.0358	0.36287	0.0:0.8145:0.0:0.1855	.	114;114	Q9NVG8-2;Q9NVG8	.;TBC13_HUMAN	L	114	ENSP00000361731:F114L;ENSP00000223865:F114L	ENSP00000223865:F114L	F	+	3	2	TBC1D13	130594633	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	3.590000	0.53979	0.424000	0.26061	0.561000	0.74099	TTC	TBC1D13	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.627	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D13	HGNC	protein_coding	OTTHUMT00000054496.1	C	NM_018201		131554812	+1	no_errors	ENST00000372648	ensembl	human	known	70_37	missense	SNP	1.000	G
TBL3	10607	genome.wustl.edu	37	16	2027758	2027758	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2027758G>C	ENST00000568546.1	+	18	2043	c.1915G>C	c.(1915-1917)Gag>Cag	p.E639Q		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	639				EQ -> DE (in Ref. 1; AAA18945). {ECO:0000305}.	G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GACCGAGGCGGAGCAGGCAGA	0.652																																					Melanoma(118;616 1651 35077 38081 48633)												0													47.0	40.0	42.0					16																	2027758		2167	4247	6414	SO:0001583	missense	10607			U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.1915G>C	16.37:g.2027758G>C	ENSP00000454836:p.Glu639Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E639Q	ENST00000568546.1	37	c.1915	CCDS10453.1	16	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365682	0.61513	.	.	ENSG00000183751	ENST00000332704	.	.	.	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.095419	0.64402	N	0.000001	T	0.77552	0.4147	M	0.72479	2.2	0.54753	D	0.999982	P;D	0.89917	0.803;1.0	B;D	0.74348	0.41;0.983	T	0.71862	-0.4464	9	0.20046	T	0.44	-25.8775	18.8496	0.92222	0.0:0.0:1.0:0.0	.	401;639	A0JLS5;Q12788	.;TBL3_HUMAN	Q	639	.	ENSP00000331815:E639Q	E	+	1	0	TBL3	1967759	1.000000	0.71417	0.941000	0.38009	0.258000	0.26162	8.497000	0.90488	2.703000	0.92315	0.561000	0.74099	GAG	TBL3	-	pfscan_WD40_repeat_dom		0.652	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL3	HGNC	protein_coding	OTTHUMT00000250615.3	G	NM_006453		2027758	+1	no_errors	ENST00000568546	ensembl	human	known	70_37	missense	SNP	1.000	C
TBR1	10716	genome.wustl.edu	37	2	162280548	162280548	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:162280548C>T	ENST00000389554.3	+	6	2176	c.1859C>T	c.(1858-1860)tCg>tTg	p.S620L	AC009487.5_ENST00000505579.1_RNA|TBR1_ENST00000410035.1_Missense_Mutation_p.S333L|AC009487.4_ENST00000437683.1_RNA|AC009487.4_ENST00000444164.1_RNA	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	620					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ACGCCCTCCTCGATCAAGTCC	0.706																																																	0													17.0	18.0	17.0					2																	162280548		2201	4297	6498	SO:0001583	missense	10716			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1859C>T	2.37:g.162280548C>T	ENSP00000374205:p.Ser620Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S620L	ENST00000389554.3	37	c.1859	CCDS33310.1	2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331571	0.81690	.	.	ENSG00000136535	ENST00000389554;ENST00000539334;ENST00000410035	D;D	0.92858	-3.12;-2.32	4.24	4.24	0.50183	.	0.061316	0.64402	D	0.000002	D	0.95459	0.8525	M	0.71206	2.165	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.96060	0.9038	10	0.72032	D	0.01	.	16.8311	0.85944	0.0:1.0:0.0:0.0	.	620	Q16650	TBR1_HUMAN	L	620;289;333	ENSP00000374205:S620L;ENSP00000387023:S333L	ENSP00000374205:S620L	S	+	2	0	TBR1	161988794	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.702000	0.68332	2.193000	0.70182	0.313000	0.20887	TCG	TBR1	-	NULL		0.706	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBR1	HGNC	protein_coding	OTTHUMT00000332845.1	C	NM_006593		162280548	+1	no_errors	ENST00000389554	ensembl	human	known	70_37	missense	SNP	1.000	T
TC2N	123036	genome.wustl.edu	37	14	92278671	92278671	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:92278671G>A	ENST00000435962.2	-	3	609	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	TC2N_ENST00000556018.1_Silent_p.L96L|TC2N_ENST00000340892.5_Silent_p.L96L|TC2N_ENST00000360594.5_Silent_p.L96L	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	96					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		AGTTCTTCCAGATGTGAAGGA	0.308																																																	0													98.0	88.0	91.0					14																	92278671		2203	4300	6503	SO:0001819	synonymous_variant	123036			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.286C>T	14.37:g.92278671G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L96	ENST00000435962.2	37	c.286	CCDS9897.1	14																																																																																			TC2N	-	NULL		0.308	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TC2N	HGNC	protein_coding	OTTHUMT00000411778.1	G	NM_152332		92278671	-1	no_errors	ENST00000340892	ensembl	human	known	70_37	silent	SNP	0.869	A
TCAIM	285343	genome.wustl.edu	37	3	44396247	44396247	+	5'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:44396247C>T	ENST00000342649.4	+	0	400				TCAIM_ENST00000396078.3_5'UTR|TCAIM_ENST00000417237.1_5'UTR|TCAIM_ENST00000383746.3_5'UTR	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial							mitochondrion (GO:0005739)											ATGGATGCCTCGAAGTTGACG	0.358																																																	0													142.0	144.0	143.0					3																	44396247		2203	4300	6503	SO:0001623	5_prime_UTR_variant	285343				CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.-28C>T	3.37:g.44396247C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	RNA	SNP	-	NULL	ENST00000342649.4	37	NULL	CCDS2712.1	3																																																																																			TCAIM	-	-		0.358	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCAIM	HGNC	protein_coding	OTTHUMT00000256655.2	C	NM_173826		44396247	+1	no_errors	ENST00000444602	ensembl	human	known	70_37	rna	SNP	1.000	T
TCAIM	285343	genome.wustl.edu	37	3	44409093	44409093	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:44409093G>C	ENST00000342649.4	+	5	892	c.465G>C	c.(463-465)agG>agC	p.R155S	TCAIM_ENST00000417237.1_Missense_Mutation_p.R155S	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	155						mitochondrion (GO:0005739)											AAGCTAAAAGGATGCCTGACA	0.413																																																	0													68.0	65.0	66.0					3																	44409093		2203	4300	6503	SO:0001583	missense	285343				CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.465G>C	3.37:g.44409093G>C	ENSP00000341539:p.Arg155Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	NULL	p.R155S	ENST00000342649.4	37	c.465	CCDS2712.1	3	.	.	.	.	.	.	.	.	.	.	G	5.603	0.296103	0.10622	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.42513	0.97;0.97	5.8	2.8	0.32819	.	0.637913	0.18418	N	0.141824	T	0.13927	0.0337	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21314	-1.0249	10	0.07325	T	0.83	.	1.19	0.01863	0.3224:0.1518:0.3875:0.1383	.	155	Q8N3R3	CC023_HUMAN	S	155	ENSP00000402581:R155S;ENSP00000341539:R155S	ENSP00000341539:R155S	R	+	3	2	C3orf23	44384097	0.000000	0.05858	0.006000	0.13384	0.998000	0.95712	0.437000	0.21543	0.746000	0.32786	0.650000	0.86243	AGG	TCAIM	-	NULL		0.413	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCAIM	HGNC	protein_coding	OTTHUMT00000256655.2	G	NM_173826		44409093	+1	no_errors	ENST00000342649	ensembl	human	known	70_37	missense	SNP	0.000	C
TCERG1L	256536	genome.wustl.edu	37	10	132902613	132902613	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:132902613G>A	ENST00000368642.4	-	10	1485	c.1400C>T	c.(1399-1401)tCa>tTa	p.S467L		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	467	FF 1.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		AGAAAATGCTGATACCTAAAG	0.418																																																	0													43.0	39.0	40.0					10																	132902613		2123	4064	6187	SO:0001583	missense	256536			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1400C>T	10.37:g.132902613G>A	ENSP00000357631:p.Ser467Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VWI2|Q86XM8	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.S467L	ENST00000368642.4	37	c.1400	CCDS7662.2	10	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954628	0.73902	.	.	ENSG00000176769	ENST00000368642	T	0.32515	1.45	3.53	3.53	0.40419	FF domain (4);	0.000000	0.56097	D	0.000033	T	0.58524	0.2128	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67948	-0.5538	10	0.87932	D	0	-4.2407	14.1723	0.65517	0.0:0.0:1.0:0.0	.	467	Q5VWI1	TCRGL_HUMAN	L	467	ENSP00000357631:S467L	ENSP00000357631:S467L	S	-	2	0	TCERG1L	132792603	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.565000	0.82337	1.953000	0.56701	0.491000	0.48974	TCA	TCERG1L	-	pfam_FF_domain,superfamily_FF_domain,smart_FF_domain		0.418	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCERG1L	HGNC	protein_coding	OTTHUMT00000091619.2	G	NM_174937		132902613	-1	no_errors	ENST00000368642	ensembl	human	known	70_37	missense	SNP	1.000	A
TCF23	150921	genome.wustl.edu	37	2	27375574	27375574	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:27375574C>T	ENST00000296096.5	+	3	614	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	162					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGCGATCTCGTCTCTATGC	0.567																																																	0													89.0	79.0	82.0					2																	27375574		2203	4300	6503	SO:0001583	missense	150921			AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"""Basic helix-loop-helix proteins"""	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.484C>T	2.37:g.27375574C>T	ENSP00000296096:p.Arg162Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNZ3	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.R162C	ENST00000296096.5	37	c.484	CCDS33163.1	2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150387	0.78001	.	.	ENSG00000163792	ENST00000296096	D	0.97959	-4.63	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000003	D	0.98283	0.9431	M	0.67953	2.075	0.43430	D	0.995595	D	0.89917	1.0	D	0.69142	0.962	D	0.99177	1.0866	10	0.72032	D	0.01	-7.4511	16.1947	0.82018	0.0:1.0:0.0:0.0	.	162	Q7RTU1	TCF23_HUMAN	C	162	ENSP00000296096:R162C	ENSP00000296096:R162C	R	+	1	0	TCF23	27229078	0.997000	0.39634	1.000000	0.80357	0.986000	0.74619	1.638000	0.37165	2.495000	0.84180	0.655000	0.94253	CGT	TCF23	-	NULL		0.567	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF23	HGNC	protein_coding	OTTHUMT00000324980.1	C	NM_175769		27375574	+1	no_errors	ENST00000296096	ensembl	human	known	70_37	missense	SNP	1.000	T
TCF25	22980	genome.wustl.edu	37	16	89940059	89940059	+	5'UTR	SNP	C	C	G	rs377564706		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:89940059C>G	ENST00000263346.8	+	0	40					NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)						heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CTCCAGACGTCGTGGTCGTTC	0.721																																																	0													9.0	12.0	11.0					16																	89940059		2027	3978	6005	SO:0001623	5_prime_UTR_variant	22980			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.-17C>G	16.37:g.89940059C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2MK75|Q9UPV3	RNA	SNP	-	NULL	ENST00000263346.8	37	NULL	CCDS10987.1	16																																																																																			TCF25	-	-		0.721	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	C	NM_014972		89940059	+1	no_errors	ENST00000563032	ensembl	human	known	70_37	rna	SNP	0.013	G
TCF25	22980	genome.wustl.edu	37	16	89940069	89940069	+	5'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:89940069C>T	ENST00000263346.8	+	0	50					NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)						heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CGTGGTCGTTCGGTCCTATGT	0.706																																																	0													9.0	13.0	11.0					16																	89940069		2032	4023	6055	SO:0001623	5_prime_UTR_variant	22980			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.-7C>T	16.37:g.89940069C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2MK75|Q9UPV3	RNA	SNP	-	NULL	ENST00000263346.8	37	NULL	CCDS10987.1	16																																																																																			TCF25	-	-		0.706	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	C	NM_014972		89940069	+1	no_errors	ENST00000563032	ensembl	human	known	70_37	rna	SNP	1.000	T
TCF25	22980	genome.wustl.edu	37	16	89940235	89940235	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:89940235G>C	ENST00000263346.8	+	1	216	c.160G>C	c.(160-162)Gag>Cag	p.E54Q		NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	54					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CGCAGGGAAGGAGGGCGTCCG	0.701																																																	0													12.0	16.0	14.0					16																	89940235		2169	4269	6438	SO:0001583	missense	22980			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.160G>C	16.37:g.89940235G>C	ENSP00000263346:p.Glu54Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2MK75|Q9UPV3	Missense_Mutation	SNP	pfam_TCF25	p.E54Q	ENST00000263346.8	37	c.160	CCDS10987.1	16	.	.	.	.	.	.	.	.	.	.	g	17.32	3.360540	0.61403	.	.	ENSG00000141002	ENST00000263346;ENST00000310554	.	.	.	4.92	4.92	0.64577	.	0.216187	0.39615	N	0.001303	T	0.61800	0.2376	N	0.22421	0.69	0.80722	D	1	D;B	0.67145	0.996;0.003	P;B	0.62813	0.907;0.002	T	0.63350	-0.6657	9	0.45353	T	0.12	.	16.8529	0.85999	0.0:0.0:1.0:0.0	.	54;54	B4DVF2;Q9BQ70	.;TCF25_HUMAN	Q	54	.	ENSP00000263346:E54Q	E	+	1	0	TCF25	88467736	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	2.955000	0.49121	2.572000	0.86782	0.457000	0.33378	GAG	TCF25	-	NULL		0.701	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	G	NM_014972		89940235	+1	no_errors	ENST00000263346	ensembl	human	known	70_37	missense	SNP	1.000	C
TCHH	7062	genome.wustl.edu	37	1	152082063	152082063	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:152082063C>T	ENST00000368804.1	-	2	3629	c.3630G>A	c.(3628-3630)agG>agA	p.R1210R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1210					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCGCTGCTTCCTTTTCTGGC	0.527																																																	0													120.0	119.0	119.0					1																	152082063		2089	4212	6301	SO:0001819	synonymous_variant	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3630G>A	1.37:g.152082063C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUI3	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.R1210	ENST00000368804.1	37	c.3630	CCDS41396.1	1																																																																																			TCHH	-	NULL		0.527	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	C	NM_007113		152082063	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	silent	SNP	0.000	T
TCHH	7062	genome.wustl.edu	37	1	152083115	152083115	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:152083115G>C	ENST00000368804.1	-	2	2577	c.2578C>G	c.(2578-2580)Cag>Gag	p.Q860E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	860					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTCTCCTGATCCTCCTGG	0.627																																																	0													71.0	78.0	76.0					1																	152083115		2060	4184	6244	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2578C>G	1.37:g.152083115G>C	ENSP00000357794:p.Gln860Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.Q860E	ENST00000368804.1	37	c.2578	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	g	1.362	-0.588488	0.03799	.	.	ENSG00000159450	ENST00000368804	T	0.08720	3.06	3.92	-1.2	0.09554	.	.	.	.	.	T	0.00784	0.0026	N	0.12746	0.255	0.09310	N	1	B	0.21606	0.058	B	0.20384	0.029	T	0.47058	-0.9146	9	0.02654	T	1	-3.5678	2.784	0.05369	0.0997:0.1505:0.4436:0.3062	.	860	Q07283	TRHY_HUMAN	E	860	ENSP00000357794:Q860E	ENSP00000357794:Q860E	Q	-	1	0	TCHH	150349739	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-0.612000	0.05616	0.098000	0.17522	0.450000	0.29827	CAG	TCHH	-	NULL		0.627	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	G	NM_007113		152083115	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	missense	SNP	0.000	C
TCTE3	6991	genome.wustl.edu	37	6	170143221	170143221	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:170143221G>A	ENST00000366774.3	-	3	541	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	147					transport (GO:0006810)	cytoplasm (GO:0005737)|dynein complex (GO:0030286)|membrane (GO:0016020)|microtubule (GO:0005874)	motor activity (GO:0003774)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		CTTTTATAATGAACTTATAAC	0.353																																																	0													91.0	105.0	100.0					6																	170143221		2202	4299	6501	SO:0001819	synonymous_variant	6991			AF519569	CCDS5310.1	6q27	2014-06-03			ENSG00000184786	ENSG00000184786			11695	protein-coding gene	gene with protein product	"""Tctex1 domain containing 3"""	186977				1505969, 12584439	Standard	NM_174910		Approved	TCTEX1D3	uc003qxe.1	Q8IZS6	OTTHUMG00000016068	ENST00000366774.3:c.441C>T	6.37:g.170143221G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Tctex	p.F147	ENST00000366774.3	37	c.441	CCDS5310.1	6																																																																																			TCTE3	-	pfam_Tctex		0.353	TCTE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE3	HGNC	protein_coding	OTTHUMT00000043243.1	G	NM_174910		170143221	-1	no_errors	ENST00000366774	ensembl	human	known	70_37	silent	SNP	0.997	A
TCTEX1D1	200132	genome.wustl.edu	37	1	67243159	67243159	+	3'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:67243159C>G	ENST00000282670.2	+	0	690					NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1											large_intestine(2)|lung(10)|skin(1)	13						AAATCTAGCTCTTACTTTTGA	0.343																																																	0													54.0	56.0	55.0					1																	67243159		2180	4291	6471	SO:0001624	3_prime_UTR_variant	200132			AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760			26882	protein-coding gene	gene with protein product							Standard	NM_152665		Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.*22C>G	1.37:g.67243159C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q06YR9|Q5VYE1	RNA	SNP	-	NULL	ENST00000282670.2	37	NULL	CCDS633.1	1																																																																																			TCTEX1D1	-	-		0.343	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTEX1D1	HGNC	protein_coding	OTTHUMT00000025399.2	C	NM_152665		67243159	+1	no_errors	ENST00000489510	ensembl	human	known	70_37	rna	SNP	0.005	G
TCTEX1D2	255758	genome.wustl.edu	37	3	196043031	196043031	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:196043031G>C	ENST00000325318.5	-	2	320	c.185C>G	c.(184-186)tCt>tGt	p.S62C	RP11-447L10.1_ENST00000431391.1_Missense_Mutation_p.S62C|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000442633.1_3'UTR	NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	62										breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TTCTTCTGGAGAATATTCAGC	0.378																																																	0													137.0	125.0	129.0					3																	196043031		2203	4300	6503	SO:0001583	missense	255758			BC021177	CCDS33929.1	3q29	2010-07-19			ENSG00000213123	ENSG00000213123			28482	protein-coding gene	gene with protein product						12477932	Standard	NM_152773		Approved	MGC33212	uc003fwi.3	Q8WW35	OTTHUMG00000155672	ENST00000325318.5:c.185C>G	3.37:g.196043031G>C	ENSP00000324323:p.Ser62Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCN5	Missense_Mutation	SNP	pfam_Tctex	p.S62C	ENST00000325318.5	37	c.185	CCDS33929.1	3	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737826	0.30774	.	.	ENSG00000213123	ENST00000325318;ENST00000545438	T	0.32272	1.46	5.21	-0.256	0.12984	.	0.357554	0.19667	U	0.108854	T	0.26955	0.0660	M	0.72353	2.195	0.31874	N	0.619361	B	0.09022	0.002	B	0.18263	0.021	T	0.16958	-1.0385	10	0.52906	T	0.07	4.9027	4.1029	0.10023	0.4416:0.0:0.3883:0.1701	.	62	Q8WW35	TC1D2_HUMAN	C	62	ENSP00000324323:S62C	ENSP00000324323:S62C	S	-	2	0	TCTEX1D2	197527428	0.098000	0.21812	0.568000	0.28447	0.789000	0.44602	0.506000	0.22658	0.206000	0.20587	0.561000	0.74099	TCT	TCTEX1D2	-	pfam_Tctex		0.378	TCTEX1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTEX1D2	HGNC	protein_coding	OTTHUMT00000341166.1	G	NM_152773		196043031	-1	no_errors	ENST00000325318	ensembl	human	known	70_37	missense	SNP	0.569	C
TCTN2	79867	genome.wustl.edu	37	12	124156119	124156119	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:124156119G>A	ENST00000303372.5	+	2	276	c.148G>A	c.(148-150)Gag>Aag	p.E50K	TCTN2_ENST00000426174.2_Missense_Mutation_p.E50K	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	50					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CGGAGACACCGAGGGTGTGAC	0.627																																																	0													70.0	68.0	68.0					12																	124156119		2203	4300	6503	SO:0001583	missense	79867			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.148G>A	12.37:g.124156119G>A	ENSP00000304941:p.Glu50Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	pfam_DUF1619	p.E50K	ENST00000303372.5	37	c.148	CCDS9253.1	12	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166291	0.57476	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.83673	-1.75;-1.75	4.5	4.5	0.54988	.	0.331224	0.28062	N	0.016749	T	0.81489	0.4833	M	0.70595	2.14	0.09310	N	1	D;D	0.59357	0.985;0.985	B;B	0.43155	0.41;0.41	T	0.76556	-0.2916	10	0.42905	T	0.14	-24.3895	12.273	0.54716	0.0:0.0:0.8305:0.1695	.	50;50	A8K7Y8;Q96GX1	.;TECT2_HUMAN	K	50	ENSP00000395171:E50K;ENSP00000304941:E50K	ENSP00000304941:E50K	E	+	1	0	TCTN2	122722072	0.996000	0.38824	0.421000	0.26609	0.042000	0.13812	3.304000	0.51866	2.431000	0.82371	0.650000	0.86243	GAG	TCTN2	-	NULL		0.627	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	HGNC	protein_coding	OTTHUMT00000400652.1	G	NM_024809		124156119	+1	no_errors	ENST00000303372	ensembl	human	known	70_37	missense	SNP	0.211	A
TDRD5	163589	genome.wustl.edu	37	1	179587787	179587787	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:179587787C>G	ENST00000367614.1	+	5	1244	c.885C>G	c.(883-885)atC>atG	p.I295M	TDRD5_ENST00000294848.8_Missense_Mutation_p.I295M|TDRD5_ENST00000444136.1_Missense_Mutation_p.I295M	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	295	HTH OST-type 3. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GAGGAACTATCAGTTCAGAAC	0.313																																																	0													62.0	67.0	65.0					1																	179587787		2203	4298	6501	SO:0001583	missense	163589			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.885C>G	1.37:g.179587787C>G	ENSP00000356586:p.Ile295Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.I295M	ENST00000367614.1	37	c.885	CCDS1332.1	1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921386	0.52653	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.19250	2.16;2.16;2.31	4.77	-1.96	0.07525	.	0.600804	0.16671	N	0.204355	T	0.25494	0.0620	L	0.44542	1.39	0.21064	N	0.999795	D;D	0.58970	0.984;0.97	P;P	0.55455	0.736;0.776	T	0.13548	-1.0505	10	0.59425	D	0.04	-6.1074	8.9845	0.35986	0.0:0.4521:0.0:0.5479	.	295;295	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	M	295	ENSP00000356586:I295M;ENSP00000294848:I295M;ENSP00000406052:I295M	ENSP00000294848:I295M	I	+	3	3	TDRD5	177854410	0.015000	0.18098	0.303000	0.25071	0.964000	0.63967	-0.793000	0.04589	-0.658000	0.05366	0.563000	0.77884	ATC	TDRD5	-	NULL		0.313	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	C	NM_173533		179587787	+1	no_errors	ENST00000444136	ensembl	human	known	70_37	missense	SNP	0.526	G
TECTA	7007	genome.wustl.edu	37	11	120998545	120998545	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:120998545C>T	ENST00000392793.1	+	9	2130	c.1859C>T	c.(1858-1860)tCg>tTg	p.S620L	TECTA_ENST00000264037.2_Missense_Mutation_p.S620L			O75443	TECTA_HUMAN	tectorin alpha	620	TIL 1.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGACGGCCTCGCGGAACTGC	0.662																																																	0													64.0	64.0	64.0					11																	120998545		2203	4298	6501	SO:0001583	missense	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1859C>T	11.37:g.120998545C>T	ENSP00000376543:p.Ser620Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.S620L	ENST00000392793.1	37	c.1859	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002703	0.74932	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.90844	-2.74;-2.74	5.52	5.52	0.82312	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.066033	0.64402	D	0.000005	D	0.87120	0.6098	L	0.33753	1.03	0.40370	D	0.979336	P	0.44816	0.844	B	0.40636	0.335	D	0.86494	0.1799	10	0.33940	T	0.23	.	19.8087	0.96539	0.0:1.0:0.0:0.0	.	620	O75443	TECTA_HUMAN	L	620	ENSP00000376543:S620L;ENSP00000264037:S620L	ENSP00000264037:S620L	S	+	2	0	TECTA	120503755	1.000000	0.71417	0.971000	0.41717	0.973000	0.67179	3.509000	0.53386	2.757000	0.94681	0.655000	0.94253	TCG	TECTA	-	pfam_TIL_dom,superfamily_TIL_dom		0.662	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	C	NM_005422		120998545	+1	no_errors	ENST00000264037	ensembl	human	known	70_37	missense	SNP	0.999	T
TECTA	7007	genome.wustl.edu	37	11	121037448	121037448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:121037448C>T	ENST00000392793.1	+	18	5816	c.5545C>T	c.(5545-5547)Cag>Tag	p.Q1849*	TECTA_ENST00000264037.2_Nonsense_Mutation_p.Q1849*			O75443	TECTA_HUMAN	tectorin alpha	1849	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TATCTCCTTTCAGATCAACAA	0.507																																																	0													107.0	101.0	103.0					11																	121037448		2203	4299	6502	SO:0001587	stop_gained	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.5545C>T	11.37:g.121037448C>T	ENSP00000376543:p.Gln1849*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.Q1849*	ENST00000392793.1	37	c.5545	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	C	46	12.567985	0.99679	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	.	.	.	6.05	6.05	0.98169	.	0.202487	0.45361	D	0.000377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	20.6087	0.99469	0.0:1.0:0.0:0.0	.	.	.	.	X	1849	.	ENSP00000264037:Q1849X	Q	+	1	0	TECTA	120542658	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.452000	0.80683	2.866000	0.98385	0.650000	0.86243	CAG	TECTA	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.507	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	C	NM_005422		121037448	+1	no_errors	ENST00000264037	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TENM1	10178	genome.wustl.edu	37	X	123630972	123630972	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:123630972G>C	ENST00000371130.3	-	20	3652	c.3589C>G	c.(3589-3591)Cct>Gct	p.P1197A	TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000422452.2_Missense_Mutation_p.P1197A	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1197					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P1199S(1)									AAGGCGACAGGAGCAAAGAGT	0.488																																																	1	Substitution - Missense(1)	skin(1)											122.0	110.0	114.0					X																	123630972		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3589C>G	X.37:g.123630972G>C	ENSP00000360171:p.Pro1197Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.P1197A	ENST00000371130.3	37	c.3589	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514708	0.64634	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.92149	-2.98;-2.98	5.43	5.43	0.79202	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95046	0.8396	M	0.82056	2.57	0.80722	D	1	B;P;D	0.54964	0.297;0.539;0.969	B;B;P	0.53861	0.129;0.314;0.736	D	0.95626	0.8685	10	0.87932	D	0	.	18.3127	0.90206	0.0:0.0:1.0:0.0	.	1196;1197;1197	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	A	1197	ENSP00000360171:P1197A;ENSP00000403954:P1197A	ENSP00000360171:P1197A	P	-	1	0	ODZ1	123458653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.263000	0.75096	0.600000	0.82982	CCT	TENM1	-	NULL		0.488	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	G	NM_014253		123630972	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	C
TENM2	57451	genome.wustl.edu	37	5	167553926	167553926	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:167553926G>A	ENST00000518659.1	+	12	2416	c.2377G>A	c.(2377-2379)Ggt>Agt	p.G793S	TENM2_ENST00000520394.1_Missense_Mutation_p.G561S|TENM2_ENST00000545108.1_Missense_Mutation_p.G793S|TENM2_ENST00000403607.2_Missense_Mutation_p.G626S|TENM2_ENST00000519204.1_Missense_Mutation_p.G672S|CTB-178M22.1_ENST00000517408.1_RNA	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	793	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GGGCTGGAATGGTGAACACTG	0.532																																																	0													51.0	63.0	59.0					5																	167553926		2029	4187	6216	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2377G>A	5.37:g.167553926G>A	ENSP00000429430:p.Gly793Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.G793S	ENST00000518659.1	37	c.2377		5	.	.	.	.	.	.	.	.	.	.	G	34	5.342833	0.95783	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	5.8	5.8	0.92144	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.63022	0.2476	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	T	0.70502	-0.4854	10	0.87932	D	0	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	793;793;561	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	S	793;793;672;561;626	ENSP00000429430:G793S;ENSP00000438635:G793S;ENSP00000428964:G672S;ENSP00000427874:G561S;ENSP00000384905:G626S	ENSP00000384905:G626S	G	+	1	0	ODZ2	167486504	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.682000	0.98655	2.735000	0.93741	0.655000	0.94253	GGT	TENM2	-	pfam_EGF_extracell,smart_EG-like_dom		0.532	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	G	NM_001122679		167553926	+1	no_errors	ENST00000518659	ensembl	human	known	70_37	missense	SNP	1.000	A
TENM3	55714	genome.wustl.edu	37	4	183601861	183601861	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:183601861C>G	ENST00000511685.1	+	10	1928	c.1805C>G	c.(1804-1806)tCa>tGa	p.S602*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.S602*|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	602	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCTTGCAACTCAGGATACAAA	0.438																																																	0													85.0	86.0	86.0					4																	183601861		1885	4101	5986	SO:0001587	stop_gained	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1805C>G	4.37:g.183601861C>G	ENSP00000424226:p.Ser602*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Nonsense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.S602*	ENST00000511685.1	37	c.1805	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	C	40	8.084316	0.98646	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.5721	0.95425	0.0:1.0:0.0:0.0	.	.	.	.	X	602	.	ENSP00000385276:S602X	S	+	2	0	ODZ3	183838855	1.000000	0.71417	0.970000	0.41538	0.887000	0.51463	5.893000	0.69798	2.857000	0.98124	0.650000	0.86243	TCA	TENM3	-	pfam_EGF_extracell,smart_EG-like_dom		0.438	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	C			183601861	+1	no_errors	ENST00000406950	ensembl	human	known	70_37	nonsense	SNP	1.000	G
TENM4	26011	genome.wustl.edu	37	11	78387290	78387290	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:78387290C>T	ENST00000278550.7	-	30	5865	c.5403G>A	c.(5401-5403)acG>acA	p.T1801T		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1801					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CGATGGGCAGCGTGACATTCC	0.677																																																	0													24.0	30.0	28.0					11																	78387290		2138	4234	6372	SO:0001819	synonymous_variant	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5403G>A	11.37:g.78387290C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.T1801	ENST00000278550.7	37	c.5403	CCDS44688.1	11																																																																																			TENM4	-	NULL		0.677	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	C			78387290	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	silent	SNP	0.494	T
TET2	54790	genome.wustl.edu	37	4	106158171	106158171	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:106158171C>G	ENST00000540549.1	+	3	3932	c.3072C>G	c.(3070-3072)atC>atG	p.I1024M	TET2_ENST00000380013.4_Missense_Mutation_p.I1024M|TET2_ENST00000413648.2_Missense_Mutation_p.I1024M|TET2_ENST00000545826.1_Missense_Mutation_p.I1024M|TET2_ENST00000513237.1_Missense_Mutation_p.I1045M|TET2_ENST00000394764.1_Missense_Mutation_p.I1024M|TET2_ENST00000305737.2_Missense_Mutation_p.I1024M			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1024					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AAAAGAGCATCATTGAGACCA	0.423			"""Mis N, F"""		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													100.0	84.0	90.0					4																	106158171		2203	4300	6503	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3072C>G	4.37:g.106158171C>G	ENSP00000442788:p.Ile1024Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.I1024M	ENST00000540549.1	37	c.3072	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	14.62	2.591253	0.46214	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.30182	1.54;1.54;2.53;1.54;1.54;1.54;1.54	5.79	2.04	0.26737	.	0.000000	0.34932	U	0.003572	T	0.46946	0.1419	L	0.58101	1.795	0.47153	D	0.999337	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.31503	-0.9941	10	0.72032	D	0.01	.	9.0529	0.36387	0.0:0.5565:0.0:0.4435	.	1045;1024;1024	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	M	1024;1024;1024;1045;1024;1024;1024	ENSP00000306705:I1024M;ENSP00000442788:I1024M;ENSP00000442867:I1024M;ENSP00000425443:I1045M;ENSP00000369351:I1024M;ENSP00000378245:I1024M;ENSP00000391448:I1024M	ENSP00000265149:I1024M	I	+	3	3	TET2	106377620	0.997000	0.39634	0.312000	0.25196	0.990000	0.78478	0.869000	0.27996	0.059000	0.16252	-0.345000	0.07892	ATC	TET2	-	NULL		0.423	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106158171	+1	no_errors	ENST00000380013	ensembl	human	known	70_37	missense	SNP	0.972	G
TEX10	54881	genome.wustl.edu	37	9	103102638	103102638	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:103102638C>T	ENST00000374902.4	-	5	1327	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	TEX10_ENST00000537512.1_Missense_Mutation_p.R319Q|TEX10_ENST00000535814.1_Missense_Mutation_p.R387Q	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	384						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GTAGTTCTTTCGAAGCCATGA	0.294																																																	0													119.0	130.0	126.0					9																	103102638		2202	4297	6499	SO:0001583	missense	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1151G>A	9.37:g.103102638C>T	ENSP00000364037:p.Arg384Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.R384Q	ENST00000374902.4	37	c.1151	CCDS6748.1	9	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856098	0.51376	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000429235;ENST00000537512	.	.	.	5.59	5.59	0.84812	Armadillo-type fold (1);	0.136413	0.48767	D	0.000174	T	0.77329	0.4114	M	0.69823	2.125	0.49915	D	0.999834	D;D;D;D;D	0.89917	0.974;0.999;1.0;0.999;0.998	B;P;D;P;P	0.65233	0.183;0.749;0.933;0.9;0.663	T	0.76903	-0.2787	9	0.45353	T	0.12	-6.0776	17.7729	0.88499	0.0:1.0:0.0:0.0	.	319;387;252;252;384	B7Z9D5;B4DYV2;E7ERG2;B4DQR0;Q9NXF1	.;.;.;.;TEX10_HUMAN	Q	387;384;252;29;319	.	ENSP00000364037:R384Q	R	-	2	0	TEX10	102142459	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.427000	0.59888	2.614000	0.88457	0.591000	0.81541	CGA	TEX10	-	superfamily_ARM-type_fold		0.294	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX10	HGNC	protein_coding	OTTHUMT00000053416.1	C	NM_017746		103102638	-1	no_errors	ENST00000374902	ensembl	human	known	70_37	missense	SNP	1.000	T
TEX14	56155	genome.wustl.edu	37	17	56676893	56676893	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:56676893C>G	ENST00000240361.8	-	14	1916	c.1831G>C	c.(1831-1833)Gaa>Caa	p.E611Q	TEX14_ENST00000389934.3_Missense_Mutation_p.E605Q|TEX14_ENST00000349033.5_Missense_Mutation_p.E605Q			Q8IWB6	TEX14_HUMAN	testis expressed 14	611					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGCCTCTTCTGCCATAAAT	0.517																																																	0													53.0	53.0	53.0					17																	56676893		2203	4300	6503	SO:0001583	missense	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1831G>C	17.37:g.56676893C>G	ENSP00000240361:p.Glu611Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.E611Q	ENST00000240361.8	37	c.1831	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911705	0.52439	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.80566	-1.39;-1.39;-1.34	5.61	2.41	0.29592	.	1.055410	0.07422	N	0.894134	T	0.68100	0.2964	L	0.27053	0.805	0.09310	N	1	B;B;B	0.34200	0.177;0.441;0.441	B;B;B	0.33846	0.067;0.171;0.171	T	0.52983	-0.8502	10	0.17832	T	0.49	-1.7614	8.1996	0.31417	0.0:0.6211:0.2959:0.083	.	611;605;605	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Q	611;605;605	ENSP00000240361:E611Q;ENSP00000374584:E605Q;ENSP00000268910:E605Q	ENSP00000240361:E611Q	E	-	1	0	TEX14	54031892	0.000000	0.05858	0.137000	0.22149	0.804000	0.45430	0.413000	0.21148	0.683000	0.31428	0.655000	0.94253	GAA	TEX14	-	NULL		0.517	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1	C			56676893	-1	no_errors	ENST00000240361	ensembl	human	known	70_37	missense	SNP	0.001	G
TEX2	55852	genome.wustl.edu	37	17	62290576	62290576	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:62290576C>G	ENST00000583097.1	-	2	1174	c.1002G>C	c.(1000-1002)ttG>ttC	p.L334F	TEX2_ENST00000258991.3_Missense_Mutation_p.L334F|TEX2_ENST00000584379.1_Missense_Mutation_p.L334F			Q8IWB9	TEX2_HUMAN	testis expressed 2	334					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGTGCCCATTCAAGCTGGACA	0.468																																																	0													80.0	75.0	76.0					17																	62290576		2203	4300	6503	SO:0001583	missense	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1002G>C	17.37:g.62290576C>G	ENSP00000462665:p.Leu334Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	pfam_DUF2404	p.L334F	ENST00000583097.1	37	c.1002		17	.	.	.	.	.	.	.	.	.	.	C	6.664	0.491132	0.12702	.	.	ENSG00000136478	ENST00000258991	T	0.57907	0.37	6.03	4.03	0.46877	.	0.243846	0.34879	N	0.003617	T	0.60650	0.2285	L	0.54323	1.7	0.48830	D	0.999713	D;D	0.69078	0.997;0.995	P;P	0.62382	0.901;0.798	T	0.61922	-0.6963	10	0.56958	D	0.05	-5.3198	7.8916	0.29682	0.0:0.7291:0.1365:0.1345	.	334;334	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	F	334	ENSP00000258991:L334F	ENSP00000258991:L334F	L	-	3	2	TEX2	59644308	0.998000	0.40836	1.000000	0.80357	0.891000	0.51852	0.508000	0.22692	1.541000	0.49316	-0.175000	0.13238	TTG	TEX2	-	NULL		0.468	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	TEX2	HGNC	protein_coding	OTTHUMT00000443745.1	C	NM_018469		62290576	-1	no_errors	ENST00000258991	ensembl	human	known	70_37	missense	SNP	0.998	G
TEX36	387718	genome.wustl.edu	37	10	127344508	127344508	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:127344508G>C	ENST00000368821.3	-	4	676	c.522C>G	c.(520-522)ttC>ttG	p.F174L		NM_001128202.1	NP_001121674.1	Q5VZQ5	TEX36_HUMAN	testis expressed 36	174																	TGTCAACAGTGAACCTTACTT	0.373																																																	0													217.0	177.0	189.0					10																	127344508		692	1591	2283	SO:0001583	missense	387718				CCDS44493.1	10q26.13	2012-08-13	2012-08-13	2012-08-13	ENSG00000175018	ENSG00000175018			31653	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 122"""	C10orf122			Standard	NM_001128202		Approved	bA383C5.1	uc001lik.4	Q5VZQ5	OTTHUMG00000019229	ENST00000368821.3:c.522C>G	10.37:g.127344508G>C	ENSP00000357811:p.Phe174Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P5T8	Missense_Mutation	SNP	NULL	p.F174L	ENST00000368821.3	37	c.522	CCDS44493.1	10	.	.	.	.	.	.	.	.	.	.	G	7.591	0.670717	0.14776	.	.	ENSG00000175018	ENST00000368821	T	0.37411	1.2	3.94	-7.77	0.01227	.	0.266343	0.27130	N	0.020786	T	0.16257	0.0391	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.35968	-0.9767	10	0.09084	T	0.74	-9.6594	8.1199	0.30965	0.2499:0.1339:0.6162:0.0	.	174	Q5VZQ5	CJ122_HUMAN	L	174	ENSP00000357811:F174L	ENSP00000357811:F174L	F	-	3	2	C10orf122	127334498	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.439000	0.06897	-1.640000	0.01525	-0.367000	0.07326	TTC	TEX36	-	NULL		0.373	TEX36-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TEX36	HGNC	protein_coding	OTTHUMT00000050915.1	G	NM_001128202		127344508	-1	no_errors	ENST00000368821	ensembl	human	known	70_37	missense	SNP	0.000	C
TFEB	7942	genome.wustl.edu	37	6	41658858	41658858	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:41658858G>A	ENST00000230323.4	-	3	395	c.94C>T	c.(94-96)Cat>Tat	p.H32Y	TFEB_ENST00000373033.1_Missense_Mutation_p.H32Y|TFEB_ENST00000394283.1_Missense_Mutation_p.H32Y|TFEB_ENST00000420312.1_Missense_Mutation_p.H32Y|TFEB_ENST00000403298.4_Missense_Mutation_p.H32Y|TFEB_ENST00000358871.2_Missense_Mutation_p.H46Y	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	32	Gln-rich.				autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			tgcATGTAATGCATGACAGCC	0.647			T	ALPHA	renal (childhood epithelioid)						OREG0004069	type=REGULATORY REGION|Gene=TFEB|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																												Dom	yes		6	6p21	7942	transcription factor EB		"""E,M"""	0													18.0	15.0	16.0					6																	41658858		2194	4289	6483	SO:0001583	missense	7942			M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.94C>T	6.37:g.41658858G>A	ENSP00000230323:p.His32Tyr	Somatic	902	WXS	Illumina HiSeq	Phase_IV	Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Missense_Mutation	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.H32Y	ENST00000230323.4	37	c.94	CCDS4858.1	6	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689142	0.48097	.	.	ENSG00000112561	ENST00000343317;ENST00000230323;ENST00000358871;ENST00000403298;ENST00000420312;ENST00000373033;ENST00000394283;ENST00000419396;ENST00000416140;ENST00000419574;ENST00000424495;ENST00000445214;ENST00000419788;ENST00000425401	T;T;T;T;T;T;T;T;T;T	0.43688	1.87;1.89;1.89;1.89;1.84;1.89;0.94;0.94;0.94;1.48	5.09	4.2	0.49525	.	0.332724	0.31427	N	0.007675	T	0.16938	0.0407	L	0.34521	1.04	0.21527	N	0.999651	B;B;B;B	0.26975	0.165;0.072;0.072;0.118	B;B;B;B	0.31245	0.094;0.059;0.04;0.126	T	0.13124	-1.0521	10	0.72032	D	0.01	-11.5782	9.63	0.39774	0.0:0.1539:0.6869:0.1593	.	118;46;32;32	B0QYS7;B0QYS6;P19484;P19484-2	.;.;TFEB_HUMAN;.	Y	118;32;46;32;32;32;32;32;32;32;32;32;32;32	ENSP00000343948:H118Y;ENSP00000230323:H32Y;ENSP00000351742:H46Y;ENSP00000384203:H32Y;ENSP00000412551:H32Y;ENSP00000362124:H32Y;ENSP00000377824:H32Y;ENSP00000410391:H32Y;ENSP00000406491:H32Y;ENSP00000400276:H32Y	ENSP00000230323:H32Y	H	-	1	0	TFEB	41766836	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	5.739000	0.68622	1.103000	0.41568	0.455000	0.32223	CAT	TFEB	-	NULL		0.647	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFEB	HGNC	protein_coding	OTTHUMT00000040522.3	G			41658858	-1	no_errors	ENST00000230323	ensembl	human	known	70_37	missense	SNP	0.999	A
TFG	10342	genome.wustl.edu	37	3	100451391	100451391	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:100451391C>T	ENST00000240851.4	+	5	795	c.455C>T	c.(454-456)tCt>tTt	p.S152F	TFG_ENST00000418917.2_Missense_Mutation_p.S152F|TFG_ENST00000476228.1_Missense_Mutation_p.S152F|TFG_ENST00000490574.1_Missense_Mutation_p.S152F	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	152					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						GCTTCTGATTCTTCTGGAAAA	0.338			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																			Dom	yes		3	3q11-q12	10342	TRK-fused gene		"""E, L"""	0													102.0	104.0	103.0					3																	100451391		2203	4300	6503	SO:0001583	missense	10342			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.455C>T	3.37:g.100451391C>T	ENSP00000240851:p.Ser152Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	pfam_OPR_PB1,smart_OPR_PB1	p.S152F	ENST00000240851.4	37	c.455	CCDS2939.1	3	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617913	0.87359	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.74;0.57	5.94	5.94	0.96194	.	0.257582	0.46758	D	0.000266	T	0.57007	0.2024	L	0.47716	1.5	0.80722	D	1	P;B	0.40794	0.729;0.145	P;B	0.44518	0.452;0.1	T	0.57376	-0.7822	10	0.62326	D	0.03	-11.6409	20.3552	0.98837	0.0:1.0:0.0:0.0	.	152;152	G5E9V1;Q92734	.;TFG_HUMAN	F	152	ENSP00000397182:S152F;ENSP00000419960:S152F;ENSP00000240851:S152F;ENSP00000417952:S152F;ENSP00000419504:S152F;ENSP00000420797:S152F	ENSP00000240851:S152F	S	+	2	0	TFG	101934081	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.479000	0.66813	2.812000	0.96745	0.557000	0.71058	TCT	TFG	-	NULL		0.338	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFG	HGNC	protein_coding	OTTHUMT00000353242.1	C	NM_006070		100451391	+1	no_errors	ENST00000240851	ensembl	human	known	70_37	missense	SNP	1.000	T
TGIF2	60436	genome.wustl.edu	37	20	35207298	35207298	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:35207298C>T	ENST00000373874.2	+	2	320	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R41C|TGIF2_ENST00000373872.4_Missense_Mutation_p.R41C|RP5-977B1.11_ENST00000561134.1_RNA	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	41					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GTACTTGCACCGCTACAACGC	0.602																																																	0													123.0	103.0	110.0					20																	35207298		2203	4300	6503	SO:0001583	missense	60436			AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"""Homeoboxes / TALE class"""	15764	protein-coding gene	gene with protein product		607294	"""TGFB-induced factor 2 (TALE family homeobox)"""			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.121C>T	20.37:g.35207298C>T	ENSP00000362981:p.Arg41Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9U3|E1P5T9|H0YNI0	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R41C	ENST00000373874.2	37	c.121	CCDS13278.1	20	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213797	0.79352	.	.	ENSG00000118707	ENST00000373874;ENST00000373872	D;D	0.91521	-2.86;-2.86	5.01	5.01	0.66863	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95056	0.8399	M	0.77616	2.38	0.39887	D	0.973718	D	0.89917	1.0	D	0.87578	0.998	D	0.95932	0.8939	10	0.66056	D	0.02	-15.2248	15.8254	0.78703	0.0:1.0:0.0:0.0	.	41	Q9GZN2	TGIF2_HUMAN	C	41	ENSP00000362981:R41C;ENSP00000362979:R41C	ENSP00000362979:R41C	R	+	1	0	TGIF2	34640712	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.624000	0.54231	2.316000	0.78162	0.561000	0.74099	CGC	TGIF2	-	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.602	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2	HGNC	protein_coding	OTTHUMT00000079004.2	C	NM_021809		35207298	+1	no_errors	ENST00000373872	ensembl	human	known	70_37	missense	SNP	1.000	T
THBS1	7057	genome.wustl.edu	37	15	39879667	39879667	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:39879667G>C	ENST00000260356.5	+	8	1405	c.1240G>C	c.(1240-1242)Gag>Cag	p.E414Q		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	414	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CAACCGATGTGAGGGCTCCTC	0.572																																																	0													45.0	39.0	41.0					15																	39879667		2200	4297	6497	SO:0001583	missense	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1240G>C	15.37:g.39879667G>C	ENSP00000260356:p.Glu414Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.E414Q	ENST00000260356.5	37	c.1240	CCDS32194.1	15	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950852	0.73787	.	.	ENSG00000137801	ENST00000260356	T	0.55588	0.51	5.26	5.26	0.73747	.	0.000000	0.36555	N	0.002532	T	0.49864	0.1582	L	0.43701	1.375	0.58432	D	0.999992	P	0.42123	0.771	B	0.42916	0.402	T	0.34229	-0.9837	10	0.21014	T	0.42	-45.4619	18.3745	0.90431	0.0:0.0:1.0:0.0	.	414	P07996	TSP1_HUMAN	Q	414	ENSP00000260356:E414Q	ENSP00000260356:E414Q	E	+	1	0	THBS1	37666959	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.290000	0.72712	2.890000	0.99128	0.655000	0.94253	GAG	THBS1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.572	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS1	HGNC	protein_coding	OTTHUMT00000257831.2	G	NM_003246		39879667	+1	no_errors	ENST00000260356	ensembl	human	known	70_37	missense	SNP	1.000	C
TGM5	9333	genome.wustl.edu	37	15	43533169	43533169	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:43533169G>C	ENST00000220420.5	-	7	889	c.882C>G	c.(880-882)atC>atG	p.I294M	TGM5_ENST00000349114.4_Missense_Mutation_p.I212M	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	294					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CACGGGTAGGGATCCCCAGAC	0.488																																																	0													139.0	124.0	129.0					15																	43533169		2202	4299	6501	SO:0001583	missense	9333			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.882C>G	15.37:g.43533169G>C	ENSP00000220420:p.Ile294Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.I294M	ENST00000220420.5	37	c.882	CCDS32212.1	15	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279641	0.59758	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.68181	-0.31;-0.31	5.7	3.81	0.43845	Transglutaminase-like (2);	0.054776	0.64402	D	0.000001	T	0.81721	0.4882	M	0.85373	2.75	0.32840	D	0.505286	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.987	D	0.86350	0.1710	10	0.87932	D	0	-22.1227	10.973	0.47450	0.1432:0.0:0.8568:0.0	.	212;294	O43548-2;O43548	.;TGM5_HUMAN	M	294;212;293	ENSP00000220420:I294M;ENSP00000220419:I212M	ENSP00000220420:I294M	I	-	3	3	TGM5	41320461	0.996000	0.38824	1.000000	0.80357	0.983000	0.72400	0.374000	0.20501	0.743000	0.32719	0.655000	0.94253	ATC	TGM5	-	pfam_Transglutaminase-like,smart_Transglutaminase-like		0.488	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM5	HGNC	protein_coding	OTTHUMT00000432257.1	G	NM_004245		43533169	-1	no_errors	ENST00000220420	ensembl	human	known	70_37	missense	SNP	1.000	C
THBS3	7059	genome.wustl.edu	37	1	155167871	155167871	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155167871C>T	ENST00000368378.3	-	18	2235	c.2215G>A	c.(2215-2217)Gat>Aat	p.D739N	THBS3_ENST00000541576.1_Missense_Mutation_p.D136N|RP11-263K19.4_ENST00000453136.1_RNA|MIR92B_ENST00000607575.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.D619N|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.D268N|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000486260.1_5'Flank	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	739	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.D739H(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATCTGAGCATCACCCTCAGGA	0.587																																																	1	Substitution - Missense(1)	ovary(1)											123.0	103.0	110.0					1																	155167871		2203	4300	6503	SO:0001583	missense	7059			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2215G>A	1.37:g.155167871C>T	ENSP00000357362:p.Asp739Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.D739N	ENST00000368378.3	37	c.2215	CCDS1099.1	1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606387	0.87157	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74	5.08	5.08	0.68730	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94105	0.8110	M	0.76838	2.35	0.80722	D	1	P;D;D;D	0.76494	0.753;0.999;0.987;0.999	B;D;P;D	0.66497	0.139;0.944;0.817;0.944	D	0.94536	0.7740	10	0.87932	D	0	-19.0798	15.9977	0.80265	0.0:1.0:0.0:0.0	.	619;739;739;739	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	N	739;136;619;268	ENSP00000357362:D739N;ENSP00000444792:D136N;ENSP00000392207:D619N;ENSP00000437353:D268N	ENSP00000357362:D739N	D	-	1	0	THBS3	153434495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.813000	0.62620	2.639000	0.89480	0.563000	0.77884	GAT	THBS3	-	superfamily_ConA-like_lec_gl_sf		0.587	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS3	HGNC	protein_coding	OTTHUMT00000086856.1	C	NM_007112		155167871	-1	no_errors	ENST00000368378	ensembl	human	known	70_37	missense	SNP	1.000	T
THOC3	84321	genome.wustl.edu	37	5	175395007	175395007	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:175395007G>T	ENST00000265097.4	-	1	295	c.205C>A	c.(205-207)Cgc>Agc	p.R69S	THOC3_ENST00000510300.1_5'Flank|THOC3_ENST00000514861.1_Intron|THOC3_ENST00000513482.1_Missense_Mutation_p.R69S	NM_032361.2	NP_115737.1	Q96J01	THOC3_HUMAN	THO complex 3	69					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)	4	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GAGGCTAGGCGACGCCCGTCG	0.677																																																	0													10.0	12.0	11.0					5																	175395007		1940	3878	5818	SO:0001583	missense	84321			BC006849	CCDS4397.1	5q35.3	2013-02-11			ENSG00000051596	ENSG00000051596		"""WD repeat domain containing"", ""THO complex subunits"""	19072	protein-coding gene	gene with protein product		606929				11979277	Standard	NM_032361		Approved	TEX1, MGC5469	uc003mdg.5	Q96J01	OTTHUMG00000130658	ENST00000265097.4:c.205C>A	5.37:g.175395007G>T	ENSP00000265097:p.Arg69Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NZ53	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,pfam_PD40,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R69S	ENST00000265097.4	37	c.205	CCDS4397.1	5	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164482	0.78339	.	.	ENSG00000051596	ENST00000265097;ENST00000513482	T;T	0.60672	0.17;0.17	4.07	4.07	0.47477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.064549	0.64402	D	0.000008	T	0.61677	0.2366	L	0.45698	1.435	0.80722	D	1	P;P	0.51240	0.943;0.488	P;B	0.54346	0.749;0.373	T	0.57883	-0.7734	10	0.22706	T	0.39	-12.0637	15.4334	0.75121	0.0:0.0:1.0:0.0	.	69;69	Q6NZ53;Q96J01	.;THOC3_HUMAN	S	69	ENSP00000265097:R69S;ENSP00000422243:R69S	ENSP00000265097:R69S	R	-	1	0	THOC3	175327613	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.315000	0.51951	2.085000	0.62840	0.511000	0.50034	CGC	THOC3	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.677	THOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC3	HGNC	protein_coding	OTTHUMT00000253148.1	G			175395007	-1	no_errors	ENST00000265097	ensembl	human	known	70_37	missense	SNP	1.000	T
THPO	7066	genome.wustl.edu	37	3	184090438	184090438	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:184090438G>A	ENST00000204615.7	-	6	1139	c.925C>T	c.(925-927)Ctt>Ttt	p.L309F	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.L305F|THPO_ENST00000477594.1_5'Flank|THPO_ENST00000421442.2_Missense_Mutation_p.S270F	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	309	Pro-rich.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGGGTGGAAGAGGGAAGAGC	0.592																																																	0													152.0	161.0	158.0					3																	184090438		2203	4300	6503	SO:0001583	missense	7066				CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"""Endogenous ligands"""	11795	protein-coding gene	gene with protein product	"""prepro-thrombopoietin"", ""megakaryocyte stimulating factor"", ""myeloproliferative leukemia virus oncogene ligand"", ""megakaryocyte growth and development factor"", ""MPL ligand"", ""megakaryocyte colony-stimulating factor"", ""c-mpl ligand"", ""thrombopoietin nirs variant 1"""	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.925C>T	3.37:g.184090438G>A	ENSP00000204615:p.Leu309Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin	p.L309F	ENST00000204615.7	37	c.925	CCDS3265.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.01|17.01	3.279399|3.279399	0.59758|0.59758	.|.	.|.	ENSG00000090534|ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000353488|ENST00000421442	T;T|T	0.35605|0.38240	1.3;1.3|1.15	4.3|4.3	3.42|3.42	0.39159|0.39159	Four-helical cytokine, core (1);|.	0.539313|.	0.15754|.	N|.	0.246270|.	T|T	0.17704|0.17704	0.0425|0.0425	N|N	0.08118|0.08118	0|0	0.21220|0.21220	N|N	0.999759|0.999759	B;B|B	0.29955|0.12013	0.263;0.171|0.005	B;B|B	0.28385|0.14023	0.089;0.041|0.01	T|T	0.24012|0.24012	-1.0172|-1.0172	10|8	0.46703|.	T|.	0.11|.	-14.1851|-14.1851	7.9853|7.9853	0.30207|0.30207	0.113:0.0:0.887:0.0|0.113:0.0:0.887:0.0	.|.	305;309|270	P40225-2;P40225|F8W6L1	.;TPO_HUMAN|.	F|F	309;305;270|270	ENSP00000204615:L309F;ENSP00000410763:L305F|ENSP00000411704:S270F	ENSP00000204615:L309F|.	L|S	-|-	1|2	0|0	THPO|THPO	185573132|185573132	0.925000|0.925000	0.31364|0.31364	0.136000|0.136000	0.22124|0.22124	0.343000|0.343000	0.28985|0.28985	2.993000|2.993000	0.49425|0.49425	1.022000|1.022000	0.39626|0.39626	0.467000|0.467000	0.42956|0.42956	CTT|TCT	THPO	-	NULL		0.592	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THPO	HGNC	protein_coding	OTTHUMT00000345554.1	G	NM_000460		184090438	-1	no_errors	ENST00000204615	ensembl	human	known	70_37	missense	SNP	0.714	A
THRAP3	9967	genome.wustl.edu	37	1	36752157	36752157	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:36752157C>G	ENST00000354618.5	+	4	550	c.326C>G	c.(325-327)tCa>tGa	p.S109*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.S109*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	109	Arg-rich.|Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AACTACCGCTCAAATTGGCAG	0.522			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)			Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													119.0	120.0	120.0					1																	36752157		2203	4300	6503	SO:0001587	stop_gained	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.326C>G	1.37:g.36752157C>G	ENSP00000346634:p.Ser109*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPS5|Q5VTK6	Nonsense_Mutation	SNP	NULL	p.S109*	ENST00000354618.5	37	c.326	CCDS405.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.244341	0.97408	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	.	.	.	5.76	5.76	0.90799	.	0.097795	0.44902	D	0.000404	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-7.0846	19.312	0.94192	0.0:1.0:0.0:0.0	.	.	.	.	X	109	.	ENSP00000346634:S109X	S	+	2	0	THRAP3	36524744	0.345000	0.24835	0.990000	0.47175	0.991000	0.79684	4.127000	0.57944	2.882000	0.98803	0.655000	0.94253	TCA	THRAP3	-	NULL		0.522	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	HGNC	protein_coding	OTTHUMT00000021688.2	C	NM_005119		36752157	+1	no_errors	ENST00000354618	ensembl	human	known	70_37	nonsense	SNP	0.996	G
THSD7A	221981	genome.wustl.edu	37	7	11676040	11676040	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:11676040C>G	ENST00000423059.4	-	2	990	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	247	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E247K(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCCTCGGCCTCGCATGGACTG	0.632										HNSCC(18;0.044)																																							1	Substitution - Missense(1)	breast(1)											52.0	50.0	50.0					7																	11676040		2068	4203	6271	SO:0001583	missense	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.739G>C	7.37:g.11676040C>G	ENSP00000406482:p.Glu247Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.E247Q	ENST00000423059.4	37	c.739	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	C	3.372	-0.128156	0.06753	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58940	0.3	5.62	4.75	0.60458	.	0.150621	0.64402	D	0.000014	T	0.49830	0.1580	L	0.46157	1.445	0.37457	D	0.915063	B	0.23185	0.081	B	0.28709	0.093	T	0.50285	-0.8846	10	0.22109	T	0.4	.	11.4625	0.50219	0.0:0.8103:0.0:0.1897	.	247	Q9UPZ6	THS7A_HUMAN	Q	247	ENSP00000406482:E247Q	ENSP00000262042:E247Q	E	-	1	0	THSD7A	11642565	0.000000	0.05858	0.041000	0.18516	0.005000	0.04900	0.020000	0.13466	1.520000	0.48965	-0.224000	0.12420	GAG	THSD7A	-	smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.632	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	C	XM_928187.2		11676040	-1	no_errors	ENST00000423059	ensembl	human	known	70_37	missense	SNP	0.606	G
TIAM1	7074	genome.wustl.edu	37	21	32554751	32554751	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:32554751G>C	ENST00000286827.3	-	16	3345	c.2874C>G	c.(2872-2874)ctC>ctG	p.L958L	TIAM1_ENST00000541036.1_Silent_p.L898L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	958					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGTTGCTGGTGAGAAAGGCGA	0.642																																																	0													15.0	17.0	16.0					21																	32554751		2203	4300	6503	SO:0001819	synonymous_variant	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2874C>G	21.37:g.32554751G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.L958	ENST00000286827.3	37	c.2874	CCDS13609.1	21																																																																																			TIAM1	-	NULL		0.642	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	G	NM_003253		32554751	-1	no_errors	ENST00000286827	ensembl	human	known	70_37	silent	SNP	1.000	C
TICAM1	148022	genome.wustl.edu	37	19	4818198	4818198	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:4818198C>G	ENST00000248244.5	-	2	421	c.192G>C	c.(190-192)ttG>ttC	p.L64F		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	64					apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CATCGGCCTTCAATGCCTCTA	0.677																																																	0													21.0	21.0	21.0					19																	4818198		2203	4300	6503	SO:0001583	missense	148022			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.192G>C	19.37:g.4818198C>G	ENSP00000248244:p.Leu64Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam	p.L64F	ENST00000248244.5	37	c.192	CCDS12136.1	19	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576245	0.65878	.	.	ENSG00000127666	ENST00000248244	T	0.52754	0.65	4.84	-0.306	0.12780	.	0.000000	0.30752	N	0.008959	T	0.59582	0.2204	M	0.62723	1.935	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52064	-0.8625	10	0.87932	D	0	-20.5533	9.3458	0.38107	0.0:0.5077:0.4152:0.0771	.	64	Q8IUC6	TCAM1_HUMAN	F	64	ENSP00000248244:L64F	ENSP00000248244:L64F	L	-	3	2	TICAM1	4769198	0.000000	0.05858	0.007000	0.13788	0.153000	0.21895	-0.036000	0.12185	0.078000	0.16900	0.591000	0.81541	TTG	TICAM1	-	pirsf_Tol-interleuk_rcpt_adapt_Ticam		0.677	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	HGNC	protein_coding	OTTHUMT00000450435.1	C	NM_014261		4818198	-1	no_errors	ENST00000248244	ensembl	human	known	70_37	missense	SNP	0.074	G
TICRR	90381	genome.wustl.edu	37	15	90127592	90127592	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:90127592C>T	ENST00000268138.7	+	3	1115	c.1010C>T	c.(1009-1011)cCa>cTa	p.P337L	TICRR_ENST00000560985.1_Missense_Mutation_p.P336L|RP11-429B14.3_ENST00000560477.1_RNA|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	337					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TTTCAGAAACCAGTCAGAATT	0.473																																																	0													74.0	72.0	73.0					15																	90127592		1838	4085	5923	SO:0001583	missense	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1010C>T	15.37:g.90127592C>T	ENSP00000268138:p.Pro337Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.P337L	ENST00000268138.7	37	c.1010	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	C	14.37	2.513680	0.44763	.	.	ENSG00000140534	ENST00000268138	T	0.18502	2.21	5.26	5.26	0.73747	.	0.247439	0.41823	D	0.000815	T	0.30665	0.0772	L	0.52364	1.645	0.54753	D	0.999988	D	0.71674	0.998	D	0.63597	0.916	T	0.02491	-1.1151	10	0.07030	T	0.85	-8.088	17.4083	0.87479	0.0:1.0:0.0:0.0	.	337	Q7Z2Z1	TICRR_HUMAN	L	337	ENSP00000268138:P337L	ENSP00000268138:P337L	P	+	2	0	C15orf42	87928596	1.000000	0.71417	0.981000	0.43875	0.123000	0.20343	5.169000	0.64984	2.624000	0.88883	0.650000	0.86243	CCA	TICRR	-	NULL		0.473	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	C	NM_152259		90127592	+1	no_errors	ENST00000268138	ensembl	human	known	70_37	missense	SNP	0.994	T
TIGD5	84948	genome.wustl.edu	37	8	144681231	144681231	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:144681231C>T	ENST00000504548.2	+	1	1158	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|TIGD5_ENST00000321385.3_Silent_p.L337L|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000531621.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000528610.1_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	386						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGGAGCCCCTCGGTCCCCCGG	0.721																																																	0													7.0	10.0	9.0					8																	144681231		2136	4232	6368	SO:0001819	synonymous_variant	84948			AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1158C>T	8.37:g.144681231C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.L386	ENST00000504548.2	37	c.1158	CCDS6406.2	8																																																																																			TIGD5	-	NULL		0.721	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD5	HGNC	protein_coding	OTTHUMT00000368269.1	C	NM_032862		144681231	+1	no_errors	ENST00000504548	ensembl	human	known	70_37	silent	SNP	0.000	T
TIMM22	29928	genome.wustl.edu	37	17	900554	900554	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:900554G>A	ENST00000327158.4	+	1	198	c.172G>A	c.(172-174)Gag>Aag	p.E58K		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	58					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CAAGAGTGAGGAGCAGAAGAT	0.647																																																	0													57.0	54.0	55.0					17																	900554		2203	4299	6502	SO:0001583	missense	29928			AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"""testis-expressed sequence 4"""	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.172G>A	17.37:g.900554G>A	ENSP00000320236:p.Glu58Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NWI8	Missense_Mutation	SNP	pfam_Tim17/Tim22/Tim23/PMP24	p.E58K	ENST00000327158.4	37	c.172	CCDS32521.1	17	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594058	0.86953	.	.	ENSG00000177370	ENST00000327158	T	0.48522	0.81	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.50633	0.1627	L	0.59436	1.845	0.80722	D	1	P	0.48834	0.916	B	0.43123	0.409	T	0.56135	-0.8029	10	0.59425	D	0.04	-31.4488	18.4729	0.90781	0.0:0.0:1.0:0.0	.	58	Q9Y584	TIM22_HUMAN	K	58	ENSP00000320236:E58K	ENSP00000320236:E58K	E	+	1	0	TIMM22	847304	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.634000	0.67833	2.585000	0.87301	0.485000	0.47835	GAG	TIMM22	-	NULL		0.647	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM22	HGNC	protein_coding	OTTHUMT00000450107.2	G	NM_013337		900554	+1	no_errors	ENST00000327158	ensembl	human	known	70_37	missense	SNP	1.000	A
TIMM9	26520	genome.wustl.edu	37	14	58875635	58875635	+	3'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:58875635G>A	ENST00000395159.2	-	0	912				TIMM9_ENST00000555061.1_3'UTR|RP11-517O13.1_ENST00000556734.1_RNA|TIMM9_ENST00000555593.1_3'UTR|TIMM9_ENST00000216463.4_5'UTR|TIMM9_ENST00000556007.2_3'UTR	NM_012460.2	NP_036592.1	Q9Y5J7	TIM9_HUMAN	translocase of inner mitochondrial membrane 9 homolog (yeast)						cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)	chaperone binding (GO:0051087)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			kidney(2)|skin(1)	3						AAACAGTCATGACAGATGGTT	0.383																																																	0																																										SO:0001624	3_prime_UTR_variant	26520			AF150100	CCDS9735.1	14q22.3-q24	2008-07-04	2001-11-28		ENSG00000100575	ENSG00000100575			11819	protein-coding gene	gene with protein product		607384	"""translocase of inner mitochondrial membrane 9 (yeast) homolog"""			10552927, 14726512	Standard	NM_012460		Approved	TIM9A	uc001xds.3	Q9Y5J7	OTTHUMG00000140322	ENST00000395159.2:c.*117C>T	14.37:g.58875635G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R584	RNA	SNP	-	NULL	ENST00000395159.2	37	NULL	CCDS9735.1	14																																																																																			TIMM9	-	-		0.383	TIMM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM9	HGNC	protein_coding	OTTHUMT00000276936.2	G			58875635	-1	no_errors	ENST00000216463	ensembl	human	known	70_37	rna	SNP	0.400	A
TJP2	9414	genome.wustl.edu	37	9	71864376	71864376	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:71864376C>T	ENST00000377245.4	+	20	3174	c.2966C>T	c.(2965-2967)cCa>cTa	p.P989L	TJP2_ENST00000348208.4_Intron|TJP2_ENST00000539225.1_Missense_Mutation_p.P1020L|TJP2_ENST00000453658.2_Intron|TJP2_ENST00000535702.1_Intron	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	989					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AGCCCGCCCCCAGCATTCAAG	0.587																																																	0													31.0	26.0	28.0					9																	71864376		2203	4300	6503	SO:0001583	missense	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2966C>T	9.37:g.71864376C>T	ENSP00000366453:p.Pro989Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens	p.P1020L	ENST00000377245.4	37	c.3059	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655818	0.88056	.	.	ENSG00000119139	ENST00000377245;ENST00000539225	T;T	0.10382	2.88;2.92	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.91635	0.999;0.854	T	0.00510	-1.1697	10	0.87932	D	0	.	19.8885	0.96919	0.0:1.0:0.0:0.0	.	1020;989	F5H301;Q9UDY2	.;ZO2_HUMAN	L	989;1020	ENSP00000366453:P989L;ENSP00000438262:P1020L	ENSP00000366453:P989L	P	+	2	0	TJP2	71054196	1.000000	0.71417	0.976000	0.42696	0.998000	0.95712	6.439000	0.73430	2.700000	0.92200	0.563000	0.77884	CCA	TJP2	-	NULL		0.587	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	C	NM_201629		71864376	+1	no_errors	ENST00000539225	ensembl	human	known	70_37	missense	SNP	1.000	T
TKTL1	8277	genome.wustl.edu	37	X	153524261	153524261	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:153524261G>A	ENST00000369915.3	+	1	238	c.49G>A	c.(49-51)Gac>Aac	p.D17N	TEX28_ENST00000369926.1_5'Flank|TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	17					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCAGACCTGACAGGGGCAC	0.597																																																	0													110.0	97.0	101.0					X																	153524261		2203	4300	6503	SO:0001583	missense	8277			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.49G>A	X.37:g.153524261G>A	ENSP00000358931:p.Asp17Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.D17N	ENST00000369915.3	37	c.49	CCDS35448.1	X	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841623	0.51057	.	.	ENSG00000007350	ENST00000369915	T	0.21932	1.98	4.53	2.6	0.31112	.	0.298370	0.30201	N	0.010175	T	0.20333	0.0489	M	0.64997	1.995	0.80722	D	1	B;B	0.17038	0.02;0.02	B;B	0.17433	0.018;0.018	T	0.04885	-1.0920	10	0.49607	T	0.09	-25.4134	7.3439	0.26652	0.1045:0.1663:0.7292:0.0	.	17;17	B7Z7I0;P51854	.;TKTL1_HUMAN	N	17	ENSP00000358931:D17N	ENSP00000358931:D17N	D	+	1	0	TKTL1	153177455	0.998000	0.40836	0.004000	0.12327	0.025000	0.11179	2.424000	0.44714	0.819000	0.34492	0.529000	0.55759	GAC	TKTL1	-	NULL		0.597	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL1	HGNC	protein_coding	OTTHUMT00000058923.1	G	NM_012253		153524261	+1	no_errors	ENST00000369915	ensembl	human	known	70_37	missense	SNP	0.764	A
TLK1	9874	genome.wustl.edu	37	2	172016841	172016841	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:172016841G>C	ENST00000431350.2	-	1	502	c.98C>G	c.(97-99)tCc>tGc	p.S33C	TLK1_ENST00000360843.3_Missense_Mutation_p.S33C|TLK1_ENST00000521943.1_Intron|TLK1_ENST00000442919.2_5'UTR			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	33					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ATTCAGCAGGGACCTGGCCGC	0.711																																																	0													25.0	33.0	30.0					2																	172016841		2202	4298	6500	SO:0001583	missense	9874			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.98C>G	2.37:g.172016841G>C	ENSP00000411099:p.Ser33Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S33C	ENST00000431350.2	37	c.98	CCDS2241.1	2	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194175	0.38707	.	.	ENSG00000198586	ENST00000431350;ENST00000360843	T;T	0.70282	-0.47;-0.47	3.68	3.68	0.42216	.	1.316600	0.06252	U	0.692332	T	0.55242	0.1908	N	0.08118	0	0.80722	D	1	P;P	0.48640	0.913;0.705	B;B	0.43360	0.417;0.237	T	0.53968	-0.8363	10	0.87932	D	0	.	8.4298	0.32750	0.1126:0.0:0.8874:0.0	.	33;33	Q9UKI8-2;Q9UKI8	.;TLK1_HUMAN	C	33	ENSP00000411099:S33C;ENSP00000354089:S33C	ENSP00000352810:S33C	S	-	2	0	TLK1	171725087	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	3.507000	0.53371	1.900000	0.55004	0.545000	0.68477	TCC	TLK1	-	NULL		0.711	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLK1	HGNC	protein_coding	OTTHUMT00000255314.1	G	NM_012290		172016841	-1	no_errors	ENST00000431350	ensembl	human	known	70_37	missense	SNP	1.000	C
TLR10	81793	genome.wustl.edu	37	4	38775583	38775583	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:38775583C>G	ENST00000308973.4	-	4	2234	c.1629G>C	c.(1627-1629)atG>atC	p.M543I	TLR10_ENST00000506111.1_Missense_Mutation_p.M543I|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000361424.2_Missense_Mutation_p.M543I|TLR10_ENST00000508334.1_Missense_Mutation_p.M543I	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	543	LRRCT.				immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATCCAACCATCATGACCTCTG	0.398																																																	0													91.0	90.0	91.0					4																	38775583		2203	4300	6503	SO:0001583	missense	81793			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1629G>C	4.37:g.38775583C>G	ENSP00000308925:p.Met543Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom	p.M543I	ENST00000308973.4	37	c.1629	CCDS3445.1	4	.	.	.	.	.	.	.	.	.	.	C	7.990	0.753001	0.15778	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.32	4.48	0.54585	Cysteine-rich flanking region, C-terminal (1);	0.605342	0.14577	N	0.311093	T	0.18467	0.0443	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.20184	0.028	T	0.20638	-1.0269	10	0.51188	T	0.08	.	14.1491	0.65370	0.0:0.9273:0.0:0.0727	.	543	Q9BXR5	TLR10_HUMAN	I	543	ENSP00000308925:M543I;ENSP00000421483:M543I;ENSP00000354459:M543I;ENSP00000424923:M543I	ENSP00000308925:M543I	M	-	3	0	TLR10	38451978	0.004000	0.15560	0.731000	0.30826	0.661000	0.39034	1.782000	0.38654	1.242000	0.43836	0.585000	0.79938	ATG	TLR10	-	smart_Cys-rich_flank_reg_C,pirsf_Toll-like_receptor		0.398	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR10	HGNC	protein_coding	OTTHUMT00000250430.1	C			38775583	-1	no_errors	ENST00000308973	ensembl	human	known	70_37	missense	SNP	0.292	G
TLR10	81793	genome.wustl.edu	37	4	38776233	38776233	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:38776233C>T	ENST00000308973.4	-	4	1584	c.979G>A	c.(979-981)Gac>Aac	p.D327N	TLR10_ENST00000506111.1_Missense_Mutation_p.D327N|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000361424.2_Missense_Mutation_p.D327N|TLR10_ENST00000508334.1_Missense_Mutation_p.D327N	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	327					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TTTTCTATGTCCATTTTGGTC	0.308																																																	0													93.0	96.0	95.0					4																	38776233		2203	4300	6503	SO:0001583	missense	81793			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.979G>A	4.37:g.38776233C>T	ENSP00000308925:p.Asp327Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom	p.D327N	ENST00000308973.4	37	c.979	CCDS3445.1	4	.	.	.	.	.	.	.	.	.	.	C	0.441	-0.898606	0.02472	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	4.99	4.15	0.48705	.	0.346876	0.20096	N	0.099322	T	0.58438	0.2122	N	0.04994	-0.135	0.25760	N	0.984957	B	0.02656	0.0	B	0.06405	0.002	T	0.48758	-0.9007	10	0.02654	T	1	.	6.21	0.20623	0.0:0.6691:0.0:0.3309	.	327	Q9BXR5	TLR10_HUMAN	N	327	ENSP00000308925:D327N;ENSP00000421483:D327N;ENSP00000354459:D327N;ENSP00000424923:D327N	ENSP00000308925:D327N	D	-	1	0	TLR10	38452628	0.003000	0.15002	0.998000	0.56505	0.916000	0.54674	-0.341000	0.07811	1.100000	0.41517	-0.237000	0.12165	GAC	TLR10	-	pirsf_Toll-like_receptor		0.308	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR10	HGNC	protein_coding	OTTHUMT00000250430.1	C			38776233	-1	no_errors	ENST00000308973	ensembl	human	known	70_37	missense	SNP	0.997	T
TLR7	51284	genome.wustl.edu	37	X	12905598	12905598	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:12905598C>G	ENST00000380659.3	+	3	2110	c.1971C>G	c.(1969-1971)atC>atG	p.I657M		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	657					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AATTAGACATCTCTAAAAATT	0.343																																																	0													68.0	74.0	72.0					X																	12905598		2202	4297	6499	SO:0001583	missense	51284			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1971C>G	X.37:g.12905598C>G	ENSP00000370034:p.Ile657Met	Somatic		WXS	Illumina HiSeq	Phase_IV	D1CS69|Q9NR98	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.I657M	ENST00000380659.3	37	c.1971	CCDS14151.1	X	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882169	0.33255	.	.	ENSG00000196664	ENST00000380659	T	0.80824	-1.42	5.46	2.19	0.27852	.	0.000000	0.85682	D	0.000000	T	0.79896	0.4525	L	0.33339	1.005	0.47698	D	0.999499	D	0.89917	1.0	D	0.83275	0.996	T	0.76764	-0.2839	10	0.72032	D	0.01	.	2.8079	0.05432	0.0:0.2792:0.2431:0.4778	.	657	Q9NYK1	TLR7_HUMAN	M	657	ENSP00000370034:I657M	ENSP00000370034:I657M	I	+	3	3	TLR7	12815519	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	0.743000	0.26231	0.478000	0.27488	0.529000	0.55759	ATC	TLR7	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.343	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR7	HGNC	protein_coding	OTTHUMT00000055769.1	C	NM_016562		12905598	+1	no_errors	ENST00000380659	ensembl	human	known	70_37	missense	SNP	1.000	G
TLR7	51284	genome.wustl.edu	37	X	12905745	12905745	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:12905745C>G	ENST00000380659.3	+	3	2257	c.2118C>G	c.(2116-2118)ctC>ctG	p.L706L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	706					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CTTTGGACCTCAGCCACAACC	0.423																																																	0													67.0	70.0	69.0					X																	12905745		2203	4298	6501	SO:0001819	synonymous_variant	51284			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2118C>G	X.37:g.12905745C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D1CS69|Q9NR98	Silent	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L706	ENST00000380659.3	37	c.2118	CCDS14151.1	X																																																																																			TLR7	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.423	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR7	HGNC	protein_coding	OTTHUMT00000055769.1	C	NM_016562		12905745	+1	no_errors	ENST00000380659	ensembl	human	known	70_37	silent	SNP	0.996	G
TLX1	3195	genome.wustl.edu	37	10	102896478	102896478	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:102896478G>A	ENST00000370196.6	+	3	2843	c.801G>A	c.(799-801)gaG>gaA	p.E267E	RP11-31L23.3_ENST00000411459.1_RNA|TLX1_ENST00000467928.2_3'UTR			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	267					cell fate commitment (GO:0045165)|central nervous system development (GO:0007417)|neuron differentiation (GO:0030182)|organ formation (GO:0048645)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spleen development (GO:0048536)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GGGAGGCCGAGAGGCAGCAAG	0.662			T	"""TRB@, TRD@"""	T-ALL																																			Dom	yes		10	10q24	3195	""" T-cell leukemia, homeobox 1 (HOX11)"""		L	0													56.0	59.0	58.0					10																	102896478		2203	4300	6503	SO:0001819	synonymous_variant	3195			M62626	CCDS7510.1, CCDS55725.1	10q24.32	2011-06-20	2005-12-22	2002-05-31	ENSG00000107807	ENSG00000107807		"""Homeoboxes / ANTP class : NKL subclass"""	5056	protein-coding gene	gene with protein product	"""Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)"", ""homeo box 11 (T-cell lymphoma 3-associated breakpoint)"""	186770	"""homeo box 11 (T-cell lymphoma 3-associated breakpoint)"", ""T-cell leukemia, homeobox 1"""	TCL3, HOX11		1676542, 1973146	Standard	NM_005521		Approved		uc001ksw.3	P31314	OTTHUMG00000019341	ENST00000370196.6:c.801G>A	10.37:g.102896478G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4G3|O75699|Q5VXP2|Q9HCA0|Q9UD59	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.E267	ENST00000370196.6	37	c.801	CCDS7510.1	10																																																																																			TLX1	-	NULL		0.662	TLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLX1	HGNC	protein_coding	OTTHUMT00000051193.3	G	NM_005521		102896478	+1	no_errors	ENST00000370196	ensembl	human	known	70_37	silent	SNP	1.000	A
TLX3	30012	genome.wustl.edu	37	5	170736771	170736771	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:170736771C>T	ENST00000296921.5	+	1	484	c.402C>T	c.(400-402)ttC>ttT	p.F134F		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	134					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCGCCGCTTCGTGAAAGACC	0.701			T	BCL11B	T-ALL																																Esophageal Squamous(33;43 807 3116 3348 30094)			Dom	yes		5	5q35.1	30012	"""T-cell leukemia, homeobox 3 (HOX11L2)"""		L	0													15.0	19.0	18.0					5																	170736771		2165	4253	6418	SO:0001819	synonymous_variant	30012			AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"""Homeoboxes / ANTP class : NKL subclass"""	13532	protein-coding gene	gene with protein product		604640	"""homeo box 11-like 2"", ""T-cell leukemia, homeobox 3"""	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.402C>T	5.37:g.170736771C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AD3	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.F134	ENST00000296921.5	37	c.402	CCDS34288.1	5																																																																																			TLX3	-	NULL		0.701	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TLX3	HGNC	protein_coding	OTTHUMT00000372076.3	C			170736771	+1	no_errors	ENST00000296921	ensembl	human	known	70_37	silent	SNP	1.000	T
TM6SF1	53346	genome.wustl.edu	37	15	83791585	83791585	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:83791585C>G	ENST00000322019.9	+	6	832	c.558C>G	c.(556-558)ttC>ttG	p.F186L	TM6SF1_ENST00000379390.6_Intron|TM6SF1_ENST00000379386.4_Missense_Mutation_p.F189L|TM6SF1_ENST00000565774.1_Missense_Mutation_p.F186L			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	186						integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GGGCTGGTTTCAGAATCTATA	0.368																																																	0													108.0	99.0	102.0					15																	83791585		2202	4300	6502	SO:0001583	missense	53346			AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.558C>G	15.37:g.83791585C>G	ENSP00000317000:p.Phe186Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7T5|H3BU56|Q4U0U5	Missense_Mutation	SNP	pfam_Transmembrane_6/97	p.F189L	ENST00000322019.9	37	c.567	CCDS10323.1	15	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276562	0.40294	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384	T;T	0.26957	1.7;1.7	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.17408	0.0418	L	0.38838	1.175	0.80722	D	1	P;P	0.42456	0.78;0.78	B;B	0.34931	0.192;0.192	T	0.04693	-1.0933	10	0.12766	T	0.61	-1.5297	12.9056	0.58149	0.0:0.9255:0.0:0.0745	.	186;186	E9PD04;Q9BZW5	.;TM6S1_HUMAN	L	186;189;186	ENSP00000317000:F186L;ENSP00000368696:F189L	ENSP00000317000:F186L	F	+	3	2	TM6SF1	81582589	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.358000	0.44134	2.941000	0.99782	0.655000	0.94253	TTC	TM6SF1	-	NULL		0.368	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TM6SF1	HGNC	protein_coding	OTTHUMT00000304009.1	C	NM_023003		83791585	+1	no_errors	ENST00000379386	ensembl	human	known	70_37	missense	SNP	1.000	G
TM7SF3	51768	genome.wustl.edu	37	12	27156275	27156275	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:27156275C>G	ENST00000343028.4	-	2	365	c.140G>C	c.(139-141)aGg>aCg	p.R47T	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	47						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TGGAAAGGGCCTATTGAGCTC	0.338																																																	0													60.0	57.0	58.0					12																	27156275		2203	4299	6502	SO:0001583	missense	51768			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.140G>C	12.37:g.27156275C>G	ENSP00000342322:p.Arg47Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMZ3|Q9NUS4	Missense_Mutation	SNP	NULL	p.R47T	ENST00000343028.4	37	c.140	CCDS8710.1	12	.	.	.	.	.	.	.	.	.	.	C	6.741	0.505436	0.12822	.	.	ENSG00000064115	ENST00000343028;ENST00000512808;ENST00000545600	T	0.31247	1.5	5.57	-2.02	0.07388	.	0.671247	0.15957	N	0.236434	T	0.20981	0.0505	L	0.51422	1.61	0.09310	N	1	B	0.31125	0.309	B	0.21917	0.037	T	0.24693	-1.0153	10	0.16420	T	0.52	-5.1386	11.4844	0.50344	0.0:0.4004:0.0:0.5996	.	47	Q9NS93	TM7S3_HUMAN	T	47;26;52	ENSP00000342322:R47T	ENSP00000342322:R47T	R	-	2	0	TM7SF3	27047542	0.000000	0.05858	0.002000	0.10522	0.310000	0.27922	0.182000	0.16900	-0.283000	0.09115	-0.355000	0.07637	AGG	TM7SF3	-	NULL		0.338	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF3	HGNC	protein_coding	OTTHUMT00000403033.1	C	NM_016551		27156275	-1	no_errors	ENST00000343028	ensembl	human	known	70_37	missense	SNP	0.000	G
TM9SF1	10548	genome.wustl.edu	37	14	24663944	24663944	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:24663944C>G	ENST00000261789.4	-	2	640	c.282G>C	c.(280-282)gaG>gaC	p.E94D	TM9SF1_ENST00000524835.1_Missense_Mutation_p.E7D|TM9SF1_ENST00000396854.4_Missense_Mutation_p.E94D|TM9SF1_ENST00000528669.1_Missense_Mutation_p.E94D|TM9SF1_ENST00000556387.1_Missense_Mutation_p.E303D|TM9SF1_ENST00000530611.1_Missense_Mutation_p.E303D	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	94					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		GAAAGCGGATCTCATACAAAG	0.522																																																	0													297.0	297.0	297.0					14																	24663944		2203	4300	6503	SO:0001583	missense	10548			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.282G>C	14.37:g.24663944C>G	ENSP00000261789:p.Glu94Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	pfam_EMP70,pfam_Snf7	p.E303D	ENST00000261789.4	37	c.909	CCDS9617.1	14	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568698	0.45798	.	.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000528895;ENST00000530563;ENST00000530468;ENST00000525592;ENST00000528010;ENST00000530611	T;T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.17	5.17	0.71159	.	0.377371	0.26734	N	0.022771	T	0.21427	0.0516	N	0.05554	-0.025	0.29936	N	0.821467	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.08722	-1.0708	10	0.23302	T	0.38	-4.7549	9.5581	0.39351	0.0:0.9076:0.0:0.0924	.	94;94	Q86SZ6;O15321	.;TM9S1_HUMAN	D	94;94;303;7;94;94;7;94;94;94;303	ENSP00000261789:E94D;ENSP00000432997:E94D;ENSP00000451949:E303D;ENSP00000434387:E7D;ENSP00000380063:E94D;ENSP00000431447:E94D;ENSP00000437127:E7D;ENSP00000435857:E94D;ENSP00000432435:E94D;ENSP00000433792:E94D;ENSP00000433967:E303D	ENSP00000433967:E303D	E	-	3	2	TM9SF1;RP11-468E2.1	23733784	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.159000	0.42339	2.700000	0.92200	0.563000	0.77884	GAG	TM9SF1	-	pfam_EMP70		0.522	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	TM9SF1	HGNC	protein_coding	OTTHUMT00000073136.2	C	NM_006405		24663944	-1	no_errors	ENST00000556387	ensembl	human	known	70_37	missense	SNP	1.000	G
TMC7	79905	genome.wustl.edu	37	16	19020719	19020719	+	Missense_Mutation	SNP	C	C	G	rs537147080		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:19020719C>G	ENST00000304381.5	+	2	423	c.293C>G	c.(292-294)tCt>tGt	p.S98C	TMC7_ENST00000421369.3_5'UTR|RNU6-1340P_ENST00000384438.1_RNA|TMC7_ENST00000569532.1_Missense_Mutation_p.S98C	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	98					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTGAACATCTCTGAGAAGCGG	0.468																																																	0													93.0	95.0	94.0					16																	19020719		2197	4300	6497	SO:0001583	missense	79905			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.293C>G	16.37:g.19020719C>G	ENSP00000304710:p.Ser98Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	pfam_TMC	p.S98C	ENST00000304381.5	37	c.293	CCDS10573.1	16	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895930	0.72639	.	.	ENSG00000170537	ENST00000304381	T	0.52057	0.68	5.83	5.83	0.93111	.	0.353030	0.29587	N	0.011734	T	0.64316	0.2587	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;P;D	0.72075	0.976;0.894;0.912	T	0.64101	-0.6486	10	0.62326	D	0.03	.	15.6163	0.76769	0.0:1.0:0.0:0.0	.	98;98;98	B4DF02;Q7Z402;B3KSZ3	.;TMC7_HUMAN;.	C	98	ENSP00000304710:S98C	ENSP00000304710:S98C	S	+	2	0	TMC7	18928220	0.968000	0.33430	0.971000	0.41717	0.933000	0.57130	2.560000	0.45896	2.756000	0.94617	0.655000	0.94253	TCT	TMC7	-	NULL		0.468	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3	C	NM_024847		19020719	+1	no_errors	ENST00000304381	ensembl	human	known	70_37	missense	SNP	0.995	G
TMED5	50999	genome.wustl.edu	37	1	93621908	93621908	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:93621908C>G	ENST00000370282.3	-	3	905	c.420G>C	c.(418-420)aaG>aaC	p.K140N	TMED5_ENST00000479918.1_Missense_Mutation_p.K140N|TMED5_ENST00000483033.1_5'UTR|TMED5_ENST00000370280.1_Missense_Mutation_p.K140N	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	140					Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		TAATATATTTCTTCCAATCTT	0.353																																																	0													185.0	175.0	179.0					1																	93621908		2203	4300	6503	SO:0001583	missense	50999			BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.420G>C	1.37:g.93621908C>G	ENSP00000359305:p.Lys140Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKT4|B2R703|D3DT38|Q96AX8	Missense_Mutation	SNP	pfam_GOLD,superfamily_GOLD,pfscan_GOLD	p.K140N	ENST00000370282.3	37	c.420	CCDS743.1	1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003150	0.54254	.	.	ENSG00000117500	ENST00000370282;ENST00000479918;ENST00000535517;ENST00000370280	T;T;T	0.18657	2.2;2.2;2.2	5.48	4.56	0.56223	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	L	0.31845	0.965	0.58432	D	0.999999	D;P	0.61697	0.99;0.947	D;P	0.64410	0.925;0.837	T	0.01956	-1.1240	10	0.33141	T	0.24	-29.1442	13.2941	0.60286	0.0:0.9228:0.0:0.0772	.	140;140	B1AKT4;Q9Y3A6	.;TMED5_HUMAN	N	140;140;89;140	ENSP00000359305:K140N;ENSP00000418992:K140N;ENSP00000359303:K140N	ENSP00000359303:K140N	K	-	3	2	TMED5	93394496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.972000	0.40540	1.287000	0.44583	0.585000	0.79938	AAG	TMED5	-	pfam_GOLD,superfamily_GOLD		0.353	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED5	HGNC	protein_coding	OTTHUMT00000028076.3	C	NM_016040		93621908	-1	no_errors	ENST00000370282	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM117	84216	genome.wustl.edu	37	12	44605135	44605135	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:44605135C>G	ENST00000266534.3	+	5	700	c.573C>G	c.(571-573)ttC>ttG	p.F191L	TMEM117_ENST00000536799.1_Missense_Mutation_p.F87L|TMEM117_ENST00000551577.1_Missense_Mutation_p.F191L	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	191						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CAAGAGCTTTCTGGAAGAAAG	0.393																																																	0													108.0	108.0	108.0					12																	44605135		2203	4300	6503	SO:0001583	missense	84216			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.573C>G	12.37:g.44605135C>G	ENSP00000266534:p.Phe191Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.F191L	ENST00000266534.3	37	c.573	CCDS8745.1	12	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867540	0.32977	.	.	ENSG00000139173	ENST00000551577;ENST00000266534;ENST00000536799	T;T;T	0.52295	0.67;0.67;0.67	5.92	1.99	0.26369	.	0.092055	0.85682	N	0.000000	T	0.30008	0.0751	N	0.25890	0.77	0.38088	D	0.93686	B;B;B	0.12013	0.005;0.004;0.004	B;B;B	0.13407	0.003;0.009;0.006	T	0.10753	-1.0616	10	0.56958	D	0.05	-12.0011	5.4819	0.16729	0.1271:0.6066:0.0:0.2663	.	191;87;191	F8VS00;F5H3Q2;Q9H0C3	.;.;TM117_HUMAN	L	191;191;87	ENSP00000448595:F191L;ENSP00000266534:F191L;ENSP00000445243:F87L	ENSP00000266534:F191L	F	+	3	2	TMEM117	42891402	0.998000	0.40836	1.000000	0.80357	0.586000	0.36452	0.466000	0.22019	0.384000	0.24942	-0.136000	0.14681	TTC	TMEM117	-	NULL		0.393	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM117	HGNC	protein_coding	OTTHUMT00000403969.1	C	NM_032256		44605135	+1	no_errors	ENST00000266534	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM127	55654	genome.wustl.edu	37	2	96920718	96920718	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:96920718G>C	ENST00000258439.3	-	3	518	c.262C>G	c.(262-264)Cag>Gag	p.Q88E	TMEM127_ENST00000432959.1_Missense_Mutation_p.Q88E|TMEM127_ENST00000435268.1_Missense_Mutation_p.Q4E	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	88					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						AGCACTGTCTGGGGATTCATG	0.537																																																	0													61.0	63.0	62.0					2																	96920718		2203	4300	6503	SO:0001583	missense	55654			AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.262C>G	2.37:g.96920718G>C	ENSP00000258439:p.Gln88Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DXH0	Missense_Mutation	SNP	NULL	p.Q88E	ENST00000258439.3	37	c.262	CCDS2018.1	2	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762121	0.49468	.	.	ENSG00000135956	ENST00000258439;ENST00000432959;ENST00000435268	T;T;T	0.81247	-1.47;-1.47;-1.47	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.81517	0.4839	N	0.24115	0.695	0.80722	D	1	P	0.43578	0.811	P	0.54924	0.764	T	0.79914	-0.1602	10	0.38643	T	0.18	-21.2063	19.0678	0.93119	0.0:0.0:1.0:0.0	.	88	O75204	TM127_HUMAN	E	88;88;4	ENSP00000258439:Q88E;ENSP00000416660:Q88E;ENSP00000411810:Q4E	ENSP00000258439:Q88E	Q	-	1	0	TMEM127	96284445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	2.813000	0.96785	0.655000	0.94253	CAG	TMEM127	-	NULL		0.537	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM127	HGNC	protein_coding	OTTHUMT00000252845.3	G	NM_017849		96920718	-1	no_errors	ENST00000258439	ensembl	human	known	70_37	missense	SNP	1.000	C
TMEM132B	114795	genome.wustl.edu	37	12	125834468	125834468	+	Missense_Mutation	SNP	C	C	G	rs369009903		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:125834468C>G	ENST00000299308.3	+	2	531	c.523C>G	c.(523-525)Cgg>Ggg	p.R175G	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	175						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCCAGCTGTCGGCTGCAAGG	0.612																																																	0													55.0	60.0	59.0					12																	125834468		2007	4202	6209	SO:0001583	missense	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.523C>G	12.37:g.125834468C>G	ENSP00000299308:p.Arg175Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.R175G	ENST00000299308.3	37	c.523	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237674	0.58886	.	.	ENSG00000139364	ENST00000299308	T	0.13420	2.59	5.34	3.32	0.38043	.	.	.	.	.	T	0.19406	0.0466	M	0.68317	2.08	0.80722	D	1	P	0.47191	0.891	P	0.46685	0.524	T	0.02126	-1.1209	9	0.34782	T	0.22	.	10.2513	0.43370	0.2022:0.7154:0.0:0.0823	.	175	Q14DG7	T132B_HUMAN	G	175	ENSP00000299308:R175G	ENSP00000299308:R175G	R	+	1	2	TMEM132B	124400421	0.998000	0.40836	1.000000	0.80357	0.973000	0.67179	1.906000	0.39887	1.250000	0.43966	0.655000	0.94253	CGG	TMEM132B	-	NULL		0.612	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	C	NM_052907		125834468	+1	no_errors	ENST00000299308	ensembl	human	known	70_37	missense	SNP	0.998	G
TMEM167A	153339	genome.wustl.edu	37	5	82357701	82357701	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:82357701C>T	ENST00000502346.1	-	3	315	c.143G>A	c.(142-144)aGa>aAa	p.R48K	TMEM167A_ENST00000511450.1_5'UTR|SCARNA18_ENST00000459004.1_RNA	NM_174909.4	NP_777569.1	Q8TBQ9	KISHA_HUMAN	transmembrane protein 167A	48						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(1)	2						CTTACCAATTCTGGCACACTT	0.299																																																	0													61.0	59.0	60.0					5																	82357701		2203	4299	6502	SO:0001583	missense	153339			BC107575, AK055070	CCDS34198.1	5q14.2	2008-06-06	2008-06-06	2008-06-06	ENSG00000174695	ENSG00000174695			28330	protein-coding gene	gene with protein product			"""transmembrane protein 167"""	TMEM167		1316117	Standard	NM_174909		Approved	FLJ30508, MGC23909	uc003khx.4	Q8TBQ9	OTTHUMG00000162570	ENST00000502346.1:c.143G>A	5.37:g.82357701C>T	ENSP00000424707:p.Arg48Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P692	Missense_Mutation	SNP	pfam_DUF1242	p.R48K	ENST00000502346.1	37	c.143	CCDS34198.1	5	.	.	.	.	.	.	.	.	.	.	c	21.1	4.098749	0.76870	.	.	ENSG00000174695	ENST00000502346	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	.	.	.	0.51767	D	0.999937	B	0.28584	0.216	B	0.41466	0.358	T	0.64757	-0.6332	8	0.33141	T	0.24	.	20.2045	0.98273	0.0:1.0:0.0:0.0	.	48	Q8TBQ9	KISHA_HUMAN	K	48	.	ENSP00000424707:R48K	R	-	2	0	TMEM167A	82393457	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.473000	0.73572	2.876000	0.98609	0.645000	0.84053	AGA	TMEM167A	-	NULL		0.299	TMEM167A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM167A	HGNC	protein_coding	OTTHUMT00000369631.2	C	NM_174909		82357701	-1	no_errors	ENST00000502346	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM169	92691	genome.wustl.edu	37	2	216964747	216964747	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:216964747G>C	ENST00000295658.4	+	3	583	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	TMEM169_ENST00000437356.2_Missense_Mutation_p.E126Q|TMEM169_ENST00000406027.2_Missense_Mutation_p.E126Q|TMEM169_ENST00000454545.1_Missense_Mutation_p.E126Q	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	126						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACATTGACAGAGAAAGAGCT	0.542																																																	0													122.0	108.0	112.0					2																	216964747		2203	4300	6503	SO:0001583	missense	92691			AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.376G>C	2.37:g.216964747G>C	ENSP00000295658:p.Glu126Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8W6	Missense_Mutation	SNP	NULL	p.E126Q	ENST00000295658.4	37	c.376	CCDS2401.1	2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758153	0.89843	.	.	ENSG00000163449	ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	4.93	4.93	0.64822	.	0.097535	0.64402	D	0.000001	T	0.73481	0.3592	L	0.56769	1.78	0.80722	D	1	D	0.67145	0.996	P	0.61658	0.892	T	0.72792	-0.4186	8	.	.	.	-24.0329	17.308	0.87200	0.0:0.0:1.0:0.0	.	126	Q96HH4	TM169_HUMAN	Q	126	.	.	E	+	1	0	TMEM169	216672992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.636000	0.98440	2.550000	0.86006	0.655000	0.94253	GAG	TMEM169	-	NULL		0.542	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM169	HGNC	protein_coding	OTTHUMT00000256666.2	G	NM_138390		216964747	+1	no_errors	ENST00000295658	ensembl	human	known	70_37	missense	SNP	1.000	C
TMEM176B	28959	genome.wustl.edu	37	7	150491133	150491133	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:150491133C>G	ENST00000447204.2	-	3	603	c.231G>C	c.(229-231)gtG>gtC	p.V77V	TMEM176B_ENST00000429904.2_Silent_p.V77V|TMEM176B_ENST00000492607.1_Silent_p.V77V|TMEM176B_ENST00000450753.2_Intron|TMEM176B_ENST00000434545.1_Silent_p.V77V|TMEM176B_ENST00000326442.5_Silent_p.V77V	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	77					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAACACAACTCACAACCCCCA	0.597																																																	0													256.0	217.0	230.0					7																	150491133		2203	4300	6503	SO:0001819	synonymous_variant	28959			AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.231G>C	7.37:g.150491133C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Silent	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.V77	ENST00000447204.2	37	c.231	CCDS5908.1	7																																																																																			TMEM176B	-	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt		0.597	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM176B	HGNC	protein_coding	OTTHUMT00000349204.1	C	NM_014020		150491133	-1	no_errors	ENST00000326442	ensembl	human	known	70_37	silent	SNP	0.799	G
TMEM185B	79134	genome.wustl.edu	37	2	120979971	120979971	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:120979971G>C	ENST00000426077.2	-	1	1013	c.582C>G	c.(580-582)ctC>ctG	p.L194L		NM_024121.2	NP_077026.2	Q9H7F4	T185B_HUMAN	transmembrane protein 185B	194						integral component of membrane (GO:0016021)											GCAGGAACAGGAGGGACCAGA	0.547																																																	0																																										SO:0001819	synonymous_variant	79134			AK024632	CCDS58722.1	2q14.2	2012-08-10	2011-05-27	2007-02-05	ENSG00000226479	ENSG00000226479			18896	protein-coding gene	gene with protein product			"""family with sequence similarity 11, member B"", ""transmembrane protein 185B (pseudogene)"""	FAM11B		12404111	Standard	NM_024121		Approved	FLJ20979	uc002tmj.2	Q9H7F4	OTTHUMG00000154402	ENST00000426077.2:c.582C>G	2.37:g.120979971G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1G5|Q53T33|Q66K44|Q8IZ77	Silent	SNP	pfam_TM_Fragile-X-F-assoc	p.L194	ENST00000426077.2	37	c.582	CCDS58722.1	2																																																																																			TMEM185B	-	pfam_TM_Fragile-X-F-assoc		0.547	TMEM185B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM185B	HGNC	protein_coding	OTTHUMT00000335069.4	G	NM_024121.2		120979971	-1	no_errors	ENST00000426077	ensembl	human	known	70_37	silent	SNP	0.989	C
TMEM185B	79134	genome.wustl.edu	37	2	120980339	120980339	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:120980339G>C	ENST00000426077.2	-	1	645	c.214C>G	c.(214-216)Cgc>Ggc	p.R72G		NM_024121.2	NP_077026.2	Q9H7F4	T185B_HUMAN	transmembrane protein 185B	72						integral component of membrane (GO:0016021)											CCCTCGGTGCGGTAGCGAGGG	0.637																																																	0																																										SO:0001583	missense	79134			AK024632	CCDS58722.1	2q14.2	2012-08-10	2011-05-27	2007-02-05	ENSG00000226479	ENSG00000226479			18896	protein-coding gene	gene with protein product			"""family with sequence similarity 11, member B"", ""transmembrane protein 185B (pseudogene)"""	FAM11B		12404111	Standard	NM_024121		Approved	FLJ20979	uc002tmj.2	Q9H7F4	OTTHUMG00000154402	ENST00000426077.2:c.214C>G	2.37:g.120980339G>C	ENSP00000453399:p.Arg72Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1G5|Q53T33|Q66K44|Q8IZ77	Missense_Mutation	SNP	pfam_TM_Fragile-X-F-assoc	p.R72G	ENST00000426077.2	37	c.214	CCDS58722.1	2																																																																																			TMEM185B	-	pfam_TM_Fragile-X-F-assoc		0.637	TMEM185B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM185B	HGNC	protein_coding	OTTHUMT00000335069.4	G	NM_024121.2		120980339	-1	no_errors	ENST00000426077	ensembl	human	known	70_37	missense	SNP	0.999	C
TMEM191A	84222	genome.wustl.edu	37	22	21056386	21056386	+	RNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:21056386G>A	ENST00000450925.2	+	0	985					NR_026815.1		Q9H0A3	T191A_HUMAN	transmembrane protein 191A (pseudogene)							integral component of membrane (GO:0016021)											CCTGCCAGCCGCAGGCTGGGT	0.672																																																	0																																												84222			AL136879		22q11.21	2012-04-20	2012-04-20		ENSG00000226287	ENSG00000226287			25317	pseudogene	pseudogene			"""transmembrane protein 191A"""			11230166	Standard	NR_026815		Approved	DKFZp434N035, TMEM191AP	uc002zsx.1	Q9H0A3	OTTHUMG00000150164		22.37:g.21056386G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8E2	RNA	SNP	-	NULL	ENST00000450925.2	37	NULL		22																																																																																			TMEM191A	-	-		0.672	TMEM191A-001	KNOWN	basic	processed_transcript	TMEM191A	HGNC	processed_transcript	OTTHUMT00000316649.1	G			21056386	+1	no_errors	ENST00000450925	ensembl	human	known	70_37	rna	SNP	0.044	A
TMEM191A	84222	genome.wustl.edu	37	22	21056444	21056444	+	RNA	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:21056444G>A	ENST00000450925.2	+	0	1043					NR_026815.1		Q9H0A3	T191A_HUMAN	transmembrane protein 191A (pseudogene)							integral component of membrane (GO:0016021)											CCATGGCCGCGACGCAGGAGC	0.682																																																	0																																												84222			AL136879		22q11.21	2012-04-20	2012-04-20		ENSG00000226287	ENSG00000226287			25317	pseudogene	pseudogene			"""transmembrane protein 191A"""			11230166	Standard	NR_026815		Approved	DKFZp434N035, TMEM191AP	uc002zsx.1	Q9H0A3	OTTHUMG00000150164		22.37:g.21056444G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8E2	RNA	SNP	-	NULL	ENST00000450925.2	37	NULL		22																																																																																			TMEM191A	-	-		0.682	TMEM191A-001	KNOWN	basic	processed_transcript	TMEM191A	HGNC	processed_transcript	OTTHUMT00000316649.1	G			21056444	+1	no_errors	ENST00000450925	ensembl	human	known	70_37	rna	SNP	0.551	A
TMEM2	23670	genome.wustl.edu	37	9	74327133	74327133	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:74327133G>A	ENST00000377044.4	-	16	3174	c.2635C>T	c.(2635-2637)Cat>Tat	p.H879Y	TMEM2_ENST00000377066.5_Missense_Mutation_p.H816Y	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	879					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CTTGTGAGATGAATGGGCCCA	0.443																																																	0													135.0	125.0	128.0					9																	74327133		2203	4300	6503	SO:0001583	missense	23670				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.2635C>T	9.37:g.74327133G>A	ENSP00000366243:p.His879Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.H879Y	ENST00000377044.4	37	c.2635	CCDS6638.1	9	.	.	.	.	.	.	.	.	.	.	G	8.503	0.864721	0.17250	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.56611	0.45;0.45	5.28	5.28	0.74379	Pectin lyase fold/virulence factor (1);	0.101235	0.64402	D	0.000011	T	0.47544	0.1451	L	0.51422	1.61	0.80722	D	1	B;B	0.32800	0.267;0.385	B;B	0.40134	0.171;0.32	T	0.35301	-0.9794	10	0.02654	T	1	.	13.5709	0.61845	0.0749:0.0:0.925:0.0	.	879;816	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	Y	879;816	ENSP00000366243:H879Y;ENSP00000366266:H816Y	ENSP00000366243:H879Y	H	-	1	0	TMEM2	73516953	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.234000	0.58658	2.650000	0.89964	0.591000	0.81541	CAT	TMEM2	-	superfamily_Pectin_lyase_fold/virulence		0.443	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM2	HGNC	protein_coding	OTTHUMT00000052618.2	G	NM_013390		74327133	-1	no_errors	ENST00000377044	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM2	23670	genome.wustl.edu	37	9	74361180	74361180	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:74361180C>A	ENST00000377044.4	-	3	948	c.409G>T	c.(409-411)Gag>Tag	p.E137*	TMEM2_ENST00000377066.5_Nonsense_Mutation_p.E137*	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	137	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATATCTCCCTCCTTGATAACA	0.448																																																	0													159.0	145.0	150.0					9																	74361180		2203	4300	6503	SO:0001587	stop_gained	23670				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.409G>T	9.37:g.74361180C>A	ENSP00000366243:p.Glu137*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Nonsense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.E137*	ENST00000377044.4	37	c.409	CCDS6638.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.612641	0.96637	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	.	.	.	5.5	0.839	0.18907	.	0.488214	0.24735	N	0.036032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	5.3322	0.15938	0.0:0.2097:0.5148:0.2755	.	.	.	.	X	137	.	ENSP00000366243:E137X	E	-	1	0	TMEM2	73551000	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.372000	0.34261	0.253000	0.21552	-0.140000	0.14226	GAG	TMEM2	-	pfam_G8_domain		0.448	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM2	HGNC	protein_coding	OTTHUMT00000052618.2	C	NM_013390		74361180	-1	no_errors	ENST00000377044	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TMEM2	23670	genome.wustl.edu	37	9	74365015	74365015	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:74365015G>A	ENST00000377044.4	-	2	814	c.275C>T	c.(274-276)tCa>tTa	p.S92L	TMEM2_ENST00000377066.5_Missense_Mutation_p.S92L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	92					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AATAAAAAATGAGAAACTAGT	0.343																																																	0													79.0	72.0	74.0					9																	74365015		2203	4300	6503	SO:0001583	missense	23670				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.275C>T	9.37:g.74365015G>A	ENSP00000366243:p.Ser92Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.S92L	ENST00000377044.4	37	c.275	CCDS6638.1	9	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443769	0.63067	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.73363	-0.74;-0.69	5.35	5.35	0.76521	.	0.441621	0.25076	N	0.033340	T	0.65417	0.2689	N	0.19112	0.55	0.80722	D	1	B;B	0.27140	0.02;0.169	B;B	0.28139	0.008;0.086	T	0.62996	-0.6735	10	0.52906	T	0.07	.	19.6142	0.95626	0.0:0.0:1.0:0.0	.	92;92	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	L	92	ENSP00000366243:S92L;ENSP00000366266:S92L	ENSP00000366243:S92L	S	-	2	0	TMEM2	73554835	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.331000	0.59273	2.941000	0.99782	0.655000	0.94253	TCA	TMEM2	-	NULL		0.343	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM2	HGNC	protein_coding	OTTHUMT00000052618.2	G	NM_013390		74365015	-1	no_errors	ENST00000377044	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM200C	645369	genome.wustl.edu	37	18	5891520	5891520	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:5891520G>A	ENST00000581347.2	-	3	1188	c.543C>T	c.(541-543)atC>atT	p.I181I	TMEM200C_ENST00000383490.2_Silent_p.I181I|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	181						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CGTTTGCGCAGATGAAGAGGA	0.582																																																	0													42.0	50.0	47.0					18																	5891520		2116	4232	6348	SO:0001819	synonymous_variant	645369				CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.543C>T	18.37:g.5891520G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_DUF2371_TMEM200	p.I181	ENST00000581347.2	37	c.543	CCDS45825.1	18																																																																																			TMEM200C	-	pfam_DUF2371_TMEM200		0.582	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200C	HGNC	protein_coding	OTTHUMT00000441917.4	G	NM_001080209		5891520	-1	no_errors	ENST00000383490	ensembl	human	known	70_37	silent	SNP	0.999	A
TMEM252	169693	genome.wustl.edu	37	9	71152191	71152191	+	Missense_Mutation	SNP	C	C	G	rs375725598		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:71152191C>G	ENST00000377311.3	-	2	549	c.497G>C	c.(496-498)cGa>cCa	p.R166P		NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	166						integral component of membrane (GO:0016021)											CTCTTGGCCTCGCCTCTGGGC	0.562																																																	0													48.0	43.0	45.0					9																	71152191		2203	4300	6503	SO:0001583	missense	169693			BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.497G>C	9.37:g.71152191C>G	ENSP00000366528:p.Arg166Pro	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R166P	ENST00000377311.3	37	c.497	CCDS35040.1	9	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258399	0.23051	.	.	ENSG00000181778	ENST00000377311	.	.	.	5.96	-3.81	0.04294	.	1.159720	0.06378	N	0.714681	T	0.26557	0.0649	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27502	-1.0072	9	0.32370	T	0.25	2.3443	10.9014	0.47054	0.0:0.3449:0.5047:0.1505	.	166	Q8N6L7	CI071_HUMAN	P	166	.	ENSP00000366528:R166P	R	-	2	0	C9orf71	70342011	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.093000	0.15086	-0.548000	0.06199	-1.004000	0.02495	CGA	TMEM252	-	NULL		0.562	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM252	HGNC	protein_coding	OTTHUMT00000052551.1	C	NM_153237		71152191	-1	no_errors	ENST00000377311	ensembl	human	known	70_37	missense	SNP	0.000	G
TMEM45A	55076	genome.wustl.edu	37	3	100295885	100295885	+	3'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:100295885C>G	ENST00000323523.4	+	0	1164				TMEM45A_ENST00000403410.1_3'UTR	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A							integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						TCCAGTTTTTCTAGATAAACC	0.378																																																	0													61.0	67.0	65.0					3																	100295885		2203	4300	6503	SO:0001624	3_prime_UTR_variant	55076			AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.*23C>G	3.37:g.100295885C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53YW5	RNA	SNP	-	NULL	ENST00000323523.4	37	NULL	CCDS2937.1	3																																																																																			TMEM45A	-	-		0.378	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM45A	HGNC	protein_coding	OTTHUMT00000317571.1	C	NM_018004		100295885	+1	no_errors	ENST00000488904	ensembl	human	known	70_37	rna	SNP	0.012	G
TMEM44	93109	genome.wustl.edu	37	3	194344315	194344315	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:194344315C>T	ENST00000392432.2	-	4	673	c.468G>A	c.(466-468)ccG>ccA	p.P156P	TMEM44_ENST00000381975.3_Silent_p.P156P|TMEM44_ENST00000330115.3_Silent_p.P53P|TMEM44_ENST00000473092.1_Silent_p.P156P|TMEM44_ENST00000273580.7_Silent_p.P156P|TMEM44_ENST00000347147.4_Silent_p.P156P	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	156						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTGAAGCCTTCGGGACAGCAA	0.692																																																	0																																										SO:0001819	synonymous_variant	93109			AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.468G>A	3.37:g.194344315C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Silent	SNP	NULL	p.P156	ENST00000392432.2	37	c.468	CCDS54699.1	3																																																																																			TMEM44	-	NULL		0.692	TMEM44-002	KNOWN	basic|CCDS	protein_coding	TMEM44	HGNC	protein_coding	OTTHUMT00000342750.1	C	NM_138399		194344315	-1	no_errors	ENST00000392432	ensembl	human	known	70_37	silent	SNP	0.000	T
TMEM5	10329	genome.wustl.edu	37	12	64174868	64174868	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:64174868G>A	ENST00000261234.6	+	2	397	c.239G>A	c.(238-240)aGa>aAa	p.R80K	TMEM5_ENST00000537982.1_3'UTR|RP11-415I12.3_ENST00000509615.2_RNA|TMEM5_ENST00000537373.1_5'UTR	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	80						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CAACAACACAGATTTAAAACT	0.358																																																	0													91.0	97.0	95.0					12																	64174868		2203	4300	6503	SO:0001583	missense	10329			AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.239G>A	12.37:g.64174868G>A	ENSP00000261234:p.Arg80Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K017|Q6PKD6	Missense_Mutation	SNP	pfam_Exostosin	p.R80K	ENST00000261234.6	37	c.239	CCDS8966.1	12	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636186	0.29068	.	.	ENSG00000118600	ENST00000261234	T	0.29655	1.56	4.34	4.34	0.51931	.	0.235965	0.44285	D	0.000472	T	0.22781	0.0550	L	0.34521	1.04	0.80722	D	1	B	0.17038	0.02	B	0.13407	0.009	T	0.04360	-1.0957	9	.	.	.	-18.7834	13.0485	0.58942	0.0:0.0:1.0:0.0	.	80	Q9Y2B1	TMEM5_HUMAN	K	80	ENSP00000261234:R80K	.	R	+	2	0	TMEM5	62461135	1.000000	0.71417	0.791000	0.31998	0.391000	0.30476	3.069000	0.50026	2.342000	0.79632	0.491000	0.48974	AGA	TMEM5	-	NULL		0.358	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM5	HGNC	protein_coding	OTTHUMT00000400821.1	G	NM_014254		64174868	+1	no_errors	ENST00000261234	ensembl	human	known	70_37	missense	SNP	0.998	A
TMEM72	643236	genome.wustl.edu	37	10	45430487	45430487	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:45430487G>C	ENST00000544540.1	+	4	863	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	RP11-285G1.9_ENST00000425541.2_lincRNA|TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	245						integral component of membrane (GO:0016021)		p.E245K(2)		breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						TGGGGACAGTGAGCCAGAGGA	0.602																																																	2	Substitution - Missense(2)	lung(2)											105.0	104.0	104.0					10																	45430487		1568	3582	5150	SO:0001583	missense	643236			AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 127"""	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.379G>C	10.37:g.45430487G>C	ENSP00000439911:p.Glu127Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L181|Q5T740	Missense_Mutation	SNP	NULL	p.E127Q	ENST00000544540.1	37	c.379		10	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728588	0.69074	.	.	ENSG00000187783	ENST00000389583;ENST00000544540	.	.	.	5.41	5.41	0.78517	.	0.266405	0.30850	N	0.008743	T	0.72301	0.3443	M	0.69823	2.125	0.41174	D	0.98618	D	0.54964	0.969	P	0.52514	0.701	T	0.75531	-0.3285	9	0.59425	D	0.04	-0.1898	17.0481	0.86510	0.0:0.0:1.0:0.0	.	245	A0PK05	TMM72_HUMAN	Q	245;127	.	ENSP00000374234:E245Q	E	+	1	0	TMEM72	44750493	0.996000	0.38824	0.998000	0.56505	0.892000	0.51952	3.770000	0.55310	2.707000	0.92482	0.655000	0.94253	GAG	TMEM72	-	NULL		0.602	TMEM72-201	KNOWN	basic	protein_coding	TMEM72	HGNC	protein_coding		G	NM_001123376		45430487	+1	no_errors	ENST00000544540	ensembl	human	known	70_37	missense	SNP	1.000	C
TMEM80	283232	genome.wustl.edu	37	11	700746	700746	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:700746G>C	ENST00000608174.1	+	4	438				TMEM80_ENST00000397512.3_Intron|TMEM80_ENST00000397510.3_Intron	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80							integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGTCCTAAGAGTTGCTATC	0.438																																																	0													132.0	129.0	130.0					11																	700746		2203	4300	6503	SO:0001627	intron_variant	283232				CCDS41587.1, CCDS41587.2, CCDS73231.1	11p15.5	2005-10-18			ENSG00000177042	ENSG00000177042			27453	protein-coding gene	gene with protein product						12477932	Standard	NM_001042463		Approved	FLJ38216	uc010qwi.2	Q96HE8	OTTHUMG00000133307	ENST00000608174.1:c.301+39G>C	11.37:g.700746G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQ01|A8MXY8|B7WNU5	RNA	SNP	-	NULL	ENST00000608174.1	37	NULL	CCDS41587.1	11																																																																																			TMEM80	-	-		0.438	TMEM80-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMEM80	HGNC	protein_coding	OTTHUMT00000257104.2	G	NM_174940		700746	+1	no_errors	ENST00000488769	ensembl	human	known	70_37	rna	SNP	0.000	C
TMPRSS7	344805	genome.wustl.edu	37	3	111785331	111785331	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:111785331G>A	ENST00000452346.2	+	13	1651	c.1648G>A	c.(1648-1650)Gag>Aag	p.E550K	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.E424K			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	550	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGCCGGGATGAGCAAAACTG	0.507																																																	0													83.0	84.0	83.0					3																	111785331		1987	4181	6168	SO:0001583	missense	344805			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1648G>A	3.37:g.111785331G>A	ENSP00000398236:p.Glu550Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E424K	ENST00000452346.2	37	c.1270		3	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025427	0.93518	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.77620	-1.11;-1.11	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.90232	0.6946	M	0.89715	3.055	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	D	0.91123	0.4931	10	0.59425	D	0.04	.	17.0562	0.86534	0.0:0.0:1.0:0.0	.	550;424	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	K	550;538;524;424	ENSP00000398236:E550K;ENSP00000411645:E424K	ENSP00000411645:E424K	E	+	1	0	TMPRSS7	113268021	1.000000	0.71417	0.995000	0.50966	0.854000	0.48673	8.166000	0.89665	2.836000	0.97738	0.655000	0.94253	GAG	TMPRSS7	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt		0.507	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	HGNC	protein_coding	OTTHUMT00000347592.2	G	XM_293599		111785331	+1	no_errors	ENST00000419127	ensembl	human	known	70_37	missense	SNP	1.000	A
TMPRSS7	344805	genome.wustl.edu	37	3	111795803	111795803	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:111795803G>A	ENST00000452346.2	+	16	2039	c.2036G>A	c.(2035-2037)aGa>aAa	p.R679K	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.R553K			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	679	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCGGTGAGAAGAATTGTGGTC	0.463																																																	0													227.0	215.0	219.0					3																	111795803		1958	4162	6120	SO:0001583	missense	344805			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2036G>A	3.37:g.111795803G>A	ENSP00000398236:p.Arg679Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R553K	ENST00000452346.2	37	c.1658		3	.	.	.	.	.	.	.	.	.	.	G	35	5.419317	0.96092	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.87729	-2.29;-2.29	6.11	6.11	0.99139	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.88466	0.6444	N	0.20304	0.555	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.936	D	0.86319	0.1691	10	0.27785	T	0.31	.	17.651	0.88164	0.0:0.0:1.0:0.0	.	679;553	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	K	679;667;653;553	ENSP00000398236:R679K;ENSP00000411645:R553K	ENSP00000411645:R553K	R	+	2	0	TMPRSS7	113278493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.810000	0.91950	2.906000	0.99361	0.655000	0.94253	AGA	TMPRSS7	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.463	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	HGNC	protein_coding	OTTHUMT00000347592.2	G	XM_293599		111795803	+1	no_errors	ENST00000419127	ensembl	human	known	70_37	missense	SNP	1.000	A
TMPRSS9	360200	genome.wustl.edu	37	19	2408436	2408436	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:2408436G>A	ENST00000332578.3	+	7	823	c.823G>A	c.(823-825)Gtg>Atg	p.V275M		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	275	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGGCCCAGGTGGTCCAGAT	0.657																																																	0													95.0	81.0	86.0					19																	2408436		2203	4300	6503	SO:0001583	missense	360200			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.823G>A	19.37:g.2408436G>A	ENSP00000330264:p.Val275Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZND6|Q7Z411	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6	p.V275M	ENST00000332578.3	37	c.823	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016324	0.35606	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	T	0.66995	-0.24	4.67	2.46	0.29980	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.355592	0.19350	U	0.116431	T	0.82033	0.4949	H	0.94734	3.575	0.09310	N	1	D;D	0.76494	0.989;0.999	D;D	0.71414	0.965;0.973	T	0.70923	-0.4740	10	0.72032	D	0.01	.	3.4318	0.07432	0.254:0.2195:0.5265:0.0	.	275;309	Q7Z410;E7EMP4	TMPS9_HUMAN;.	M	309;275	ENSP00000330264:V275M	ENSP00000330264:V275M	V	+	1	0	TMPRSS9	2359436	0.438000	0.25602	0.060000	0.19600	0.225000	0.24961	1.523000	0.35932	0.924000	0.37069	0.491000	0.48974	GTG	TMPRSS9	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.657	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3	G	NM_182973		2408436	+1	no_errors	ENST00000332578	ensembl	human	known	70_37	missense	SNP	0.059	A
TMPRSS9	360200	genome.wustl.edu	37	19	2408502	2408502	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:2408502G>C	ENST00000332578.3	+	7	889	c.889G>C	c.(889-891)Gag>Cag	p.E297Q		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	297	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGTGCTGGAGCTGACCAG	0.662																																																	0													96.0	82.0	87.0					19																	2408502		2203	4300	6503	SO:0001583	missense	360200			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.889G>C	19.37:g.2408502G>C	ENSP00000330264:p.Glu297Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZND6|Q7Z411	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6	p.E297Q	ENST00000332578.3	37	c.889	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267699	0.40095	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.88431	-2.38	4.67	-6.52	0.01872	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.456016	0.17802	N	0.161516	T	0.75042	0.3796	N	0.04116	-0.275	0.41106	D	0.985707	B;B	0.32302	0.05;0.363	B;B	0.34931	0.192;0.153	T	0.56739	-0.7929	10	0.30078	T	0.28	.	19.7865	0.96442	0.0:0.7076:0.2924:0.0	.	297;331	Q7Z410;E7EMP4	TMPS9_HUMAN;.	Q	331;297	ENSP00000330264:E297Q	ENSP00000330264:E297Q	E	+	1	0	TMPRSS9	2359502	1.000000	0.71417	0.896000	0.35187	0.325000	0.28411	0.894000	0.28350	-0.508000	0.06540	0.491000	0.48974	GAG	TMPRSS9	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6		0.662	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3	G	NM_182973		2408502	+1	no_errors	ENST00000332578	ensembl	human	known	70_37	missense	SNP	0.993	C
TNFRSF14	8764	genome.wustl.edu	37	1	2493180	2493180	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:2493180C>G	ENST00000355716.4	+	6	919	c.620C>G	c.(619-621)tCa>tGa	p.S207*		NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	207					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell migration (GO:2000406)|T cell costimulation (GO:0031295)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		TGGTTTCTCTCAGGGAGCCTC	0.607			"""Mis, N, F"""		follicular lymphoma																																			Rec	yes		1	1p36.32	8764	"""tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"""		L	0													101.0	91.0	94.0					1																	2493180		2203	4300	6503	SO:0001587	stop_gained	8764			U70321	CCDS44046.1	1p36.32	2012-02-27	2011-08-11		ENSG00000157873	ENSG00000157873		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11912	protein-coding gene	gene with protein product	"""herpesvirus entry mediator"""	602746	"""tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"""			8898196, 9162061	Standard	XM_006711018		Approved	HVEM, ATAR, TR2, LIGHTR, HVEA, CD270	uc001ajt.1	Q92956	OTTHUMG00000000792	ENST00000355716.4:c.620C>G	1.37:g.2493180C>G	ENSP00000347948:p.Ser207*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65	Nonsense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_14,prints_Fas_rcpt	p.S207*	ENST00000355716.4	37	c.620	CCDS44046.1	1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406861	0.62399	.	.	ENSG00000157873	ENST00000434817;ENST00000435221;ENST00000451778;ENST00000355716	.	.	.	1.92	-1.71	0.08133	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	0.8984	5.5015	0.16831	0.0:0.5236:0.0:0.4764	.	.	.	.	X	207	.	ENSP00000347948:S207X	S	+	2	0	TNFRSF14	2481238	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-1.259000	0.02861	-0.429000	0.07329	0.205000	0.17691	TCA	TNFRSF14	-	NULL		0.607	TNFRSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF14	HGNC	protein_coding	OTTHUMT00000002088.1	C			2493180	+1	no_errors	ENST00000355716	ensembl	human	known	70_37	nonsense	SNP	0.000	G
TNFRSF18	8784	genome.wustl.edu	37	1	1139439	1139439	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:1139439C>T	ENST00000379268.2	-	4	695	c.576G>A	c.(574-576)ctG>ctA	p.L192L	TNFRSF18_ENST00000379265.5_Silent_p.L192L|TNFRSF18_ENST00000486728.1_Silent_p.L120L|TNFRSF18_ENST00000328596.6_Intron	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	192					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACTGACTCCTCAGCTGCCAGA	0.692																																					GBM(157;472 1934 13810 14591 35952)												0													18.0	20.0	19.0					1																	1139439		2180	4289	6469	SO:0001819	synonymous_variant	8784			AF125304	CCDS9.1, CCDS10.1, CCDS30552.1	1p36.3	2011-08-11			ENSG00000186891	ENSG00000186891		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11914	protein-coding gene	gene with protein product		603905				9177197, 10037686	Standard	NM_004195		Approved	AITR, GITR, CD357	uc001add.3	Q9Y5U5	OTTHUMG00000001414	ENST00000379268.2:c.576G>A	1.37:g.1139439C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AME1|O95851|Q5U0I4|Q9NYJ9	Silent	SNP	smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_18	p.L192	ENST00000379268.2	37	c.576	CCDS10.1	1																																																																																			TNFRSF18	-	NULL		0.692	TNFRSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFRSF18	HGNC	protein_coding	OTTHUMT00000004083.2	C	NM_004195		1139439	-1	no_errors	ENST00000379268	ensembl	human	known	70_37	silent	SNP	0.940	T
TNFRSF14	8764	genome.wustl.edu	37	1	2493276	2493276	+	Intron	SNP	C	C	T	rs373158656		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:2493276C>T	ENST00000355716.4	+	6	993					NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14						cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell migration (GO:2000406)|T cell costimulation (GO:0031295)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GCGGCCCCATCAGGGCTCATG	0.597			"""Mis, N, F"""		follicular lymphoma																																			Rec	yes		1	1p36.32	8764	"""tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"""		L	0													85.0	84.0	85.0					1																	2493276		2203	4300	6503	SO:0001627	intron_variant	8764			U70321	CCDS44046.1	1p36.32	2012-02-27	2011-08-11		ENSG00000157873	ENSG00000157873		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11912	protein-coding gene	gene with protein product	"""herpesvirus entry mediator"""	602746	"""tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"""			8898196, 9162061	Standard	XM_006711018		Approved	HVEM, ATAR, TR2, LIGHTR, HVEA, CD270	uc001ajt.1	Q92956	OTTHUMG00000000792	ENST00000355716.4:c.694+22C>T	1.37:g.2493276C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65	RNA	SNP	-	NULL	ENST00000355716.4	37	NULL	CCDS44046.1	1																																																																																			TNFRSF14	-	-		0.597	TNFRSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF14	HGNC	protein_coding	OTTHUMT00000002088.1	C			2493276	+1	no_errors	ENST00000480305	ensembl	human	known	70_37	rna	SNP	0.000	T
TNFRSF1A	7132	genome.wustl.edu	37	12	6440011	6440011	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:6440011C>T	ENST00000162749.2	-	6	925				TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Intron	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CAGGTCACTTCTCCTCACCTG	0.577																																																	0													96.0	79.0	85.0					12																	6440011		2203	4300	6503	SO:0001627	intron_variant	7132			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.625+7G>A	12.37:g.6440011C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	RNA	SNP	-	NULL	ENST00000162749.2	37	NULL	CCDS8542.1	12																																																																																			TNFRSF1A	-	-		0.577	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1A	HGNC	protein_coding	OTTHUMT00000399038.1	C	NM_001065		6440011	-1	no_errors	ENST00000535038	ensembl	human	putative	70_37	rna	SNP	0.001	T
TNIK	23043	genome.wustl.edu	37	3	170928992	170928992	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:170928992C>T	ENST00000436636.2	-	4	563	c.219G>A	c.(217-219)ttG>ttA	p.L73L	TNIK_ENST00000475336.1_Silent_p.L73L|TNIK_ENST00000369326.5_Silent_p.L73L|TNIK_ENST00000284483.8_Silent_p.L73L|TNIK_ENST00000357327.5_Silent_p.L73L|TNIK_ENST00000488470.1_Silent_p.L73L|TNIK_ENST00000470834.1_Silent_p.L73L|TNIK_ENST00000538048.1_Silent_p.L73L|TNIK_ENST00000341852.6_Silent_p.L73L|TNIK_ENST00000460047.1_Silent_p.L73L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AATATTTCTTCAACATGTTAA	0.353																																																	0													138.0	132.0	134.0					3																	170928992		1820	4083	5903	SO:0001819	synonymous_variant	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.219G>A	3.37:g.170928992C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L73	ENST00000436636.2	37	c.219	CCDS46956.1	3																																																																																			TNIK	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.353	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	C	XM_039796		170928992	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	silent	SNP	1.000	T
TNKS1BP1	85456	genome.wustl.edu	37	11	57080766	57080766	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:57080766C>T	ENST00000532437.1	-	4	1707	c.1396G>A	c.(1396-1398)Gca>Aca	p.A466T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A466T|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	466	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TTGGACTCTGCCCCAAAGGGA	0.677																																																	0													25.0	25.0	25.0					11																	57080766		2188	4261	6449	SO:0001583	missense	85456			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.1396G>A	11.37:g.57080766C>T	ENSP00000437271:p.Ala466Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	NULL	p.A466T	ENST00000532437.1	37	c.1396	CCDS7951.1	11	.	.	.	.	.	.	.	.	.	.	C	9.475	1.096760	0.20552	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.25414	1.8;1.8	4.01	0.272	0.15645	.	1.960470	0.03432	N	0.208012	T	0.12774	0.0310	N	0.08118	0	0.20489	N	0.999891	B	0.02656	0.0	B	0.01281	0.0	T	0.18461	-1.0336	10	0.32370	T	0.25	.	2.9374	0.05819	0.1403:0.0921:0.1439:0.6237	.	466	Q9C0C2	TB182_HUMAN	T	466	ENSP00000350990:A466T;ENSP00000437271:A466T	ENSP00000350990:A466T	A	-	1	0	TNKS1BP1	56837342	0.009000	0.17119	0.646000	0.29493	0.269000	0.26545	-0.038000	0.12144	-0.126000	0.11682	-1.214000	0.01621	GCA	TNKS1BP1	-	NULL		0.677	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	C	NM_033396		57080766	-1	no_errors	ENST00000358252	ensembl	human	known	70_37	missense	SNP	0.911	T
TNKS2	80351	genome.wustl.edu	37	10	93611064	93611064	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:93611064G>A	ENST00000371627.4	+	21	3165	c.2786G>A	c.(2785-2787)gGa>gAa	p.G929E		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	929	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CTAATTAAAGGAGTCGAGAGA	0.373																																																	0													126.0	129.0	128.0					10																	93611064		2203	4300	6503	SO:0001583	missense	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2786G>A	10.37:g.93611064G>A	ENSP00000360689:p.Gly929Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.G929E	ENST00000371627.4	37	c.2786	CCDS7417.1	10	.	.	.	.	.	.	.	.	.	.	G	31	5.087472	0.94100	.	.	ENSG00000107854	ENST00000371627	D	0.83914	-1.78	5.31	5.31	0.75309	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.56097	D	0.000027	D	0.88507	0.6455	M	0.76838	2.35	0.80722	D	1	P	0.45634	0.863	P	0.49953	0.627	D	0.89721	0.3919	10	0.72032	D	0.01	.	19.3421	0.94347	0.0:0.0:1.0:0.0	.	929	Q9H2K2	TNKS2_HUMAN	E	929	ENSP00000360689:G929E	ENSP00000360689:G929E	G	+	2	0	TNKS2	93601044	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.813000	0.99286	2.642000	0.89623	0.650000	0.86243	GGA	TNKS2	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.373	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1	G	NM_025235		93611064	+1	no_errors	ENST00000371627	ensembl	human	known	70_37	missense	SNP	1.000	A
TNP2	7142	genome.wustl.edu	37	16	11362926	11362926	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:11362926G>C	ENST00000312693.3	-	1	263	c.194C>G	c.(193-195)tCa>tGa	p.S65*	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	65					acrosome reaction (GO:0007340)|binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						GTGGCCGGATGAGCTGTGGGC	0.622																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											140.0	155.0	150.0					16																	11362926		2079	4218	6297	SO:0001587	stop_gained	7142				CCDS45410.1	16p13.13	2008-08-01				ENSG00000178279			11952	protein-coding gene	gene with protein product		190232				1395729, 2250010	Standard	NM_005425		Approved	TP2	uc002das.3	Q05952		ENST00000312693.3:c.194C>G	16.37:g.11362926G>C	ENSP00000325738:p.Ser65*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NZB0	Nonsense_Mutation	SNP	pfam_TP2	p.S65*	ENST00000312693.3	37	c.194	CCDS45410.1	16	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938157	0.52972	.	.	ENSG00000178279	ENST00000312693	.	.	.	3.2	2.2	0.27929	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	4.7067	0.12853	0.1985:0.0:0.8015:0.0	.	.	.	.	X	65	.	ENSP00000325738:S65X	S	-	2	0	TNP2	11270427	0.000000	0.05858	0.044000	0.18714	0.025000	0.11179	0.193000	0.17116	0.840000	0.34995	0.555000	0.69702	TCA	TNP2	-	pfam_TP2		0.622	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNP2	HGNC	protein_coding	OTTHUMT00000417806.1	G	NM_005425		11362926	-1	no_errors	ENST00000312693	ensembl	human	known	70_37	nonsense	SNP	0.052	C
TNRC18	84629	genome.wustl.edu	37	7	5372257	5372257	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:5372257C>T	ENST00000430969.1	-	19	6491	c.6143G>A	c.(6142-6144)aGg>aAg	p.R2048K	TNRC18_ENST00000399537.4_Missense_Mutation_p.R2048K	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2048							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCCTACCTTCCTGGGGTCCTT	0.731																																																	0													5.0	6.0	6.0					7																	5372257		1420	3310	4730	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.6143G>A	7.37:g.5372257C>T	ENSP00000395538:p.Arg2048Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.R2048K	ENST00000430969.1	37	c.6143	CCDS47534.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.33|15.33	2.802384|2.802384	0.50315|0.50315	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000455076|ENST00000399537;ENST00000430969;ENST00000399544	.|T;T	.|0.11385	.|2.78;2.78	4.2|4.2	3.05|3.05	0.35203|0.35203	.|.	.|.	.|.	.|.	.|.	T|T	0.07593|0.07593	0.0191|0.0191	L|L	0.36672|0.36672	1.1|1.1	0.21020|0.21020	N|N	0.999804|0.999804	.|B	.|0.26147	.|0.143	.|B	.|0.22386	.|0.039	T|T	0.32402|0.32402	-0.9908|-0.9908	5|9	.|0.02654	.|T	.|1	.|.	10.8178|10.8178	0.46587|0.46587	0.0:0.884:0.0:0.116|0.0:0.884:0.0:0.116	.|.	.|2048	.|O15417	.|TNC18_HUMAN	R|K	85|2048;2048;1103	.|ENSP00000382452:R2048K;ENSP00000395538:R2048K	.|ENSP00000382452:R2048K	G|R	-|-	1|2	0|0	TNRC18|TNRC18	5338783|5338783	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	0.834000|0.834000	0.27518|0.27518	1.864000|1.864000	0.54056|0.54056	0.484000|0.484000	0.47621|0.47621	GGA|AGG	TNRC18	-	NULL		0.731	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		C			5372257	-1	no_errors	ENST00000399537	ensembl	human	known	70_37	missense	SNP	1.000	T
TNPO3	23534	genome.wustl.edu	37	7	128641126	128641126	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:128641126C>T	ENST00000265388.5	-	6	1002	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	TNPO3_ENST00000471166.1_Missense_Mutation_p.E287K|TNPO3_ENST00000471234.1_Missense_Mutation_p.E287K|TNPO3_ENST00000482320.1_Missense_Mutation_p.E221K|TNPO3_ENST00000393245.1_Missense_Mutation_p.E287K			Q9Y5L0	TNPO3_HUMAN	transportin 3	287					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TCTAAATCTTCACGTGCCACG	0.418																																					Pancreas(147;583 2585 39696 52331)												0													143.0	125.0	131.0					7																	128641126		2203	4300	6503	SO:0001583	missense	23534			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.859G>A	7.37:g.128641126C>T	ENSP00000265388:p.Glu287Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.E287K	ENST00000265388.5	37	c.859	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.678011	0.96764	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.77	5.77	0.91146	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	L	0.38175	1.15	0.80722	D	1	D;D;D	0.89917	0.973;1.0;0.995	P;D;P	0.91635	0.845;0.999;0.863	T	0.16364	-1.0405	10	0.20046	T	0.44	.	17.8363	0.88699	0.0:1.0:0.0:0.0	.	287;287;287	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	K	287;287;221;287;287	ENSP00000376936:E287K;ENSP00000265388:E287K;ENSP00000420089:E221K;ENSP00000418646:E287K;ENSP00000418267:E287K	ENSP00000265388:E287K	E	-	1	0	TNPO3	128428362	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.717000	0.84732	2.890000	0.99128	0.650000	0.86243	GAA	TNPO3	-	superfamily_ARM-type_fold		0.418	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	C	NM_012470		128641126	-1	no_errors	ENST00000393245	ensembl	human	known	70_37	missense	SNP	1.000	T
TNS1	7145	genome.wustl.edu	37	2	218674679	218674679	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:218674679C>G	ENST00000171887.4	-	30	5280	c.4828G>C	c.(4828-4830)Gag>Cag	p.E1610Q	TNS1_ENST00000430930.1_Missense_Mutation_p.E1589Q|TNS1_ENST00000419504.1_Missense_Mutation_p.E1596Q	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1610					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GTGAGTGACTCCATGTCCACA	0.562																																																	0													76.0	73.0	74.0					2																	218674679		2203	4300	6503	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4828G>C	2.37:g.218674679C>G	ENSP00000171887:p.Glu1610Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.E1610Q	ENST00000171887.4	37	c.4828	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	c	27.5	4.840323	0.91117	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	4.44	4.44	0.53790	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	M	0.89840	3.065	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.75020	0.971;0.95;0.985	T	0.76583	-0.2906	10	0.87932	D	0	.	17.2717	0.87104	0.0:1.0:0.0:0.0	.	1610;1589;1596	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	Q	1610;748;1596;1589	ENSP00000171887:E1610Q;ENSP00000394171:E748Q;ENSP00000408724:E1596Q;ENSP00000406016:E1589Q	ENSP00000171887:E1610Q	E	-	1	0	TNS1	218382924	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.574000	0.82434	2.305000	0.77605	0.443000	0.29094	GAG	TNS1	-	pfam_PTB,smart_PTyr_interaction_dom		0.562	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	C	NM_022648		218674679	-1	no_errors	ENST00000171887	ensembl	human	known	70_37	missense	SNP	1.000	G
TOLLIP	54472	genome.wustl.edu	37	11	1298482	1298482	+	Splice_Site	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:1298482C>T	ENST00000317204.6	-	6	735	c.612G>A	c.(610-612)ggG>ggA	p.G204G	TOLLIP_ENST00000527938.1_Splice_Site_p.G62E|TOLLIP_ENST00000525159.1_Splice_Site_p.G143G|TOLLIP_ENST00000263646.7_Splice_Site_p.G176G|TOLLIP_ENST00000542915.1_Splice_Site_p.G154G|TOLLIP_ENST00000527886.1_Splice_Site_p.G135G	NM_019009.3	NP_061882.2	Q9H0E2	TOLIP_HUMAN	toll interacting protein	204					autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte activation (GO:0045321)|phosphorylation (GO:0016310)|positive regulation of protein sumoylation (GO:0033235)|protein localization to endosome (GO:0036010)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|interleukin-1 receptor complex (GO:0045323)|interleukin-18 receptor complex (GO:0045092)|nuclear body (GO:0016604)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|signal transducer activity (GO:0004871)|Toll-like receptor binding (GO:0035325)			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		CAGCGGGCATCCCTGGAAGCA	0.612																																																	0													28.0	29.0	29.0					11																	1298482		2201	4299	6500	SO:0001630	splice_region_variant	54472			AJ242972	CCDS7723.1	11p	2008-02-05			ENSG00000078902	ENSG00000078902			16476	protein-coding gene	gene with protein product		606277				9426216, 10854325	Standard	NM_019009		Approved	IL-1RAcPIP	uc001lte.3	Q9H0E2	OTTHUMG00000133333	ENST00000317204.6:c.611-1G>A	11.37:g.1298482C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXC6|Q9H9E6|Q9UJ69	Missense_Mutation	SNP	NULL	p.G62E	ENST00000317204.6	37	c.185	CCDS7723.1	11	.	.	.	.	.	.	.	.	.	.	C	7.661	0.684963	0.14973	.	.	ENSG00000078902	ENST00000527938	.	.	.	4.25	-7.71	0.01254	.	0.059078	0.64402	D	0.000002	T	0.52158	0.1717	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58194	-0.7679	6	0.87932	D	0	.	4.2733	0.10797	0.1749:0.1945:0.0824:0.5481	.	.	.	.	E	62	.	ENSP00000432778:G62E	G	-	2	0	TOLLIP	1255058	0.000000	0.05858	0.799000	0.32177	0.127000	0.20565	-3.306000	0.00518	-1.248000	0.02503	-0.300000	0.09419	GGA	TOLLIP	-	NULL		0.612	TOLLIP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TOLLIP	HGNC	protein_coding	OTTHUMT00000257162.2	C	NM_019009	Silent	1298482	-1	no_errors	ENST00000527938	ensembl	human	putative	70_37	missense	SNP	0.058	T
TOMM40L	84134	genome.wustl.edu	37	1	161199825	161199825	+	3'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:161199825C>G	ENST00000367988.3	+	0	2136				NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000367980.2_Intron|NR1I3_ENST00000515621.1_Intron|MIR5187_ENST00000583479.1_RNA|NR1I3_ENST00000367979.2_Intron|TOMM40L_ENST00000367987.1_3'UTR|NR1I3_ENST00000367983.4_Intron|NR1I3_ENST00000479324.1_Intron|NR1I3_ENST00000367982.4_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000367985.3_Intron|NR1I3_ENST00000367984.4_Intron|NR1I3_ENST00000428574.2_Intron|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000505005.1_Intron|TOMM40L_ENST00000474486.1_3'UTR|NR1I3_ENST00000442691.2_Intron	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like						ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GAAGCCAGGTCTGAACATTAG	0.507																																																	0																																										SO:0001624	3_prime_UTR_variant	84134				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.*940C>G	1.37:g.161199825C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4U0|D3DVG9	RNA	SNP	-	NULL	ENST00000367988.3	37	NULL	CCDS1227.1	1																																																																																			TOMM40L	-	-		0.507	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM40L	HGNC	protein_coding	OTTHUMT00000083029.1	C	NM_032174		161199825	+1	no_errors	ENST00000474486	ensembl	human	known	70_37	rna	SNP	0.039	G
TOP2A	7153	genome.wustl.edu	37	17	38547881	38547881	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:38547881C>G	ENST00000423485.1	-	33	4302	c.4144G>C	c.(4144-4146)Gat>Cat	p.D1382H	Y_RNA_ENST00000410949.1_RNA	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1382					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTAACATCATCAGCTTCAAGG	0.373																																																	0													95.0	83.0	87.0					17																	38547881		1868	4119	5987	SO:0001583	missense	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.4144G>C	17.37:g.38547881C>G	ENSP00000411532:p.Asp1382His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo	p.D1382H	ENST00000423485.1	37	c.4144	CCDS45672.1	17	.	.	.	.	.	.	.	.	.	.	c	9.377	1.071924	0.20147	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.24151	1.87	5.27	2.11	0.27256	.	1.600280	0.03230	N	0.178790	T	0.20129	0.0484	N	0.22421	0.69	0.09310	N	1	B	0.33379	0.41	B	0.32465	0.146	T	0.28170	-1.0052	10	0.62326	D	0.03	.	6.9757	0.24674	0.0:0.7024:0.0:0.2976	.	1382	P11388	TOP2A_HUMAN	H	1382;1462;1405;1419	ENSP00000411532:D1382H	ENSP00000269577:D1462H	D	-	1	0	TOP2A	35801407	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.430000	0.21428	0.324000	0.23333	-1.112000	0.02068	GAT	TOP2A	-	NULL		0.373	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	C			38547881	-1	no_errors	ENST00000423485	ensembl	human	known	70_37	missense	SNP	0.003	G
TOP2B	7155	genome.wustl.edu	37	3	25683865	25683865	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:25683865C>G	ENST00000264331.4	-	4	342	c.343G>C	c.(343-345)Gac>Cac	p.D115H	TOP2B_ENST00000435706.2_Missense_Mutation_p.D110H	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	115					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	TGTTTATTGTCAGCAGCATTA	0.259																																																	0													33.0	31.0	32.0					3																	25683865		1738	3977	5715	SO:0001583	missense	7155			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.343G>C	3.37:g.25683865C>G	ENSP00000264331:p.Asp115His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo	p.D115H	ENST00000264331.4	37	c.343		3	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849007	0.91277	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T;T	0.58358	0.34;0.34;0.34	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.85243	0.5652	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90499	0.4472	10	0.87932	D	0	-1.9092	20.3606	0.98856	0.0:1.0:0.0:0.0	.	110	Q02880-2	.	H	110;115;110	ENSP00000396704:D110H;ENSP00000264331:D115H;ENSP00000391112:D110H	ENSP00000264331:D115H	D	-	1	0	TOP2B	25658869	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.625000	0.83145	2.817000	0.96982	0.557000	0.71058	GAC	TOP2B	-	pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_Topo_IIA,prints_Topo_IIA		0.259	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding		C			25683865	-1	no_errors	ENST00000264331	ensembl	human	known	70_37	missense	SNP	1.000	G
TOPAZ1	375337	genome.wustl.edu	37	3	44332376	44332376	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:44332376G>C	ENST00000309765.4	+	12	3963	c.3795G>C	c.(3793-3795)tcG>tcC	p.S1265S		NM_001145030.1	NP_001138502.1	Q8N9V7	TOPZ1_HUMAN	testis and ovary specific PAZ domain containing 1	1265						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)										AAATGAAATCGAGGTGAGAAA	0.358																																																	0													50.0	43.0	45.0					3																	44332376		692	1591	2283	SO:0001819	synonymous_variant	375337			AK093476	CCDS46809.1	3p21.33	2012-10-08	2012-10-08	2012-10-08	ENSG00000173769	ENSG00000173769			24746	protein-coding gene	gene with protein product		614412	"""chromosome 3 open reading frame 77"""	C3orf77		22069478	Standard	NM_001145030		Approved	FLJ36157	uc003cna.4	Q8N9V7	OTTHUMG00000156172	ENST00000309765.4:c.3795G>C	3.37:g.44332376G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.S1265	ENST00000309765.4	37	c.3795	CCDS46809.1	3																																																																																			TOPAZ1	-	NULL		0.358	TOPAZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPAZ1	HGNC	protein_coding	OTTHUMT00000343247.1	G	NM_001145030		44332376	+1	no_errors	ENST00000309765	ensembl	human	known	70_37	silent	SNP	0.998	C
TOPBP1	11073	genome.wustl.edu	37	3	133374143	133374143	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:133374143C>T	ENST00000260810.5	-	6	864	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	245	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CCTTTTGGTTCTTGCACAATG	0.308								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0													148.0	131.0	137.0					3																	133374143		1846	4096	5942	SO:0001583	missense	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.733G>A	3.37:g.133374143C>T	ENSP00000260810:p.Glu245Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.E245K	ENST00000260810.5	37	c.733	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676404	0.88445	.	.	ENSG00000163781	ENST00000260810	T	0.57436	0.4	4.4	4.4	0.53042	BRCT (4);	0.111700	0.64402	D	0.000017	T	0.55529	0.1926	N	0.20610	0.595	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.50808	-0.8784	10	0.15952	T	0.53	.	17.3524	0.87327	0.0:1.0:0.0:0.0	.	245	Q92547	TOPB1_HUMAN	K	245	ENSP00000260810:E245K	ENSP00000260810:E245K	E	-	1	0	TOPBP1	134856833	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.007000	0.70731	2.149000	0.67028	0.655000	0.94253	GAA	TOPBP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.308	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	C	NM_007027		133374143	-1	no_errors	ENST00000260810	ensembl	human	known	70_37	missense	SNP	1.000	T
TOR1B	27348	genome.wustl.edu	37	9	132566622	132566622	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:132566622G>C	ENST00000259339.2	+	2	525				TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)						ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				TACCAGGCAAGAGAACCCGCT	0.493																																																	0													91.0	94.0	93.0					9																	132566622		2203	4300	6503	SO:0001627	intron_variant	27348			AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.465+5G>C	9.37:g.132566622G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000259339.2	37	NULL	CCDS6929.1	9																																																																																			TOR1B	-	-		0.493	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1B	HGNC	protein_coding	OTTHUMT00000054615.1	G	NM_014506		132566622	+1	no_errors	ENST00000486372	ensembl	human	known	70_37	rna	SNP	0.998	C
TP53INP2	58476	genome.wustl.edu	37	20	33297290	33297290	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:33297290C>G	ENST00000374810.3	+	4	764	c.375C>G	c.(373-375)ctC>ctG	p.L125L	NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Silent_p.L125L	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	125					autophagic vacuole assembly (GO:0000045)|osteoblast differentiation (GO:0001649)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(1)|urinary_tract(1)	2						CTTCCCCGCTCCCGGACGCGG	0.697																																																	0													21.0	21.0	21.0					20																	33297290		2189	4287	6476	SO:0001819	synonymous_variant	58476			AL109824	CCDS13240.1	20q11.22	2010-01-05	2004-06-18	2004-06-18	ENSG00000078804	ENSG00000078804			16104	protein-coding gene	gene with protein product	"""diabetes and obesity regulated"""		"""chromosome 20 open reading frame 110"""	C20orf110		12477932	Standard	NM_021202		Approved	FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827, dJ1181N3.1, PINH, DOR	uc002xau.1	Q8IXH6	OTTHUMG00000032310	ENST00000374810.3:c.375C>G	20.37:g.33297290C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8S8|E1P5P6|Q5JX64|Q8IYL5|Q9NU00	Silent	SNP	NULL	p.L125	ENST00000374810.3	37	c.375	CCDS13240.1	20																																																																																			TP53INP2	-	NULL		0.697	TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53INP2	HGNC	protein_coding	OTTHUMT00000078807.2	C	NM_021202		33297290	+1	no_errors	ENST00000374809	ensembl	human	known	70_37	silent	SNP	0.678	G
TP53TG5	27296	genome.wustl.edu	37	20	44002607	44002607	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:44002607C>G	ENST00000372726.3	-	5	969	c.813G>C	c.(811-813)tgG>tgC	p.W271C	TP53TG5_ENST00000494455.1_5'Flank|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.W255C|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000426004.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	271					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						GGCGCGATCTCCACCCTCTGC	0.552											OREG0025981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													161.0	132.0	142.0					20																	44002607		2203	4300	6503	SO:0001583	missense	27296			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.813G>C	20.37:g.44002607C>G	ENSP00000361811:p.Trp271Cys	Somatic	920	WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.W271C	ENST00000372726.3	37	c.813	CCDS13352.1	20	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184907	0.38609	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.10192	2.9;2.9	4.37	1.23	0.21249	.	1.820450	0.03335	N	0.194009	T	0.08447	0.0210	N	0.22421	0.69	0.09310	N	1	B	0.14805	0.011	B	0.15052	0.012	T	0.37009	-0.9724	10	0.87932	D	0	1.4998	3.0047	0.06025	0.1832:0.541:0.1775:0.0983	.	271	Q9Y2B4	T53G5_HUMAN	C	271;255	ENSP00000361811:W271C;ENSP00000438374:W255C	ENSP00000361811:W271C	W	-	3	0	TP53TG5	43436021	0.001000	0.12720	0.003000	0.11579	0.100000	0.18952	0.455000	0.21843	0.314000	0.23086	0.655000	0.94253	TGG	TP53TG5	-	NULL		0.552	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53TG5	HGNC	protein_coding	OTTHUMT00000079460.1	C	NM_014477		44002607	-1	no_errors	ENST00000372726	ensembl	human	known	70_37	missense	SNP	0.004	G
TP53TG5	27296	genome.wustl.edu	37	20	44002619	44002619	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:44002619C>G	ENST00000372726.3	-	5	957	c.801G>C	c.(799-801)gcG>gcC	p.A267A	TP53TG5_ENST00000494455.1_5'Flank|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000537995.1_Silent_p.A251A|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000426004.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	267					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						ACCCTCTGCTCGCACCTCTGG	0.567											OREG0025981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													145.0	119.0	128.0					20																	44002619		2203	4300	6503	SO:0001819	synonymous_variant	27296			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.801G>C	20.37:g.44002619C>G		Somatic	920	WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.A267	ENST00000372726.3	37	c.801	CCDS13352.1	20																																																																																			TP53TG5	-	NULL		0.567	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53TG5	HGNC	protein_coding	OTTHUMT00000079460.1	C	NM_014477		44002619	-1	no_errors	ENST00000372726	ensembl	human	known	70_37	silent	SNP	0.000	G
TP63	8626	genome.wustl.edu	37	3	189586483	189586483	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:189586483G>C	ENST00000264731.3	+	8	1196	c.1107G>C	c.(1105-1107)aaG>aaC	p.K369N	TP63_ENST00000354600.5_Missense_Mutation_p.K275N|TP63_ENST00000449992.1_Missense_Mutation_p.K190N|TP63_ENST00000382063.4_Missense_Mutation_p.K284N|TP63_ENST00000456148.1_Missense_Mutation_p.K275N|TP63_ENST00000320472.5_Missense_Mutation_p.K369N|TP63_ENST00000437221.1_Missense_Mutation_p.K275N|TP63_ENST00000418709.2_Missense_Mutation_p.K369N|TP63_ENST00000392461.3_Missense_Mutation_p.K275N|TP63_ENST00000392463.2_Missense_Mutation_p.K275N|TP63_ENST00000440651.2_Missense_Mutation_p.K369N|TP63_ENST00000392460.3_Missense_Mutation_p.K369N	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	369	Interaction with HIPK2.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.K369N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACAGTACAAAGAACGGTGATG	0.517										HNSCC(45;0.13)																																							1	Substitution - Missense(1)	kidney(1)											133.0	125.0	128.0					3																	189586483		2203	4300	6503	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1107G>C	3.37:g.189586483G>C	ENSP00000264731:p.Lys369Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.K369N	ENST00000264731.3	37	c.1107	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249808	0.80024	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99737	-6.3;-6.56;-6.56;-6.56;-6.42;-6.58;-6.27;-6.5;-6.52;-6.52;-6.59;-6.37	6.03	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.99515	0.9827	L	0.57536	1.79	0.80722	D	1	D;D;D;P;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.588;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;B;D;D;D;D;D;D	0.97110	0.995;1.0;1.0;0.318;1.0;1.0;0.999;0.995;0.999;1.0	D	0.98567	1.0644	9	.	.	.	-14.4714	14.6053	0.68475	0.0696:0.0:0.9304:0.0	.	190;369;369;275;275;275;275;369;369;369	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	N	369;369;369;369;369;284;275;275;275;275;190;275	ENSP00000264731:K369N;ENSP00000407144:K369N;ENSP00000317510:K369N;ENSP00000376253:K369N;ENSP00000394337:K369N;ENSP00000371495:K284N;ENSP00000346614:K275N;ENSP00000392488:K275N;ENSP00000376256:K275N;ENSP00000376254:K275N;ENSP00000387839:K190N;ENSP00000389485:K275N	.	K	+	3	2	TP63	191069177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.256000	0.72473	1.552000	0.49463	0.655000	0.94253	AAG	TP63	-	NULL		0.517	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	G	NM_003722		189586483	+1	no_errors	ENST00000264731	ensembl	human	known	70_37	missense	SNP	1.000	C
TPD52L3	89882	genome.wustl.edu	37	9	6328703	6328703	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:6328703C>G	ENST00000344545.5	+	1	355	c.108C>G	c.(106-108)ctC>ctG	p.L36L	TPD52L3_ENST00000314556.3_Silent_p.L36L|TPD52L3_ENST00000381428.1_Silent_p.L36L	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	36										large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		AAACCAAACTCACTAAATTGG	0.517																																																	0													95.0	90.0	92.0					9																	6328703		2203	4300	6503	SO:0001819	synonymous_variant	89882			AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.108C>G	9.37:g.6328703C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Silent	SNP	pfam_TPD52	p.L36	ENST00000344545.5	37	c.108	CCDS34986.1	9																																																																																			TPD52L3	-	pfam_TPD52		0.517	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPD52L3	HGNC	protein_coding	OTTHUMT00000051658.1	C	NM_033516		6328703	+1	no_errors	ENST00000344545	ensembl	human	known	70_37	silent	SNP	0.001	G
TPM3	7170	genome.wustl.edu	37	1	154145294	154145294	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:154145294G>A	ENST00000368530.2	-	5	759				TPM3_ENST00000271850.7_Intron|TPM3_ENST00000302206.5_Intron|TPM3_ENST00000323144.7_Intron|TPM3_ENST00000341372.3_Intron|TPM3_ENST00000328159.4_Intron|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000368531.2_Intron|TPM3_ENST00000368533.3_Intron|TPM3_ENST00000341485.5_Intron|TPM3_ENST00000330188.9_Intron	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TAACAAGGTTGAAGGAATGCT	0.428			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																			Dom	yes		1	1q22-q23	7170	tropomyosin 3		"""E, L"""	0																																										SO:0001627	intron_variant	7170			BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.566+89C>T	1.37:g.154145294G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	RNA	SNP	-	NULL	ENST00000368530.2	37	NULL	CCDS41403.1	1																																																																																			TPM3	-	-		0.428	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM3	HGNC	protein_coding	OTTHUMT00000087271.2	G	NM_152263		154145294	-1	no_errors	ENST00000469717	ensembl	human	known	70_37	rna	SNP	0.073	A
TPST1	8460	genome.wustl.edu	37	7	65821815	65821815	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:65821815G>A	ENST00000304842.5	+	5	1524	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	367					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCAACAGACTGAGCAAGTGGA	0.527																																																	0													93.0	88.0	90.0					7																	65821815		2203	4300	6503	SO:0001583	missense	8460			AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.1099G>A	7.37:g.65821815G>A	ENSP00000302413:p.Glu367Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2M0|Q6FGM7	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.E367K	ENST00000304842.5	37	c.1099	CCDS5533.1	7	.	.	.	.	.	.	.	.	.	.	G	7.809	0.715338	0.15306	.	.	ENSG00000169902	ENST00000304842	.	.	.	5.02	3.16	0.36331	.	0.468130	0.22147	N	0.063963	T	0.09818	0.0241	N	0.01048	-1.04	0.27245	N	0.959033	B	0.02656	0.0	B	0.01281	0.0	T	0.32693	-0.9897	9	0.06494	T	0.89	-1.4139	7.0575	0.25107	0.0929:0.173:0.734:0.0	.	367	O60507	TPST1_HUMAN	K	367	.	ENSP00000302413:E367K	E	+	1	0	TPST1	65459250	1.000000	0.71417	0.994000	0.49952	0.875000	0.50365	3.375000	0.52410	0.786000	0.33708	-0.150000	0.13652	GAG	TPST1	-	NULL		0.527	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST1	HGNC	protein_coding	OTTHUMT00000251705.2	G	NM_003596		65821815	+1	no_errors	ENST00000304842	ensembl	human	known	70_37	missense	SNP	0.980	A
TRAF3	7187	genome.wustl.edu	37	14	103336564	103336564	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:103336564C>T	ENST00000560371.1	+	2	243	c.26C>T	c.(25-27)tCt>tTt	p.S9F	TRAF3_ENST00000392745.2_Missense_Mutation_p.S9F|TRAF3_ENST00000539721.1_Missense_Mutation_p.S9F|TRAF3_ENST00000347662.4_Missense_Mutation_p.S9F|TRAF3_ENST00000351691.5_Missense_Mutation_p.S9F	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	9					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AAGATGGACTCTCCTGGCGCG	0.493																																																	0													66.0	69.0	68.0					14																	103336564		2203	4300	6503	SO:0001583	missense	7187			U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.26C>T	14.37:g.103336564C>T	ENSP00000454207:p.Ser9Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.S9F	ENST00000560371.1	37	c.26	CCDS9975.1	14	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908536	0.33721	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	T;T;T;T	0.45668	2.21;2.21;2.21;0.89	5.2	5.2	0.72013	.	2.312790	0.01520	N	0.018309	T	0.33089	0.0851	N	0.08118	0	0.32969	D	0.522112	B;P;B	0.34462	0.25;0.454;0.138	B;B;B	0.27887	0.063;0.084;0.037	T	0.47509	-0.9112	10	0.59425	D	0.04	-2.1645	18.7386	0.91765	0.0:1.0:0.0:0.0	.	9;9;9	Q13114-2;A6NHG8;Q13114	.;.;TRAF3_HUMAN	F	9	ENSP00000376500:S9F;ENSP00000328003:S9F;ENSP00000332468:S9F;ENSP00000445998:S9F	ENSP00000328003:S9F	S	+	2	0	TRAF3	102406317	0.081000	0.21417	0.102000	0.21198	0.019000	0.09904	4.046000	0.57376	2.432000	0.82394	0.655000	0.94253	TCT	TRAF3	-	pirsf_TNF_rcpt--assoc_TRAF		0.493	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF3	HGNC	protein_coding	OTTHUMT00000415735.1	C	NM_145725		103336564	+1	no_errors	ENST00000392745	ensembl	human	known	70_37	missense	SNP	0.958	T
TRAF3IP2	10758	genome.wustl.edu	37	6	111913016	111913016	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:111913016C>G	ENST00000340026.6	-	3	895	c.301G>C	c.(301-303)Gaa>Caa	p.E101Q	TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.E92Q|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.E92Q|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	101	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		AAACTGTCTTCACTGTCCTCC	0.567																																																	0													61.0	63.0	62.0					6																	111913016		2203	4300	6503	SO:0001583	missense	10758			AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.301G>C	6.37:g.111913016C>G	ENSP00000345984:p.Glu101Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	pfam_SEFIR	p.E101Q	ENST00000340026.6	37	c.301		6	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454313	0.84209	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.39406	1.1;1.09;1.08	5.91	5.91	0.95273	.	0.200735	0.43919	D	0.000518	T	0.51092	0.1654	M	0.66939	2.045	0.80722	D	1	D;D;D	0.59767	0.977;0.986;0.981	P;P;P	0.55455	0.601;0.776;0.69	T	0.51537	-0.8693	10	0.62326	D	0.03	-0.1419	18.4816	0.90813	0.0:1.0:0.0:0.0	.	101;92;92	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	Q	101;92;101;92	ENSP00000357750:E92Q;ENSP00000345984:E101Q;ENSP00000352889:E92Q	ENSP00000345984:E101Q	E	-	1	0	TRAF3IP2	112019709	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	5.038000	0.64177	2.809000	0.96659	0.555000	0.69702	GAA	TRAF3IP2	-	NULL		0.567	TRAF3IP2-001	KNOWN	basic	protein_coding	TRAF3IP2	HGNC	protein_coding	OTTHUMT00000041841.2	C			111913016	-1	no_errors	ENST00000340026	ensembl	human	known	70_37	missense	SNP	1.000	G
TRAF4	9618	genome.wustl.edu	37	17	27075394	27075394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:27075394C>T	ENST00000262395.5	+	5	706	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	AC010761.10_ENST00000579468.1_RNA|TRAF4_ENST00000262396.6_Intron|AC010761.9_ENST00000577325.1_RNA|TRAF4_ENST00000444415.3_Nonsense_Mutation_p.Q193*	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	193					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CAAGCGCACTCAGCCCTGCAC	0.592																																																	0													71.0	56.0	61.0					17																	27075394		2203	4300	6503	SO:0001587	stop_gained	9618			X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.577C>T	17.37:g.27075394C>T	ENSP00000262395:p.Gln193*	Somatic		WXS	Illumina HiSeq	Phase_IV	O75615|Q14848|Q2KJU4|Q2PJN8	Nonsense_Mutation	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.Q193*	ENST00000262395.5	37	c.577	CCDS11243.1	17	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594132	0.86953	.	.	ENSG00000076604	ENST00000262395;ENST00000444415	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	18.3177	0.90226	0.0:1.0:0.0:0.0	.	.	.	.	X	193	.	ENSP00000262395:Q193X	Q	+	1	0	TRAF4	24099521	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.167000	0.77562	2.668000	0.90789	0.561000	0.74099	CAG	TRAF4	-	superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF		0.592	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF4	HGNC	protein_coding	OTTHUMT00000255944.2	C	NM_145751		27075394	+1	no_errors	ENST00000262395	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TRANK1	9881	genome.wustl.edu	37	3	36899397	36899397	+	Missense_Mutation	SNP	G	G	A	rs370656520		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:36899397G>A	ENST00000429976.2	-	12	1931	c.1684C>T	c.(1684-1686)Cgc>Tgc	p.R562C	TRANK1_ENST00000428977.2_Missense_Mutation_p.R12C|TRANK1_ENST00000301807.6_Missense_Mutation_p.R12C	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	562							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCTTCACGCGCTTTAGCATG	0.493																																																	0								G	CYS/ARG	1,4005		0,1,2002	100.0	93.0	95.0		1684	4.7	0.9	3		95	1,8385		0,1,4192	no	missense	TRANK1	NM_014831.2	180	0,2,6194	AA,AG,GG		0.0119,0.025,0.0161	possibly-damaging	562/2926	36899397	2,12390	2003	4193	6196	SO:0001583	missense	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.1684C>T	3.37:g.36899397G>A	ENSP00000416168:p.Arg562Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.R562C	ENST00000429976.2	37	c.1684	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703369	0.48412	2.5E-4	1.19E-4	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.51574	1.75;0.7;1.75	5.6	4.71	0.59529	Ankyrin repeat-containing domain (3);	0.448050	0.19526	N	0.112143	T	0.50548	0.1622	L	0.55103	1.725	0.45791	D	0.998671	D	0.71674	0.998	P	0.47528	0.549	T	0.55724	-0.8096	10	0.66056	D	0.02	.	13.9921	0.64374	0.0:0.0:0.7254:0.2746	.	562	O15050	TRNK1_HUMAN	C	12;562;12	ENSP00000416826:R12C;ENSP00000416168:R562C;ENSP00000301807:R12C	ENSP00000301807:R12C	R	-	1	0	TRANK1	36874401	1.000000	0.71417	0.908000	0.35775	0.110000	0.19582	5.677000	0.68142	1.489000	0.48450	0.655000	0.94253	CGC	TRANK1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.493	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		G	NM_014831		36899397	-1	no_errors	ENST00000429976	ensembl	human	known	70_37	missense	SNP	0.979	A
TRAK1	22906	genome.wustl.edu	37	3	42128645	42128645	+	3'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:42128645C>G	ENST00000487159.1	+	0	366							Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1						endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CGGGGGCCATCTGCCCAACTG	0.592																																					GBM(44;195 884 22595 31865 41850)												0																																										SO:0001624	3_prime_UTR_variant	22906				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000487159.1:c.*363C>G	3.37:g.42128645C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	RNA	SNP	-	NULL	ENST00000487159.1	37	NULL		3																																																																																			TRAK1	-	-		0.592	TRAK1-006	KNOWN	basic	processed_transcript	TRAK1	HGNC	protein_coding	OTTHUMT00000343454.1	C	NM_014965		42128645	+1	no_errors	ENST00000487159	ensembl	human	known	70_37	rna	SNP	0.207	G
TRAPPC1	58485	genome.wustl.edu	37	17	7833972	7833972	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:7833972C>T	ENST00000303731.4	-	4	505	c.390G>A	c.(388-390)ctG>ctA	p.L130L	CNTROB_ENST00000380262.3_5'Flank|TRAPPC1_ENST00000540486.1_Silent_p.L130L|RP11-1099M24.7_ENST00000573621.1_5'Flank|KCNAB3_ENST00000303790.2_5'Flank|CNTROB_ENST00000565740.1_5'Flank|CNTROB_ENST00000380255.3_5'Flank|CNTROB_ENST00000563694.1_5'Flank	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	130					ER to Golgi vesicle-mediated transport (GO:0006888)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				breast(1)|lung(2)	3		Prostate(122;0.173)				CATAGGAGTCCAGTCGGGAGC	0.567																																																	0													110.0	80.0	90.0					17																	7833972		2203	4300	6503	SO:0001819	synonymous_variant	58485			AF129332	CCDS11125.1	17p13.1	2011-10-10			ENSG00000170043	ENSG00000170043		"""Trafficking protein particle complex"""	19894	protein-coding gene	gene with protein product		610969				10582700	Standard	NM_021210		Approved	MUM2, BET5	uc002gjo.2	Q9Y5R8	OTTHUMG00000108171	ENST00000303731.4:c.390G>A	17.37:g.7833972C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTR0	Silent	SNP	pfam_Sybindin,superfamily_Longin-like_dom	p.L130	ENST00000303731.4	37	c.390	CCDS11125.1	17																																																																																			TRAPPC1	-	pfam_Sybindin,superfamily_Longin-like_dom		0.567	TRAPPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC1	HGNC	protein_coding	OTTHUMT00000226975.2	C	NM_021210		7833972	-1	no_errors	ENST00000303731	ensembl	human	known	70_37	silent	SNP	0.996	T
TRAPPC11	60684	genome.wustl.edu	37	4	184585162	184585162	+	Nonsense_Mutation	SNP	C	C	T	rs150331292		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:184585162C>T	ENST00000334690.6	+	2	344	c.142C>T	c.(142-144)Cga>Tga	p.R48*	TRAPPC11_ENST00000357207.4_Nonsense_Mutation_p.R48*	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	48					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											GAGAGCTGATCGAGTACCAAT	0.488																																																	0								C	stop/ARG,stop/ARG	0,4406		0,0,2203	156.0	146.0	149.0		142,142	5.2	1.0	4	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	C4orf41	NM_021942.4,NM_199053.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	48/1134,48/1087	184585162	1,13005	2203	4300	6503	SO:0001587	stop_gained	60684				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.142C>T	4.37:g.184585162C>T	ENSP00000335371:p.Arg48*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Nonsense_Mutation	SNP	pfam_Foie-gras_1,pfam_DUF1683_C	p.R48*	ENST00000334690.6	37	c.142	CCDS34112.1	4	.	.	.	.	.	.	.	.	.	.	C	39	7.326622	0.98214	0.0	1.16E-4	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109	.	.	.	6.03	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8139	0.70017	0.2618:0.7382:0.0:0.0	.	.	.	.	X	48	.	ENSP00000335371:R48X	R	+	1	2	C4orf41	184822156	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.374000	0.44274	1.540000	0.49301	0.655000	0.94253	CGA	TRAPPC11	-	NULL		0.488	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	HGNC	protein_coding	OTTHUMT00000361654.2	C	NM_021942		184585162	+1	no_errors	ENST00000334690	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TRAPPC11	60684	genome.wustl.edu	37	4	184585175	184585175	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:184585175C>G	ENST00000334690.6	+	2	357	c.155C>G	c.(154-156)tCt>tGt	p.S52C	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S52C	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	52					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											GTACCAATTTCTTTCAAGGTG	0.468																																																	0													149.0	141.0	144.0					4																	184585175		2203	4300	6503	SO:0001583	missense	60684				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.155C>G	4.37:g.184585175C>G	ENSP00000335371:p.Ser52Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	pfam_Foie-gras_1,pfam_DUF1683_C	p.S52C	ENST00000334690.6	37	c.155	CCDS34112.1	4	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173091	0.78452	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	N	0.22421	0.69	0.80722	D	1	D;D	0.63046	0.985;0.992	P;P	0.56216	0.628;0.794	T	0.63143	-0.6703	9	0.59425	D	0.04	.	20.1617	0.98138	0.0:1.0:0.0:0.0	.	52;52	Q7Z392;Q7Z392-3	TPC11_HUMAN;.	C	52	.	ENSP00000335371:S52C	S	+	2	0	C4orf41	184822169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.516000	0.81772	2.854000	0.98071	0.655000	0.94253	TCT	TRAPPC11	-	NULL		0.468	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	HGNC	protein_coding	OTTHUMT00000361654.2	C	NM_021942		184585175	+1	no_errors	ENST00000334690	ensembl	human	known	70_37	missense	SNP	1.000	G
TRHDE	29953	genome.wustl.edu	37	12	72667020	72667020	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:72667020C>G	ENST00000261180.4	+	1	558	c.462C>G	c.(460-462)ctC>ctG	p.L154L	TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000435350.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	154					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATCTGATGCTCACCGCCTTCA	0.672																																																	0													57.0	56.0	56.0					12																	72667020		2202	4293	6495	SO:0001819	synonymous_variant	29953			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.462C>G	12.37:g.72667020C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PL19|Q6UWJ4	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.L154	ENST00000261180.4	37	c.462	CCDS9004.1	12																																																																																			TRHDE	-	pfam_Peptidase_M1_N		0.672	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	C	NM_013381		72667020	+1	no_errors	ENST00000261180	ensembl	human	known	70_37	silent	SNP	1.000	G
TRIB2	28951	genome.wustl.edu	37	2	12880670	12880670	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:12880670C>T	ENST00000155926.4	+	3	2201	c.782C>T	c.(781-783)tCc>tTc	p.S261F	TRIB2_ENST00000381465.2_Missense_Mutation_p.S125F	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAACCCAGCTCCCTCTTCAGC	0.597																																																	0													92.0	66.0	74.0					2																	12880670		2203	4300	6503	SO:0001583	missense	28951			AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.782C>T	2.37:g.12880670C>T	ENSP00000155926:p.Ser261Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S261F	ENST00000155926.4	37	c.782	CCDS1683.1	2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386465	0.82902	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.74526	-0.85;-0.85	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82499	0.5050	L	0.55213	1.73	0.80722	D	1	D	0.58620	0.983	P	0.58928	0.848	T	0.82744	-0.0306	10	0.66056	D	0.02	-26.9357	19.354	0.94404	0.0:1.0:0.0:0.0	.	261	Q92519	TRIB2_HUMAN	F	261;125	ENSP00000155926:S261F;ENSP00000370874:S125F	ENSP00000155926:S261F	S	+	2	0	TRIB2	12798121	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.820000	0.97059	0.650000	0.86243	TCC	TRIB2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.597	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB2	HGNC	protein_coding	OTTHUMT00000207114.2	C	NM_021643		12880670	+1	no_errors	ENST00000155926	ensembl	human	known	70_37	missense	SNP	1.000	T
TRIB3	57761	genome.wustl.edu	37	20	372012	372012	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:372012G>A	ENST00000217233.3	+	3	926	c.373G>A	c.(373-375)Gag>Aag	p.E125K	TRIB3_ENST00000422053.2_Missense_Mutation_p.E152K	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	125	Interaction with DDIT3/CHOP.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		TCGGCCCACTGAGGTCCTGGC	0.657																																					Melanoma(101;421 2374 19538)												0													41.0	41.0	41.0					20																	372012		2203	4300	6503	SO:0001583	missense	57761			AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.373G>A	20.37:g.372012G>A	ENSP00000217233:p.Glu125Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.E152K	ENST00000217233.3	37	c.454	CCDS12997.1	20	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971148	0.53614	.	.	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	T;T;T	0.21361	2.01;2.02;2.01	5.1	4.14	0.48551	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.581658	0.15583	N	0.254800	T	0.46367	0.1389	M	0.90870	3.155	0.42466	D	0.992807	P;P	0.49090	0.919;0.865	P;P	0.51974	0.686;0.686	T	0.58645	-0.7600	10	0.72032	D	0.01	-12.0024	13.3693	0.60703	0.0:0.1592:0.8408:0.0	.	152;125	B4DMM9;Q96RU7	.;TRIB3_HUMAN	K	125;125;152	ENSP00000217233:E125K;ENSP00000391873:E125K;ENSP00000415416:E152K	ENSP00000217233:E125K	E	+	1	0	TRIB3	320012	1.000000	0.71417	0.461000	0.27105	0.006000	0.05464	6.526000	0.73799	1.354000	0.45846	-0.305000	0.09177	GAG	TRIB3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.657	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB3	HGNC	protein_coding	OTTHUMT00000077441.2	G	NM_021158		372012	+1	no_errors	ENST00000422053	ensembl	human	known	70_37	missense	SNP	0.991	A
TRIM14	9830	genome.wustl.edu	37	9	100849773	100849773	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:100849773G>A	ENST00000341469.2	-	6	1317	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	TRIM14_ENST00000342043.3_Silent_p.I436I|TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000538344.1_Silent_p.I217I|TRIM14_ENST00000375098.3_Silent_p.I436I	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	436	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GGGGGATGCTGATGGCCCCCT	0.682																																					Colon(14;460 597 13826 51781)												0													11.0	14.0	13.0					9																	100849773		2194	4290	6484	SO:0001819	synonymous_variant	9830			AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"""Tripartite motif containing / Tripartite motif containing"""	16283	protein-coding gene	gene with protein product		606556	"""tripartite motif-containing 14"""			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.1308C>T	9.37:g.100849773G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin	p.I436	ENST00000341469.2	37	c.1308	CCDS6734.1	9																																																																																			TRIM14	-	smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.682	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM14	HGNC	protein_coding	OTTHUMT00000053350.1	G	NM_014788		100849773	-1	no_errors	ENST00000341469	ensembl	human	known	70_37	silent	SNP	0.948	A
TRIM16	10626	genome.wustl.edu	37	17	15554673	15554673	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:15554673G>C	ENST00000578237.1	-	6	1106	c.251C>G	c.(250-252)aCc>aGc	p.T84S	TRIM16_ENST00000416464.2_Intron|RP11-640I15.1_ENST00000584540.1_RNA|RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.T84S|TRIM16_ENST00000581224.1_Intron|TRIM16_ENST00000336708.7_Missense_Mutation_p.T84S			O95361	TRI16_HUMAN	tripartite motif containing 16	84					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CACTCTTCTGGTGTCATCAAG	0.542																																																	0													184.0	166.0	172.0					17																	15554673		2203	4300	6503	SO:0001583	missense	10626			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.251C>G	17.37:g.15554673G>C	ENSP00000463188:p.Thr84Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin	p.T84S	ENST00000578237.1	37	c.251	CCDS11171.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	1.855|1.855	-0.463969|-0.463969	0.04476|0.04476	.|.	.|.	ENSG00000251537|ENSG00000221926	ENST00000455584|ENST00000336708	.|T	.|0.61627	.|0.09	3.92|3.92	0.198|0.198	0.15168|0.15168	.|Zinc finger, B-box (1);	.|1.309190	.|0.05546	.|N	.|0.566603	T|T	0.38480|0.38480	0.1042|0.1042	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B	.|0.18610	.|0.029;0.005	.|B;B	.|0.15870	.|0.014;0.002	T|T	0.17137|0.17137	-1.0379|-1.0379	5|10	.|0.07644	.|T	.|0.81	.|.	7.36|7.36	0.26742|0.26742	0.0:0.1426:0.4325:0.4249|0.0:0.1426:0.4325:0.4249	.|.	.|84;98	.|O95361;Q59EB2	.|TRI16_HUMAN;.	A|S	99|84	.|ENSP00000338989:T84S	.|ENSP00000338989:T84S	P|T	-|-	1|2	0|0	RP11-385D13.1|TRIM16	15495398|15495398	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.056000|0.056000	0.15407|0.15407	0.004000|0.004000	0.13106|0.13106	0.066000|0.066000	0.16515|0.16515	0.563000|0.563000	0.77884|0.77884	CCA|ACC	TRIM16	-	smart_Znf_B-box		0.542	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM16	HGNC	protein_coding	OTTHUMT00000130700.2	G	NM_006470		15554673	-1	no_errors	ENST00000336708	ensembl	human	known	70_37	missense	SNP	0.144	C
TRIM2	23321	genome.wustl.edu	37	4	154191652	154191652	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:154191652C>T	ENST00000437508.2	+	2	316	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000338700.5_Silent_p.L66L	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	39					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TCTCCCCTGTCTGCACACTTT	0.507																																																	0													145.0	125.0	132.0					4																	154191652		2203	4300	6503	SO:0001819	synonymous_variant	23321			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.115C>T	4.37:g.154191652C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.L66	ENST00000437508.2	37	c.196	CCDS47147.1	4																																																																																			TRIM2	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.507	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM2	HGNC	protein_coding	OTTHUMT00000342652.1	C			154191652	+1	no_errors	ENST00000338700	ensembl	human	known	70_37	silent	SNP	1.000	T
TRIM31	11074	genome.wustl.edu	37	6	30071895	30071895	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:30071895G>A	ENST00000376734.3	-	8	1133	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P	TRIM31_ENST00000485864.1_5'Flank|TRIM31_ENST00000540829.1_Silent_p.P336P|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	336					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						AAGATGACCCGGGCTCTGAGG	0.423																																																	0													135.0	153.0	147.0					6																	30071895		1510	2709	4219	SO:0001819	synonymous_variant	11074			AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16289	protein-coding gene	gene with protein product		609316	"""tripartite motif-containing 31"""			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.1008C>T	6.37:g.30071895G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Znf_B-box_chordata	p.P336	ENST00000376734.3	37	c.1008	CCDS34374.1	6																																																																																			TRIM31	-	NULL		0.423	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM31	HGNC	protein_coding	OTTHUMT00000076081.2	G			30071895	-1	no_errors	ENST00000376734	ensembl	human	known	70_37	silent	SNP	0.000	A
TRIM62	55223	genome.wustl.edu	37	1	33613039	33613039	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:33613039G>A	ENST00000291416.5	-	5	1400	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	TRIM62_ENST00000543586.1_Silent_p.I268I	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	389	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CGTGCATCACGATGCAGTAGA	0.627																																																	0													58.0	58.0	58.0					1																	33613039		2203	4300	6503	SO:0001819	synonymous_variant	55223			BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1167C>T	1.37:g.33613039G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.I389	ENST00000291416.5	37	c.1167	CCDS376.1	1																																																																																			TRIM62	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.627	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM62	HGNC	protein_coding	OTTHUMT00000011890.1	G	NM_018207		33613039	-1	no_errors	ENST00000291416	ensembl	human	known	70_37	silent	SNP	1.000	A
TRIM46	80128	genome.wustl.edu	37	1	155147102	155147102	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155147102G>A	ENST00000334634.4	+	1	63				TRIM46_ENST00000368383.3_Intron|TRIM46_ENST00000368382.1_Intron|RP11-201K10.3_ENST00000473363.2_Intron|KRTCAP2_ENST00000295682.4_5'Flank|KRTCAP2_ENST00000490672.1_5'Flank|TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000392451.2_Intron|TRIM46_ENST00000368385.4_Intron|TRIM46_ENST00000543729.1_Intron	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGATGGCTGCGAAGAGAGGGA	0.687																																																	0																																										SO:0001627	intron_variant	80128				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.63+597G>A	1.37:g.155147102G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	RNA	SNP	-	NULL	ENST00000334634.4	37	NULL	CCDS1097.1	1																																																																																			TRIM46	-	-		0.687	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	HGNC	protein_coding	OTTHUMT00000086728.1	G	NM_025058		155147102	+1	no_errors	ENST00000464760	ensembl	human	known	70_37	rna	SNP	0.999	A
TRIM72	493829	genome.wustl.edu	37	16	31235640	31235640	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:31235640C>T	ENST00000322122.3	+	7	1282	c.998C>T	c.(997-999)gCg>gTg	p.A333V	RP11-388M20.9_ENST00000576745.1_lincRNA	NM_001008274.3	NP_001008275.2			tripartite motif containing 72, E3 ubiquitin protein ligase											breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						AAGGCGGTGGCGGTGGTGGCG	0.731																																																	0													12.0	12.0	12.0					16																	31235640		2191	4273	6464	SO:0001583	missense	493829			AK090695	CCDS32437.1	16p11.2	2014-02-10	2014-02-10					"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32671	protein-coding gene	gene with protein product	"""mitsugumin 53"""	613288	"""tripartite motif-containing 72"", ""tripartite motif containing 72"""			20399744, 23354051	Standard	NM_001008274		Approved	MG53	uc002ebn.2	Q6ZMU5		ENST00000322122.3:c.998C>T	16.37:g.31235640C>T	ENSP00000312675:p.Ala333Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.A333V	ENST00000322122.3	37	c.998	CCDS32437.1	16	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308546	0.81247	.	.	ENSG00000177238	ENST00000322122	T	0.10960	2.82	5.44	3.36	0.38483	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.233500	0.30410	N	0.009699	T	0.15696	0.0378	M	0.73598	2.24	0.33149	D	0.545365	D	0.65815	0.995	P	0.46237	0.508	T	0.27773	-1.0064	10	0.30854	T	0.27	.	9.1252	0.36810	0.0:0.6875:0.2297:0.0827	.	333	Q6ZMU5	TRI72_HUMAN	V	333	ENSP00000312675:A333V	ENSP00000312675:A333V	A	+	2	0	TRIM72	31143141	0.058000	0.20735	1.000000	0.80357	0.919000	0.55068	0.485000	0.22324	1.303000	0.44873	0.491000	0.48974	GCG	TRIM72	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin		0.731	TRIM72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM72	HGNC	protein_coding	OTTHUMT00000433567.1	C	NM_001008274		31235640	+1	no_errors	ENST00000322122	ensembl	human	known	70_37	missense	SNP	0.971	T
TRIM9	114088	genome.wustl.edu	37	14	51477205	51477205	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:51477205C>G	ENST00000298355.3	-	4	2170	c.1049G>C	c.(1048-1050)cGa>cCa	p.R350P	TRIM9_ENST00000338969.5_Missense_Mutation_p.R350P|TRIM9_ENST00000360392.4_Missense_Mutation_p.R350P	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	350					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GATCTGATCTCGAACCACCTA	0.433																																																	0													95.0	93.0	93.0					14																	51477205		2203	4300	6503	SO:0001583	missense	114088			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1049G>C	14.37:g.51477205C>G	ENSP00000298355:p.Arg350Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.R350P	ENST00000298355.3	37	c.1049	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725702	0.89298	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.71222	-0.43;-0.55;0.51	5.87	5.87	0.94306	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80984	0.4729	L	0.50333	1.59	0.51767	D	0.999939	D;D;D	0.71674	0.993;0.998;0.96	P;D;P	0.69479	0.901;0.964;0.544	T	0.78170	-0.2308	10	0.42905	T	0.14	.	19.5705	0.95413	0.0:1.0:0.0:0.0	.	350;350;350	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	P	350	ENSP00000298355:R350P;ENSP00000342970:R350P;ENSP00000353561:R350P	ENSP00000298355:R350P	R	-	2	0	TRIM9	50546955	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.754000	0.85163	2.941000	0.99782	0.655000	0.94253	CGA	TRIM9	-	smart_Bbox_C		0.433	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	C	NM_015163		51477205	-1	no_errors	ENST00000338969	ensembl	human	known	70_37	missense	SNP	1.000	G
TRIP10	9322	genome.wustl.edu	37	19	6751284	6751284	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:6751284C>T	ENST00000313244.9	+	0	1903				TRIP10_ENST00000600428.1_3'UTR|TRIP10_ENST00000596758.1_Nonsense_Mutation_p.Q577*|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313285.8_3'UTR			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10						actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CGGGGAGCCCCAGGACCTATG	0.627																																																	0																																										SO:0001624	3_prime_UTR_variant	9322			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.*62C>T	19.37:g.6751284C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Nonsense_Mutation	SNP	pfam_FCH,smart_FCH,pfscan_FCH	p.Q577*	ENST00000313244.9	37	c.1729		19	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020790	0.54576	.	.	ENSG00000125733	ENST00000420690	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.53688	D	0.999973	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.3943	0.60840	0.0:1.0:0.0:0.0	.	.	.	.	X	577	.	ENSP00000415493:Q577X	Q	+	1	0	TRIP10	6702284	0.979000	0.34478	1.000000	0.80357	0.136000	0.21042	0.390000	0.20768	2.616000	0.88540	0.460000	0.39030	CAG	TRIP10	-	NULL		0.627	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2	C			6751284	+1	no_errors	ENST00000596758	ensembl	human	known	70_37	nonsense	SNP	0.718	T
TRIP11	9321	genome.wustl.edu	37	14	92472348	92472348	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:92472348G>A	ENST00000267622.4	-	11	2345	c.1972C>T	c.(1972-1974)Ctt>Ttt	p.L658F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	658					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AATTCTGAAAGATTTTGCTTT	0.299			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													36.0	37.0	37.0					14																	92472348		2200	4292	6492	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1972C>T	14.37:g.92472348G>A	ENSP00000267622:p.Leu658Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.L658F	ENST00000267622.4	37	c.1972	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.65|15.65	2.896406|2.896406	0.52121|0.52121	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.07327|.	3.2|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.140472|.	0.47852|.	N|.	0.000204|.	T|T	0.69459|0.69459	0.3113|0.3113	M|M	0.72894|0.72894	2.215|2.215	0.37195|0.37195	D|D	0.904123|0.904123	D;D|.	0.63046|.	0.992;0.992|.	P;D|.	0.64237|.	0.907;0.923|.	T|T	0.72581|0.72581	-0.4250|-0.4250	10|5	0.10111|.	T|.	0.7|.	.|.	13.4544|13.4544	0.61191|0.61191	0.0:0.1189:0.7579:0.1232|0.0:0.1189:0.7579:0.1232	.|.	394;658|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	F|F	658;394|373	ENSP00000267622:L658F|.	ENSP00000267622:L658F|.	L|S	-|-	1|2	0|0	TRIP11|TRIP11	91542101|91542101	0.988000|0.988000	0.35896|0.35896	0.997000|0.997000	0.53966|0.53966	0.764000|0.764000	0.43329|0.43329	2.044000|2.044000	0.41241|0.41241	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CTT|TCT	TRIP11	-	NULL		0.299	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	G			92472348	-1	no_errors	ENST00000267622	ensembl	human	known	70_37	missense	SNP	0.963	A
TRIP13	9319	genome.wustl.edu	37	5	908479	908479	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:908479C>G	ENST00000166345.3	+	9	1125	c.769C>G	c.(769-771)Ctc>Gtc	p.L257V		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	257					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GGTGGAGAGTCTCACAGCCGC	0.567																																																	0													49.0	52.0	51.0					5																	908479		2203	4300	6503	SO:0001583	missense	9319			L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.769C>G	5.37:g.908479C>G	ENSP00000166345:p.Leu257Val	Somatic		WXS	Illumina HiSeq	Phase_IV	C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase,prints_Chaprnin_ClpA/B	p.L257V	ENST00000166345.3	37	c.769	CCDS3858.1	5	.	.	.	.	.	.	.	.	.	.	.	25.5	4.649161	0.87958	.	.	ENSG00000071539	ENST00000166345	D	0.94417	-3.42	6.08	5.2	0.72013	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97551	0.9198	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97697	1.0182	10	0.72032	D	0.01	-17.5002	14.4928	0.67663	0.0:0.9296:0.0:0.0704	.	257	Q15645	PCH2_HUMAN	V	257	ENSP00000166345:L257V	ENSP00000166345:L257V	L	+	1	0	TRIP13	961479	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	4.469000	0.60169	2.894000	0.99253	0.655000	0.94253	CTC	TRIP13	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase		0.567	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP13	HGNC	protein_coding	OTTHUMT00000206721.2	C	NM_004237		908479	+1	no_errors	ENST00000166345	ensembl	human	known	70_37	missense	SNP	1.000	G
TRMT1	55621	genome.wustl.edu	37	19	13226520	13226520	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:13226520C>G	ENST00000592062.1	-	5	943	c.373G>C	c.(373-375)Gaa>Caa	p.E125Q	TRMT1_ENST00000221504.8_Missense_Mutation_p.E125Q|NACC1_ENST00000292431.4_5'Flank|TRMT1_ENST00000592892.1_5'UTR|TRMT1_ENST00000437766.1_Missense_Mutation_p.E125Q|TRMT1_ENST00000357720.4_Missense_Mutation_p.E125Q			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	125	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TCAACCTTTTCCTCCTCTTGC	0.547																																																	0													198.0	201.0	200.0					19																	13226520		2203	4300	6503	SO:0001583	missense	55621			AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.373G>C	19.37:g.13226520C>G	ENSP00000466967:p.Glu125Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1	p.E125Q	ENST00000592062.1	37	c.373	CCDS12293.1	19	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018141	0.54576	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	4.74	4.74	0.60224	.	0.400357	0.25925	N	0.027414	T	0.52677	0.1749	L	0.49455	1.56	0.53005	D	0.999964	P;B	0.35272	0.493;0.059	B;B	0.34779	0.189;0.077	T	0.55373	-0.8151	9	0.41790	T	0.15	-7.2131	15.261	0.73621	0.0:1.0:0.0:0.0	.	125;125	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	Q	125	.	ENSP00000221504:E125Q	E	-	1	0	TRMT1	13087520	1.000000	0.71417	0.995000	0.50966	0.809000	0.45718	4.946000	0.63576	2.469000	0.83416	0.563000	0.77884	GAA	TRMT1	-	pfam_TRM1,tigrfam_TRM1		0.547	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT1	HGNC	protein_coding	OTTHUMT00000452780.2	C	NM_017722		13226520	-1	no_errors	ENST00000357720	ensembl	human	known	70_37	missense	SNP	0.999	G
TROAP	10024	genome.wustl.edu	37	12	49717669	49717669	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:49717669C>T	ENST00000257909.3	+	3	262	c.186C>T	c.(184-186)ctC>ctT	p.L62L	TROAP_ENST00000380327.5_Silent_p.L62L|TROAP_ENST00000551245.1_Silent_p.L62L|TROAP_ENST00000548311.1_Silent_p.L62L|TROAP_ENST00000549275.1_Intron|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000550709.1_Silent_p.L62L|TROAP_ENST00000547923.1_5'Flank	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	62					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						AACGCCCCCTCGTTGATTCAG	0.562																																																	0													75.0	78.0	77.0					12																	49717669		2203	4300	6503	SO:0001819	synonymous_variant	10024			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.186C>T	12.37:g.49717669C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	F8VSF9|Q6PJU7|Q8N5B2	Silent	SNP	NULL	p.L62	ENST00000257909.3	37	c.186	CCDS8784.1	12																																																																																			TROAP	-	NULL		0.562	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROAP	HGNC	protein_coding	OTTHUMT00000404300.1	C	NM_005480		49717669	+1	no_errors	ENST00000257909	ensembl	human	known	70_37	silent	SNP	0.000	T
TROAP	10024	genome.wustl.edu	37	12	49720471	49720471	+	Nonsense_Mutation	SNP	C	C	G	rs373717292		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:49720471C>G	ENST00000257909.3	+	7	813	c.737C>G	c.(736-738)tCa>tGa	p.S246*	TROAP_ENST00000551245.1_Nonsense_Mutation_p.S246*|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000547923.1_5'UTR	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	246					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						AGCCAGGCCTCAGGATTGCTC	0.522																																																	0													58.0	42.0	47.0					12																	49720471		2200	4289	6489	SO:0001587	stop_gained	10024			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.737C>G	12.37:g.49720471C>G	ENSP00000257909:p.Ser246*	Somatic		WXS	Illumina HiSeq	Phase_IV	F8VSF9|Q6PJU7|Q8N5B2	Nonsense_Mutation	SNP	NULL	p.S246*	ENST00000257909.3	37	c.737	CCDS8784.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.875570	0.97055	.	.	ENSG00000135451	ENST00000551245;ENST00000550346;ENST00000257909;ENST00000547807	.	.	.	5.24	5.24	0.73138	.	0.468807	0.18351	N	0.143862	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.2453	14.5152	0.67814	0.0:1.0:0.0:0.0	.	.	.	.	X	246;129;246;246	.	ENSP00000257909:S246X	S	+	2	0	TROAP	48006738	0.991000	0.36638	0.977000	0.42913	0.978000	0.69477	3.233000	0.51311	2.884000	0.98904	0.655000	0.94253	TCA	TROAP	-	NULL		0.522	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROAP	HGNC	protein_coding	OTTHUMT00000404300.1	C	NM_005480		49720471	+1	no_errors	ENST00000257909	ensembl	human	known	70_37	nonsense	SNP	0.988	G
TRPC3	7222	genome.wustl.edu	37	4	122833186	122833186	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:122833186G>C	ENST00000379645.3	-	5	1477	c.1404C>G	c.(1402-1404)atC>atG	p.I468M	TRPC3_ENST00000513531.1_Missense_Mutation_p.I340M|TRPC3_ENST00000264811.5_Missense_Mutation_p.I395M	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	383					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GACCCAGGAAGATGATGAAAG	0.448																																																	0													93.0	99.0	97.0					4																	122833186		2203	4300	6503	SO:0001583	missense	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1404C>G	4.37:g.122833186G>C	ENSP00000368966:p.Ile468Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.I468M	ENST00000379645.3	37	c.1404	CCDS47130.1	4	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311744	0.40895	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.42900	0.96;0.96;0.96	5.49	3.46	0.39613	.	0.138265	0.49916	D	0.000131	T	0.31513	0.0799	L	0.53249	1.67	0.41161	D	0.986094	B;B;B	0.32829	0.116;0.116;0.386	B;B;B	0.34093	0.062;0.091;0.175	T	0.21245	-1.0251	10	0.36615	T	0.2	-0.1388	1.7573	0.02985	0.2748:0.0:0.4119:0.3133	.	383;340;468	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	M	395;468;340	ENSP00000264811:I395M;ENSP00000368966:I468M;ENSP00000426899:I340M	ENSP00000264811:I395M	I	-	3	3	TRPC3	123052636	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.489000	0.45285	1.289000	0.44618	0.462000	0.41574	ATC	TRPC3	-	tigrfam_TRP_channel		0.448	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	G	NM_003305		122833186	-1	no_errors	ENST00000379645	ensembl	human	known	70_37	missense	SNP	1.000	C
TRPC6	7225	genome.wustl.edu	37	11	101347230	101347230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:101347230G>A	ENST00000344327.3	-	6	1970	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000348423.4_Nonsense_Mutation_p.Q400*|TRPC6_ENST00000360497.4_Nonsense_Mutation_p.Q461*	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	516					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTGGGGCCCTGAGTCCAGATT	0.388																																					Colon(166;1315 1927 11094 12848 34731)												0													70.0	67.0	68.0					11																	101347230		2203	4299	6502	SO:0001587	stop_gained	7225			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1546C>T	11.37:g.101347230G>A	ENSP00000340913:p.Gln516*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.Q516*	ENST00000344327.3	37	c.1546	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.254747	0.97417	.	.	ENSG00000137672	ENST00000344327;ENST00000348423;ENST00000360497	.	.	.	5.97	5.06	0.68205	.	0.048359	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-9.8966	17.0781	0.86591	0.0:0.1337:0.8663:0.0	.	.	.	.	X	516;400;461	.	ENSP00000340913:Q516X	Q	-	1	0	TRPC6	100852440	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.757000	0.62213	1.516000	0.48900	0.643000	0.83706	CAG	TRPC6	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel		0.388	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	G	NM_004621		101347230	-1	no_errors	ENST00000344327	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TRPM1	4308	genome.wustl.edu	37	15	31354877	31354877	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:31354877G>A	ENST00000256552.6	-	9	1141	c.994C>T	c.(994-996)Ctt>Ttt	p.L332F	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.L310F|TRPM1_ENST00000542188.1_Missense_Mutation_p.L349F	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTAACTAGAAGCTGCTCCCTG	0.338																																																	0													110.0	98.0	101.0					15																	31354877		1812	4079	5891	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.994C>T	15.37:g.31354877G>A	ENSP00000256552:p.Leu332Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom	p.L349F	ENST00000256552.6	37	c.1045	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107411	0.77096	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.61158	0.13;0.13;0.13	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.70928	0.3280	M	0.66939	2.045	0.80722	D	1	P;D	0.53462	0.504;0.96	B;P	0.55391	0.442;0.775	T	0.68330	-0.5437	10	0.38643	T	0.18	-21.8934	19.8968	0.96969	0.0:0.0:1.0:0.0	.	304;310	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	F	310;349;332;310	ENSP00000380897:L310F;ENSP00000437849:L349F;ENSP00000256552:L332F	ENSP00000256552:L332F	L	-	1	0	TRPM1	29142169	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	6.630000	0.74272	2.691000	0.91804	0.655000	0.94253	CTT	TRPM1	-	NULL		0.338	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	G	NM_002420		31354877	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	missense	SNP	1.000	A
TRPT1	83707	genome.wustl.edu	37	11	63992160	63992160	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:63992160C>T	ENST00000317459.6	-	5	525	c.357G>A	c.(355-357)gaG>gaA	p.E119E	NUDT22_ENST00000279206.3_5'Flank|TRPT1_ENST00000394546.2_Silent_p.E121E|NUDT22_ENST00000441250.2_5'Flank|TRPT1_ENST00000546133.1_5'Flank|TRPT1_ENST00000546089.1_Silent_p.E70E|TRPT1_ENST00000540472.1_5'Flank|TRPT1_ENST00000394547.3_Silent_p.E70E|TRPT1_ENST00000541278.1_Silent_p.E119E			Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	119					regulation of protein kinase activity (GO:0045859)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)		tRNA 2'-phosphotransferase activity (GO:0000215)			lung(2)|skin(1)	3						CCTGCGGTGTCTCCAGGGGCA	0.607																																																	0													95.0	88.0	90.0					11																	63992160		2201	4297	6498	SO:0001819	synonymous_variant	83707				CCDS31595.1, CCDS44639.1, CCDS53652.1, CCDS53653.1	11q13	2012-05-03			ENSG00000149743	ENSG00000149743			20316	protein-coding gene	gene with protein product	"""tRNA splicing 2' phosphotransferase 1"""	610470				14504659	Standard	NM_001160389		Approved	MGC11134	uc010rnc.2	Q86TN4	OTTHUMG00000167844	ENST00000317459.6:c.357G>A	11.37:g.63992160C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MU17|A8MYC9|F5H2B2|Q9BSB9	Silent	SNP	pfam_Ptrans_KptA/Tpt1	p.E121	ENST00000317459.6	37	c.363	CCDS31595.1	11																																																																																			TRPT1	-	pfam_Ptrans_KptA/Tpt1		0.607	TRPT1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPT1	HGNC	protein_coding	OTTHUMT00000396579.1	C	NM_031472		63992160	-1	no_errors	ENST00000394546	ensembl	human	known	70_37	silent	SNP	0.993	T
TRRAP	8295	genome.wustl.edu	37	7	98550892	98550892	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:98550892G>A	ENST00000359863.4	+	39	5754	c.5545G>A	c.(5545-5547)Gac>Aac	p.D1849N	TRRAP_ENST00000446306.3_Missense_Mutation_p.D1830N|TRRAP_ENST00000355540.3_Missense_Mutation_p.D1831N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1849					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCACATCCATGACAACAACAA	0.642																																																	0													123.0	96.0	106.0					7																	98550892		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5545G>A	7.37:g.98550892G>A	ENSP00000352925:p.Asp1849Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.D1849N	ENST00000359863.4	37	c.5545	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.606522|5.606522	0.96626|0.96626	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.65732|.	-0.17;-0.17|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70133|0.70133	0.3189|0.3189	L|L	0.46614|0.46614	1.455|1.455	0.80722|0.80722	D|D	1|1	P;P;D|.	0.67145|.	0.955;0.911;0.996|.	P;B;D|.	0.68039|.	0.549;0.433;0.955|.	T|T	0.64214|0.64214	-0.6460|-0.6460	10|5	0.62326|.	D|.	0.03|.	.|.	20.1184|20.1184	0.97949|0.97949	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1831;1570;1849|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	N|I	1849;1831;1829|1570	ENSP00000352925:D1849N;ENSP00000347733:D1831N|.	ENSP00000347733:D1831N|.	D|M	+|+	1|3	0|0	TRRAP|TRRAP	98388828|98388828	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.979000|0.979000	0.70002|0.70002	9.869000|9.869000	0.99810|0.99810	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	GAC|ATG	TRRAP	-	superfamily_ARM-type_fold		0.642	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98550892	+1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	A
TRPV6	55503	genome.wustl.edu	37	7	142573425	142573425	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:142573425C>T	ENST00000359396.3	-	8	1163	c.918G>A	c.(916-918)caG>caA	p.Q306Q	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	306					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGTCCAGGATCTGGCGAGCCT	0.597																																																	0													63.0	67.0	66.0					7																	142573425		2203	4300	6503	SO:0001819	synonymous_variant	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.918G>A	7.37:g.142573425C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.Q306	ENST00000359396.3	37	c.918	CCDS5874.1	7																																																																																			TRPV6	-	prints_TRPV5/TRPV6_channel,tigrfam_TRP_channel		0.597	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	HGNC	protein_coding	OTTHUMT00000347662.1	C	NM_014274		142573425	-1	no_errors	ENST00000359396	ensembl	human	known	70_37	silent	SNP	0.994	T
TSC2	7249	genome.wustl.edu	37	16	2129076	2129076	+	Missense_Mutation	SNP	G	G	A	rs137854287		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2129076G>A	ENST00000219476.3	+	27	3640	c.3010G>A	c.(3010-3012)Gat>Aat	p.D1004N	TSC2_ENST00000350773.4_Missense_Mutation_p.D1004N|TSC2_ENST00000382538.6_Missense_Mutation_p.D912N|TSC2_ENST00000568454.1_Missense_Mutation_p.D971N|TSC2_ENST00000401874.2_Missense_Mutation_p.D960N|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000353929.4_Missense_Mutation_p.D961N|TSC2_ENST00000439673.2_Missense_Mutation_p.D924N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1004					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGGGTCTGCAGATGAGAACTC	0.612			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													103.0	86.0	92.0					16																	2129076		2197	4300	6497	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3010G>A	16.37:g.2129076G>A	ENSP00000219476:p.Asp1004Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.D1004N	ENST00000219476.3	37	c.3010	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	G	34	5.388753	0.95988	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.90444	-2.58;-2.6;-2.67;-2.64;-2.55	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.93828	0.8026	L	0.51422	1.61	0.80722	D	1	D;D;D;D;D;D	0.69078	0.992;0.997;0.995;0.997;0.987;0.997	D;D;D;D;P;D	0.81914	0.93;0.995;0.968;0.995;0.85;0.98	D	0.93585	0.6916	10	0.46703	T	0.11	-26.05	18.5973	0.91234	0.0:0.0:1.0:0.0	.	912;924;1004;960;960;1004	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	N	1004;961;961;924;912;1004	ENSP00000219476:D1004N;ENSP00000248099:D961N;ENSP00000399232:D924N;ENSP00000371978:D912N;ENSP00000344383:D1004N	ENSP00000219476:D1004N	D	+	1	0	TSC2	2069077	1.000000	0.71417	0.831000	0.32960	0.913000	0.54294	9.787000	0.99055	2.389000	0.81357	0.655000	0.94253	GAT	TSC2	-	NULL		0.612	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	G	NM_000548		2129076	+1	no_errors	ENST00000219476	ensembl	human	known	70_37	missense	SNP	1.000	A
TSC2	7249	genome.wustl.edu	37	16	2129355	2129355	+	Silent	SNP	G	G	A	rs539927192		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2129355G>A	ENST00000219476.3	+	28	3840	c.3210G>A	c.(3208-3210)acG>acA	p.T1070T	TSC2_ENST00000350773.4_Silent_p.T1070T|TSC2_ENST00000382538.6_Silent_p.T978T|TSC2_ENST00000568454.1_Silent_p.T1037T|TSC2_ENST00000401874.2_Silent_p.T1026T|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000353929.4_Silent_p.T1027T|TSC2_ENST00000439673.2_Silent_p.T990T	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1070					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCACTGTGACGACAAGCGTGG	0.622			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		16760	0.001		0.0	False		,,,				2504	0.0						yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													87.0	88.0	87.0					16																	2129355		2198	4300	6498	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3210G>A	16.37:g.2129355G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.T1070	ENST00000219476.3	37	c.3210	CCDS10458.1	16																																																																																			TSC2	-	NULL		0.622	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	G	NM_000548		2129355	+1	no_errors	ENST00000219476	ensembl	human	known	70_37	silent	SNP	0.056	A
TSGA10IP	254187	genome.wustl.edu	37	11	65715065	65715065	+	RNA	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:65715065G>C	ENST00000532620.1	+	0	1000				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						AGAGGAGGCTGAGGAGGGAGA	0.622																																																	0													36.0	44.0	41.0					11																	65715065		2023	4178	6201			254187			AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65715065G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SXZ9|Q3SY01|Q96M26	RNA	SNP	-	NULL	ENST00000532620.1	37	NULL		11																																																																																			TSGA10IP	-	-		0.622	TSGA10IP-001	KNOWN	basic	processed_transcript	TSGA10IP	HGNC	polymorphic_pseudogene	OTTHUMT00000391373.2	G	NM_152762		65715065	+1	no_errors	ENST00000532620	ensembl	human	known	70_37	rna	SNP	0.920	C
TSPAN33	340348	genome.wustl.edu	37	7	128807381	128807381	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:128807381C>G	ENST00000289407.4	+	7	839	c.730C>G	c.(730-732)Cta>Gta	p.L244V	Y_RNA_ENST00000363759.1_RNA|RP11-286H14.6_ENST00000498745.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	244					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TGGTGTGGCTCTAGGCCTGGC	0.493																																																	0													167.0	159.0	161.0					7																	128807381		2203	4300	6503	SO:0001583	missense	340348				CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.730C>G	7.37:g.128807381C>G	ENSP00000289407:p.Leu244Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L244V	ENST00000289407.4	37	c.730	CCDS5810.1	7	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487105	0.26686	.	.	ENSG00000158457	ENST00000289407	T	0.80994	-1.44	5.72	3.91	0.45181	.	0.067445	0.64402	D	0.000013	T	0.64897	0.2640	N	0.17838	0.53	0.46317	D	0.998986	B	0.16396	0.017	B	0.22753	0.041	T	0.53549	-0.8423	10	0.20046	T	0.44	-15.5344	8.2384	0.31640	0.0:0.7542:0.0:0.2458	.	244	Q86UF1	TSN33_HUMAN	V	244	ENSP00000289407:L244V	ENSP00000289407:L244V	L	+	1	2	TSPAN33	128594617	0.749000	0.28305	0.998000	0.56505	0.991000	0.79684	1.461000	0.35255	0.756000	0.33013	0.655000	0.94253	CTA	TSPAN33	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.493	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN33	HGNC	protein_coding	OTTHUMT00000350983.1	C	NM_178562		128807381	+1	no_errors	ENST00000289407	ensembl	human	known	70_37	missense	SNP	0.994	G
TSPYL2	64061	genome.wustl.edu	37	X	53113756	53113756	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:53113756G>C	ENST00000375442.4	+	2	969	c.837G>C	c.(835-837)ttG>ttC	p.L279F		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	279					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						TTTCAATTTTGATCAACCGAC	0.483																																																	0													155.0	133.0	140.0					X																	53113756		2203	4300	6503	SO:0001583	missense	64061			AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.837G>C	X.37:g.53113756G>C	ENSP00000364591:p.Leu279Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	pfam_NAP_family	p.L279F	ENST00000375442.4	37	c.837	CCDS14350.1	X	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665931	0.47677	.	.	ENSG00000184205	ENST00000375442	T	0.27402	1.67	3.74	3.74	0.42951	.	0.529128	0.14315	N	0.327452	T	0.23094	0.0558	N	0.25992	0.78	0.28766	N	0.900619	B;B	0.29232	0.238;0.238	B;B	0.28011	0.085;0.085	T	0.13683	-1.0500	10	0.49607	T	0.09	-29.5392	12.6499	0.56755	0.0:0.0:1.0:0.0	.	279;279	Q9H2G4;A8K8U7	TSYL2_HUMAN;.	F	279	ENSP00000364591:L279F	ENSP00000364591:L279F	L	+	3	2	TSPYL2	53130481	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.371000	0.44248	2.138000	0.66242	0.508000	0.49915	TTG	TSPYL2	-	pfam_NAP_family		0.483	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL2	HGNC	protein_coding	OTTHUMT00000056718.1	G	NM_022117		53113756	+1	no_errors	ENST00000375442	ensembl	human	known	70_37	missense	SNP	1.000	C
TTBK1	84630	genome.wustl.edu	37	6	43237552	43237552	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:43237552G>A	ENST00000259750.4	+	13	2069				TTBK1_ENST00000304139.5_Missense_Mutation_p.669_669insK	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1						substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCGCTCGGCTGAGAGCAGCCC	0.716																																																	0													4.0	4.0	4.0					6																	43237552		772	1769	2541	SO:0001627	intron_variant	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1986+6464G>A	6.37:g.43237552G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.*622	ENST00000259750.4	37	c.1865	CCDS34455.1	6																																																																																			TTBK1	-	NULL		0.716	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	G			43237552	+1	no_errors	ENST00000304139	ensembl	human	putative	70_37	silent	SNP	1.000	A
TTBK2	146057	genome.wustl.edu	37	15	43045109	43045109	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:43045109C>G	ENST00000267890.6	-	14	2443	c.2335G>C	c.(2335-2337)Gag>Cag	p.E779Q		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	779					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		ATGCTTTTCTCTTCAGTTTCC	0.393																																																	0													168.0	153.0	158.0					15																	43045109		1846	4093	5939	SO:0001583	missense	146057			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2335G>C	15.37:g.43045109C>G	ENSP00000267890:p.Glu779Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E779Q	ENST00000267890.6	37	c.2335	CCDS42029.1	15	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757241	0.49468	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.43688	0.94	5.87	5.87	0.94306	.	0.292780	0.36665	N	0.002473	T	0.44030	0.1274	L	0.50333	1.59	0.80722	D	1	B;B	0.34103	0.437;0.11	B;B	0.36504	0.226;0.113	T	0.39981	-0.9587	10	0.66056	D	0.02	.	17.3741	0.87386	0.0:1.0:0.0:0.0	.	710;779	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	Q	779;709;1184	ENSP00000267890:E779Q	ENSP00000263802:E1184Q	E	-	1	0	TTBK2	40832401	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.845000	0.62853	2.785000	0.95823	0.655000	0.94253	GAG	TTBK2	-	NULL		0.393	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	HGNC	protein_coding	OTTHUMT00000431106.2	C	NM_173500		43045109	-1	no_errors	ENST00000267890	ensembl	human	known	70_37	missense	SNP	1.000	G
TTBK2	146057	genome.wustl.edu	37	15	43069344	43069344	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:43069344G>C	ENST00000267890.6	-	12	1402	c.1294C>G	c.(1294-1296)Cag>Gag	p.Q432E	TTBK2_ENST00000567274.1_Missense_Mutation_p.Q397E|TTBK2_ENST00000567840.1_Missense_Mutation_p.Q432E	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	432					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTGTCTGGCTGAGTAATCTCT	0.502																																																	0													87.0	85.0	86.0					15																	43069344		1948	4148	6096	SO:0001583	missense	146057			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1294C>G	15.37:g.43069344G>C	ENSP00000267890:p.Gln432Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q432E	ENST00000267890.6	37	c.1294	CCDS42029.1	15	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998478	0.54147	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.39229	1.09	5.75	5.75	0.90469	.	0.356725	0.29444	N	0.012137	T	0.47525	0.1450	L	0.29908	0.895	0.43287	D	0.99526	B;P;B;P	0.48694	0.118;0.914;0.191;0.86	B;P;B;P	0.51582	0.007;0.674;0.095;0.474	T	0.44862	-0.9300	10	0.66056	D	0.02	.	19.9525	0.97208	0.0:0.0:1.0:0.0	.	837;363;432;432	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	E	432;362;837	ENSP00000267890:Q432E	ENSP00000263802:Q837E	Q	-	1	0	TTBK2	40856636	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.952000	0.75989	2.719000	0.93026	0.655000	0.94253	CAG	TTBK2	-	NULL		0.502	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	HGNC	protein_coding	OTTHUMT00000431106.2	G	NM_173500		43069344	-1	no_errors	ENST00000267890	ensembl	human	known	70_37	missense	SNP	1.000	C
TTC12	54970	genome.wustl.edu	37	11	113238961	113238961	+	IGR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:113238961G>C	ENST00000529221.1	+	0	2315				TTC12_ENST00000393020.1_Intron|TTC12_ENST00000314756.3_Missense_Mutation_p.E699Q|RP11-159N11.4_ENST00000602900.1_RNA	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGCTGCACCTGAAGCTCTGTC	0.507																																																	0																																										SO:0001628	intergenic_variant	54970			AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832		11.37:g.113238961G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N5H9|Q9NWY3	Missense_Mutation	SNP	pfam_TPR-1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E699Q	ENST00000529221.1	37	c.2095	CCDS8360.2	11	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980817	0.34942	.	.	ENSG00000149292	ENST00000314756	T	0.16743	2.32	4.82	1.92	0.25849	.	4.698790	0.00757	N	0.001115	T	0.15696	0.0378	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19943	-1.0290	7	0.48119	T	0.1	-0.7288	4.0136	0.09634	0.1949:0.0:0.6182:0.1869	.	.	.	.	Q	699	ENSP00000315160:E699Q	ENSP00000315160:E699Q	E	+	1	0	TTC12	112744171	0.005000	0.15991	0.000000	0.03702	0.020000	0.10135	0.989000	0.29629	0.245000	0.21373	0.655000	0.94253	GAA	TTC12	-	NULL		0.507	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC12	HGNC	protein_coding	OTTHUMT00000286455.2	G	NM_017868		113238961	+1	no_errors	ENST00000314756	ensembl	human	known	70_37	missense	SNP	0.000	C
CFAP70	118491	genome.wustl.edu	37	10	75072284	75072284	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:75072284C>G	ENST00000310715.3	-	11	1360	c.1240G>C	c.(1240-1242)Gat>Cat	p.D414H	TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000394865.1_Missense_Mutation_p.D414H|TTC18_ENST00000401621.2_Missense_Mutation_p.D414H|TTC18_ENST00000493787.1_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		414						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ACTGGTTTATCTTCTTTCAGA	0.388																																																	0													168.0	162.0	164.0					10																	75072284		2203	4300	6503	SO:0001583	missense	118491																														ENST00000310715.3:c.1240G>C	10.37:g.75072284C>G	ENSP00000310829:p.Asp414His	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D414H	ENST00000310715.3	37	c.1240	CCDS7324.3	10	.	.	.	.	.	.	.	.	.	.	C	19.13	3.766965	0.69878	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000372928;ENST00000394865	T;T;T	0.32515	1.87;1.87;1.45	4.94	4.94	0.65067	.	0.526470	0.19324	N	0.117057	T	0.41880	0.1178	L	0.44542	1.39	0.41503	D	0.988296	D;D	0.59767	0.986;0.976	P;P	0.56434	0.798;0.602	T	0.31503	-0.9941	10	0.72032	D	0.01	-6.6498	14.026	0.64586	0.0:1.0:0.0:0.0	.	414;414	Q5T0N1-2;Q5T0N1	.;TTC18_HUMAN	H	414	ENSP00000310829:D414H;ENSP00000384479:D414H;ENSP00000378334:D414H	ENSP00000310829:D414H	D	-	1	0	TTC18	74742290	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	3.748000	0.55142	2.438000	0.82558	0.591000	0.81541	GAT	TTC18	-	NULL		0.388	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC18	HGNC	protein_coding		C			75072284	-1	no_errors	ENST00000310715	ensembl	human	known	70_37	missense	SNP	1.000	G
TTC21B	79809	genome.wustl.edu	37	2	166740408	166740408	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:166740408C>T	ENST00000243344.7	-	26	3717	c.3580G>A	c.(3580-3582)Gaa>Aaa	p.E1194K	TTC21B_ENST00000536175.1_Missense_Mutation_p.E132K	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1194					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCAAACTCTTCAGCATCAATA	0.423																																																	0													174.0	171.0	172.0					2																	166740408		2203	4300	6503	SO:0001583	missense	79809			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3580G>A	2.37:g.166740408C>T	ENSP00000243344:p.Glu1194Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E1194K	ENST00000243344.7	37	c.3580	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.736328	0.96865	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.66099	-0.19;0.06	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.090054	0.85682	D	0.000000	T	0.72342	0.3448	M	0.82630	2.6	0.80722	D	1	P	0.41313	0.745	B	0.44278	0.445	T	0.73616	-0.3926	10	0.40728	T	0.16	-13.499	19.6951	0.96022	0.0:1.0:0.0:0.0	.	1194	Q7Z4L5	TT21B_HUMAN	K	132;1194	ENSP00000438692:E132K;ENSP00000243344:E1194K	ENSP00000243344:E1194K	E	-	1	0	TTC21B	166448654	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.776000	0.85560	2.728000	0.93425	0.585000	0.79938	GAA	TTC21B	-	pfscan_TPR-contain_dom		0.423	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	C	NM_024753		166740408	-1	no_errors	ENST00000243344	ensembl	human	known	70_37	missense	SNP	1.000	T
TTC30B	150737	genome.wustl.edu	37	2	178416151	178416151	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:178416151G>A	ENST00000408939.3	-	1	1591	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	447					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CAGATTTGCGGAAGATCTTTT	0.383																																																	0													354.0	362.0	359.0					2																	178416151		2203	4300	6503	SO:0001819	synonymous_variant	150737			AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1341C>T	2.37:g.178416151G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q63HQ1|Q96NE6	Silent	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.F447	ENST00000408939.3	37	c.1341	CCDS42784.1	2																																																																																			TTC30B	-	smart_TPR_repeat		0.383	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30B	HGNC	protein_coding	OTTHUMT00000334193.2	G	NM_152517		178416151	-1	no_errors	ENST00000408939	ensembl	human	known	70_37	silent	SNP	1.000	A
TTC4	7268	genome.wustl.edu	37	1	55197170	55197170	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:55197170C>T	ENST00000371281.3	+	7	780	c.693C>T	c.(691-693)atC>atT	p.I231I	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	231										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						CTAGGAATATCAGGCTCTCAG	0.458																																																	0													55.0	50.0	52.0					1																	55197170		2203	4300	6503	SO:0001819	synonymous_variant	7268				CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"""Tetratricopeptide (TTC) repeat domain containing"""	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.693C>T	1.37:g.55197170C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53Y95|Q5TA96|Q9H3I2	Silent	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.I231	ENST00000371281.3	37	c.693	CCDS596.1	1																																																																																			TTC4	-	NULL		0.458	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC4	HGNC	protein_coding	OTTHUMT00000027432.1	C	NM_004623		55197170	+1	no_errors	ENST00000371281	ensembl	human	known	70_37	silent	SNP	1.000	T
TTL	150465	genome.wustl.edu	37	2	113286340	113286340	+	Missense_Mutation	SNP	C	C	G	rs549319256		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:113286340C>G	ENST00000233336.6	+	7	1293	c.1102C>G	c.(1102-1104)Cag>Gag	p.Q368E	TTL_ENST00000460450.1_3'UTR	NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	368	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		GGAGCAACCTCAGACCCAGCC	0.532			T	ETV6	ALL								C|||	1	0.000199681	0.0008	0.0	5008	,	,		18387	0.0		0.0	False		,,,				2504	0.0							Dom	yes		2	2q13	150465	tubulin tyrosine ligase		L	0													98.0	91.0	94.0					2																	113286340		2203	4300	6503	SO:0001583	missense	150465				CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.1102C>G	2.37:g.113286340C>G	ENSP00000233336:p.Gln368Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q585T3|Q7Z302|Q8N426	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.Q368E	ENST00000233336.6	37	c.1102	CCDS2096.1	2	.	.	.	.	.	.	.	.	.	.	C	1.311	-0.602276	0.03744	.	.	ENSG00000114999	ENST00000233336	T	0.07908	3.15	4.8	4.8	0.61643	.	1.906560	0.02369	N	0.077658	T	0.06462	0.0166	N	0.03608	-0.345	0.09310	N	1	B	0.18741	0.03	B	0.18263	0.021	T	0.35919	-0.9769	10	0.15952	T	0.53	.	16.7871	0.85576	0.0:1.0:0.0:0.0	.	368	Q8NG68	TTL_HUMAN	E	368	ENSP00000233336:Q368E	ENSP00000233336:Q368E	Q	+	1	0	TTL	113002811	0.981000	0.34729	0.007000	0.13788	0.068000	0.16541	2.031000	0.41117	2.469000	0.83416	0.650000	0.86243	CAG	TTL	-	NULL		0.532	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTL	HGNC	protein_coding	OTTHUMT00000254085.2	C	NM_153712		113286340	+1	no_errors	ENST00000233336	ensembl	human	known	70_37	missense	SNP	0.019	G
TTL	150465	genome.wustl.edu	37	2	113286901	113286901	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:113286901C>T	ENST00000233336.6	+	0	1854				TTL_ENST00000460450.1_3'UTR	NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase						cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AAGGTGGTTTCCCTCATCACC	0.522			T	ETV6	ALL																																			Dom	yes		2	2q13	150465	tubulin tyrosine ligase		L	0																																										SO:0001624	3_prime_UTR_variant	150465				CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.*529C>T	2.37:g.113286901C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q585T3|Q7Z302|Q8N426	RNA	SNP	-	NULL	ENST00000233336.6	37	NULL	CCDS2096.1	2																																																																																			TTL	-	-		0.522	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTL	HGNC	protein_coding	OTTHUMT00000254085.2	C	NM_153712		113286901	+1	no_errors	ENST00000460450	ensembl	human	known	70_37	rna	SNP	0.000	T
TTL	150465	genome.wustl.edu	37	2	113288821	113288821	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:113288821C>T	ENST00000233336.6	+	0	3774				TTL_ENST00000460450.1_3'UTR	NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase						cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		GGCTCCCAGTCAGGCTTCATA	0.433			T	ETV6	ALL																																			Dom	yes		2	2q13	150465	tubulin tyrosine ligase		L	0																																										SO:0001624	3_prime_UTR_variant	150465				CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.*2449C>T	2.37:g.113288821C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q585T3|Q7Z302|Q8N426	RNA	SNP	-	NULL	ENST00000233336.6	37	NULL	CCDS2096.1	2																																																																																			TTL	-	-		0.433	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTL	HGNC	protein_coding	OTTHUMT00000254085.2	C	NM_153712		113288821	+1	no_errors	ENST00000460450	ensembl	human	known	70_37	rna	SNP	0.007	T
TTL	150465	genome.wustl.edu	37	2	113288911	113288911	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:113288911C>T	ENST00000233336.6	+	0	3864				TTL_ENST00000460450.1_3'UTR	NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase						cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		aatcatggttctgtcatttga	0.483			T	ETV6	ALL																																			Dom	yes		2	2q13	150465	tubulin tyrosine ligase		L	0																																										SO:0001624	3_prime_UTR_variant	150465				CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.*2539C>T	2.37:g.113288911C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q585T3|Q7Z302|Q8N426	RNA	SNP	-	NULL	ENST00000233336.6	37	NULL	CCDS2096.1	2																																																																																			TTL	-	-		0.483	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTL	HGNC	protein_coding	OTTHUMT00000254085.2	C	NM_153712		113288911	+1	no_errors	ENST00000460450	ensembl	human	known	70_37	rna	SNP	0.002	T
TTLL10	254173	genome.wustl.edu	37	1	1109679	1109679	+	5'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:1109679G>A	ENST00000379290.1	+	0	58				TTLL10_ENST00000506177.1_Intron|TTLL10_ENST00000379289.1_5'UTR|TTLL10-AS1_ENST00000379317.1_RNA			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10						cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCCGGCCGGGAGGCACCAGC	0.637																																																	0																																										SO:0001623	5_prime_UTR_variant	100506376			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.-116G>A	1.37:g.1109679G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	RNA	SNP	-	NULL	ENST00000379290.1	37	NULL	CCDS44036.1	1																																																																																			TTLL10-AS1	-	-		0.637	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10-AS1	HGNC	protein_coding	OTTHUMT00000002421.3	G	NM_153254		1109679	-1	no_errors	ENST00000379317	ensembl	human	known	70_37	rna	SNP	0.001	A
TTLL11	158135	genome.wustl.edu	37	9	124751992	124751992	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:124751992C>G	ENST00000373776.3	-	4	1208	c.1021G>C	c.(1021-1023)Gat>Cat	p.D341H	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000321582.5_Missense_Mutation_p.D341H	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	341	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CAACCACCATCAGGTTTCACG	0.527																																																	0													119.0	128.0	125.0					9																	124751992		2203	4300	6503	SO:0001583	missense	158135			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1021G>C	9.37:g.124751992C>G	ENSP00000362881:p.Asp341His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.D341H	ENST00000373776.3	37	c.1021	CCDS6834.2	9	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165951	0.78339	.	.	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.05447	3.44;3.44	4.89	4.89	0.63831	.	0.125081	0.51477	D	0.000100	T	0.30823	0.0777	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.17289	-1.0374	10	0.62326	D	0.03	.	17.1382	0.86745	0.0:1.0:0.0:0.0	.	341;341	F8W6M1;Q8NHH1	.;TTL11_HUMAN	H	341	ENSP00000321346:D341H;ENSP00000362881:D341H	ENSP00000321346:D341H	D	-	1	0	TTLL11	123791813	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	7.484000	0.81180	2.283000	0.76528	0.549000	0.68633	GAT	TTLL11	-	pfam_Tub_tyr_ligase		0.527	TTLL11-004	KNOWN	basic|CCDS	protein_coding	TTLL11	HGNC	protein_coding	OTTHUMT00000053907.1	C	XM_088486		124751992	-1	no_errors	ENST00000321582	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179396953	179396953	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179396953C>G	ENST00000591111.1	-	308	99690	c.99466G>C	c.(99466-99468)Gaa>Caa	p.E33156Q	TTN_ENST00000589042.1_Missense_Mutation_p.E34797Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25732Q|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32229Q|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25857Q|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25924Q|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589355.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33156					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAGACTTTTCCTCCTTTGAC	0.413																																																	0													140.0	127.0	131.0					2																	179396953		1931	4132	6063	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.99466G>C	2.37:g.179396953C>G	ENSP00000465570:p.Glu33156Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E32229Q	ENST00000591111.1	37	c.96685		2	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074440	0.55646	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64618	-0.11;0.14;0.11;0.1	5.55	5.55	0.83447	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.55146	0.1902	N	0.19112	0.55	0.49582	D	0.999809	B;B;B;B	0.34329	0.449;0.449;0.449;0.449	B;B;B;B	0.38842	0.169;0.169;0.283;0.283	T	0.60301	-0.7290	9	0.87932	D	0	.	19.1016	0.93276	0.0:1.0:0.0:0.0	.	25732;25857;25924;33156	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	32229;25732;25924;25857;25729	ENSP00000343764:E32229Q;ENSP00000434586:E25732Q;ENSP00000340554:E25924Q;ENSP00000352154:E25857Q	ENSP00000340554:E25924Q	E	-	1	0	TTN	179105199	1.000000	0.71417	0.989000	0.46669	0.776000	0.43924	5.640000	0.67875	2.611000	0.88343	0.650000	0.86243	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179396953	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179416909	179416909	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179416909C>T	ENST00000591111.1	-	285	86019	c.85795G>A	c.(85795-85797)Gat>Aat	p.D28599N	TTN_ENST00000589042.1_Missense_Mutation_p.D30240N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D21175N|TTN_ENST00000342992.6_Missense_Mutation_p.D27672N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D21300N|TTN_ENST00000342175.6_Missense_Mutation_p.D21367N|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28599	Fibronectin type-III 108. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGACACTATCAGCCTTGATT	0.443																																																	0													144.0	141.0	142.0					2																	179416909		1941	4143	6084	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85795G>A	2.37:g.179416909C>T	ENSP00000465570:p.Asp28599Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D27672N	ENST00000591111.1	37	c.83014		2	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456784	0.63401	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.9	5.9	0.94986	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61362	0.2341	L	0.45228	1.405	0.48135	D	0.999599	D;D;D;D	0.57571	0.961;0.961;0.961;0.98	P;P;P;P	0.53224	0.721;0.721;0.721;0.721	T	0.62511	-0.6839	9	0.87932	D	0	.	20.2822	0.98520	0.0:1.0:0.0:0.0	.	21175;21300;21367;28599	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	27672;21175;21367;21300;21172	ENSP00000343764:D27672N;ENSP00000434586:D21175N;ENSP00000340554:D21367N;ENSP00000352154:D21300N	ENSP00000340554:D21367N	D	-	1	0	TTN	179125155	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.151000	0.58105	2.806000	0.96561	0.655000	0.94253	GAT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179416909	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179433331	179433331	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179433331C>G	ENST00000591111.1	-	276	72829	c.72605G>C	c.(72604-72606)aGa>aCa	p.R24202T	TTN_ENST00000589042.1_Missense_Mutation_p.R25843T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16778T|TTN_ENST00000342992.6_Missense_Mutation_p.R23275T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16903T|TTN_ENST00000342175.6_Missense_Mutation_p.R16970T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24202	Ig-like 121.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACATTGATTCTTGTGGTCTG	0.423																																																	0													233.0	214.0	220.0					2																	179433331		1929	4140	6069	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72605G>C	2.37:g.179433331C>G	ENSP00000465570:p.Arg24202Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R23275T	ENST00000591111.1	37	c.69824		2	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911163	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	6.03	5.15	0.70609	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73071	0.3540	M	0.93062	3.375	0.58432	D	0.999992	D;D;D;D	0.58268	0.982;0.982;0.982;0.967	P;P;P;P	0.59825	0.864;0.864;0.864;0.76	T	0.81366	-0.0965	9	0.87932	D	0	.	15.6966	0.77506	0.0:0.934:0.0:0.066	.	16778;16903;16970;24202	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	23275;16778;16970;16903;16776	ENSP00000343764:R23275T;ENSP00000434586:R16778T;ENSP00000340554:R16970T;ENSP00000352154:R16903T	ENSP00000340554:R16970T	R	-	2	0	TTN	179141577	1.000000	0.71417	0.975000	0.42487	0.971000	0.66376	7.818000	0.86416	1.524000	0.49035	0.655000	0.94253	AGA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179433331	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179440066	179440066	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179440066C>A	ENST00000591111.1	-	276	66094	c.65870G>T	c.(65869-65871)gGa>gTa	p.G21957V	TTN_ENST00000589042.1_Missense_Mutation_p.G23598V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14533V|TTN_ENST00000342992.6_Missense_Mutation_p.G21030V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14658V|TTN_ENST00000342175.6_Missense_Mutation_p.G14725V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21957	Fibronectin type-III 59. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATTCCTCTCCTTCAGTTAG	0.493																																																	0													85.0	83.0	84.0					2																	179440066		2027	4189	6216	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65870G>T	2.37:g.179440066C>A	ENSP00000465570:p.Gly21957Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G21030V	ENST00000591111.1	37	c.63089		2	.	.	.	.	.	.	.	.	.	.	C	9.789	1.177413	0.21787	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80649	0.4663	H	0.94734	3.575	0.54753	D	0.999987	D;D;D;D	0.69078	0.996;0.996;0.996;0.997	P;P;P;P	0.61874	0.895;0.895;0.895;0.895	D	0.84225	0.0463	9	0.87932	D	0	.	7.3233	0.26540	0.0:0.798:0.0:0.202	.	14533;14658;14725;21957	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	21030;14533;14725;14658;14531	ENSP00000343764:G21030V;ENSP00000434586:G14533V;ENSP00000340554:G14725V;ENSP00000352154:G14658V	ENSP00000340554:G14725V	G	-	2	0	TTN	179148312	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	3.863000	0.56016	2.651000	0.90000	0.585000	0.79938	GGA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.493	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179440066	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.999	A
TTN	7273	genome.wustl.edu	37	2	179444734	179444734	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179444734C>G	ENST00000591111.1	-	268	62581	c.62357G>C	c.(62356-62358)cGa>cCa	p.R20786P	TTN_ENST00000589042.1_Missense_Mutation_p.R22427P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13362P|TTN_ENST00000342992.6_Missense_Mutation_p.R19859P|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13487P|TTN_ENST00000342175.6_Missense_Mutation_p.R13554P|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20786	Fibronectin type-III 50. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCAAACACTCGGAAGAAGTA	0.453																																																	0													146.0	140.0	142.0					2																	179444734		1914	4122	6036	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62357G>C	2.37:g.179444734C>G	ENSP00000465570:p.Arg20786Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R19859P	ENST00000591111.1	37	c.59576		2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379903	0.42207	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.09	5.09	0.68999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87759	0.6258	H	0.99752	4.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.93484	0.6830	9	0.87932	D	0	.	18.8502	0.92225	0.0:1.0:0.0:0.0	.	13362;13487;13554;20786	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	19859;13362;13554;13487;13360	ENSP00000343764:R19859P;ENSP00000434586:R13362P;ENSP00000340554:R13554P;ENSP00000352154:R13487P	ENSP00000340554:R13554P	R	-	2	0	TTN	179152980	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	7.776000	0.85560	2.529000	0.85273	0.313000	0.20887	CGA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179444734	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179463734	179463734	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179463734C>G	ENST00000591111.1	-	241	52004	c.51780G>C	c.(51778-51780)atG>atC	p.M17260I	TTN_ENST00000589042.1_Missense_Mutation_p.M18901I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M9836I|TTN_ENST00000342992.6_Missense_Mutation_p.M16333I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M9961I|TTN_ENST00000342175.6_Missense_Mutation_p.M10028I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17260	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTGACAGTCATGGAGTTAC	0.418																																																	0													59.0	57.0	57.0					2																	179463734		1880	4108	5988	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51780G>C	2.37:g.179463734C>G	ENSP00000465570:p.Met17260Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.M16333I	ENST00000591111.1	37	c.48999		2	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086433	0.55861	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48892	0.1525	N	0.13198	0.31	0.80722	D	1	P;P;P;P	0.44195	0.704;0.704;0.704;0.828	B;B;B;P	0.47251	0.388;0.388;0.388;0.542	T	0.54118	-0.8341	9	0.87932	D	0	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	9836;9961;10028;17260	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	16333;9836;10028;9961;9834	ENSP00000343764:M16333I;ENSP00000434586:M9836I;ENSP00000340554:M10028I;ENSP00000352154:M9961I	ENSP00000340554:M10028I	M	-	3	0	TTN	179171979	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.077000	0.71275	2.843000	0.97960	0.650000	0.86243	ATG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179463734	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179465782	179465782	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179465782C>G	ENST00000591111.1	-	238	51150	c.50926G>C	c.(50926-50928)Gag>Cag	p.E16976Q	TTN_ENST00000589042.1_Missense_Mutation_p.E18617Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E9552Q|TTN_ENST00000342992.6_Missense_Mutation_p.E16049Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E9677Q|TTN_ENST00000342175.6_Missense_Mutation_p.E9744Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16976	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAGGCACTCAACAATATAG	0.468																																																	0													103.0	103.0	103.0					2																	179465782		1978	4173	6151	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50926G>C	2.37:g.179465782C>G	ENSP00000465570:p.Glu16976Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E16049Q	ENST00000591111.1	37	c.48145		2	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914156	0.52546	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72374	0.3452	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.73173	-0.4066	9	0.87932	D	0	.	20.0781	0.97751	0.0:1.0:0.0:0.0	.	9552;9677;9744;16976	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	16049;9552;9744;9677;9552	ENSP00000343764:E16049Q;ENSP00000434586:E9552Q;ENSP00000340554:E9744Q;ENSP00000352154:E9677Q	ENSP00000340554:E9744Q	E	-	1	0	TTN	179174027	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.713000	0.84693	2.817000	0.96982	0.563000	0.77884	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179465782	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179470335	179470335	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179470335C>A	ENST00000591111.1	-	229	48988	c.48764G>T	c.(48763-48765)gGa>gTa	p.G16255V	TTN_ENST00000589042.1_Missense_Mutation_p.G17896V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8831V|TTN_ENST00000342992.6_Missense_Mutation_p.G15328V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8956V|TTN_ENST00000342175.6_Missense_Mutation_p.G9023V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16255	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGATATATCCTTGGATGGG	0.448																																																	0													134.0	130.0	132.0					2																	179470335		1938	4121	6059	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48764G>T	2.37:g.179470335C>A	ENSP00000465570:p.Gly16255Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G15328V	ENST00000591111.1	37	c.45983		2	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682930	0.47991	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.87	5.87	0.94306	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84938	0.5583	H	0.95884	3.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.88846	0.3316	9	0.87932	D	0	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	8831;8956;9023;16255	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	15328;8831;9023;8956;8831	ENSP00000343764:G15328V;ENSP00000434586:G8831V;ENSP00000340554:G9023V;ENSP00000352154:G8956V	ENSP00000340554:G9023V	G	-	2	0	TTN	179178580	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.770000	0.85390	2.780000	0.95670	0.655000	0.94253	GGA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179470335	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179479247	179479247	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179479247C>T	ENST00000591111.1	-	211	44295	c.44071G>A	c.(44071-44073)Gag>Aag	p.E14691K	TTN_ENST00000589042.1_Missense_Mutation_p.E16332K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7267K|TTN_ENST00000342992.6_Missense_Mutation_p.E13764K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7392K|TTN_ENST00000342175.6_Missense_Mutation_p.E7459K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin	14691	Ig-like 96.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACAGCCTCAATGATATAT	0.418																																																	0													96.0	92.0	93.0					2																	179479247		1975	4138	6113	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44071G>A	2.37:g.179479247C>T	ENSP00000465570:p.Glu14691Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E13764K	ENST00000591111.1	37	c.41290		2	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030797	0.54790	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.77	5.77	0.91146	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73265	0.3565	L	0.33753	1.03	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.74538	-0.3632	9	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	7267;7392;7459;14691	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	13764;7267;7459;7392;7267	ENSP00000343764:E13764K;ENSP00000434586:E7267K;ENSP00000340554:E7459K;ENSP00000352154:E7392K	ENSP00000340554:E7459K	E	-	1	0	TTN	179187492	1.000000	0.71417	0.974000	0.42286	0.804000	0.45430	7.704000	0.84595	2.885000	0.99019	0.655000	0.94253	GAG	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179479247	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179522671	179522671	+	Intron	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179522671C>A	ENST00000591111.1	-	154	34579				TTN_ENST00000589042.1_Missense_Mutation_p.V12604F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGGACAACTTCTTGAGCT	0.403																																																	0													1.0	1.0	1.0					2																	179522671		396	1009	1405	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34354+760G>T	2.37:g.179522671C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V12604F	ENST00000591111.1	37	c.37810		2	.	.	.	.	.	.	.	.	.	.	c	17.67	3.446931	0.63178	.	.	ENSG00000155657	ENST00000541862	.	.	.	3.35	0.79	0.18613	.	.	.	.	.	T	0.26629	0.0651	.	.	.	0.22127	N	0.999346	P	0.40476	0.718	B	0.39379	0.298	T	0.11891	-1.0569	7	0.48119	T	0.1	.	5.2187	0.15356	0.0:0.6093:0.0:0.3907	.	824	Q71S18	.	F	824	.	ENSP00000445986:V824F	V	-	1	0	TTN	179230916	.	.	0.032000	0.17829	0.928000	0.56348	.	.	0.044000	0.15775	0.411000	0.27672	GTT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179522671	-1	no_errors	ENST00000589042	ensembl	human	putative	70_37	missense	SNP	0.268	A
TTN	7273	genome.wustl.edu	37	2	179528238	179528238	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179528238C>T	ENST00000591111.1	-	154	34489				TTN_ENST00000589042.1_Missense_Mutation_p.E12180K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGGAGCCTCAGGCACTTGA	0.413																																																	0													69.0	73.0	71.0					2																	179528238		876	1989	2865	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265-4717G>A	2.37:g.179528238C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E12180K	ENST00000591111.1	37	c.36538		2	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181181	0.57800	.	.	ENSG00000155657	ENST00000541862;ENST00000392423	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	T	0.76378	0.3979	.	.	.	0.45515	D	0.998474	D	0.89917	1.0	D	0.80764	0.994	T	0.76745	-0.2846	7	0.42905	T	0.14	.	12.4076	0.55449	0.1685:0.8315:0.0:0.0	.	454	Q71S18	.	K	454;306	.	ENSP00000376219:E306K	E	-	1	0	TTN	179236483	0.851000	0.29673	0.269000	0.24586	0.963000	0.63663	3.777000	0.55364	2.240000	0.73641	0.423000	0.28283	GAG	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179528238	-1	no_errors	ENST00000589042	ensembl	human	putative	70_37	missense	SNP	0.274	T
TTN	7273	genome.wustl.edu	37	2	179582334	179582334	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179582334C>G	ENST00000591111.1	-	85	24540	c.24316G>C	c.(24316-24318)Gac>Cac	p.D8106H	TTN_ENST00000589042.1_Missense_Mutation_p.D8423H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D7179H|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12297	Ig-like 63.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCTCTGGTCAGTTTGTAAA	0.418																																																	0													76.0	77.0	77.0					2																	179582334		1879	4115	5994	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24316G>C	2.37:g.179582334C>G	ENSP00000465570:p.Asp8106His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D7179H	ENST00000591111.1	37	c.21535		2	.	.	.	.	.	.	.	.	.	.	C	8.437	0.849884	0.17034	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	5.51	4.64	0.57946	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68696	0.3029	M	0.68593	2.085	0.80722	D	1	P	0.42649	0.786	P	0.46825	0.528	T	0.71842	-0.4470	9	0.87932	D	0	.	8.9991	0.36069	0.0:0.7648:0.0:0.2352	.	8106	Q8WZ42	TITIN_HUMAN	H	7179	ENSP00000343764:D7179H	ENSP00000343764:D7179H	D	-	1	0	TTN	179290579	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.614000	0.46359	1.463000	0.47967	0.655000	0.94253	GAC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179582334	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.999	G
TTN	7273	genome.wustl.edu	37	2	179585914	179585914	+	Missense_Mutation	SNP	A	A	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179585914A>C	ENST00000591111.1	-	77	22105	c.21881T>G	c.(21880-21882)gTt>gGt	p.V7294G	TTN_ENST00000589042.1_Missense_Mutation_p.V7611G|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6367G|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12859	Ig-like 55.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAATTTCTTAACAAACTTTGG	0.348																																																	0													43.0	39.0	40.0					2																	179585914		1797	4064	5861	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21881T>G	2.37:g.179585914A>C	ENSP00000465570:p.Val7294Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V6367G	ENST00000591111.1	37	c.19100		2	.	.	.	.	.	.	.	.	.	.	A	9.277	1.047279	0.19827	.	.	ENSG00000155657	ENST00000342992	T	0.44482	0.92	5.86	4.71	0.59529	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57829	0.2080	M	0.93808	3.46	0.80722	D	1	P	0.35363	0.497	B	0.39503	0.301	T	0.65524	-0.6147	9	0.87932	D	0	.	11.9742	0.53081	0.9326:0.0:0.0674:0.0	.	7294	Q8WZ42	TITIN_HUMAN	G	6367	ENSP00000343764:V6367G	ENSP00000343764:V6367G	V	-	2	0	TTN	179294159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.997000	0.57016	1.157000	0.42530	0.528000	0.53228	GTT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like		0.348	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179585914	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179635314	179635314	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179635314G>A	ENST00000591111.1	-	35	8429	c.8205C>T	c.(8203-8205)gtC>gtT	p.V2735V	TTN_ENST00000589042.1_Silent_p.V2735V|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Silent_p.V2689V|TTN_ENST00000342992.6_Silent_p.V2735V|TTN_ENST00000360870.5_Silent_p.V2735V|TTN_ENST00000359218.5_Silent_p.V2689V|TTN_ENST00000342175.6_Silent_p.V2689V			Q8WZ42	TITIN_HUMAN	titin	13062					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGACACCTTTGACATTAGGGT	0.388																																																	0													162.0	159.0	160.0					2																	179635314		2203	4300	6503	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8205C>T	2.37:g.179635314G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V2735	ENST00000591111.1	37	c.8205		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179635314	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.998	A
TTN	7273	genome.wustl.edu	37	2	179641355	179641355	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179641355C>G	ENST00000591111.1	-	28	5460	c.5236G>C	c.(5236-5238)Gaa>Caa	p.E1746Q	TTN_ENST00000589042.1_Missense_Mutation_p.E1746Q|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E1700Q|TTN_ENST00000342992.6_Missense_Mutation_p.E1746Q|TTN_ENST00000360870.5_Missense_Mutation_p.E1746Q|TTN_ENST00000359218.5_Missense_Mutation_p.E1700Q|TTN_ENST00000342175.6_Missense_Mutation_p.E1700Q			Q8WZ42	TITIN_HUMAN	titin	12578	Ig-like 8.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGCTGCTTCAAGTGGCTTT	0.493																																																	0													65.0	59.0	61.0					2																	179641355		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5236G>C	2.37:g.179641355C>G	ENSP00000465570:p.Glu1746Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E1746Q	ENST00000591111.1	37	c.5236		2	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591310	0.28357	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.05	5.05	0.67936	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72574	0.3477	N	0.21194	0.64	0.33015	D	0.528119	P;P;D;D;D	0.76494	0.891;0.891;0.984;0.984;0.999	P;P;P;P;D	0.68943	0.741;0.741;0.855;0.855;0.961	T	0.79936	-0.1593	9	0.87932	D	0	.	18.3911	0.90484	0.0:1.0:0.0:0.0	.	1700;1700;1700;1746;1746	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	1746;1700;1700;1700;1700;1746	ENSP00000343764:E1746Q;ENSP00000434586:E1700Q;ENSP00000340554:E1700Q;ENSP00000352154:E1700Q;ENSP00000354117:E1746Q	ENSP00000340554:E1700Q	E	-	1	0	TTN	179349600	1.000000	0.71417	0.995000	0.50966	0.748000	0.42578	7.688000	0.84153	2.363000	0.80096	0.561000	0.74099	GAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.493	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179641355	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179462626	179462626	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179462626G>C	ENST00000591111.1	-	243	52564				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGAAGGATTGATAATTACCA	0.378																																																	0													135.0	129.0	131.0					2																	179462626		1905	4122	6027	SO:0001627	intron_variant	100506866			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52339+8C>G	2.37:g.179462626G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	RNA	SNP	-	NULL	ENST00000591111.1	37	NULL		2																																																																																			TTN-AS1	-	-		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN-AS1	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179462626	+1	no_errors	ENST00000592689	ensembl	human	known	70_37	rna	SNP	0.000	C
TTN	7273	genome.wustl.edu	37	2	179666893	179666893	+	Silent	SNP	C	C	T	rs577716745		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179666893C>T	ENST00000591111.1	-	3	491	c.267G>A	c.(265-267)gcG>gcA	p.A89A	TTN_ENST00000589042.1_Silent_p.A89A|TTN_ENST00000460472.2_Silent_p.A89A|TTN_ENST00000342992.6_Silent_p.A89A|TTN_ENST00000360870.5_Silent_p.A89A|TTN_ENST00000359218.5_Silent_p.A89A|TTN_ENST00000342175.6_Silent_p.A89A			Q8WZ42	TITIN_HUMAN	titin	32701	Ig-like 1.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTACTAGTCGCTTGTCCAG	0.547													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17614	0.0		0.0	False		,,,				2504	0.0																0													163.0	146.0	152.0					2																	179666893		2203	4300	6503	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.267G>A	2.37:g.179666893C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A89	ENST00000591111.1	37	c.267		2																																																																																			TTN	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.547	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179666893	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.997	T
TUBA1C	84790	genome.wustl.edu	37	12	49666945	49666945	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:49666945G>C	ENST00000301072.6	+	4	1560	c.1285G>C	c.(1285-1287)Gag>Cag	p.E429Q	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Missense_Mutation_p.E499Q	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	429					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						GGCTGCCCTTGAGAAGGATTA	0.517																																																	0													128.0	121.0	124.0					12																	49666945		2203	4300	6503	SO:0001583	missense	84790			BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.1285G>C	12.37:g.49666945G>C	ENSP00000301072:p.Glu429Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.E429Q	ENST00000301072.6	37	c.1285	CCDS8782.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.99|16.99	3.272803|3.272803	0.59649|0.59649	.|.	.|.	ENSG00000167553|ENSG00000167553	ENST00000541364;ENST00000301072|ENST00000321665	D;D|.	0.84223|.	-1.82;-1.82|.	4.89|4.89	4.89|4.89	0.63831|0.63831	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78855|0.78855	0.4349|0.4349	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.83275|.	0.973;0.996|.	T|T	0.82053|0.82053	-0.0648|-0.0648	10|6	0.87932|0.87932	D|D	0|0	.|.	17.7706|17.7706	0.88491|0.88491	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	499;429|.	F5H5D3;Q9BQE3|.	.;TBA1C_HUMAN|.	Q|F	499;429|270	ENSP00000443475:E499Q;ENSP00000301072:E429Q|.	ENSP00000301072:E429Q|ENSP00000322707:L270F	E|L	+|+	1|3	0|2	TUBA1C|TUBA1C	47953212|47953212	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.998000|0.998000	0.95712|0.95712	9.684000|9.684000	0.98659|0.98659	2.666000|2.666000	0.90696|0.90696	0.556000|0.556000	0.70494|0.70494	GAG|TTG	TUBA1C	-	superfamily_Tub_FtsZ_C,prints_Alpha_tubulin		0.517	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA1C	HGNC	protein_coding	OTTHUMT00000404424.1	G	NM_032704		49666945	+1	no_errors	ENST00000301072	ensembl	human	known	70_37	missense	SNP	1.000	C
TUBB	203068	genome.wustl.edu	37	6	30691419	30691419	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:30691419G>C	ENST00000327892.8	+	4	886	c.580G>C	c.(580-582)Gag>Cag	p.E194Q	XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000396384.1_Missense_Mutation_p.E122Q|TUBB_ENST00000435534.1_Intron|TUBB_ENST00000330914.3_Missense_Mutation_p.E122Q|TUBB_ENST00000396389.1_Missense_Mutation_p.E176Q	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	194					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TCAGTTGGTAGAGAATACTGA	0.512																																																	0													96.0	84.0	88.0					6																	30691419		2203	4300	6503	SO:0001583	missense	203068			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.580G>C	6.37:g.30691419G>C	ENSP00000339001:p.Glu194Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	P05218|Q8WUC1|Q9CY33	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.E194Q	ENST00000327892.8	37	c.580	CCDS4687.1	6	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027464	0.54683	.	.	ENSG00000196230	ENST00000327892;ENST00000422827;ENST00000330914;ENST00000396389;ENST00000396384;ENST00000538863	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	4.51	4.51	0.55191	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.83677	0.5306	M	0.89030	3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.86960	0.2091	10	0.87932	D	0	.	14.7358	0.69414	0.0:0.0:1.0:0.0	.	194;194	P07437;F8VW92	TBB5_HUMAN;.	Q	194;103;122;176;122;48	ENSP00000339001:E194Q;ENSP00000365578:E122Q;ENSP00000379672:E176Q;ENSP00000379668:E122Q	ENSP00000339001:E194Q	E	+	1	0	TUBB	30799398	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.323000	0.96364	2.330000	0.79161	0.491000	0.48974	GAG	TUBB	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Gamma_tubulin,prints_Delta_tubulin		0.512	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB	HGNC	protein_coding	OTTHUMT00000076074.2	G	NM_178014		30691419	+1	no_errors	ENST00000327892	ensembl	human	known	70_37	missense	SNP	1.000	C
TUBB4A	10382	genome.wustl.edu	37	19	6495204	6495204	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:6495204C>G	ENST00000264071.2	-	4	1677	c.1306G>C	c.(1306-1308)Gag>Cag	p.E436Q	TUBB4A_ENST00000540257.1_Missense_Mutation_p.E436Q|CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	436					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										GCCTCCTCCTCGAACTCGCCC	0.622																																																	0													71.0	65.0	67.0					19																	6495204		2203	4300	6503	SO:0001583	missense	10382			AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1306G>C	19.37:g.6495204C>G	ENSP00000264071:p.Glu436Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQP4|Q969E5	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin	p.E436Q	ENST00000264071.2	37	c.1306	CCDS12168.1	19	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781932	0.31502	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	T;T	0.71934	-0.61;-0.61	3.13	3.13	0.36017	.	0.000000	0.64402	U	0.000006	T	0.78792	0.4339	M	0.87456	2.885	0.50171	D	0.999856	P	0.44281	0.831	P	0.47786	0.557	D	0.83948	0.0315	10	0.87932	D	0	.	13.3769	0.60743	0.0:1.0:0.0:0.0	.	436	P04350	TBB4A_HUMAN	Q	436;436;354	ENSP00000264071:E436Q;ENSP00000443590:E436Q	ENSP00000264071:E436Q	E	-	1	0	TUBB4	6446204	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	5.921000	0.70028	1.473000	0.48159	0.306000	0.20318	GAG	TUBB4A	-	prints_Alpha_tubulin		0.622	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB4A	HGNC	protein_coding	OTTHUMT00000457841.1	C	NM_006087		6495204	-1	no_errors	ENST00000264071	ensembl	human	known	70_37	missense	SNP	1.000	G
TUFT1	7286	genome.wustl.edu	37	1	151536388	151536388	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:151536388G>C	ENST00000368849.3	+	4	308	c.246G>C	c.(244-246)ttG>ttC	p.L82F	RP11-74C1.4_ENST00000434112.1_RNA|TUFT1_ENST00000538902.1_Missense_Mutation_p.L101F|TUFT1_ENST00000353024.3_Missense_Mutation_p.L23F|TUFT1_ENST00000368848.2_Missense_Mutation_p.L57F|TUFT1_ENST00000392712.3_Missense_Mutation_p.L57F	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	82					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGTGTACTTGAAGGGGAGGT	0.423																																																	0													134.0	123.0	126.0					1																	151536388		2203	4300	6503	SO:0001583	missense	7286			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.246G>C	1.37:g.151536388G>C	ENSP00000357842:p.Leu82Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	superfamily_Prefoldin	p.L101F	ENST00000368849.3	37	c.303	CCDS1000.1	1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618947	0.66787	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000544350;ENST00000538902;ENST00000507671	T;T;T;T;T	0.43688	1.36;0.94;1.38;1.48;1.3	5.25	4.28	0.50868	.	0.000000	0.64402	D	0.000004	T	0.54143	0.1840	M	0.73598	2.24	0.47214	D	0.999355	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.994	T	0.57871	-0.7736	10	0.66056	D	0.02	-7.5676	10.9988	0.47593	0.0:0.1884:0.8116:0.0	.	101;57;82	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	F	82;57;23;57;57;101;57	ENSP00000357842:L82F;ENSP00000376476:L57F;ENSP00000343781:L23F;ENSP00000357841:L57F;ENSP00000437997:L101F	ENSP00000343781:L23F	L	+	3	2	TUFT1	149803012	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	0.854000	0.27791	2.457000	0.83068	0.563000	0.77884	TTG	TUFT1	-	NULL		0.423	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	TUFT1	HGNC	protein_coding	OTTHUMT00000035022.1	G	NM_020127		151536388	+1	no_errors	ENST00000538902	ensembl	human	known	70_37	missense	SNP	1.000	C
TUSC1	286319	genome.wustl.edu	37	9	25677788	25677788	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:25677788C>G	ENST00000358022.3	-	1	1068	c.532G>C	c.(532-534)Gag>Cag	p.E178Q		NM_001004125.2	NP_001004125.1	Q2TAM9	TUSC1_HUMAN	tumor suppressor candidate 1	178										kidney(1)	1	all_hematologic(1;0.197)	all_neural(3;5.42e-18)|Glioma(3;5.54e-17)		GBM - Glioblastoma multiforme(1;1.51e-108)|Lung(42;2.88e-14)|LUSC - Lung squamous cell carcinoma(38;3.16e-11)		CCCCGCTGCTCGAGGTGCAGC	0.721																																					Pancreas(19;648 672 25630 30820 31331)												0													9.0	10.0	9.0					9																	25677788		2120	4196	6316	SO:0001583	missense	286319			AY168647	CCDS34999.1	9p21.2	2014-05-22			ENSG00000198680	ENSG00000198680			31010	protein-coding gene	gene with protein product		610529				15208665	Standard	NM_001004125		Approved	TSG-9	uc003zpx.3	Q2TAM9	OTTHUMG00000159591	ENST00000358022.3:c.532G>C	9.37:g.25677788C>G	ENSP00000350716:p.Glu178Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJ78|Q67GI3|Q86SS1|Q8TAH8	Missense_Mutation	SNP	NULL	p.E178Q	ENST00000358022.3	37	c.532	CCDS34999.1	9	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378283	0.61735	.	.	ENSG00000198680	ENST00000358022	T	0.51071	0.72	4.13	3.2	0.36748	.	0.564904	0.13780	U	0.363280	T	0.52885	0.1762	L	0.56769	1.78	0.25601	N	0.986593	P	0.51537	0.946	P	0.51355	0.667	T	0.40289	-0.9571	10	0.44086	T	0.13	-5.6252	10.5008	0.44804	0.0:0.6174:0.3826:0.0	.	178	Q2TAM9	TUSC1_HUMAN	Q	178	ENSP00000350716:E178Q	ENSP00000350716:E178Q	E	-	1	0	TUSC1	25667788	0.679000	0.27596	0.914000	0.36105	0.917000	0.54804	1.445000	0.35079	0.668000	0.31126	0.462000	0.41574	GAG	TUSC1	-	NULL		0.721	TUSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUSC1	HGNC	protein_coding	OTTHUMT00000356351.1	C	NM_001004125		25677788	-1	no_errors	ENST00000358022	ensembl	human	known	70_37	missense	SNP	0.797	G
TUT1	64852	genome.wustl.edu	37	11	62342669	62342669	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:62342669C>T	ENST00000476907.1	-	9	3213	c.2522G>A	c.(2521-2523)cGa>cAa	p.R841Q	MIR3654_ENST00000496634.2_Intron|EEF1G_ENST00000532986.1_5'Flank|TUT1_ENST00000308436.7_Missense_Mutation_p.R879Q|EEF1G_ENST00000329251.4_5'Flank|EEF1G_ENST00000378019.3_5'Flank			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	841					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGTGAGCATTCGGTCAGCCGG	0.567																																																	0													82.0	77.0	79.0					11																	62342669		2202	4299	6501	SO:0001583	missense	64852			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.2522G>A	11.37:g.62342669C>T	ENSP00000419607:p.Arg841Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R879Q	ENST00000476907.1	37	c.2636		11	.	.	.	.	.	.	.	.	.	.	C	2.981	-0.210368	0.06140	.	.	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.35236	1.32;1.33	4.84	1.31	0.21738	.	0.716433	0.13689	N	0.369673	T	0.08492	0.0211	N	0.00246	-1.78	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36237	-0.9756	10	0.20046	T	0.44	-3.619	7.227	0.26020	0.0:0.2844:0.0:0.7156	.	841;879	Q9H6E5;F5H0R1	STPAP_HUMAN;.	Q	879;841	ENSP00000308000:R879Q;ENSP00000419607:R841Q	ENSP00000308000:R879Q	R	-	2	0	TUT1	62099245	0.012000	0.17670	0.096000	0.21009	0.084000	0.17831	0.333000	0.19768	0.060000	0.16281	-0.302000	0.09304	CGA	TUT1	-	NULL		0.567	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	TUT1	HGNC	protein_coding	OTTHUMT00000351319.2	C	NM_022830		62342669	-1	no_errors	ENST00000308436	ensembl	human	known	70_37	missense	SNP	0.183	T
TXNRD2	10587	genome.wustl.edu	37	22	19903312	19903312	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:19903312G>A	ENST00000400521.1	-	6	510	c.504C>T	c.(502-504)tgC>tgT	p.C168C	TXNRD2_ENST00000400518.1_Silent_p.C138C|TXNRD2_ENST00000400519.1_Silent_p.C167C|TXNRD2_ENST00000542719.1_Silent_p.C138C|TXNRD2_ENST00000334363.9_Silent_p.C168C|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000535882.1_Silent_p.C167C	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	168					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TGGCAACGCCGCAAACCGTGT	0.463																																																	0													91.0	96.0	94.0					22																	19903312		1991	4157	6148	SO:0001819	synonymous_variant	10587			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.504C>T	22.37:g.19903312G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase	p.C167	ENST00000400521.1	37	c.501	CCDS42981.1	22																																																																																			TXNRD2	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_GIDA-rel,tigrfam_Thioredoxin/glutathione_Rdtase		0.463	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD2	HGNC	protein_coding	OTTHUMT00000314903.3	G	NM_006440		19903312	-1	no_errors	ENST00000535882	ensembl	human	known	70_37	silent	SNP	0.000	A
TYK2	7297	genome.wustl.edu	37	19	10461627	10461627	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:10461627C>G	ENST00000525621.1	-	25	3928	c.3447G>C	c.(3445-3447)aaG>aaC	p.K1149N	TYK2_ENST00000524462.1_Missense_Mutation_p.K964N|TYK2_ENST00000264818.6_Missense_Mutation_p.K1149N|TYK2_ENST00000529422.1_5'UTR	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1149	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCCAGCAGTTCTTCATGAGAT	0.542																																																	0													84.0	83.0	83.0					19																	10461627		2203	4300	6503	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3447G>C	19.37:g.10461627C>G	ENSP00000431885:p.Lys1149Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.K1149N	ENST00000525621.1	37	c.3447	CCDS12236.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.30|18.30	3.593617|3.593617	0.66219|0.66219	.|.	.|.	ENSG00000105397|ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792|ENST00000525976	D;D;D|.	0.83506|.	-1.73;-1.73;-1.73|.	5.38|5.38	4.32|4.32	0.51571|0.51571	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.52532|.	D|.	0.000073|.	T|T	0.45236|0.45236	0.1332|0.1332	L|L	0.31926|0.31926	0.97|0.97	0.53688|0.53688	D|D	0.99997|0.99997	D|.	0.76494|.	0.999|.	D|.	0.73708|.	0.981|.	T|T	0.30880|0.30880	-0.9963|-0.9963	10|5	0.48119|.	T|.	0.1|.	-48.6619|-48.6619	7.9946|7.9946	0.30261|0.30261	0.0:0.8068:0.0:0.1932|0.0:0.8068:0.0:0.1932	.|.	1149|.	P29597|.	TYK2_HUMAN|.	N|T	964;1149;1149;896|26	ENSP00000433203:K964N;ENSP00000431885:K1149N;ENSP00000264818:K1149N|.	ENSP00000264818:K1149N|.	K|R	-|-	3|2	2|0	TYK2|TYK2	10322627|10322627	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.921000|0.921000	0.55340|0.55340	0.941000|0.941000	0.29005|0.29005	1.334000|1.334000	0.45468|0.45468	0.591000|0.591000	0.81541|0.81541	AAG|AGA	TYK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.542	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	C			10461627	-1	no_errors	ENST00000264818	ensembl	human	known	70_37	missense	SNP	1.000	G
TYK2	7297	genome.wustl.edu	37	19	10461768	10461768	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:10461768C>T	ENST00000525621.1	-	24	3870	c.3389G>A	c.(3388-3390)cGa>cAa	p.R1130Q	TYK2_ENST00000524462.1_Missense_Mutation_p.R945Q|TYK2_ENST00000264818.6_Missense_Mutation_p.R1130Q|TYK2_ENST00000529422.1_5'UTR	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1130	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCTCTCCCCTCGTTCCAGCAA	0.522																																																	0													68.0	63.0	64.0					19																	10461768		2203	4300	6503	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3389G>A	19.37:g.10461768C>T	ENSP00000431885:p.Arg1130Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.R1130Q	ENST00000525621.1	37	c.3389	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768900	0.49680	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792	D;D;D	0.82619	-1.63;-1.63;-1.63	5.78	1.26	0.21427	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46442	D	0.000288	T	0.63745	0.2537	N	0.13371	0.34	0.29981	N	0.817683	B	0.23854	0.092	B	0.17098	0.017	T	0.53795	-0.8388	10	0.36615	T	0.2	-2.8722	5.1833	0.15171	0.1455:0.6189:0.0:0.2356	.	1130	P29597	TYK2_HUMAN	Q	945;1130;1130;877	ENSP00000433203:R945Q;ENSP00000431885:R1130Q;ENSP00000264818:R1130Q	ENSP00000264818:R1130Q	R	-	2	0	TYK2	10322768	0.000000	0.05858	0.958000	0.39756	0.878000	0.50629	-0.006000	0.12833	0.075000	0.16796	0.591000	0.81541	CGA	TYK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.522	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	C			10461768	-1	no_errors	ENST00000264818	ensembl	human	known	70_37	missense	SNP	0.591	T
TYK2	7297	genome.wustl.edu	37	19	10461781	10461781	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:10461781C>G	ENST00000525621.1	-	24	3857	c.3376G>C	c.(3376-3378)Gag>Cag	p.E1126Q	TYK2_ENST00000524462.1_Missense_Mutation_p.E941Q|TYK2_ENST00000264818.6_Missense_Mutation_p.E1126Q|TYK2_ENST00000529422.1_5'UTR	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1126	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCCAGCAACTCAGTGAGTCTC	0.498																																																	0													73.0	66.0	68.0					19																	10461781		2203	4300	6503	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3376G>C	19.37:g.10461781C>G	ENSP00000431885:p.Glu1126Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.E1126Q	ENST00000525621.1	37	c.3376	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893448	0.33442	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792	D;D;D	0.83250	-1.7;-1.7;-1.7	5.68	3.57	0.40892	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.118152	0.35407	N	0.003222	T	0.76652	0.4017	L	0.37507	1.11	0.23956	N	0.996353	P	0.42908	0.793	B	0.43331	0.416	T	0.70004	-0.4991	10	0.62326	D	0.03	-42.855	9.6653	0.39981	0.0:0.8328:0.0:0.1672	.	1126	P29597	TYK2_HUMAN	Q	941;1126;1126;873	ENSP00000433203:E941Q;ENSP00000431885:E1126Q;ENSP00000264818:E1126Q	ENSP00000264818:E1126Q	E	-	1	0	TYK2	10322781	0.001000	0.12720	0.491000	0.27477	0.057000	0.15508	0.785000	0.26830	1.408000	0.46895	-0.229000	0.12294	GAG	TYK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.498	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	C			10461781	-1	no_errors	ENST00000264818	ensembl	human	known	70_37	missense	SNP	0.327	G
TYK2	7297	genome.wustl.edu	37	19	10461839	10461839	+	Splice_Site	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:10461839C>T	ENST00000525621.1	-	24	3800		c.e24-1		TYK2_ENST00000524462.1_Splice_Site|TYK2_ENST00000264818.6_Splice_Site|TYK2_ENST00000529422.1_5'UTR	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2						cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CAAGGAATTTCTACAGTATAA	0.517																																																	0													45.0	40.0	42.0					19																	10461839		2203	4300	6503	SO:0001630	splice_region_variant	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3319-1G>A	19.37:g.10461839C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6QB10|Q96CH0	Splice_Site	SNP	-	e22-1	ENST00000525621.1	37	c.3319-1	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528063	0.44969	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2702	0.87099	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TYK2	10322839	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	6.996000	0.76263	2.676000	0.91093	0.591000	0.81541	.	TYK2	-	-		0.517	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	C		Intron	10461839	-1	no_errors	ENST00000264818	ensembl	human	known	70_37	splice_site	SNP	1.000	T
TYK2	7297	genome.wustl.edu	37	19	10463228	10463228	+	Splice_Site	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:10463228C>T	ENST00000525621.1	-	23	3682		c.e23-1		TYK2_ENST00000524462.1_Splice_Site|TYK2_ENST00000264818.6_Splice_Site|TYK2_ENST00000529422.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2						cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGGGGCATACCTAGGGGGAGG	0.607																																																	0													49.0	51.0	50.0					19																	10463228		2203	4300	6503	SO:0001630	splice_region_variant	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3201-1G>A	19.37:g.10463228C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6QB10|Q96CH0	Splice_Site	SNP	-	e21-1	ENST00000525621.1	37	c.3201-1	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164954	0.78339	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529739	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2878	0.82732	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TYK2	10324228	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.516000	0.67055	2.459000	0.83118	0.549000	0.68633	.	TYK2	-	-		0.607	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	C		Intron	10463228	-1	no_errors	ENST00000264818	ensembl	human	known	70_37	splice_site	SNP	1.000	T
TYMS	7298	genome.wustl.edu	37	18	670729	670729	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:670729C>G	ENST00000323274.10	+	5	733	c.594C>G	c.(592-594)ctC>ctG	p.L198L	TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323250.5_Silent_p.L115L|TYMS_ENST00000323224.7_Silent_p.L164L	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	198					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)	p.L198L(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	GCCATGCCCTCTGCCAGTTCT	0.557																																																	1	Substitution - coding silent(1)	lung(1)											156.0	132.0	140.0					18																	670729		2203	4300	6503	SO:0001819	synonymous_variant	7298			X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.594C>G	18.37:g.670729C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WYK3|Q8WYK4	Silent	SNP	pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase	p.L198	ENST00000323274.10	37	c.594	CCDS11821.1	18																																																																																			TYMS	-	pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase		0.557	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYMS	HGNC	protein_coding	OTTHUMT00000254316.1	C	NM_001071		670729	+1	no_errors	ENST00000323274	ensembl	human	known	70_37	silent	SNP	0.884	G
UACA	55075	genome.wustl.edu	37	15	70960244	70960244	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:70960244C>G	ENST00000322954.6	-	16	2964	c.2779G>C	c.(2779-2781)Gag>Cag	p.E927Q	UACA_ENST00000560441.1_Missense_Mutation_p.E912Q|UACA_ENST00000539319.1_Missense_Mutation_p.E818Q|UACA_ENST00000379983.2_Missense_Mutation_p.E914Q	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	927					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GCCTCGTGCTCTGCCAGGCTG	0.383																																																	0													90.0	83.0	85.0					15																	70960244		2199	4298	6497	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2779G>C	15.37:g.70960244C>G	ENSP00000314556:p.Glu927Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.E927Q	ENST00000322954.6	37	c.2779	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077804	0.55753	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.79141	-1.24;-1.24;-1.24	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000006	D	0.87842	0.6279	M	0.72118	2.19	0.58432	D	0.999996	D;D;D;D	0.89917	0.995;0.996;0.998;1.0	D;D;D;D	0.76575	0.928;0.913;0.913;0.988	D	0.86007	0.1498	10	0.41790	T	0.15	-28.0769	20.0965	0.97849	0.0:1.0:0.0:0.0	.	818;927;927;914	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	Q	927;914;818	ENSP00000314556:E927Q;ENSP00000369319:E914Q;ENSP00000438667:E818Q	ENSP00000314556:E927Q	E	-	1	0	UACA	68747298	1.000000	0.71417	0.718000	0.30602	0.371000	0.29859	7.354000	0.79424	2.824000	0.97209	0.655000	0.94253	GAG	UACA	-	NULL		0.383	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	C			70960244	-1	no_errors	ENST00000322954	ensembl	human	known	70_37	missense	SNP	1.000	G
UACA	55075	genome.wustl.edu	37	15	70961397	70961397	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:70961397C>T	ENST00000322954.6	-	16	1811	c.1626G>A	c.(1624-1626)ctG>ctA	p.L542L	UACA_ENST00000560441.1_Silent_p.L527L|UACA_ENST00000539319.1_Silent_p.L433L|UACA_ENST00000379983.2_Silent_p.L529L	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	542					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ACTGATCCTTCAGTTCCTCGG	0.383																																																	0													178.0	169.0	172.0					15																	70961397		2199	4297	6496	SO:0001819	synonymous_variant	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1626G>A	15.37:g.70961397C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.L542	ENST00000322954.6	37	c.1626	CCDS10235.1	15																																																																																			UACA	-	NULL		0.383	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	C			70961397	-1	no_errors	ENST00000322954	ensembl	human	known	70_37	silent	SNP	0.996	T
UBD	10537	genome.wustl.edu	37	6	29523823	29523823	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:29523823G>A	ENST00000377050.4	-	2	555	c.332C>T	c.(331-333)tCa>tTa	p.S111L	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	111	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	proteasome binding (GO:0070628)			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TTGTGCCACTGAGCTGGACCT	0.512																																																	0													127.0	112.0	118.0					6																	29523823		1511	2709	4220	SO:0001583	missense	10537			Y12653	CCDS4662.1	6p21.3	2008-04-11			ENSG00000213886	ENSG00000213886			18795	protein-coding gene	gene with protein product		606050				9368598, 8662070	Standard	NM_006398		Approved	FAT10	uc003nmo.3	O15205	OTTHUMG00000031289	ENST00000377050.4:c.332C>T	6.37:g.29523823G>A	ENSP00000366249:p.Ser111Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.S111L	ENST00000377050.4	37	c.332	CCDS4662.1	6	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005933	0.74932	.	.	ENSG00000213886	ENST00000377050	T	0.74737	-0.87	5.08	4.15	0.48705	Ubiquitin supergroup (1);Ubiquitin (2);	0.769546	0.10148	U	0.710042	T	0.70334	0.3212	M	0.76938	2.355	0.80722	D	1	B	0.33266	0.404	B	0.39590	0.304	T	0.74934	-0.3495	10	0.87932	D	0	-4.1041	10.6704	0.45755	0.0:0.194:0.806:0.0	.	111	O15205	UBD_HUMAN	L	111	ENSP00000366249:S111L	ENSP00000366249:S111L	S	-	2	0	UBD	29631802	0.343000	0.24818	0.999000	0.59377	0.971000	0.66376	2.550000	0.45811	2.342000	0.79632	0.543000	0.68304	TCA	UBD	-	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr		0.512	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBD	HGNC	protein_coding	OTTHUMT00000076628.3	G			29523823	-1	no_errors	ENST00000377050	ensembl	human	known	70_37	missense	SNP	0.997	A
UBE2D3	7323	genome.wustl.edu	37	4	103747823	103747823	+	5'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:103747823C>G	ENST00000394804.2	-	0	535				RP11-10L12.4_ENST00000501133.2_RNA|UBE2D3_ENST00000394803.5_Intron|UBE2D3_ENST00000502404.1_5'Flank|UBE2D3_ENST00000343106.5_5'UTR|UBE2D3_ENST00000349311.8_Intron|UBE2D3_ENST00000350435.7_5'Flank|UBE2D3_ENST00000505207.1_5'Flank|UBE2D3_ENST00000504211.1_5'Flank|UBE2D3_ENST00000357194.6_Intron|UBE2D3_ENST00000513098.1_5'UTR|UBE2D3_ENST00000394801.4_Intron|UBE2D3_ENST00000453744.2_Intron|UBE2D3_ENST00000507845.1_5'Flank|UBE2D3_ENST00000338145.3_Intron|UBE2D3_ENST00000321805.7_5'UTR	NM_181886.2	NP_871615.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3						apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		GATCAGCACTCGCACAGGCCC	0.597																																																	0																																										SO:0001623	5_prime_UTR_variant	7323			U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"""Ubiquitin-conjugating enzymes E2"""	12476	protein-coding gene	gene with protein product		602963	"""ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000394804.2:c.-158G>C	4.37:g.103747823C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	RNA	SNP	-	NULL	ENST00000394804.2	37	NULL	CCDS3660.1	4																																																																																			UBE2D3	-	-		0.597	UBE2D3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	UBE2D3	HGNC	protein_coding	OTTHUMT00000363397.1	C	NM_181893		103747823	-1	no_errors	ENST00000513098	ensembl	human	known	70_37	rna	SNP	1.000	G
UBE2O	63893	genome.wustl.edu	37	17	74392782	74392782	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:74392782C>T	ENST00000319380.7	-	14	2300	c.2236G>A	c.(2236-2238)Ggg>Agg	p.G746R	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	746					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TCCACCAGCCCATTGTCCGTC	0.592																																																	0													114.0	104.0	107.0					17																	74392782		2203	4300	6503	SO:0001583	missense	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2236G>A	17.37:g.74392782C>T	ENSP00000323687:p.Gly746Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.G746R	ENST00000319380.7	37	c.2236	CCDS32742.1	17	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718247	0.89205	.	.	ENSG00000175931	ENST00000319380	T	0.73575	-0.76	4.94	4.94	0.65067	.	0.062472	0.64402	D	0.000005	T	0.76800	0.4038	L	0.40543	1.245	0.58432	D	0.999998	D	0.58268	0.982	P	0.55112	0.769	T	0.73795	-0.3870	10	0.25106	T	0.35	-32.7179	18.1709	0.89745	0.0:1.0:0.0:0.0	.	746	Q9C0C9	UBE2O_HUMAN	R	746	ENSP00000323687:G746R	ENSP00000323687:G746R	G	-	1	0	UBE2O	71904377	1.000000	0.71417	0.997000	0.53966	0.820000	0.46376	7.786000	0.85741	2.283000	0.76528	0.462000	0.41574	GGG	UBE2O	-	NULL		0.592	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	HGNC	protein_coding	OTTHUMT00000450123.1	C	NM_022066		74392782	-1	no_errors	ENST00000319380	ensembl	human	known	70_37	missense	SNP	1.000	T
UBLCP1	134510	genome.wustl.edu	37	5	158705280	158705280	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:158705280C>T	ENST00000296786.6	+	9	1045	c.719C>T	c.(718-720)tCg>tTg	p.S240L		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	240	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.|Phosphatase.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAAGTTTTCGGAGTTTTAC	0.318																																																	0													98.0	98.0	98.0					5																	158705280		2203	4300	6503	SO:0001583	missense	134510			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.719C>T	5.37:g.158705280C>T	ENSP00000296786:p.Ser240Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQJ7|Q96DK5	Missense_Mutation	SNP	pfam_NIF,pfam_Ubiquitin,superfamily_HAD-like_dom,smart_Ubiquitin,smart_NIF,pfscan_NIF,pfscan_Ubiquitin_supergroup,tigrfam_HAD-SF_hydro_IIID	p.S240L	ENST00000296786.6	37	c.719	CCDS4345.1	5	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560019	0.45590	.	.	ENSG00000164332	ENST00000296786	.	.	.	5.44	3.67	0.42095	HAD-superfamily hydrolase, subfamily IIID (1);NLI interacting factor (3);HAD-like domain (2);	0.387826	0.28665	N	0.014549	T	0.34658	0.0905	L	0.29908	0.895	0.40553	D	0.98113	P	0.39404	0.672	B	0.27887	0.084	T	0.28202	-1.0051	9	0.72032	D	0.01	-24.5598	10.8716	0.46887	0.0:0.8522:0.0:0.1478	.	240	Q8WVY7	UBCP1_HUMAN	L	240	.	ENSP00000296786:S240L	S	+	2	0	UBLCP1	158637858	0.986000	0.35501	0.855000	0.33649	0.950000	0.60333	2.450000	0.44943	0.774000	0.33427	-0.150000	0.13652	TCG	UBLCP1	-	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_HAD-SF_hydro_IIID		0.318	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBLCP1	HGNC	protein_coding	OTTHUMT00000252650.2	C	NM_145049		158705280	+1	no_errors	ENST00000296786	ensembl	human	known	70_37	missense	SNP	0.873	T
UBOX5	22888	genome.wustl.edu	37	20	3102562	3102562	+	Silent	SNP	C	C	T	rs369709314		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:3102562C>T	ENST00000217173.2	-	3	1194	c.723G>A	c.(721-723)gaG>gaA	p.E241E	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Silent_p.E241E	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CCTGCTGGCTCTCAGGCTGGT	0.602																																																	0								C	,	0,4406		0,0,2203	40.0	39.0	39.0		723,723	4.4	0.1	20		39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	UBOX5	NM_014948.2,NM_199415.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	241/542,241/488	3102562	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22888			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.723G>A	20.37:g.3102562C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING	p.E241	ENST00000217173.2	37	c.723	CCDS13046.1	20																																																																																			UBOX5	-	NULL		0.602	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBOX5	HGNC	protein_coding	OTTHUMT00000077706.2	C	NM_014948		3102562	-1	no_errors	ENST00000217173	ensembl	human	known	70_37	silent	SNP	0.236	T
UBQLN3	50613	genome.wustl.edu	37	11	5529891	5529891	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:5529891C>G	ENST00000311659.4	-	2	1045	c.898G>C	c.(898-900)Gac>Cac	p.D300H	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	300										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAGAGGGTCACAATTCTCC	0.542																																					Ovarian(72;684 1260 12332 41642 52180)												0													119.0	92.0	101.0					11																	5529891		2201	4297	6498	SO:0001583	missense	50613			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.898G>C	11.37:g.5529891C>G	ENSP00000347997:p.Asp300His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NRE0	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.D300H	ENST00000311659.4	37	c.898	CCDS7758.1	11	.	.	.	.	.	.	.	.	.	.	c	14.78	2.638845	0.47153	.	.	ENSG00000175520	ENST00000311659	T	0.38401	1.14	5.52	5.52	0.82312	.	0.000000	0.48286	D	0.000196	T	0.39517	0.1081	L	0.57130	1.785	0.45076	D	0.998098	B	0.10296	0.003	B	0.12837	0.008	T	0.19614	-1.0300	10	0.62326	D	0.03	-9.7539	17.2783	0.87122	0.0:1.0:0.0:0.0	.	300	Q9H347	UBQL3_HUMAN	H	300	ENSP00000347997:D300H	ENSP00000347997:D300H	D	-	1	0	UBQLN3	5486467	0.997000	0.39634	1.000000	0.80357	0.939000	0.58152	1.291000	0.33330	2.744000	0.94065	0.586000	0.80456	GAC	UBQLN3	-	NULL		0.542	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN3	HGNC	protein_coding	OTTHUMT00000143348.1	C	NM_017481		5529891	-1	no_errors	ENST00000311659	ensembl	human	known	70_37	missense	SNP	1.000	G
UBQLNL	143630	genome.wustl.edu	37	11	5537435	5537435	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:5537435G>C	ENST00000380184.1	-	1	500	c.237C>G	c.(235-237)ctC>ctG	p.L79L	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	79	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CATGGTCTTTGAGAAGGCAAC	0.512																																																	0													199.0	157.0	171.0					11																	5537435		2201	4297	6498	SO:0001819	synonymous_variant	143630			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.237C>G	11.37:g.5537435G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZRU1|Q96EK3|Q96MB0	Silent	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.L79	ENST00000380184.1	37	c.237	CCDS31385.1	11																																																																																			UBQLNL	-	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup		0.512	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	UBQLNL	HGNC	protein_coding	OTTHUMT00000143386.1	G	NM_145053		5537435	-1	no_errors	ENST00000380184	ensembl	human	putative	70_37	silent	SNP	0.996	C
UBR4	23352	genome.wustl.edu	37	1	19401254	19401254	+	3'UTR	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:19401254G>A	ENST00000375254.3	-	0	15651				UBR4_ENST00000375267.2_3'UTR|UBR4_ENST00000429347.2_3'UTR|UBR4_ENST00000375226.2_3'UTR|UBR4_ENST00000375225.3_3'UTR|UBR4_ENST00000375217.2_3'UTR|UBR4_ENST00000375224.1_3'UTR|RP5-1126H10.2_ENST00000606379.1_RNA	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGAACTTAATGCACAAGGAGG	0.557																																																	0																																										SO:0001624	3_prime_UTR_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.*72C>T	1.37:g.19401254G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	RNA	SNP	-	NULL	ENST00000375254.3	37	NULL	CCDS189.1	1																																																																																			UBR4	-	-		0.557	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	G	NM_020765		19401254	-1	no_errors	ENST00000459947	ensembl	human	known	70_37	rna	SNP	0.072	A
UBXN7	26043	genome.wustl.edu	37	3	196088738	196088738	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:196088738G>A	ENST00000296328.4	-	10	1359	c.1285C>T	c.(1285-1287)Ctt>Ttt	p.L429F	UBXN7_ENST00000428095.1_Missense_Mutation_p.L267F|UBXN7_ENST00000535858.1_Missense_Mutation_p.L281F	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	429	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TGCTCTGGAAGAGTGATCTGT	0.433																																																	0													132.0	122.0	125.0					3																	196088738		1884	4112	5996	SO:0001583	missense	26043			AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.1285C>T	3.37:g.196088738G>A	ENSP00000296328:p.Leu429Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DXB3|Q6ZP77|Q86X20|Q8N327	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pirsf_UCP037991_UAS/UBX,pfscan_UBX	p.L429F	ENST00000296328.4	37	c.1285	CCDS43191.1	3	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062564	0.55432	.	.	ENSG00000163960	ENST00000296328;ENST00000428095;ENST00000535858	.	.	.	5.19	5.19	0.71726	UBX (3);	0.000000	0.85682	D	0.000000	T	0.37100	0.0991	N	0.03177	-0.4	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.40887	-0.9539	9	0.02654	T	1	-12.1295	9.7681	0.40574	0.154:0.0:0.846:0.0	.	429	O94888	UBXN7_HUMAN	F	429;267;281	.	ENSP00000296328:L429F	L	-	1	0	UBXN7	197573135	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.258000	0.43249	2.593000	0.87608	0.655000	0.94253	CTT	UBXN7	-	pfam_UBX,smart_UBX,pirsf_UCP037991_UAS/UBX,pfscan_UBX		0.433	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN7	HGNC	protein_coding	OTTHUMT00000340938.2	G	XM_087353		196088738	-1	no_errors	ENST00000296328	ensembl	human	known	70_37	missense	SNP	1.000	A
UFD1L	7353	genome.wustl.edu	37	22	19442308	19442308	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:19442308G>A	ENST00000263202.10	-	11	942	c.813C>T	c.(811-813)atC>atT	p.I271I	AC000068.9_ENST00000607934.1_RNA|UFD1L_ENST00000360834.4_Silent_p.I260I|UFD1L_ENST00000399523.1_Intron|AC000068.10_ENST00000608816.1_RNA	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	271					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					GTGAATTTCTGATGAAAGTTA	0.353																																																	0													106.0	100.0	102.0					22																	19442308		2203	4300	6503	SO:0001819	synonymous_variant	7353			AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"""ubiquitin fusion degradation 1-like"""			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.813C>T	22.37:g.19442308G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MW31|Q9Y5N0	Silent	SNP	pfam_UFD1	p.I271	ENST00000263202.10	37	c.813	CCDS13761.1	22																																																																																			UFD1L	-	NULL		0.353	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFD1L	HGNC	protein_coding	OTTHUMT00000316460.6	G			19442308	-1	no_errors	ENST00000263202	ensembl	human	known	70_37	silent	SNP	1.000	A
UGT1A7	54577	genome.wustl.edu	37	2	234590793	234590793	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:234590793G>A	ENST00000373426.3	+	1	210	c.210G>A	c.(208-210)ctG>ctA	p.L70L	UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	70					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	GAAGATCACTGAATTGCACAG	0.532																																																	0													141.0	125.0	130.0					2																	234590793		2203	4300	6503	SO:0001819	synonymous_variant	54577			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.210G>A	2.37:g.234590793G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B8K293|O00473	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L70	ENST00000373426.3	37	c.210	CCDS2506.1	2																																																																																			UGT1A7	-	pfam_UDP_glucos_trans		0.532	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A7	HGNC	protein_coding	OTTHUMT00000130614.1	G	NM_019077		234590793	+1	no_errors	ENST00000373426	ensembl	human	known	70_37	silent	SNP	0.000	A
UGT2B11	10720	genome.wustl.edu	37	4	70074191	70074191	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:70074191C>T	ENST00000446444.1	-	3	888	c.880G>A	c.(880-882)Gag>Aag	p.E294K	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	294					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTACAAACTCCTCCATTTCC	0.393																																																	0													118.0	122.0	121.0					4																	70074191		2203	4293	6496	SO:0001583	missense	10720			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.880G>A	4.37:g.70074191C>T	ENSP00000387683:p.Glu294Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KNV9	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E294K	ENST00000446444.1	37	c.880	CCDS3527.1	4	.	.	.	.	.	.	.	.	.	.	-	7.609	0.674414	0.14841	.	.	ENSG00000213759	ENST00000446444	T	0.62498	0.02	1.96	1.05	0.20165	.	0.348573	0.25723	U	0.028740	T	0.49440	0.1557	L	0.45137	1.4	0.24182	N	0.99558	B	0.22541	0.071	B	0.32211	0.142	T	0.45789	-0.9237	10	0.59425	D	0.04	.	3.4761	0.07585	0.0:0.592:0.0:0.408	.	294	O75310	UDB11_HUMAN	K	294	ENSP00000387683:E294K	ENSP00000387683:E294K	E	-	1	0	UGT2B11	70108780	0.984000	0.35163	0.960000	0.40013	0.027000	0.11550	1.426000	0.34870	1.087000	0.41251	0.184000	0.17185	GAG	UGT2B11	-	pfam_UDP_glucos_trans		0.393	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B11	HGNC	protein_coding	OTTHUMT00000251551.2	C	NM_001073		70074191	-1	no_errors	ENST00000446444	ensembl	human	known	70_37	missense	SNP	1.000	T
UGT3A2	167127	genome.wustl.edu	37	5	36066870	36066870	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:36066870G>A	ENST00000282507.3	-	1	123	c.22C>T	c.(22-24)Ctt>Ttt	p.L8F	UGT3A2_ENST00000513300.1_Missense_Mutation_p.L8F|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	8					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCACTAGAAGAAGCACTCGC	0.602																																																	0													107.0	113.0	111.0					5																	36066870		2203	4300	6503	SO:0001583	missense	167127				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.22C>T	5.37:g.36066870G>A	ENSP00000282507:p.Leu8Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L8F	ENST00000282507.3	37	c.22	CCDS3914.1	5	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818334	0.71028	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000515131	T;T;T	0.73789	-0.18;-0.78;1.06	3.3	2.42	0.29668	.	2.249610	0.03436	U	0.208463	D	0.86029	0.5835	M	0.80183	2.485	0.51767	D	0.999933	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.986	T	0.73471	-0.3972	10	0.48119	T	0.1	.	6.5562	0.22462	0.1322:0.0:0.8678:0.0	.	8;8	E9PFK7;Q3SY77	.;UD3A2_HUMAN	F	8	ENSP00000282507:L8F;ENSP00000427404:L8F;ENSP00000420865:L8F	ENSP00000282507:L8F	L	-	1	0	UGT3A2	36102627	0.239000	0.23836	0.469000	0.27204	0.598000	0.36846	0.694000	0.25512	0.957000	0.37930	0.655000	0.94253	CTT	UGT3A2	-	NULL		0.602	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2	G	NM_174914		36066870	-1	no_errors	ENST00000282507	ensembl	human	known	70_37	missense	SNP	0.560	A
UHRF1BP1	54887	genome.wustl.edu	37	6	34791077	34791077	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:34791077C>T	ENST00000192788.5	+	4	461	c.290C>T	c.(289-291)cCt>cTt	p.P97L	Y_RNA_ENST00000383990.1_RNA|UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.P97L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	97							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGTGAGGATCCTCGGCCCCCC	0.448																																																	0													265.0	267.0	267.0					6																	34791077		1998	4154	6152	SO:0001583	missense	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.290C>T	6.37:g.34791077C>T	ENSP00000192788:p.Pro97Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NXE0	Missense_Mutation	SNP	NULL	p.P97L	ENST00000192788.5	37	c.290	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	C	32	5.159712	0.94727	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08634	3.07;3.07	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	L	0.49699	1.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00802	-1.1560	10	0.66056	D	0.02	-16.3349	18.541	0.91027	0.0:1.0:0.0:0.0	.	97	Q6BDS2	URFB1_HUMAN	L	97	ENSP00000192788:P97L;ENSP00000400628:P97L	ENSP00000192788:P97L	P	+	2	0	UHRF1BP1	34899055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.616000	0.83018	2.604000	0.88044	0.655000	0.94253	CCT	UHRF1BP1	-	NULL		0.448	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	C	NM_017754		34791077	+1	no_errors	ENST00000192788	ensembl	human	known	70_37	missense	SNP	1.000	T
UHRF1BP1	54887	genome.wustl.edu	37	6	34835034	34835034	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:34835034C>G	ENST00000192788.5	+	16	3616	c.3445C>G	c.(3445-3447)Ctt>Gtt	p.L1149V	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L1149V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1149							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						ACCAGGATCTCTTTCAAATGT	0.428																																																	0													65.0	60.0	61.0					6																	34835034		1845	4085	5930	SO:0001583	missense	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3445C>G	6.37:g.34835034C>G	ENSP00000192788:p.Leu1149Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NXE0	Missense_Mutation	SNP	NULL	p.L1149V	ENST00000192788.5	37	c.3445	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	C	0.102	-1.150368	0.01700	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08634	3.07;3.07	5.23	2.43	0.29744	.	0.740327	0.12901	N	0.429795	T	0.01454	0.0047	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48581	-0.9023	10	0.16896	T	0.51	-3.2589	7.1968	0.25858	0.0:0.7057:0.1438:0.1505	.	1149	Q6BDS2	URFB1_HUMAN	V	1149	ENSP00000192788:L1149V;ENSP00000400628:L1149V	ENSP00000192788:L1149V	L	+	1	0	UHRF1BP1	34943012	0.991000	0.36638	0.637000	0.29366	0.120000	0.20174	3.031000	0.49728	0.278000	0.22164	-0.768000	0.03414	CTT	UHRF1BP1	-	NULL		0.428	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	C	NM_017754		34835034	+1	no_errors	ENST00000192788	ensembl	human	known	70_37	missense	SNP	0.414	G
ULBP3	79465	genome.wustl.edu	37	6	150386782	150386782	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:150386782G>C	ENST00000367339.2	-	3	408	c.380C>G	c.(379-381)tCt>tGt	p.S127C	ULBP3_ENST00000438272.2_Missense_Mutation_p.S127C			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	127	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)|viral process (GO:0016032)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		ACACTCACAAGACATCCTGAC	0.507																																																	0													105.0	100.0	102.0					6																	150386782		2203	4300	6503	SO:0001583	missense	79465			AF304379	CCDS5225.1	6q25	2008-04-11			ENSG00000131019	ENSG00000131019			14895	protein-coding gene	gene with protein product		605699				11239445, 11827464	Standard	NM_024518		Approved	RAET1N	uc003qns.3	Q9BZM4	OTTHUMG00000015811	ENST00000367339.2:c.380C>G	6.37:g.150386782G>C	ENSP00000356308:p.Ser127Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VY82|Q8IZX5|Q8TE75	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.S127C	ENST00000367339.2	37	c.380	CCDS5225.1	6	.	.	.	.	.	.	.	.	.	.	G	9.266	1.044413	0.19748	.	.	ENSG00000131019	ENST00000399812;ENST00000253335;ENST00000367339;ENST00000438272	T;T	0.00724	5.78;5.78	3.34	-6.69	0.01772	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00384	0.0012	L	0.42245	1.32	0.09310	N	1	P;P	0.45011	0.848;0.848	P;P	0.49421	0.61;0.61	T	0.28038	-1.0056	9	0.36615	T	0.2	0.0016	4.8638	0.13598	0.1521:0.5721:0.1615:0.1143	.	127;127	Q5VY82;Q9BZM4	.;N2DL3_HUMAN	C	78;127;127;127	ENSP00000356308:S127C;ENSP00000403562:S127C	ENSP00000253335:S127C	S	-	2	0	ULBP3	150428475	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-5.468000	0.00120	-1.583000	0.01638	-0.479000	0.04858	TCT	ULBP3	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.507	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULBP3	HGNC	protein_coding	OTTHUMT00000042678.2	G			150386782	-1	no_errors	ENST00000367339	ensembl	human	known	70_37	missense	SNP	0.000	C
UNC13B	10497	genome.wustl.edu	37	9	35310582	35310582	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:35310582C>T	ENST00000378495.3	+	9	1102	c.880C>T	c.(880-882)Cat>Tat	p.H294Y	UNC13B_ENST00000378496.4_Missense_Mutation_p.H294Y|UNC13B_ENST00000396787.1_Missense_Mutation_p.H306Y	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	294					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGACTCGATTCATTCTTGCCA	0.512																																																	0													136.0	135.0	135.0					9																	35310582		2203	4300	6503	SO:0001583	missense	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.880C>T	9.37:g.35310582C>T	ENSP00000367756:p.His294Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.H306Y	ENST00000378495.3	37	c.916	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603382	0.28534	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	D;D;D	0.84589	-1.75;-1.68;-1.87	5.81	3.83	0.44106	.	0.549062	0.19594	N	0.110542	T	0.68632	0.3022	N	0.12961	0.28	0.35280	D	0.781254	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.001	T	0.65236	-0.6217	10	0.19590	T	0.45	-8.3879	6.5858	0.22620	0.0:0.6577:0.143:0.1993	.	294;294;294	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	Y	306;294;294	ENSP00000380006:H306Y;ENSP00000367756:H294Y;ENSP00000367757:H294Y	ENSP00000367756:H294Y	H	+	1	0	UNC13B	35300582	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	1.247000	0.32815	2.746000	0.94184	0.655000	0.94253	CAT	UNC13B	-	NULL		0.512	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	C	NM_006377		35310582	+1	no_errors	ENST00000396787	ensembl	human	known	70_37	missense	SNP	1.000	T
UNC13D	201294	genome.wustl.edu	37	17	73824970	73824970	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:73824970C>T	ENST00000207549.4	-	31	3428	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	UNC13D_ENST00000412096.2_Missense_Mutation_p.E1017K	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	1017	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGAAGGCCTCGCCTTCCAGG	0.706									Familial Hemophagocytic Lymphohistiocytosis																																								0													15.0	16.0	16.0					17																	73824970		2180	4265	6445	SO:0001583	missense	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.3049G>A	17.37:g.73824970C>T	ENSP00000207549:p.Glu1017Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWG9|Q9H7K5	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E1017K	ENST00000207549.4	37	c.3049	CCDS11730.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.437621	0.96168	.	.	ENSG00000092929	ENST00000207549;ENST00000412096	T;T	0.70045	-0.45;-0.45	5.59	5.59	0.84812	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.063081	0.64402	D	0.000007	T	0.78761	0.4334	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.74365	-0.3689	10	0.33141	T	0.24	-3.4998	19.9397	0.97154	0.0:1.0:0.0:0.0	.	1017	Q70J99	UN13D_HUMAN	K	1017	ENSP00000207549:E1017K;ENSP00000388093:E1017K	ENSP00000207549:E1017K	E	-	1	0	UNC13D	71336565	1.000000	0.71417	0.998000	0.56505	0.448000	0.32197	7.389000	0.79806	2.789000	0.95967	0.655000	0.94253	GAG	UNC13D	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.706	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	HGNC	protein_coding	OTTHUMT00000448847.2	C	XM_113950		73824970	-1	no_errors	ENST00000412096	ensembl	human	known	70_37	missense	SNP	1.000	T
UNC45A	55898	genome.wustl.edu	37	15	91496406	91496406	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:91496406C>T	ENST00000418476.2	+	19	2483	c.2443C>T	c.(2443-2445)Cag>Tag	p.Q815*	RCCD1_ENST00000555155.1_5'Flank|RCCD1_ENST00000556618.1_5'Flank|UNC45A_ENST00000394275.2_Nonsense_Mutation_p.Q800*|RCCD1_ENST00000394258.2_5'Flank|AC068831.6_ENST00000553321.1_RNA	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	815					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTTCGAAGCCCAGGGCAATGA	0.607																																																	0													77.0	82.0	81.0					15																	91496406		2198	4298	6496	SO:0001587	stop_gained	55898				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.2443C>T	15.37:g.91496406C>T	ENSP00000407487:p.Gln815*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Nonsense_Mutation	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q815*	ENST00000418476.2	37	c.2443	CCDS10367.1	15	.	.	.	.	.	.	.	.	.	.	c	36	5.603722	0.96626	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	.	.	.	5.63	-8.08	0.01094	.	1.898950	0.02812	N	0.124416	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	0.0094	13.0206	0.58784	0.2275:0.1282:0.6443:0.0	.	.	.	.	X	800;815	.	ENSP00000377816:Q800X	Q	+	1	0	UNC45A	89297410	0.000000	0.05858	0.000000	0.03702	0.833000	0.47200	0.171000	0.16685	-1.655000	0.01497	-0.137000	0.14449	CAG	UNC45A	-	superfamily_ARM-type_fold		0.607	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45A	HGNC	protein_coding	OTTHUMT00000280406.2	C	NM_018671		91496406	+1	no_errors	ENST00000418476	ensembl	human	known	70_37	nonsense	SNP	0.000	T
UNC5A	90249	genome.wustl.edu	37	5	176301441	176301441	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:176301441G>A	ENST00000329542.4	+	8	1526	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	UNC5A_ENST00000261961.3_Missense_Mutation_p.E378K	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	418					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCACCTCTGAGGCCGAGGA	0.652																																																	0													90.0	98.0	95.0					5																	176301441		2203	4300	6503	SO:0001583	missense	90249			AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1252G>A	5.37:g.176301441G>A	ENSP00000332737:p.Glu418Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	pfam_ZU5,pfam_Death,pfam_Ig_I-set,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.E418K	ENST00000329542.4	37	c.1252	CCDS34299.1	5	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352655	0.61293	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.48201	0.82;1.14	5.34	5.34	0.76211	.	0.175518	0.40064	N	0.001181	T	0.44746	0.1308	L	0.48642	1.525	0.51767	D	0.999935	P;B	0.35821	0.523;0.181	B;B	0.38225	0.268;0.024	T	0.26744	-1.0094	10	0.19147	T	0.46	-11.689	17.2071	0.86921	0.0:0.0:1.0:0.0	.	378;418	Q6ZN44-3;Q6ZN44	.;UNC5A_HUMAN	K	418;378	ENSP00000332737:E418K;ENSP00000261961:E378K	ENSP00000261961:E378K	E	+	1	0	UNC5A	176234047	1.000000	0.71417	0.976000	0.42696	0.648000	0.38561	9.278000	0.95766	2.512000	0.84698	0.484000	0.47621	GAG	UNC5A	-	NULL		0.652	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5A	HGNC	protein_coding	OTTHUMT00000372166.1	G	XM_030300		176301441	+1	no_errors	ENST00000329542	ensembl	human	known	70_37	missense	SNP	1.000	A
UNC79	57578	genome.wustl.edu	37	14	94160720	94160720	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:94160720G>A	ENST00000393151.2	+	48	7627	c.7627G>A	c.(7627-7629)Gag>Aag	p.E2543K	UNC79_ENST00000553484.1_Missense_Mutation_p.E2565K|UNC79_ENST00000555664.1_Missense_Mutation_p.E2504K|UNC79_ENST00000256339.4_Missense_Mutation_p.E2366K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2543					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TAGTTTAATGGAGGCATTGCA	0.338																																																	0													176.0	165.0	169.0					14																	94160720		2203	4300	6503	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7627G>A	14.37:g.94160720G>A	ENSP00000376858:p.Glu2543Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E2565K	ENST00000393151.2	37	c.7693		14	.	.	.	.	.	.	.	.	.	.	G	36	5.604377	0.96626	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.31510	1.49;1.54;1.49;1.49	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	M	0.73217	2.22	0.80722	D	1	D	0.64830	0.994	D	0.64410	0.925	T	0.56673	-0.7940	10	0.87932	D	0	-10.9877	19.8179	0.96578	0.0:0.0:1.0:0.0	.	2565	C9JQL1	.	K	2366;2504;2565;2543;2565	ENSP00000256339:E2366K;ENSP00000450868:E2504K;ENSP00000451360:E2565K;ENSP00000376858:E2543K	ENSP00000256339:E2366K	E	+	1	0	KIAA1409	93230473	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.789000	0.95967	0.655000	0.94253	GAG	UNC79	-	NULL		0.338	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	G	XM_028395		94160720	+1	no_errors	ENST00000553484	ensembl	human	known	70_37	missense	SNP	1.000	A
UNC80	285175	genome.wustl.edu	37	2	210685166	210685166	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:210685166G>A	ENST00000439458.1	+	13	2174	c.2094G>A	c.(2092-2094)aaG>aaA	p.K698K	UNC80_ENST00000272845.6_Silent_p.K698K	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	698					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						ATAGAAAGAAGAGTGAAAACA	0.458																																																	0													146.0	135.0	138.0					2																	210685166		692	1591	2283	SO:0001819	synonymous_variant	285175			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.2094G>A	2.37:g.210685166G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Silent	SNP	NULL	p.K698	ENST00000439458.1	37	c.2094	CCDS46504.1	2																																																																																			UNC80	-	NULL		0.458	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		G	NM_182587		210685166	+1	no_errors	ENST00000439458	ensembl	human	known	70_37	silent	SNP	0.992	A
UPF1	5976	genome.wustl.edu	37	19	18968252	18968252	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:18968252C>T	ENST00000599848.1	+	15	2334	c.2125C>T	c.(2125-2127)Ctg>Ttg	p.L709L	UPF1_ENST00000262803.5_Silent_p.L698L			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	709					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCCCATCCGCCTGCAGGTCCA	0.647																																																	0													37.0	38.0	38.0					19																	18968252		2203	4300	6503	SO:0001819	synonymous_variant	5976			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2125C>T	19.37:g.18968252C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O00239|O43343|Q86Z25|Q92842	Silent	SNP	pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom	p.L709	ENST00000599848.1	37	c.2125		19																																																																																			UPF1	-	NULL		0.647	UPF1-002	KNOWN	basic	protein_coding	UPF1	HGNC	protein_coding	OTTHUMT00000464684.1	C	NM_002911		18968252	+1	no_errors	ENST00000599848	ensembl	human	known	70_37	silent	SNP	1.000	T
UROS	7390	genome.wustl.edu	37	10	127503687	127503687	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:127503687C>G	ENST00000368797.4	-	4	384	c.160G>C	c.(160-162)Gaa>Caa	p.E54Q	UROS_ENST00000368774.1_Missense_Mutation_p.E54Q|UROS_ENST00000368778.3_Missense_Mutation_p.E54Q|UROS_ENST00000368786.1_Missense_Mutation_p.E54Q	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	54					cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				CCGTAATCTTCAGGATGAGAA	0.433																																																	0													83.0	82.0	82.0					10																	127503687		2203	4300	6503	SO:0001583	missense	7390			J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"""congenital erythropoietic porphyria"""	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.160G>C	10.37:g.127503687C>G	ENSP00000357787:p.Glu54Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC13|D3DRF7|Q9H2T1	Missense_Mutation	SNP	pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth	p.E54Q	ENST00000368797.4	37	c.160	CCDS7648.1	10	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013382	0.54468	.	.	ENSG00000188690	ENST00000368797;ENST00000368786;ENST00000420761;ENST00000368778;ENST00000368774	D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21	5.43	5.43	0.79202	Tetrapyrrole biosynthesis, uroporphyrinogen III synthase (2);	0.000000	0.85682	D	0.000000	D	0.96552	0.8875	M	0.85197	2.74	0.51012	D	0.999908	D	0.71674	0.998	D	0.65140	0.932	D	0.96024	0.9011	10	0.46703	T	0.11	-19.0238	16.2647	0.82571	0.0:1.0:0.0:0.0	.	54	P10746	HEM4_HUMAN	Q	54;54;26;54;54	ENSP00000357787:E54Q;ENSP00000357775:E54Q;ENSP00000414833:E26Q;ENSP00000357767:E54Q;ENSP00000357763:E54Q	ENSP00000357763:E54Q	E	-	1	0	UROS	127493677	0.998000	0.40836	0.216000	0.23742	0.846000	0.48090	5.381000	0.66208	2.824000	0.97209	0.655000	0.94253	GAA	UROS	-	pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth		0.433	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROS	HGNC	protein_coding	OTTHUMT00000050929.1	C	NM_000375		127503687	-1	no_errors	ENST00000368786	ensembl	human	known	70_37	missense	SNP	0.609	G
USH1C	10083	genome.wustl.edu	37	11	17522622	17522622	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:17522622C>G	ENST00000318024.4	-	18	1564	c.1456G>C	c.(1456-1458)Gag>Cag	p.E486Q	USH1C_ENST00000527720.1_Missense_Mutation_p.E455Q|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527020.1_Missense_Mutation_p.E467Q|USH1C_ENST00000005226.7_Missense_Mutation_p.E786Q	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	486	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GCTCCCCGCTCATACACAGCA	0.587																																																	0													76.0	61.0	66.0					11																	17522622		2200	4293	6493	SO:0001583	missense	10083			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1456G>C	11.37:g.17522622C>G	ENSP00000317018:p.Glu486Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E786Q	ENST00000318024.4	37	c.2356	CCDS31438.1	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944178	0.73672	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.27	5.27	0.74061	PDZ/DHR/GLGF (4);	0.142637	0.48286	D	0.000197	T	0.47967	0.1474	L	0.60455	1.87	0.42217	D	0.991838	P;P;B	0.43938	0.725;0.822;0.407	P;P;P	0.53912	0.465;0.737;0.455	T	0.43589	-0.9382	10	0.66056	D	0.02	.	17.8381	0.88706	0.0:1.0:0.0:0.0	.	467;486;786	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	Q	486;455;467;786	ENSP00000317018:E486Q;ENSP00000432944:E455Q;ENSP00000436934:E467Q;ENSP00000005226:E786Q	ENSP00000005226:E786Q	E	-	1	0	USH1C	17479198	1.000000	0.71417	0.962000	0.40283	0.841000	0.47740	6.301000	0.72782	2.741000	0.93983	0.650000	0.86243	GAG	USH1C	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.587	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	HGNC	protein_coding	OTTHUMT00000389146.1	C	NM_005709		17522622	-1	no_errors	ENST00000005226	ensembl	human	known	70_37	missense	SNP	0.999	G
USH1C	10083	genome.wustl.edu	37	11	17522649	17522649	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:17522649C>A	ENST00000318024.4	-	18	1537	c.1429G>T	c.(1429-1431)Ggg>Tgg	p.G477W	USH1C_ENST00000527720.1_Missense_Mutation_p.G446W|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527020.1_Missense_Mutation_p.G458W|USH1C_ENST00000005226.7_Missense_Mutation_p.G777W	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	477	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ACCACCTTCCCAATGGGGGAG	0.582																																																	0													75.0	62.0	66.0					11																	17522649		2200	4293	6493	SO:0001583	missense	10083			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1429G>T	11.37:g.17522649C>A	ENSP00000317018:p.Gly477Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G777W	ENST00000318024.4	37	c.2329	CCDS31438.1	11	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656078	0.88056	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.27	5.27	0.74061	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.60753	0.2293	M	0.84082	2.675	0.50171	D	0.99985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.65191	-0.6228	10	0.72032	D	0.01	.	17.8381	0.88706	0.0:1.0:0.0:0.0	.	458;477;777	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	W	477;446;458;777	ENSP00000317018:G477W;ENSP00000432944:G446W;ENSP00000436934:G458W;ENSP00000005226:G777W	ENSP00000005226:G777W	G	-	1	0	USH1C	17479225	1.000000	0.71417	0.964000	0.40570	0.986000	0.74619	6.301000	0.72782	2.741000	0.93983	0.650000	0.86243	GGG	USH1C	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.582	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	HGNC	protein_coding	OTTHUMT00000389146.1	C	NM_005709		17522649	-1	no_errors	ENST00000005226	ensembl	human	known	70_37	missense	SNP	0.999	A
USH2A	7399	genome.wustl.edu	37	1	215953249	215953249	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:215953249G>C	ENST00000307340.3	-	55	11261	c.10875C>G	c.(10873-10875)atC>atG	p.I3625M	USH2A_ENST00000366943.2_Missense_Mutation_p.I3625M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3625	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAACCTGCCTGATCTGGTACT	0.502										HNSCC(13;0.011)																																							0													201.0	161.0	174.0					1																	215953249		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10875C>G	1.37:g.215953249G>C	ENSP00000305941:p.Ile3625Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.I3625M	ENST00000307340.3	37	c.10875	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041127	0.55003	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.64085	-0.08;-0.08	5.9	4.02	0.46733	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.570867	0.14438	N	0.319556	T	0.61999	0.2392	M	0.61703	1.905	0.22142	N	0.999335	P	0.39022	0.655	B	0.41619	0.361	T	0.58148	-0.7687	10	0.72032	D	0.01	.	10.379	0.44099	0.2022:0.0:0.7978:0.0	.	3625	O75445	USH2A_HUMAN	M	3625	ENSP00000305941:I3625M;ENSP00000355910:I3625M	ENSP00000305941:I3625M	I	-	3	3	USH2A	214019872	1.000000	0.71417	0.881000	0.34555	0.987000	0.75469	4.098000	0.57748	1.501000	0.48654	0.650000	0.86243	ATC	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.502	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	G	NM_007123		215953249	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.938	C
USH2A	7399	genome.wustl.edu	37	1	216497640	216497640	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:216497640G>C	ENST00000307340.3	-	7	1584	c.1198C>G	c.(1198-1200)Caa>Gaa	p.Q400E	USH2A_ENST00000366942.3_Missense_Mutation_p.Q400E|USH2A_ENST00000366943.2_Missense_Mutation_p.Q400E	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	400	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCTTCCTTTGAATCCTTATT	0.318										HNSCC(13;0.011)																																							0													87.0	92.0	90.0					1																	216497640		2200	4296	6496	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1198C>G	1.37:g.216497640G>C	ENSP00000305941:p.Gln400Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.Q400E	ENST00000307340.3	37	c.1198	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	9.723	1.160226	0.21454	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.78816	-1.21;-1.21;-1.21	5.52	4.58	0.56647	Laminin, N-terminal (3);	0.669334	0.12238	N	0.486805	T	0.62282	0.2415	N	0.12637	0.245	0.45108	D	0.998128	B;B	0.24258	0.056;0.1	B;B	0.30029	0.027;0.11	T	0.52480	-0.8570	10	0.05351	T	0.99	.	15.5651	0.76284	0.0:0.2773:0.7227:0.0	.	400;400	O75445-2;O75445	.;USH2A_HUMAN	E	400	ENSP00000305941:Q400E;ENSP00000355910:Q400E;ENSP00000355909:Q400E	ENSP00000305941:Q400E	Q	-	1	0	USH2A	214564263	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	4.393000	0.59665	1.262000	0.44165	0.655000	0.94253	CAA	USH2A	-	smart_Laminin_N,pfscan_Laminin_N		0.318	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	G	NM_007123		216497640	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	1.000	C
USP17L2	377630	genome.wustl.edu	37	8	11995849	11995849	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:11995849G>A	ENST00000333796.3	-	1	737	c.421C>T	c.(421-423)Cat>Tat	p.H141Y	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	141	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGGATGACATGACCAGGACTG	0.527																																																	0													26.0	30.0	29.0					8																	11995849		1472	3050	4522	SO:0001583	missense	377630			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.421C>T	8.37:g.11995849G>A	ENSP00000333329:p.His141Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19	p.H141Y	ENST00000333796.3	37	c.421	CCDS43713.1	8	.	.	.	.	.	.	.	.	.	.	G	5.466	0.271104	0.10349	.	.	ENSG00000223443	ENST00000333796	T	0.05447	3.44	0.745	-1.49	0.08718	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	2.157830	0.03977	U	0.292679	T	0.04770	0.0129	N	0.21282	0.65	0.09310	N	0.999995	B	0.06786	0.001	B	0.04013	0.001	T	0.42565	-0.9444	10	0.72032	D	0.01	.	2.2173	0.03963	0.3039:0.3379:0.3581:0.0	.	141	Q6R6M4	U17L2_HUMAN	Y	141	ENSP00000333329:H141Y	ENSP00000333329:H141Y	H	-	1	0	USP17L2	12033258	0.549000	0.26481	0.000000	0.03702	0.003000	0.03518	-0.037000	0.12164	-0.930000	0.03752	-0.385000	0.06624	CAT	USP17L2	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.527	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	HGNC	protein_coding	OTTHUMT00000383303.2	G	NM_201402		11995849	-1	no_errors	ENST00000333796	ensembl	human	known	70_37	missense	SNP	0.632	A
USP17L2	377630	genome.wustl.edu	37	8	11996239	11996239	+	Missense_Mutation	SNP	C	C	G	rs550178667		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:11996239C>G	ENST00000333796.3	-	1	347	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	11					apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						AACTGCCACTCACCTCCCAAG	0.517													-|||	1	0.000199681	0.0	0.0	5008	,	,		18673	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001583	missense	377630			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.31G>C	8.37:g.11996239C>G	ENSP00000333329:p.Glu11Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19	p.E11Q	ENST00000333796.3	37	c.31	CCDS43713.1	8	.	.	.	.	.	.	.	.	.	.	-	6.405	0.442788	0.12164	.	.	ENSG00000223443	ENST00000333796	T	0.13307	2.6	0.36	0.36	0.16097	.	0.871985	0.09013	U	0.861316	T	0.08447	0.0210	N	0.19112	0.55	0.09310	N	0.999993	B	0.17038	0.02	B	0.12837	0.008	T	0.36841	-0.9731	9	0.38643	T	0.18	.	.	.	.	.	11	Q6R6M4	U17L2_HUMAN	Q	11	ENSP00000333329:E11Q	ENSP00000333329:E11Q	E	-	1	0	USP17L2	12033648	0.246000	0.23909	0.051000	0.19133	0.050000	0.14768	0.375000	0.20518	0.469000	0.27268	0.472000	0.43445	GAG	USP17L2	-	NULL		0.517	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	HGNC	protein_coding	OTTHUMT00000383303.2	C	NM_201402		11996239	-1	no_errors	ENST00000333796	ensembl	human	known	70_37	missense	SNP	0.573	G
USP31	57478	genome.wustl.edu	37	16	23119422	23119422	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:23119422C>A	ENST00000219689.7	-	2	715	c.716G>T	c.(715-717)cGa>cTa	p.R239L		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	192	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTCATGAACTCGGTCCAAAAG	0.502																																																	0													100.0	93.0	95.0					16																	23119422		2197	4300	6497	SO:0001583	missense	57478			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.716G>T	16.37:g.23119422C>A	ENSP00000219689:p.Arg239Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R239L	ENST00000219689.7	37	c.716	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	C	35	5.521519	0.96416	.	.	ENSG00000103404	ENST00000219689	T	0.31247	1.5	5.87	5.87	0.94306	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000003	T	0.49184	0.1542	L	0.41710	1.295	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.24368	-1.0162	10	0.40728	T	0.16	-8.2058	19.1942	0.93681	0.0:1.0:0.0:0.0	.	239	Q70CQ4	UBP31_HUMAN	L	239	ENSP00000219689:R239L	ENSP00000219689:R239L	R	-	2	0	USP31	23026923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.410000	0.80065	2.785000	0.95823	0.655000	0.94253	CGA	USP31	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.502	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	C	NM_020718		23119422	-1	no_errors	ENST00000219689	ensembl	human	known	70_37	missense	SNP	1.000	A
USP43	124739	genome.wustl.edu	37	17	9603499	9603499	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:9603499C>T	ENST00000285199.7	+	10	1564	c.1468C>T	c.(1468-1470)Ctc>Ttc	p.L490F	USP43_ENST00000570475.1_Missense_Mutation_p.L490F|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	490	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GGTTTTGCATCTCAGGAGGCC	0.582																																																	0													52.0	50.0	50.0					17																	9603499		1936	4150	6086	SO:0001583	missense	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1468C>T	17.37:g.9603499C>T	ENSP00000285199:p.Leu490Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.L490F	ENST00000285199.7	37	c.1468	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	C	9.877	1.200648	0.22121	.	.	ENSG00000154914	ENST00000285199	T	0.11277	2.79	5.03	2.98	0.34508	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.372251	0.26539	N	0.023819	T	0.09730	0.0239	L	0.49126	1.545	0.48087	D	0.999587	B;B;B	0.32604	0.377;0.102;0.314	B;B;B	0.36186	0.219;0.079;0.117	T	0.12889	-1.0530	10	0.10111	T	0.7	-17.9212	7.6408	0.28292	0.164:0.7485:0.0:0.0875	.	490;179;490	B7ZVX5;Q70EL4-3;Q70EL4	.;.;UBP43_HUMAN	F	490	ENSP00000285199:L490F	ENSP00000285199:L490F	L	+	1	0	USP43	9544224	0.923000	0.31300	0.996000	0.52242	0.351000	0.29236	0.456000	0.21859	0.654000	0.30846	0.563000	0.77884	CTC	USP43	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.582	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	C	NM_153210		9603499	+1	no_errors	ENST00000285199	ensembl	human	known	70_37	missense	SNP	0.996	T
USP48	84196	genome.wustl.edu	37	1	22056230	22056230	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:22056230G>C	ENST00000308271.9	-	10	1915	c.1267C>G	c.(1267-1269)Caa>Gaa	p.Q423E	USP48_ENST00000400301.1_Missense_Mutation_p.Q423E|USP48_ENST00000421625.2_Missense_Mutation_p.Q423E|USP48_ENST00000529637.1_Missense_Mutation_p.Q422E	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	423					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GGCTTTTCTTGAGTTTGCAGT	0.393																																																	0													192.0	170.0	178.0					1																	22056230		2203	4300	6503	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1267C>G	1.37:g.22056230G>C	ENSP00000309262:p.Gln423Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.Q423E	ENST00000308271.9	37	c.1267	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	G	8.764	0.924240	0.18056	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000526044;ENST00000534705;ENST00000421625	T;T;T;T	0.05199	3.48;3.48;3.48;3.48	5.59	5.59	0.84812	.	0.484716	0.23314	N	0.049540	T	0.02494	0.0076	N	0.01874	-0.695	0.23430	N	0.997691	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.001;0.0	T	0.37934	-0.9684	10	0.02654	T	1	.	14.5521	0.68073	0.0:0.146:0.854:0.0	.	422;423;423;423;423;423	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	E	423;423;422;9;45;423	ENSP00000383157:Q423E;ENSP00000309262:Q423E;ENSP00000431949:Q422E;ENSP00000406256:Q423E	ENSP00000309262:Q423E	Q	-	1	0	USP48	21928817	1.000000	0.71417	0.689000	0.30133	0.914000	0.54420	6.595000	0.74109	2.782000	0.95742	0.557000	0.71058	CAA	USP48	-	NULL		0.393	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	G	NM_032236		22056230	-1	no_errors	ENST00000308271	ensembl	human	known	70_37	missense	SNP	0.526	C
USP48	84196	genome.wustl.edu	37	1	22056234	22056234	+	Silent	SNP	T	T	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:22056234T>C	ENST00000308271.9	-	10	1911	c.1263A>G	c.(1261-1263)caA>caG	p.Q421Q	USP48_ENST00000400301.1_Silent_p.Q421Q|USP48_ENST00000421625.2_Silent_p.Q421Q|USP48_ENST00000529637.1_Silent_p.Q420Q	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	421	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTTCTTGAGTTTGCAGTCTAT	0.393																																																	0													197.0	175.0	182.0					1																	22056234		2203	4300	6503	SO:0001819	synonymous_variant	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1263A>G	1.37:g.22056234T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.Q421	ENST00000308271.9	37	c.1263	CCDS30623.1	1																																																																																			USP48	-	pfscan_Peptidase_C19		0.393	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	T	NM_032236		22056234	-1	no_errors	ENST00000308271	ensembl	human	known	70_37	silent	SNP	0.435	C
USP50	373509	genome.wustl.edu	37	15	50833424	50833424	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:50833424G>C	ENST00000532404.1	-	4	655	c.482C>G	c.(481-483)tCt>tGt	p.S161C	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	166	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TCTCTGAGTAGATCCTTTCTC	0.398																																																	0													111.0	106.0	108.0					15																	50833424		1918	4124	6042	SO:0001583	missense	373509			AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"""Ubiquitin-specific peptidases"""	20079	protein-coding gene	gene with protein product			"""ubiquitin specific protease 50"""			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.482C>G	15.37:g.50833424G>C	ENSP00000434676:p.Ser161Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PP86	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S161C	ENST00000532404.1	37	c.482	CCDS53944.1	15	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096147	0.56075	.	.	ENSG00000170236	ENST00000532404	T	0.31510	1.49	5.44	4.51	0.55191	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.689090	0.02470	N	0.087406	T	0.52693	0.1750	L	0.60012	1.86	0.09310	N	1	D	0.57571	0.98	P	0.59595	0.86	T	0.41556	-0.9502	10	0.62326	D	0.03	-9.766	11.8831	0.52586	0.0844:0.0:0.9156:0.0	.	166	Q70EL3	UBP50_HUMAN	C	161	ENSP00000434676:S161C	ENSP00000434676:S161C	S	-	2	0	USP50	48620716	0.211000	0.23529	0.005000	0.12908	0.004000	0.04260	2.780000	0.47742	2.530000	0.85305	0.555000	0.69702	TCT	USP50	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.398	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP50	HGNC	protein_coding	OTTHUMT00000395249.1	G			50833424	-1	no_errors	ENST00000532404	ensembl	human	known	70_37	missense	SNP	0.006	C
USPL1	10208	genome.wustl.edu	37	13	31232866	31232866	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:31232866G>C	ENST00000255304.4	+	9	2994	c.2652G>C	c.(2650-2652)caG>caC	p.Q884H		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	884					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TGGAAGGTCAGATTCATAAAC	0.418																																					Ovarian(60;318 1180 1554 28110 31601)												0													64.0	62.0	63.0					13																	31232866		2203	4300	6503	SO:0001583	missense	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2652G>C	13.37:g.31232866G>C	ENSP00000255304:p.Gln884His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	pfscan_Peptidase_C19	p.Q884H	ENST00000255304.4	37	c.2652	CCDS9336.1	13	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037381	0.54896	.	.	ENSG00000132952	ENST00000255304	T	0.20598	2.06	5.76	2.59	0.31030	.	0.303283	0.34067	N	0.004290	T	0.20373	0.0490	M	0.62723	1.935	0.30586	N	0.762031	B	0.24368	0.102	B	0.25759	0.063	T	0.14117	-1.0484	10	0.72032	D	0.01	-3.349	6.3853	0.21558	0.2382:0.1598:0.602:0.0	.	884	Q5W0Q7	USPL1_HUMAN	H	884	ENSP00000255304:Q884H	ENSP00000255304:Q884H	Q	+	3	2	USPL1	30130866	1.000000	0.71417	0.998000	0.56505	0.795000	0.44927	1.635000	0.37134	0.754000	0.32968	0.655000	0.94253	CAG	USPL1	-	NULL		0.418	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	G	NM_005800		31232866	+1	no_errors	ENST00000255304	ensembl	human	known	70_37	missense	SNP	0.996	C
UTP14A	10813	genome.wustl.edu	37	X	129055461	129055461	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:129055461G>C	ENST00000394422.3	+	11	1274	c.1246G>C	c.(1246-1248)Gaa>Caa	p.E416Q	UTP14A_ENST00000371051.5_Missense_Mutation_p.E362Q|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000498179.1_3'UTR|UTP14A_ENST00000425117.2_Missense_Mutation_p.E364Q|UTP14A_ENST00000371042.3_Missense_Mutation_p.E248Q	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	416					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						ACCAGTGGCAGAAGAAGAAAT	0.488																																																	0													60.0	56.0	57.0					X																	129055461		2203	4300	6503	SO:0001583	missense	10813			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1246G>C	X.37:g.129055461G>C	ENSP00000377944:p.Glu416Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.E416Q	ENST00000394422.3	37	c.1246	CCDS14615.1	X	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727138	0.48833	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000427972;ENST00000371042	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.88	4.13	0.48395	.	0.272968	0.40144	N	0.001174	T	0.40347	0.1113	M	0.86953	2.85	0.09310	N	0.999996	D;P;P;P	0.54601	0.967;0.954;0.954;0.954	P;P;P;P	0.54590	0.642;0.653;0.653;0.756	T	0.34551	-0.9824	10	0.31617	T	0.26	-6.5281	9.8133	0.40838	0.2284:0.0:0.7716:0.0	.	362;364;364;416	F8WD00;E9PEL7;B4DQ08;Q9BVJ6	.;.;.;UT14A_HUMAN	Q	364;416;362;248;248	ENSP00000388669:E364Q;ENSP00000377944:E416Q;ENSP00000360090:E362Q;ENSP00000413187:E248Q;ENSP00000360081:E248Q	ENSP00000360081:E248Q	E	+	1	0	UTP14A	128883142	0.056000	0.20664	0.002000	0.10522	0.036000	0.12997	2.036000	0.41165	0.634000	0.30469	0.544000	0.68410	GAA	UTP14A	-	pfam_SSU_processome_Utp14		0.488	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UTP14A	HGNC	protein_coding	OTTHUMT00000058221.1	G	NM_006649		129055461	+1	no_errors	ENST00000394422	ensembl	human	known	70_37	missense	SNP	0.023	C
RAD21	5885	genome.wustl.edu	37	8	117861161	117861161	+	Intron	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:117861161C>A	ENST00000297338.2	-	13	1992				RAD21_ENST00000523986.1_Intron|UTP23_ENST00000517820.1_Missense_Mutation_p.P75T|RAD21_ENST00000518055.1_Intron|UTP23_ENST00000520733.1_Missense_Mutation_p.S27Y|RAD21_ENST00000517749.1_Intron	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)						apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GAAGCATTTTCCTCTGAGACA	0.408																																																	0													168.0	155.0	159.0					8																	117861161		2203	4300	6503	SO:0001627	intron_variant	84294			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1704+23G>T	8.37:g.117861161C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	NULL	p.P75T	ENST00000297338.2	37	c.223	CCDS6321.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.853|7.853	0.724453|0.724453	0.15439|0.15439	.|.	.|.	ENSG00000147679|ENSG00000147679	ENST00000517820|ENST00000520733	.|.	.|.	.|.	3.98|3.98	-7.95|-7.95	0.01148|0.01148	.|.	.|.	.|.	.|.	.|.	T|T	0.33089|0.33089	0.0851|0.0851	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50136|0.50136	-0.8863|-0.8863	5|5	0.19590|0.87932	T|D	0.45|0	.|.	5.5646|5.5646	0.17163|0.17163	0.0:0.3861:0.1467:0.4672|0.0:0.3861:0.1467:0.4672	.|.	.|.	.|.	.|.	T|Y	75|27	.|.	ENSP00000427767:P75T|ENSP00000429384:S27Y	P|S	+|+	1|2	0|0	UTP23|UTP23	117930342|117930342	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.087000|0.087000	0.18053|0.18053	-0.306000|-0.306000	0.08178|0.08178	-1.326000|-1.326000	0.02266|0.02266	-0.459000|-0.459000	0.05422|0.05422	CCT|TCC	UTP23	-	NULL		0.408	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP23	HGNC	protein_coding	OTTHUMT00000381184.1	C	NM_006265		117861161	+1	no_errors	ENST00000517820	ensembl	human	putative	70_37	missense	SNP	0.000	A
VANGL2	57216	genome.wustl.edu	37	1	160393995	160393995	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:160393995C>T	ENST00000368061.2	+	7	1701	c.1227C>T	c.(1225-1227)acC>acT	p.T409T		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	409					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCGGACCACCAAGCAGCAGC	0.602																																																	0													136.0	114.0	121.0					1																	160393995		2203	4300	6503	SO:0001819	synonymous_variant	57216			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1227C>T	1.37:g.160393995C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVE9|Q5T212	Silent	SNP	pfam_Strabismus,pirsf_Strabismus	p.T409	ENST00000368061.2	37	c.1227	CCDS30915.1	1																																																																																			VANGL2	-	pfam_Strabismus,pirsf_Strabismus		0.602	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	C	NM_020335		160393995	+1	no_errors	ENST00000368061	ensembl	human	known	70_37	silent	SNP	1.000	T
VASH2	79805	genome.wustl.edu	37	1	213125052	213125052	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:213125052C>T	ENST00000517399.1	+	1	168	c.168C>T	c.(166-168)ttC>ttT	p.F56F	VASH2_ENST00000366965.2_Silent_p.F56F|VASH2_ENST00000366964.3_5'UTR|VASH2_ENST00000366967.2_Intron|VASH2_ENST00000366966.2_5'UTR|VASH2_ENST00000366968.4_5'UTR|VASH2_ENST00000271776.4_Intron			Q86V25	VASH2_HUMAN	vasohibin 2	56					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		AGAGCGGCTTCCCCATCGACA	0.667																																																	0																																										SO:0001819	synonymous_variant	79805			AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			ENSG00000143494	ENSG00000143494			25723	protein-coding gene	gene with protein product		610471				16528006	Standard	XR_247041		Approved	FLJ12505	uc001hjw.3	Q86V25	OTTHUMG00000036925	ENST00000517399.1:c.168C>T	1.37:g.213125052C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Silent	SNP	NULL	p.F56	ENST00000517399.1	37	c.168	CCDS1511.1	1																																																																																			VASH2	-	NULL		0.667	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	VASH2	HGNC	protein_coding	OTTHUMT00000381686.1	C	NM_024749		213125052	+1	no_errors	ENST00000517399	ensembl	human	known	70_37	silent	SNP	1.000	T
VASN	114990	genome.wustl.edu	37	16	4431256	4431256	+	Silent	SNP	C	C	T	rs563318292		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:4431256C>T	ENST00000304735.3	+	2	533	c.378C>T	c.(376-378)ctC>ctT	p.L126L	CORO7_ENST00000423908.2_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000539968.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	126				Missing (in Ref. 2; AAQ88665). {ECO:0000305}.	cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						TGCGGCGCCTCGAGCGCCTCT	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14447	0.0		0.0	False		,,,				2504	0.0																0													26.0	24.0	24.0					16																	4431256		2193	4298	6491	SO:0001819	synonymous_variant	114990			AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"""slit-like 2 (Drosophila)"""	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.378C>T	16.37:g.4431256C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.L126	ENST00000304735.3	37	c.378	CCDS10514.1	16																																																																																			VASN	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.637	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASN	HGNC	protein_coding	OTTHUMT00000251632.1	C	NM_138440		4431256	+1	no_errors	ENST00000304735	ensembl	human	known	70_37	silent	SNP	0.058	T
VCAN	1462	genome.wustl.edu	37	5	82817006	82817006	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:82817006C>G	ENST00000265077.3	+	7	3446	c.2881C>G	c.(2881-2883)Caa>Gaa	p.Q961E	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.Q913E|VCAN_ENST00000342785.4_Missense_Mutation_p.Q961E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	961	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TAGTAGCACCCAAGAGCCTAC	0.433																																																	0													128.0	123.0	125.0					5																	82817006		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2881C>G	5.37:g.82817006C>G	ENSP00000265077:p.Gln961Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.Q961E	ENST00000265077.3	37	c.2881	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768641	0.31320	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.19938	2.11;2.11;2.11	5.78	5.78	0.91487	.	0.114416	0.39020	N	0.001488	T	0.18635	0.0447	L	0.56769	1.78	0.33313	D	0.566271	B;P	0.35077	0.264;0.483	B;B	0.28011	0.085;0.084	T	0.17653	-1.0362	10	0.14252	T	0.57	.	12.5035	0.55968	0.1666:0.8334:0.0:0.0	.	961;961	P13611-3;P13611	.;CSPG2_HUMAN	E	961;961;913	ENSP00000265077:Q961E;ENSP00000342768:Q961E;ENSP00000425959:Q913E	ENSP00000265077:Q961E	Q	+	1	0	VCAN	82852762	0.005000	0.15991	1.000000	0.80357	0.871000	0.50021	1.051000	0.30417	2.732000	0.93576	0.591000	0.81541	CAA	VCAN	-	NULL		0.433	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	C	NM_004385		82817006	+1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.990	G
VCAN	1462	genome.wustl.edu	37	5	82836182	82836182	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:82836182G>A	ENST00000265077.3	+	8	7925	c.7360G>A	c.(7360-7362)Gaa>Aaa	p.E2454K	VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E1467K|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2454	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AACCAGACAAGAAAGCAGCAC	0.443																																																	0													114.0	110.0	111.0					5																	82836182		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7360G>A	5.37:g.82836182G>A	ENSP00000265077:p.Glu2454Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.E2454K	ENST00000265077.3	37	c.7360	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	8.626	0.892632	0.17613	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	D;D	0.85339	-1.94;-1.97	6.17	3.47	0.39725	.	.	.	.	.	T	0.70570	0.3239	N	0.22421	0.69	0.19300	N	0.99998	B;B	0.28933	0.228;0.146	B;B	0.25140	0.058;0.038	T	0.53927	-0.8369	9	0.07813	T	0.8	.	7.8742	0.29584	0.356:0.0:0.644:0.0	.	1467;2454	P13611-2;P13611	.;CSPG2_HUMAN	K	2454;1467	ENSP00000265077:E2454K;ENSP00000340062:E1467K	ENSP00000265077:E2454K	E	+	1	0	VCAN	82871938	0.003000	0.15002	0.011000	0.14972	0.315000	0.28087	0.007000	0.13174	0.494000	0.27859	0.655000	0.94253	GAA	VCAN	-	NULL		0.443	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	G	NM_004385		82836182	+1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.027	A
VCPIP1	80124	genome.wustl.edu	37	8	67579043	67579043	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:67579043C>G	ENST00000310421.4	-	1	409	c.151G>C	c.(151-153)Gat>Cat	p.D51H	C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	51					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CACTTCGGATCCGGGCAGCTC	0.647																																					NSCLC(179;265 2915 6144 43644)												0													20.0	24.0	23.0					8																	67579043		2202	4300	6502	SO:0001583	missense	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.151G>C	8.37:g.67579043C>G	ENSP00000309031:p.Asp51His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.D51H	ENST00000310421.4	37	c.151	CCDS6192.1	8	.	.	.	.	.	.	.	.	.	.	C	33	5.262100	0.95368	.	.	ENSG00000175073	ENST00000310421	T	0.39787	1.06	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.57961	0.2089	L	0.59436	1.845	0.80722	D	1	D	0.62365	0.991	P	0.55112	0.769	T	0.58387	-0.7645	10	0.87932	D	0	-17.3748	20.3409	0.98764	0.0:1.0:0.0:0.0	.	51	Q96JH7	VCIP1_HUMAN	H	51	ENSP00000309031:D51H	ENSP00000309031:D51H	D	-	1	0	VCPIP1	67741597	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.330000	0.79181	2.814000	0.96858	0.655000	0.94253	GAT	VCPIP1	-	NULL		0.647	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	C			67579043	-1	no_errors	ENST00000310421	ensembl	human	known	70_37	missense	SNP	1.000	G
VEGFC	7424	genome.wustl.edu	37	4	177713327	177713327	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:177713327C>G	ENST00000280193.2	-	1	554	c.139G>C	c.(139-141)Gag>Cag	p.E47Q		NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	47					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.E47K(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ACCGTGGCCTCGCCCGCGTCG	0.721																																																	1	Substitution - Missense(1)	cervix(1)											18.0	22.0	21.0					4																	177713327		1871	4086	5957	SO:0001583	missense	7424			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.139G>C	4.37:g.177713327C>G	ENSP00000280193:p.Glu47Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9Q8	Missense_Mutation	SNP	pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor	p.E47Q	ENST00000280193.2	37	c.139	CCDS43285.1	4	.	.	.	.	.	.	.	.	.	.	C	14.56	2.573310	0.45902	.	.	ENSG00000150630	ENST00000280193	.	.	.	4.3	4.3	0.51218	.	0.089559	0.43110	D	0.000613	T	0.50086	0.1595	L	0.57536	1.79	0.35653	D	0.81189	P	0.34815	0.47	B	0.27170	0.077	T	0.63047	-0.6724	9	0.38643	T	0.18	-12.749	13.4717	0.61285	0.0:1.0:0.0:0.0	.	47	P49767	VEGFC_HUMAN	Q	47	.	ENSP00000280193:E47Q	E	-	1	0	VEGFC	177950321	0.959000	0.32827	0.997000	0.53966	0.347000	0.29111	2.139000	0.42149	1.938000	0.56188	0.305000	0.20034	GAG	VEGFC	-	NULL		0.721	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1	C	NM_005429		177713327	-1	no_errors	ENST00000280193	ensembl	human	known	70_37	missense	SNP	0.963	G
VLDLR	7436	genome.wustl.edu	37	9	2643322	2643322	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:2643322C>G	ENST00000382100.3	+	5	967	c.611C>G	c.(610-612)tCc>tGc	p.S204C	RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Missense_Mutation_p.S204C	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	204	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		AGCACCTCCTCCTGCATCCCC	0.587																																																	0													80.0	66.0	70.0					9																	2643322		2203	4300	6503	SO:0001583	missense	7436				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.611C>G	9.37:g.2643322C>G	ENSP00000371532:p.Ser204Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S204C	ENST00000382100.3	37	c.611	CCDS6446.1	9	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345054	0.82022	.	.	ENSG00000147852	ENST00000382100;ENST00000382096;ENST00000382099;ENST00000382092	D;D;D	0.95724	-3.79;-3.79;-3.79	5.5	4.6	0.57074	.	0.125962	0.36740	N	0.002421	D	0.95516	0.8543	L	0.41906	1.305	0.48511	D	0.999668	D;D;P	0.67145	0.996;0.996;0.937	P;D;P	0.65684	0.896;0.937;0.755	D	0.95213	0.8327	10	0.59425	D	0.04	.	10.5868	0.45288	0.0:0.7951:0.1335:0.0713	.	204;204;204	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	C	204;163;204;83	ENSP00000371532:S204C;ENSP00000371528:S163C;ENSP00000371531:S204C	ENSP00000371524:S83C	S	+	2	0	VLDLR	2633322	0.948000	0.32251	0.998000	0.56505	0.994000	0.84299	2.570000	0.45981	1.551000	0.49450	0.655000	0.94253	TCC	VLDLR	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.587	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VLDLR	HGNC	protein_coding	OTTHUMT00000051519.2	C	NM_003383		2643322	+1	no_errors	ENST00000382100	ensembl	human	known	70_37	missense	SNP	0.976	G
VMO1	284013	genome.wustl.edu	37	17	4688890	4688890	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:4688890G>A	ENST00000328739.5	-	3	455	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	VMO1_ENST00000416307.2_3'UTR|VMO1_ENST00000354194.4_3'UTR|VMO1_ENST00000441199.2_3'UTR	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	126						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						GCCTCCACGCGAAGCGAGAAA	0.657																																																	0													51.0	45.0	47.0					17																	4688890		2203	4300	6503	SO:0001583	missense	284013			AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.376C>T	17.37:g.4688890G>A	ENSP00000328397:p.Arg126Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	pfam_VOMI,superfamily_VOMI	p.R126C	ENST00000328739.5	37	c.376	CCDS11055.1	17	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093467	0.56075	.	.	ENSG00000182853	ENST00000328739	T	0.51325	0.71	5.0	4.02	0.46733	.	0.055348	0.64402	D	0.000004	T	0.70919	0.3279	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75780	-0.3197	10	0.87932	D	0	-27.9606	10.875	0.46906	0.0:0.0:0.6586:0.3414	.	126	Q7Z5L0	VMO1_HUMAN	C	126	ENSP00000328397:R126C	ENSP00000328397:R126C	R	-	1	0	VMO1	4635630	0.936000	0.31750	0.806000	0.32338	0.310000	0.27922	1.749000	0.38319	1.226000	0.43582	0.561000	0.74099	CGC	VMO1	-	pfam_VOMI,superfamily_VOMI		0.657	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMO1	HGNC	protein_coding	OTTHUMT00000439587.1	G	NM_182566		4688890	-1	no_errors	ENST00000328739	ensembl	human	known	70_37	missense	SNP	0.916	A
VMO1	284013	genome.wustl.edu	37	17	4689317	4689317	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:4689317C>T	ENST00000328739.5	-	2	305	c.226G>A	c.(226-228)Gac>Aac	p.D76N	VMO1_ENST00000416307.2_Missense_Mutation_p.D76N|VMO1_ENST00000354194.4_Intron|VMO1_ENST00000441199.2_Missense_Mutation_p.D76N|GLTPD2_ENST00000331264.7_5'Flank	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	76						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						AGTGCAGTGTCGTCGCCAGGA	0.617																																																	0													747.0	677.0	701.0					17																	4689317		2203	4300	6503	SO:0001583	missense	284013			AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.226G>A	17.37:g.4689317C>T	ENSP00000328397:p.Asp76Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	pfam_VOMI,superfamily_VOMI	p.D76N	ENST00000328739.5	37	c.226	CCDS11055.1	17	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134333	0.56828	.	.	ENSG00000182853	ENST00000328739;ENST00000416307;ENST00000441199	T;T;T	0.54071	0.59;0.59;0.59	4.43	4.43	0.53597	.	0.050411	0.85682	D	0.000000	T	0.66733	0.2819	L	0.58925	1.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.97110	0.94;1.0;0.804	T	0.67538	-0.5645	10	0.51188	T	0.08	-37.0618	12.404	0.55428	0.0:1.0:0.0:0.0	.	76;76;76	C9JQ15;E9PAU9;Q7Z5L0	.;.;VMO1_HUMAN	N	76	ENSP00000328397:D76N;ENSP00000390450:D76N;ENSP00000408166:D76N	ENSP00000328397:D76N	D	-	1	0	VMO1	4636057	0.998000	0.40836	0.918000	0.36340	0.014000	0.08584	4.116000	0.57871	2.286000	0.76751	0.563000	0.77884	GAC	VMO1	-	pfam_VOMI,superfamily_VOMI		0.617	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMO1	HGNC	protein_coding	OTTHUMT00000439587.1	C	NM_182566		4689317	-1	no_errors	ENST00000328739	ensembl	human	known	70_37	missense	SNP	0.997	T
VN1R1	57191	genome.wustl.edu	37	19	57967758	57967758	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:57967758G>C	ENST00000321039.3	-	1	96	c.97C>G	c.(97-99)Caa>Gaa	p.Q33E	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	33					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AGGGGATGTTGATTTTCATTG	0.368																																																	0													58.0	60.0	59.0					19																	57967758		2203	4300	6503	SO:0001583	missense	57191			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.97C>G	19.37:g.57967758G>C	ENSP00000322339:p.Gln33Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.Q33E	ENST00000321039.3	37	c.97	CCDS12951.1	19	.	.	.	.	.	.	.	.	.	.	G	3.114	-0.182012	0.06340	.	.	ENSG00000178201	ENST00000321039	T	0.35789	1.29	3.12	-3.07	0.05363	.	.	.	.	.	T	0.12347	0.0300	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.31696	-0.9934	9	0.07482	T	0.82	.	3.3823	0.07259	0.4993:0.0:0.3053:0.1954	.	33	Q9GZP7	VN1R1_HUMAN	E	33	ENSP00000322339:Q33E	ENSP00000322339:Q33E	Q	-	1	0	VN1R1	62659570	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.280000	0.08468	-0.384000	0.07845	-0.944000	0.02675	CAA	VN1R1	-	NULL		0.368	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R1	HGNC	protein_coding	OTTHUMT00000466464.1	G	NM_020633		57967758	-1	no_errors	ENST00000321039	ensembl	human	known	70_37	missense	SNP	0.000	C
VNN3	55350	genome.wustl.edu	37	6	133045852	133045852	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:133045852G>C	ENST00000207771.3	-	6	1165	c.1093C>G	c.(1093-1095)Ctg>Gtg	p.L365V	VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000425515.2_3'UTR			Q9NY84	VNN3_HUMAN	vanin 3	366					nitrogen compound metabolic process (GO:0006807)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		TGACAACACAGATCTTTCTGG	0.403																																																	0													42.0	41.0	41.0					6																	133045852		876	1991	2867	SO:0001583	missense	55350			AJ238982		6q23.2	2014-04-09	2010-11-15	2010-11-15	ENSG00000093134	ENSG00000093134	3.5.1.92	"""Vanins"""	16431	other	unknown		606592				10501839, 19932582, 19322213	Standard	NR_028290		Approved	HSA238982	uc010kfs.3	Q9NY84	OTTHUMG00000015589	ENST00000207771.3:c.1093C>G	6.37:g.133045852G>C	ENSP00000440594:p.Leu365Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2DFY0|B2DFY1|B2DFY3|B2DFY5|B2DFY6|B2DFY7|B2DFY8|Q3SX90|Q9BQY2	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.L365V	ENST00000207771.3	37	c.1093		6	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964826	0.34659	.	.	ENSG00000093134	ENST00000207771	D	0.95447	-3.71	4.88	3.09	0.35607	.	0.000000	0.51477	U	0.000085	D	0.93966	0.8068	.	.	.	0.80722	D	1	D	0.56035	0.974	P	0.51701	0.677	D	0.92531	0.6033	9	0.52906	T	0.07	-46.1106	10.8575	0.46808	0.1537:0.0:0.8463:0.0	.	366	Q9NY84	VNN3_HUMAN	V	365	ENSP00000440594:L365V	ENSP00000440594:L365V	L	-	1	2	VNN3	133087545	0.989000	0.36119	0.762000	0.31397	0.070000	0.16714	2.274000	0.43390	0.581000	0.29539	0.585000	0.79938	CTG	VNN3	-	pirsf_Biotinidase_euk		0.403	VNN3-201	KNOWN	basic|appris_principal	protein_coding	VNN3	HGNC	protein_coding		G	NR_028290		133045852	-1	no_errors	ENST00000207771	ensembl	human	known	70_37	missense	SNP	0.993	C
VPS13B	157680	genome.wustl.edu	37	8	100147948	100147948	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:100147948C>T	ENST00000358544.2	+	11	1661	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L	VPS13B_ENST00000395996.1_Missense_Mutation_p.S517L|VPS13B_ENST00000355155.1_Missense_Mutation_p.S517L|VPS13B_ENST00000357162.2_Missense_Mutation_p.S517L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	517					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATCTTGGATTCAACTCATCAT	0.348																																					Colon(161;2205 2542 7338 31318)												0													79.0	72.0	74.0					8																	100147948		2203	4299	6502	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1550C>T	8.37:g.100147948C>T	ENSP00000351346:p.Ser517Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.S517L	ENST00000358544.2	37	c.1550	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	C	9.796	1.179164	0.21787	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.75704	-0.96;-0.24;-0.24;0.04	5.36	4.47	0.54385	.	0.283439	0.30177	N	0.010227	T	0.57007	0.2024	N	0.14661	0.345	0.32983	D	0.523973	B;B;B;B	0.19200	0.034;0.02;0.01;0.0	B;B;B;B	0.18561	0.022;0.01;0.022;0.0	T	0.56872	-0.7907	10	0.11182	T	0.66	.	15.5191	0.75851	0.0:0.7385:0.2615:0.0	.	517;517;517;517	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;VP13B_HUMAN;.;.	L	517	ENSP00000347281:S517L;ENSP00000349685:S517L;ENSP00000351346:S517L;ENSP00000379318:S517L	ENSP00000347281:S517L	S	+	2	0	VPS13B	100217124	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	2.800000	0.47900	1.365000	0.46057	0.655000	0.94253	TCA	VPS13B	-	NULL		0.348	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	C	NM_184042		100147948	+1	no_errors	ENST00000358544	ensembl	human	known	70_37	missense	SNP	1.000	T
VPS13B	157680	genome.wustl.edu	37	8	100844848	100844848	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:100844848C>T	ENST00000358544.2	+	52	9768	c.9657C>T	c.(9655-9657)ctC>ctT	p.L3219L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L3194L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3219					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGTACCCCTCGGGAATTTCC	0.473																																					Colon(161;2205 2542 7338 31318)												0													56.0	58.0	58.0					8																	100844848		2203	4300	6503	SO:0001819	synonymous_variant	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9657C>T	8.37:g.100844848C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	pfam_Autophagy-rel_C	p.L3219	ENST00000358544.2	37	c.9657	CCDS6280.1	8																																																																																			VPS13B	-	NULL		0.473	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	C	NM_184042		100844848	+1	no_errors	ENST00000358544	ensembl	human	known	70_37	silent	SNP	0.000	T
VPS13C	54832	genome.wustl.edu	37	15	62212712	62212712	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:62212712G>C	ENST00000261517.5	-	56	7270	c.7197C>G	c.(7195-7197)ttC>ttG	p.F2399L	VPS13C_ENST00000395896.4_Missense_Mutation_p.F2399L|VPS13C_ENST00000249837.3_Missense_Mutation_p.F2356L|VPS13C_ENST00000395898.3_Missense_Mutation_p.F2356L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTAAATTGTTGAAAACATTAA	0.274																																																	0													54.0	56.0	55.0					15																	62212712		2202	4293	6495	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7197C>G	15.37:g.62212712G>C	ENSP00000261517:p.Phe2399Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.F2399L	ENST00000261517.5	37	c.7197	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	G	4.700	0.130202	0.08981	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.39406	1.08;1.08;1.08	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	L	0.39147	1.195	0.58432	D	0.999997	B;B;B;B	0.15930	0.007;0.015;0.015;0.009	B;B;B;B	0.19391	0.017;0.025;0.017;0.011	T	0.09552	-1.0669	10	0.02654	T	1	.	12.2601	0.54645	0.077:0.0:0.923:0.0	.	2356;2399;2356;2399	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	2356;2399;2399;2399	ENSP00000249837:F2356L;ENSP00000261517:F2399L;ENSP00000379233:F2399L	ENSP00000249837:F2356L	F	-	3	2	VPS13C	60000004	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.143000	0.50608	2.701000	0.92244	0.650000	0.86243	TTC	VPS13C	-	NULL		0.274	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	G	NM_017684		62212712	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	missense	SNP	1.000	C
VPS52	6293	genome.wustl.edu	37	6	33239313	33239313	+	Intron	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:33239313G>A	ENST00000445902.2	-	1	309				RPS18_ENST00000474973.1_5'Flank|VPS52_ENST00000482399.1_Missense_Mutation_p.S47L|RPS18_ENST00000439602.2_5'Flank|VPS52_ENST00000478934.1_Intron|VPS52_ENST00000436044.2_Intron	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)						ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AGGTCTTTCTGAAGCTAGGAG	0.587																																																	0													15.0	14.0	15.0					6																	33239313		2186	4271	6457	SO:0001627	intron_variant	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.90+49C>T	6.37:g.33239313G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	NULL	p.S47L	ENST00000445902.2	37	c.140	CCDS4770.2	6	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257749	0.22965	.	.	ENSG00000223501	ENST00000482399	.	.	.	4.19	2.38	0.29361	.	.	.	.	.	T	0.22898	0.0553	.	.	.	0.18873	N	0.999981	.	.	.	.	.	.	T	0.20672	-1.0268	5	0.87932	D	0	.	5.7985	0.18399	0.1056:0.1965:0.6979:0.0	.	.	.	.	L	47	.	ENSP00000436612:S47L	S	-	2	0	VPS52	33347291	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.807000	0.27140	0.712000	0.32039	0.596000	0.82720	TCA	VPS52	-	NULL		0.587	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS52	HGNC	protein_coding	OTTHUMT00000076598.2	G	NM_022553		33239313	-1	no_errors	ENST00000482399	ensembl	human	putative	70_37	missense	SNP	0.001	A
VTA1	51534	genome.wustl.edu	37	6	142519611	142519611	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:142519611C>T	ENST00000367630.4	+	6	614	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L	VTA1_ENST00000491881.1_3'UTR|VTA1_ENST00000452973.2_Silent_p.L128L|VTA1_ENST00000367621.1_Silent_p.L128L	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	186	Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		AGCAGCCTCTCTGCCCACTCA	0.418																																																	0													100.0	88.0	92.0					6																	142519611		2203	4300	6503	SO:0001819	synonymous_variant	51534			AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.556C>T	6.37:g.142519611C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Silent	SNP	NULL	p.L186	ENST00000367630.4	37	c.556	CCDS5197.1	6																																																																																			VTA1	-	NULL		0.418	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTA1	HGNC	protein_coding	OTTHUMT00000042483.2	C	NM_016485		142519611	+1	no_errors	ENST00000367630	ensembl	human	known	70_37	silent	SNP	0.712	T
VTI1A	143187	genome.wustl.edu	37	10	114287026	114287026	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:114287026C>T	ENST00000393077.2	+	4	458				VTI1A_ENST00000432306.1_Intron	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A						intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		AGCAGCAACTCATGTGGAAGC	0.468			T	TCF7L2	colorectal																																			Dom	yes		10	10q25.2	143187	vesicle transport through interaction with t-SNAREs homolog 1A		E	0																																										SO:0001627	intron_variant	143187			BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"""vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"""			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.342+103C>T	10.37:g.114287026C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A307|B4E137|Q5W0D7	RNA	SNP	-	NULL	ENST00000393077.2	37	NULL	CCDS7575.2	10																																																																																			VTI1A	-	-		0.468	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTI1A	HGNC	protein_coding	OTTHUMT00000050397.2	C			114287026	+1	no_errors	ENST00000480057	ensembl	human	known	70_37	rna	SNP	1.000	T
VTRNA2-1	100126299	genome.wustl.edu	37	5	135416194	135416194	+	lincRNA	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:135416194C>T	ENST00000602301.1	-	0	92					NR_030583.2				vault RNA 2-1																		ATAAAAGGGTCAGTAAGCACC	0.443																																																	0													59.0	55.0	56.0					5																	135416194		1568	3582	5150			100126299					5q31.1	2013-05-03	2011-04-11	2011-04-11	ENSG00000202030	ENSG00000270123		"""Vault RNAs (vtRNAs)"""	37054	non-coding RNA	RNA, vault		614938	"""microRNA 886"", ""vault RNA 2"""	MIR886, MIRN886, VTRNA2		19298825, 19491402, 22926522, 22058117	Standard	NR_030583		Approved	vtRNA2, hvg-5, CBL-3, hsa-mir-886, nc886	uc021ydy.1				5.37:g.135416194C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000602301.1	37	NULL		5																																																																																			VTRNA2-1	-	-		0.443	VTRNA2-1-001	KNOWN	basic	lincRNA	VTRNA2-1	HGNC	lincRNA	OTTHUMT00000467708.1	C	NR_030583		135416194	-1	no_errors	ENST00000365160	ensembl	human	known	70_37	rna	SNP	0.996	T
VTRNA2-1	100126299	genome.wustl.edu	37	5	135416242	135416242	+	lincRNA	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:135416242G>C	ENST00000602301.1	-	0	44					NR_030583.2				vault RNA 2-1																		TGGACAGATAGAAAGTCCGGC	0.493																																																	0													63.0	59.0	60.0					5																	135416242		1568	3582	5150			100126299					5q31.1	2013-05-03	2011-04-11	2011-04-11	ENSG00000202030	ENSG00000270123		"""Vault RNAs (vtRNAs)"""	37054	non-coding RNA	RNA, vault		614938	"""microRNA 886"", ""vault RNA 2"""	MIR886, MIRN886, VTRNA2		19298825, 19491402, 22926522, 22058117	Standard	NR_030583		Approved	vtRNA2, hvg-5, CBL-3, hsa-mir-886, nc886	uc021ydy.1				5.37:g.135416242G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000602301.1	37	NULL		5																																																																																			VTRNA2-1	-	-		0.493	VTRNA2-1-001	KNOWN	basic	lincRNA	VTRNA2-1	HGNC	lincRNA	OTTHUMT00000467708.1	G	NR_030583		135416242	-1	no_errors	ENST00000365160	ensembl	human	known	70_37	rna	SNP	0.000	C
VWCE	220001	genome.wustl.edu	37	11	61049276	61049276	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:61049276C>G	ENST00000335613.5	-	7	1155	c.769G>C	c.(769-771)Gac>Cac	p.D257H		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	257	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GACACGCGGTCAGCTCGGAGC	0.677																																																	0													95.0	77.0	83.0					11																	61049276		2203	4299	6502	SO:0001583	missense	220001			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.769G>C	11.37:g.61049276C>G	ENSP00000334186:p.Asp257His	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	pfam_VWF_C,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C	p.D257H	ENST00000335613.5	37	c.769	CCDS8002.1	11	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673256	0.88445	.	.	ENSG00000167992	ENST00000335613	D	0.93712	-3.27	4.71	4.71	0.59529	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.284388	0.26026	N	0.026787	D	0.97015	0.9025	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97752	1.0215	10	0.72032	D	0.01	.	16.8443	0.85976	0.0:1.0:0.0:0.0	.	257	Q96DN2	VWCE_HUMAN	H	257	ENSP00000334186:D257H	ENSP00000334186:D257H	D	-	1	0	VWCE	60805852	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	3.736000	0.55052	2.353000	0.79882	0.561000	0.74099	GAC	VWCE	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.677	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWCE	HGNC	protein_coding	OTTHUMT00000398811.1	C	NM_152718		61049276	-1	no_errors	ENST00000335613	ensembl	human	known	70_37	missense	SNP	1.000	G
VWF	7450	genome.wustl.edu	37	12	6128108	6128108	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:6128108C>T	ENST00000261405.5	-	28	4730	c.4476G>A	c.(4474-4476)agG>agA	p.R1492R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1492					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCATGGAGTTCCTCTTGGGCC	0.592																																																	0													33.0	37.0	36.0					12																	6128108		2203	4300	6503	SO:0001819	synonymous_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4476G>A	12.37:g.6128108C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TCE8|Q99806	Silent	SNP	pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.R1492	ENST00000261405.5	37	c.4476	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF		0.592	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	C	NM_000552		6128108	-1	no_errors	ENST00000261405	ensembl	human	known	70_37	silent	SNP	0.001	T
VWF	7450	genome.wustl.edu	37	12	6230362	6230362	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:6230362C>G	ENST00000261405.5	-	3	452	c.198G>C	c.(196-198)caG>caC	p.Q66H	VWF_ENST00000572068.1_Missense_Mutation_p.Q103H|VWF_ENST00000545906.1_5'Flank	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	66	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGAGCGTTTCTGGCAGCCCC	0.572																																																	0													68.0	66.0	67.0					12																	6230362		2203	4300	6503	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.198G>C	12.37:g.6230362C>G	ENSP00000261405:p.Gln66His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TCE8|Q99806	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.Q66H	ENST00000261405.5	37	c.198	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	C	13.36	2.215120	0.39102	.	.	ENSG00000110799	ENST00000261405	T	0.59364	0.27	5.22	4.27	0.50696	von Willebrand factor, type D domain (3);	0.000000	0.38381	N	0.001710	T	0.50480	0.1618	L	0.28192	0.835	0.28201	N	0.927336	B;B;P	0.50819	0.02;0.335;0.939	B;B;P	0.52267	0.055;0.211;0.694	T	0.42481	-0.9449	10	0.35671	T	0.21	.	8.3215	0.32132	0.1544:0.5749:0.2706:0.0	.	66;103;66	B4DNX0;Q8TCE8;P04275	.;.;VWF_HUMAN	H	66	ENSP00000261405:Q66H	ENSP00000261405:Q66H	Q	-	3	2	VWF	6100623	0.997000	0.39634	0.985000	0.45067	0.384000	0.30261	0.781000	0.26774	2.439000	0.82584	0.313000	0.20887	CAG	VWF	-	pfam_VWF_type-D,smart_VWF_type-D,pirsf_VWF		0.572	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	C	NM_000552		6230362	-1	no_errors	ENST00000261405	ensembl	human	known	70_37	missense	SNP	0.904	G
WAC	51322	genome.wustl.edu	37	10	28821934	28821934	+	5'Flank	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:28821934G>T	ENST00000354911.4	+	0	0				WAC-AS1_ENST00000528337.1_RNA|WAC_ENST00000428935.1_5'Flank|WAC-AS1_ENST00000527986.1_RNA|WAC_ENST00000347934.4_5'Flank|WAC_ENST00000375646.1_5'UTR|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000375664.4_5'UTR	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GGAGCCAGCCGAGGTTTGCCG	0.677																																																	0																																										SO:0001631	upstream_gene_variant	51322			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872		10.37:g.28821934G>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	RNA	SNP	-	NULL	ENST00000354911.4	37	NULL	CCDS7159.1	10																																																																																			WAC	-	-		0.677	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	HGNC	protein_coding	OTTHUMT00000047371.1	G	NM_100264		28821934	+1	no_errors	ENST00000528491	ensembl	human	known	70_37	rna	SNP	1.000	T
WAPAL	23063	genome.wustl.edu	37	10	88196033	88196033	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:88196033C>T	ENST00000298767.5	-	0	5312				WAPAL_ENST00000484070.1_5'UTR	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)						mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTTATGGCTTCAAGTTTTACA	0.299																																																	0																																										SO:0001624	3_prime_UTR_variant	23063			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.*1267G>A	10.37:g.88196033C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2B5|Q5VSK5|Q8IX10|Q92549	RNA	SNP	-	NULL	ENST00000298767.5	37	NULL	CCDS7375.1	10																																																																																			WAPAL	-	-		0.299	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WAPAL	HGNC	protein_coding	OTTHUMT00000049151.2	C	NM_015045		88196033	-1	no_errors	ENST00000484070	ensembl	human	known	70_37	rna	SNP	1.000	T
WBP11P1	441818	genome.wustl.edu	37	18	30092482	30092482	+	RNA	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:30092482C>T	ENST00000567636.1	+	0	857					NR_003558.1				WW domain binding protein 11 pseudogene 1																		TGCCCTAGATCTTCCCCCTCC	0.522																																																	0																																												441818			BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30092482C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000567636.1	37	NULL		18																																																																																			WBP11P1	-	-		0.522	WBP11P1-002	KNOWN	basic	processed_transcript	WBP11P1	HGNC	pseudogene	OTTHUMT00000435119.1	C			30092482	+1	no_errors	ENST00000567636	ensembl	human	known	70_37	rna	SNP	0.993	T
WBSCR17	64409	genome.wustl.edu	37	7	70853384	70853384	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:70853384G>A	ENST00000333538.5	+	3	1220	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	196	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.D195>?(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CAACAGCGACGAAGGTACAGG	0.582																																																	1	Complex(1)	lung(1)											107.0	77.0	87.0					7																	70853384		2203	4300	6503	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.586G>A	7.37:g.70853384G>A	ENSP00000329654:p.Glu196Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E196K	ENST00000333538.5	37	c.586	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658767	0.47467	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	T;T	0.59638	0.25;0.25	5.58	4.71	0.59529	Glycosyl transferase, family 2 (1);	0.061598	0.64402	D	0.000007	T	0.31420	0.0796	N	0.01464	-0.85	0.58432	D	0.999998	P	0.45957	0.869	B	0.42959	0.403	T	0.29243	-1.0018	10	0.19147	T	0.46	.	14.1869	0.65612	0.0718:0.0:0.9282:0.0	.	196	Q6IS24	GLTL3_HUMAN	K	196;174	ENSP00000329654:E196K;ENSP00000392019:E174K	ENSP00000329654:E196K	E	+	1	0	WBSCR17	70491320	1.000000	0.71417	0.977000	0.42913	0.027000	0.11550	6.588000	0.74076	1.506000	0.48736	-0.123000	0.14984	GAA	WBSCR17	-	pfam_Glyco_trans_2		0.582	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	G	NM_022479		70853384	+1	no_errors	ENST00000333538	ensembl	human	known	70_37	missense	SNP	0.998	A
WDFY4	57705	genome.wustl.edu	37	10	49917830	49917830	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:49917830C>G	ENST00000325239.5	+	1	80	c.53C>G	c.(52-54)tCc>tGc	p.S18C	WDFY4_ENST00000413659.2_Missense_Mutation_p.S18C|WDFY4_ENST00000360890.2_Missense_Mutation_p.S18C	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	18						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						GACCCAGGTTCCAAAAATGAA	0.498																																																	0													60.0	63.0	62.0					10																	49917830		692	1591	2283	SO:0001583	missense	57705			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.53C>G	10.37:g.49917830C>G	ENSP00000320563:p.Ser18Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S18C	ENST00000325239.5	37	c.53	CCDS44385.1	10	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729523	0.48833	.	.	ENSG00000128815	ENST00000360890;ENST00000454161;ENST00000426033;ENST00000325239;ENST00000413659	T;T;T	0.56941	0.86;0.43;1.44	5.73	0.639	0.17747	.	.	.	.	.	T	0.50446	0.1616	L	0.57536	1.79	0.09310	N	1	P;P	0.52463	0.953;0.867	B;P	0.47162	0.43;0.54	T	0.40001	-0.9586	9	0.46703	T	0.11	.	7.5952	0.28044	0.0:0.5538:0.0:0.4462	.	18;18	Q6ZS81;Q6ZS81-2	WDFY4_HUMAN;.	C	18;27;18;18;18	ENSP00000354141:S18C;ENSP00000320563:S18C;ENSP00000403789:S18C	ENSP00000320563:S18C	S	+	2	0	WDFY4	49587836	0.000000	0.05858	0.002000	0.10522	0.130000	0.20726	0.437000	0.21543	0.334000	0.23590	0.585000	0.79938	TCC	WDFY4	-	NULL		0.498	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		C	XM_033379		49917830	+1	no_errors	ENST00000325239	ensembl	human	known	70_37	missense	SNP	0.000	G
WDR11	55717	genome.wustl.edu	37	10	122633397	122633397	+	Silent	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:122633397G>C	ENST00000263461.6	+	11	1764	c.1518G>C	c.(1516-1518)ctG>ctC	p.L506L		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CCAGTGGTCTGCTACACAAAG	0.383																																																	0													176.0	142.0	154.0					10																	122633397		2203	4300	6503	SO:0001819	synonymous_variant	55717			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1518G>C	10.37:g.122633397G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.L506	ENST00000263461.6	37	c.1518	CCDS7619.1	10																																																																																			WDR11	-	NULL		0.383	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	WDR11	HGNC	protein_coding	OTTHUMT00000050707.2	G			122633397	+1	no_errors	ENST00000263461	ensembl	human	known	70_37	silent	SNP	0.961	C
WDR13	64743	genome.wustl.edu	37	X	48462652	48462652	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:48462652C>T	ENST00000218056.5	+	8	1659				WDR13_ENST00000376729.5_Intron	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13							cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						ACTCTCTCATCCTCTCAGGGT	0.567																																																	0													70.0	51.0	57.0					X																	48462652		2203	4300	6503	SO:0001627	intron_variant	64743			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.1155-8C>T	X.37:g.48462652C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	RNA	SNP	-	NULL	ENST00000218056.5	37	NULL	CCDS14302.1	X																																																																																			WDR13	-	-		0.567	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR13	HGNC	protein_coding	OTTHUMT00000060743.2	C			48462652	+1	no_errors	ENST00000492873	ensembl	human	known	70_37	rna	SNP	0.000	T
WDR31	114987	genome.wustl.edu	37	9	116093370	116093370	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:116093370C>T	ENST00000374193.4	-	4	389	c.143G>A	c.(142-144)aGa>aAa	p.R48K	WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_Intron|WDR31_ENST00000341761.4_Missense_Mutation_p.R47K	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	48										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AGTTTGAATTCTCTCTTCTAT	0.478																																																	0													66.0	70.0	69.0					9																	116093370		2203	4300	6503	SO:0001583	missense	114987			BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"""WD repeat domain containing"""	21421	protein-coding gene	gene with protein product	"""similar to spermatid WD-repeat protein"""						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.143G>A	9.37:g.116093370C>T	ENSP00000363308:p.Arg48Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5W0T9|Q96EG8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R48K	ENST00000374193.4	37	c.143	CCDS35110.1	9	.	.	.	.	.	.	.	.	.	.	C	8.212	0.800570	0.16397	.	.	ENSG00000148225	ENST00000374193;ENST00000341761	T;T	0.66460	-0.16;-0.21	5.63	0.0167	0.14109	.	0.481777	0.24490	N	0.038068	T	0.46268	0.1384	L	0.27053	0.805	0.54753	D	0.999981	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.13683	-1.0500	10	0.29301	T	0.29	-8.6208	7.3901	0.26905	0.0:0.5101:0.1142:0.3757	.	48;47	Q8NA23;Q8NA23-2	WDR31_HUMAN;.	K	48;47	ENSP00000363308:R48K;ENSP00000345027:R47K	ENSP00000345027:R47K	R	-	2	0	WDR31	115133191	0.005000	0.15991	0.181000	0.23098	0.981000	0.71138	-0.148000	0.10219	0.069000	0.16605	-0.258000	0.10820	AGA	WDR31	-	NULL		0.478	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR31	HGNC	protein_coding	OTTHUMT00000053734.2	C	NM_145241		116093370	-1	no_errors	ENST00000374193	ensembl	human	known	70_37	missense	SNP	0.014	T
WDR43	23160	genome.wustl.edu	37	2	29147999	29147999	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:29147999C>T	ENST00000407426.3	+	8	1122	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*	SNORD53_ENST00000579969.1_RNA|SNORD53_SNORD92_ENST00000577887.1_RNA|Y_RNA_ENST00000410292.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	356						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					CAGTTGGTTTCAGCCTACTAT	0.418																																																	0													104.0	97.0	99.0					2																	29147999		1916	4119	6035	SO:0001587	stop_gained	23160			D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1066C>T	2.37:g.29147999C>T	ENSP00000384302:p.Gln356*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15395|Q92577	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q356*	ENST00000407426.3	37	c.1066	CCDS46251.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.350170	0.97494	.	.	ENSG00000163811	ENST00000407426;ENST00000296126	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1996	19.5821	0.95471	0.0:1.0:0.0:0.0	.	.	.	.	X	356;175	.	ENSP00000296126:Q175X	Q	+	1	0	WDR43	29001503	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	5.181000	0.65054	2.708000	0.92522	0.650000	0.86243	CAG	WDR43	-	NULL		0.418	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR43	HGNC	protein_coding	OTTHUMT00000324865.1	C	XM_087089		29147999	+1	no_errors	ENST00000407426	ensembl	human	known	70_37	nonsense	SNP	1.000	T
WDR45	11152	genome.wustl.edu	37	X	48932470	48932470	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:48932470C>T	ENST00000376372.3	-	11	1256	c.1075G>A	c.(1075-1077)Gac>Aac	p.D359N	WDR45_ENST00000356463.3_Missense_Mutation_p.D360N|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000473974.1_3'UTR|WDR45_ENST00000485908.1_Missense_Mutation_p.D324N|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000396681.4_Missense_Mutation_p.D345N|WDR45_ENST00000465431.1_5'Flank|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000322995.8_Missense_Mutation_p.D370N|PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000376368.2_Missense_Mutation_p.D360N|PRAF2_ENST00000376386.3_5'Flank	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	359					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CCTTAAAAGTCATCATCATCA	0.537																																																	0													78.0	73.0	74.0					X																	48932470		2203	4300	6503	SO:0001583	missense	11152			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.1075G>A	X.37:g.48932470C>T	ENSP00000365551:p.Asp359Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.D370N	ENST00000376372.3	37	c.1108	CCDS35250.1	X	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189678	0.57909	.	.	ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000376368;ENST00000396681	D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	4.98	4.98	0.66077	.	0.107337	0.64402	D	0.000009	T	0.75398	0.3844	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.20550	0.045;0.046;0.036;0.003	B;B;B;B	0.26310	0.068;0.019;0.042;0.007	T	0.72257	-0.4346	10	0.49607	T	0.09	-18.8877	10.4057	0.44256	0.0:0.9037:0.0:0.0963	.	370;324;360;359	Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;WIPI4_HUMAN	N	359;370;360;324;360;345	ENSP00000365551:D359N;ENSP00000365543:D370N;ENSP00000348848:D360N;ENSP00000419897:D324N;ENSP00000365546:D360N;ENSP00000379913:D345N	ENSP00000365543:D370N	D	-	1	0	WDR45	48819414	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.250000	0.58772	2.392000	0.81423	0.600000	0.82982	GAC	WDR45	-	NULL		0.537	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR45	HGNC	protein_coding	OTTHUMT00000083418.2	C	NM_007075		48932470	-1	no_errors	ENST00000322995	ensembl	human	known	70_37	missense	SNP	1.000	T
CFAP44	55779	genome.wustl.edu	37	3	113063421	113063421	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:113063421G>C	ENST00000393845.2	-	23	3270	c.3204C>G	c.(3202-3204)agC>agG	p.S1068R		NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TGTCCAATTTGCTTGGTTTTC	0.428																																																	0													190.0	154.0	165.0					3																	113063421		692	1591	2283	SO:0001583	missense	55779																														ENST00000393845.2:c.3204C>G	3.37:g.113063421G>C	ENSP00000377428:p.Ser1068Arg	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1068R	ENST00000393845.2	37	c.3204	CCDS54624.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.64|11.64	1.699504|1.699504	0.30142|0.30142	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000465636|ENST00000393845	.|T	.|0.11385	.|2.78	4.79|4.79	0.985|0.985	0.19779|0.19779	.|.	.|1.926740	.|0.03035	.|U	.|0.152613	T|T	0.20455|0.20455	0.0492|0.0492	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.69142	.|0.962	T|T	0.07986|0.07986	-1.0744|-1.0744	5|10	.|0.87932	.|D	.|0	-5.9655|-5.9655	8.422|8.422	0.32707|0.32707	0.4084:0.0:0.5916:0.0|0.4084:0.0:0.5916:0.0	.|.	.|1068	.|Q96MT7-2	.|.	E|R	205|1068	.|ENSP00000377428:S1068R	.|ENSP00000377428:S1068R	Q|S	-|-	1|3	0|2	WDR52|WDR52	114546111|114546111	1.000000|1.000000	0.71417|0.71417	0.942000|0.942000	0.38095|0.38095	0.030000|0.030000	0.12068|0.12068	1.547000|1.547000	0.36190|0.36190	0.068000|0.068000	0.16574|0.16574	0.591000|0.591000	0.81541|0.81541	CAA|AGC	WDR52	-	NULL		0.428	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	HGNC	protein_coding		G			113063421	-1	no_errors	ENST00000393845	ensembl	human	known	70_37	missense	SNP	0.945	C
CFAP44	55779	genome.wustl.edu	37	3	113063537	113063537	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:113063537C>G	ENST00000393845.2	-	23	3154	c.3088G>C	c.(3088-3090)Gat>Cat	p.D1030H		NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ACAATAGTATCACTTTCCAGT	0.363																																																	0													151.0	118.0	128.0					3																	113063537		692	1591	2283	SO:0001583	missense	55779																														ENST00000393845.2:c.3088G>C	3.37:g.113063537C>G	ENSP00000377428:p.Asp1030His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D1030H	ENST00000393845.2	37	c.3088	CCDS54624.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.02|19.02	3.745210|3.745210	0.69418|0.69418	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000393845|ENST00000465636	T|.	0.12879|.	2.64|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.669254|.	0.14538|.	U|.	0.313462|.	T|.	0.72882|.	0.3516|.	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	B|.	0.33841|.	0.428|.	B|.	0.35899|.	0.213|.	T|.	0.71994|.	-0.4424|.	10|.	0.72032|.	D|.	0.01|.	-7.5376|-7.5376	16.1369|16.1369	0.81492|0.81492	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1030|.	Q96MT7-2|.	.|.	H|S	1030|166	ENSP00000377428:D1030H|.	ENSP00000377428:D1030H|.	D|X	-|-	1|2	0|2	WDR52|WDR52	114546227|114546227	0.959000|0.959000	0.32827|0.32827	0.480000|0.480000	0.27341|0.27341	0.967000|0.967000	0.64934|0.64934	3.580000|3.580000	0.53907|0.53907	2.660000|2.660000	0.90430|0.90430	0.591000|0.591000	0.81541|0.81541	GAT|TGA	WDR52	-	NULL		0.363	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	HGNC	protein_coding		C			113063537	-1	no_errors	ENST00000393845	ensembl	human	known	70_37	missense	SNP	0.934	G
WDR54	84058	genome.wustl.edu	37	2	74652559	74652559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:74652559G>T	ENST00000348227.4	+	9	902	c.814G>T	c.(814-816)Gag>Tag	p.E272*	WDR54_ENST00000409791.1_Nonsense_Mutation_p.E220*|WDR54_ENST00000461531.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	272										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						CTCTGCAGGTGAGGACACCTT	0.577																																																	0													72.0	74.0	73.0					2																	74652559		2203	4300	6503	SO:0001587	stop_gained	84058			AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.814G>T	2.37:g.74652559G>T	ENSP00000006526:p.Glu272*	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W5I3|Q53H85|Q86V45	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E272*	ENST00000348227.4	37	c.814	CCDS1940.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134583	0.77662	.	.	ENSG00000005448	ENST00000409791;ENST00000348227	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-19.074	15.4466	0.75235	0.0:0.0:1.0:0.0	.	.	.	.	X	220;272	.	ENSP00000006526:E272X	E	+	1	0	WDR54	74506067	1.000000	0.71417	0.995000	0.50966	0.886000	0.51366	6.420000	0.73349	2.642000	0.89623	0.561000	0.74099	GAG	WDR54	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.577	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR54	HGNC	protein_coding	OTTHUMT00000252213.1	G	NM_032118		74652559	+1	no_errors	ENST00000348227	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CFAP57	149465	genome.wustl.edu	37	1	43675438	43675438	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:43675438G>C	ENST00000372492.4	+	11	2104	c.1780G>C	c.(1780-1782)Gat>Cat	p.D594H	WDR65_ENST00000528956.1_Missense_Mutation_p.D594H	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		594										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATCGGCGTTTGATGTCACCTA	0.572																																																	0													132.0	108.0	116.0					1																	43675438		2203	4300	6503	SO:0001583	missense	149465																														ENST00000372492.4:c.1780G>C	1.37:g.43675438G>C	ENSP00000361570:p.Asp594His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D594H	ENST00000372492.4	37	c.1780		1	.	.	.	.	.	.	.	.	.	.	g	17.26	3.344630	0.61073	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.12255	2.7;2.7	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.117912	0.56097	D	0.000028	T	0.36744	0.0978	M	0.79258	2.445	0.48901	D	0.999728	P;D	0.56287	0.809;0.975	B;P	0.58172	0.39;0.834	T	0.01273	-1.1399	10	0.34782	T	0.22	.	20.265	0.98459	0.0:0.0:1.0:0.0	.	594;594	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	H	594	ENSP00000361570:D594H;ENSP00000435310:D594H	ENSP00000361570:D594H	D	+	1	0	WDR65	43448025	1.000000	0.71417	0.515000	0.27774	0.080000	0.17528	7.288000	0.78691	2.801000	0.96364	0.543000	0.68304	GAT	WDR65	-	superfamily_Quinonprotein_ADH-like		0.572	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1	G			43675438	+1	no_errors	ENST00000528956	ensembl	human	known	70_37	missense	SNP	0.998	C
WDR63	126820	genome.wustl.edu	37	1	85560159	85560159	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:85560159G>C	ENST00000294664.6	+	10	1274	c.1094G>C	c.(1093-1095)aGa>aCa	p.R365T	WDR63_ENST00000370596.1_Missense_Mutation_p.R326T|WDR63_ENST00000326813.8_Missense_Mutation_p.R326T	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	365										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTTGAAGACAGAGTTCACTTT	0.423																																																	0													242.0	238.0	239.0					1																	85560159		2203	4300	6503	SO:0001583	missense	126820				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1094G>C	1.37:g.85560159G>C	ENSP00000294664:p.Arg365Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.R365T	ENST00000294664.6	37	c.1094	CCDS702.1	1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957263	0.53400	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.70164	-0.46;-0.46;-0.46	5.69	5.69	0.88448	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.134298	0.64402	D	0.000008	T	0.80454	0.4626	M	0.90483	3.12	0.39296	D	0.964825	D;D	0.76494	0.979;0.999	P;D	0.69142	0.844;0.962	T	0.80834	-0.1205	10	0.33940	T	0.23	-17.5503	14.9657	0.71193	0.0701:0.0:0.9299:0.0	.	326;365	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	T	326;326;365	ENSP00000359628:R326T;ENSP00000317463:R326T;ENSP00000294664:R365T	ENSP00000294664:R365T	R	+	2	0	WDR63	85332747	0.999000	0.42202	0.562000	0.28370	0.171000	0.22731	5.182000	0.65059	2.688000	0.91661	0.650000	0.86243	AGA	WDR63	-	superfamily_WD40_repeat_dom		0.423	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR63	HGNC	protein_coding	OTTHUMT00000027565.2	G	NM_145172		85560159	+1	no_errors	ENST00000294664	ensembl	human	known	70_37	missense	SNP	0.603	C
WDR66	144406	genome.wustl.edu	37	12	122361672	122361672	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:122361672G>A	ENST00000288912.4	+	3	1377	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	WDR66_ENST00000397454.2_Missense_Mutation_p.E175K	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	175							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TAGTTCCCCTGAAAGGCAGCC	0.468																																					Esophageal Squamous(85;849 1794 49757 52143)												0													103.0	97.0	99.0					12																	122361672		1853	4086	5939	SO:0001583	missense	144406			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.523G>A	12.37:g.122361672G>A	ENSP00000288912:p.Glu175Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E175K	ENST00000288912.4	37	c.523	CCDS41853.1	12	.	.	.	.	.	.	.	.	.	.	G	13.71	2.316992	0.40996	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.16597	2.33;2.33	3.78	-0.576	0.11731	.	1.473130	0.04551	N	0.389956	T	0.12263	0.0298	L	0.27053	0.805	0.09310	N	1	B	0.23377	0.084	B	0.24155	0.051	T	0.33650	-0.9860	10	0.44086	T	0.13	.	4.4932	0.11824	0.2219:0.3562:0.422:0.0	.	175	Q8TBY9	WDR66_HUMAN	K	175	ENSP00000288912:E175K;ENSP00000380595:E175K	ENSP00000288912:E175K	E	+	1	0	WDR66	120846055	0.000000	0.05858	0.000000	0.03702	0.360000	0.29518	0.264000	0.18497	-0.243000	0.09653	0.460000	0.39030	GAA	WDR66	-	NULL		0.468	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	G	NM_144668		122361672	+1	no_errors	ENST00000288912	ensembl	human	known	70_37	missense	SNP	0.000	A
WDR70	55100	genome.wustl.edu	37	5	37701239	37701239	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:37701239C>G	ENST00000265107.4	+	12	1428	c.1272C>G	c.(1270-1272)ttC>ttG	p.F424L	WDR70_ENST00000510699.1_3'UTR|RNU6-484P_ENST00000384016.1_RNA	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	424							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACCATGTTCCCAATGTAAG	0.338																																																	0													77.0	80.0	79.0					5																	37701239		2203	4300	6503	SO:0001583	missense	55100			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1272C>G	5.37:g.37701239C>G	ENSP00000265107:p.Phe424Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H053	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F424L	ENST00000265107.4	37	c.1272	CCDS34147.1	5	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041622	0.55003	.	.	ENSG00000082068	ENST00000265107	T	0.01272	5.07	5.37	1.41	0.22369	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.062108	0.64402	D	0.000004	T	0.01421	0.0046	L	0.50333	1.59	0.80722	D	1	P	0.39282	0.666	B	0.30179	0.112	T	0.65882	-0.6060	10	0.41790	T	0.15	-6.6375	8.9619	0.35851	0.0:0.443:0.0:0.557	.	424	Q9NW82	WDR70_HUMAN	L	424	ENSP00000265107:F424L	ENSP00000265107:F424L	F	+	3	2	WDR70	37736996	0.650000	0.27331	1.000000	0.80357	0.998000	0.95712	-0.272000	0.08560	0.210000	0.20664	0.650000	0.86243	TTC	WDR70	-	superfamily_WD40_repeat_dom		0.338	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR70	HGNC	protein_coding	OTTHUMT00000368294.1	C	NM_018034		37701239	+1	no_errors	ENST00000265107	ensembl	human	known	70_37	missense	SNP	0.996	G
WDR75	84128	genome.wustl.edu	37	2	190324117	190324117	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:190324117G>C	ENST00000314761.4	+	8	805	c.745G>C	c.(745-747)Gat>Cat	p.D249H		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	249						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TTGGCACCATGATATGGTTAT	0.303																																																	0													150.0	150.0	150.0					2																	190324117		2203	4300	6503	SO:0001583	missense	84128			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.745G>C	2.37:g.190324117G>C	ENSP00000314193:p.Asp249His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D249H	ENST00000314761.4	37	c.745	CCDS2298.1	2	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486579	0.63962	.	.	ENSG00000115368	ENST00000314761	T	0.05513	3.43	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.152442	0.64402	D	0.000014	T	0.07728	0.0194	L	0.31065	0.9	0.58432	D	0.999996	P;P	0.45569	0.861;0.74	B;B	0.42555	0.391;0.313	T	0.46624	-0.9178	10	0.19590	T	0.45	-28.1401	19.6767	0.95936	0.0:0.0:1.0:0.0	.	249;249	A8K330;Q8IWA0	.;WDR75_HUMAN	H	249	ENSP00000314193:D249H	ENSP00000314193:D249H	D	+	1	0	WDR75	190032362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.790000	0.62453	2.634000	0.89283	0.655000	0.94253	GAT	WDR75	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.303	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR75	HGNC	protein_coding	OTTHUMT00000255913.1	G	NM_032168		190324117	+1	no_errors	ENST00000314761	ensembl	human	known	70_37	missense	SNP	1.000	C
DPH7	92715	genome.wustl.edu	37	9	140451184	140451184	+	Intron	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:140451184C>T	ENST00000277540.2	-	9	1107				DPH7_ENST00000479650.1_Intron	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												GAGGTAGCGTCACAGGGCAGG	0.602																																																	0																																										SO:0001627	intron_variant	92715			AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"""WD repeat domain containing"""	25199	protein-coding gene	gene with protein product		613210	"""chromosome 9 open reading frame 112"", ""WD repeat domain 85"""	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.950-1084G>A	9.37:g.140451184C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AB7	RNA	SNP	-	NULL	ENST00000277540.2	37	NULL	CCDS7047.1	9																																																																																			WDR85	-	-		0.602	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR85	HGNC	protein_coding	OTTHUMT00000055350.1	C	NM_138778		140451184	-1	no_errors	ENST00000497237	ensembl	human	known	70_37	rna	SNP	0.001	T
WDR87	83889	genome.wustl.edu	37	19	38382241	38382241	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:38382241G>C	ENST00000303868.5	-	5	3452	c.3228C>G	c.(3226-3228)atC>atG	p.I1076M	WDR87_ENST00000447313.2_Missense_Mutation_p.I1115M	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1076										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						TGCTGGGCTTGATGGCCACTT	0.488																																																	0													56.0	48.0	51.0					19																	38382241		692	1591	2283	SO:0001583	missense	83889			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.3228C>G	19.37:g.38382241G>C	ENSP00000368025:p.Ile1076Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I1115M	ENST00000303868.5	37	c.3345	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	G	2.070	-0.413326	0.04799	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.10763	2.84;2.84	3.79	0.13	0.14746	.	1.572000	0.04355	N	0.356400	T	0.06600	0.0169	N	0.12182	0.205	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.38520	-0.9657	10	0.32370	T	0.25	1.0216	5.951	0.19246	0.11:0.3715:0.5185:0.0	.	1076;1115	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	M	1115;1076	ENSP00000405012:I1115M;ENSP00000368025:I1076M	ENSP00000368025:I1076M	I	-	3	3	WDR87	43074081	0.033000	0.19621	0.012000	0.15200	0.002000	0.02628	0.065000	0.14466	0.027000	0.15297	-0.480000	0.04831	ATC	WDR87	-	superfamily_ARM-type_fold		0.488	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	G	XM_940478		38382241	-1	no_errors	ENST00000447313	ensembl	human	known	70_37	missense	SNP	0.018	C
WDR87	83889	genome.wustl.edu	37	19	38382299	38382299	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:38382299G>C	ENST00000303868.5	-	5	3394	c.3170C>G	c.(3169-3171)tCt>tGt	p.S1057C	WDR87_ENST00000447313.2_Missense_Mutation_p.S1096C	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1057										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						TTTAAGTTCAGAAGGCATTGA	0.458																																																	0													110.0	98.0	102.0					19																	38382299		692	1591	2283	SO:0001583	missense	83889			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.3170C>G	19.37:g.38382299G>C	ENSP00000368025:p.Ser1057Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1096C	ENST00000303868.5	37	c.3287	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	G	8.081	0.772486	0.16051	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.10860	2.83;2.84	2.95	0.69	0.18039	.	0.935409	0.08831	N	0.887257	T	0.19005	0.0456	M	0.62723	1.935	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.55545	0.778;0.778	T	0.16305	-1.0407	10	0.59425	D	0.04	2.3236	3.4947	0.07650	0.1391:0.0:0.6129:0.2481	.	1057;1096	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	C	1096;1057	ENSP00000405012:S1096C;ENSP00000368025:S1057C	ENSP00000368025:S1057C	S	-	2	0	WDR87	43074139	0.002000	0.14202	0.000000	0.03702	0.023000	0.10783	1.115000	0.31209	0.260000	0.21731	0.448000	0.29417	TCT	WDR87	-	superfamily_ARM-type_fold		0.458	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	G	XM_940478		38382299	-1	no_errors	ENST00000447313	ensembl	human	known	70_37	missense	SNP	0.000	C
WDTC1	23038	genome.wustl.edu	37	1	27622829	27622829	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:27622829G>C	ENST00000319394.3	+	10	1421	c.886G>C	c.(886-888)Gac>Cac	p.D296H	WDTC1_ENST00000361771.3_Missense_Mutation_p.D296H	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	296					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTATTTGTTTGACTTGACTTA	0.498																																																	0													231.0	225.0	227.0					1																	27622829		2203	4300	6503	SO:0001583	missense	23038			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.886G>C	1.37:g.27622829G>C	ENSP00000317971:p.Asp296His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D296H	ENST00000319394.3	37	c.886		1	.	.	.	.	.	.	.	.	.	.	G	31	5.086711	0.94100	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	D;D	0.86562	-2.14;-2.14	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.089397	0.85682	D	0.000000	D	0.93733	0.7997	M	0.80422	2.495	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.68483	0.909;0.958	D	0.93677	0.6995	10	0.66056	D	0.02	.	19.2865	0.94077	0.0:0.0:1.0:0.0	.	296;296	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	H	296	ENSP00000317971:D296H;ENSP00000355317:D296H	ENSP00000317971:D296H	D	+	1	0	WDTC1	27495416	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.230000	0.95299	2.802000	0.96397	0.655000	0.94253	GAC	WDTC1	-	superfamily_WD40_repeat_dom		0.498	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding		G	NM_015023		27622829	+1	no_errors	ENST00000319394	ensembl	human	known	70_37	missense	SNP	1.000	C
WFIKKN2	124857	genome.wustl.edu	37	17	48917537	48917537	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:48917537G>A	ENST00000311378.4	+	2	1416	c.888G>A	c.(886-888)ctG>ctA	p.L296L	WFIKKN2_ENST00000426127.1_Silent_p.L203L|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	296	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L296L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTGGGGTCCTGAGGGCTGATT	0.637																																																	1	Substitution - coding silent(1)	lung(1)											67.0	56.0	60.0					17																	48917537		2203	4300	6503	SO:0001819	synonymous_variant	124857			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.888G>A	17.37:g.48917537G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXZ9	Silent	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m	p.L296	ENST00000311378.4	37	c.888	CCDS11575.1	17																																																																																			WFIKKN2	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.637	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN2	HGNC	protein_coding	OTTHUMT00000368358.1	G	NM_175575		48917537	+1	no_errors	ENST00000311378	ensembl	human	known	70_37	silent	SNP	0.156	A
WHSC1L1	54904	genome.wustl.edu	37	8	38172265	38172265	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:38172265C>T	ENST00000317025.8	-	12	2659	c.2142G>A	c.(2140-2142)ctG>ctA	p.L714L	WHSC1L1_ENST00000527502.1_Silent_p.L714L|WHSC1L1_ENST00000433384.2_Silent_p.L714L|WHSC1L1_ENST00000525081.1_5'Flank	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	714					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CACAAGGAATCAGAGAGTCAC	0.453			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													70.0	67.0	68.0					8																	38172265		1900	4128	6028	SO:0001819	synonymous_variant	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2142G>A	8.37:g.38172265C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.L714	ENST00000317025.8	37	c.2142	CCDS43729.1	8																																																																																			WHSC1L1	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.453	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	C	NM_023034		38172265	-1	no_errors	ENST00000317025	ensembl	human	known	70_37	silent	SNP	0.931	T
WIZ	58525	genome.wustl.edu	37	19	15547730	15547730	+	Missense_Mutation	SNP	C	C	T	rs376481490		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:15547730C>T	ENST00000389282.4	-	4	2696	c.2483G>A	c.(2482-2484)cGa>cAa	p.R828Q	WIZ_ENST00000263381.7_Missense_Mutation_p.R139Q			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	828					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CCCAGGCTCTCGGCCCAGGGG	0.672																																																	0								C	GLN/ARG	1,3881		0,1,1940	34.0	40.0	38.0		416	-0.4	0.2	19		38	1,8259		0,1,4129	no	missense	WIZ	NM_021241.2	43	0,2,6069	TT,TC,CC		0.0121,0.0258,0.0165	benign	139/795	15547730	2,12140	1941	4130	6071	SO:0001583	missense	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.2483G>A	19.37:g.15547730C>T	ENSP00000373933:p.Arg828Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R828Q	ENST00000389282.4	37	c.2483		19	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367525	0.42003	2.58E-4	1.21E-4	ENSG00000011451	ENST00000389282;ENST00000263381	T	0.02498	4.27	4.26	-0.384	0.12474	.	1.128590	0.06617	N	0.756734	T	0.01627	0.0052	.	.	.	0.18873	N	0.999988	P	0.35192	0.489	B	0.17979	0.02	T	0.47812	-0.9088	9	0.29301	T	0.29	0.2731	4.6761	0.12712	0.0:0.5645:0.159:0.2765	.	139	O95785-2	.	Q	828;139	ENSP00000373933:R828Q	ENSP00000263381:R139Q	R	-	2	0	WIZ	15408730	.	.	0.206000	0.23566	0.968000	0.65278	.	.	-0.115000	0.11915	0.449000	0.29647	CGA	WIZ	-	NULL		0.672	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		C	NM_021241		15547730	-1	no_errors	ENST00000389282	ensembl	human	known	70_37	missense	SNP	0.190	T
WNK1	65125	genome.wustl.edu	37	12	1005527	1005527	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:1005527C>G	ENST00000315939.6	+	24	6517	c.5874C>G	c.(5872-5874)ttC>ttG	p.F1958L	WNK1_ENST00000530271.2_Missense_Mutation_p.F2456L|WNK1_ENST00000340908.4_Missense_Mutation_p.F1551L|WNK1_ENST00000537687.1_Missense_Mutation_p.F2218L|WNK1_ENST00000535572.1_Missense_Mutation_p.F1710L	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1958					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGGGTCGTTTCTCTGTATCAA	0.468																																					Colon(19;451 567 6672 12618 28860)												0													128.0	127.0	127.0					12																	1005527		2203	4300	6503	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5874C>G	12.37:g.1005527C>G	ENSP00000313059:p.Phe1958Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F2456L	ENST00000315939.6	37	c.7368	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321652	0.60634	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.75367	-0.91;-0.87;-0.85;-0.93;0.32	5.92	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.81936	0.4928	M	0.63843	1.955	0.46678	D	0.999158	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.80764	0.994;0.994;0.985	T	0.82178	-0.0586	10	0.66056	D	0.02	-12.8274	8.9645	0.35867	0.0:0.7941:0.0:0.2059	.	1711;1710;1958	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	L	1710;1958;2218;1131;2456;1551	ENSP00000441972:F1710L;ENSP00000313059:F1958L;ENSP00000444465:F2218L;ENSP00000433548:F2456L;ENSP00000341292:F1551L	ENSP00000252477:F1131L	F	+	3	2	WNK1	875788	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.525000	0.35953	2.804000	0.96469	0.655000	0.94253	TTC	WNK1	-	NULL		0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	C	NM_018979		1005527	+1	no_errors	ENST00000530271	ensembl	human	known	70_37	missense	SNP	1.000	G
WNK3	65267	genome.wustl.edu	37	X	54228426	54228426	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:54228426C>T	ENST00000375159.2	-	22	5070	c.5071G>A	c.(5071-5073)Gaa>Aaa	p.E1691K	WNK3_ENST00000354646.2_Missense_Mutation_p.E1691K|WNK3_ENST00000375169.3_Missense_Mutation_p.E1634K			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1691					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CAACTTACTTCAGATACTTTA	0.333																																																	0													153.0	127.0	136.0					X																	54228426		2202	4300	6502	SO:0001583	missense	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.5071G>A	X.37:g.54228426C>T	ENSP00000364301:p.Glu1691Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E1691K	ENST00000375159.2	37	c.5071	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425622	0.62733	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.70986	-0.52;-0.53;-0.53	5.01	5.01	0.66863	.	0.000000	0.56097	D	0.000025	T	0.80644	0.4662	M	0.72894	2.215	0.45914	D	0.998751	D;D	0.71674	0.998;0.996	D;P	0.80764	0.994;0.874	T	0.77335	-0.2626	10	0.07482	T	0.82	-14.6843	16.1428	0.81539	0.0:1.0:0.0:0.0	.	1634;1691	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	K	1634;1691;1691	ENSP00000364312:E1634K;ENSP00000346667:E1691K;ENSP00000364301:E1691K	ENSP00000346667:E1691K	E	-	1	0	WNK3	54245151	1.000000	0.71417	0.985000	0.45067	0.783000	0.44284	6.249000	0.72427	2.061000	0.61500	0.600000	0.82982	GAA	WNK3	-	NULL		0.333	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	C	NM_020922		54228426	-1	no_errors	ENST00000354646	ensembl	human	known	70_37	missense	SNP	1.000	T
WNT5A	7474	genome.wustl.edu	37	3	55504101	55504101	+	3'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:55504101G>C	ENST00000474267.1	-	0	1683				WNT5A_ENST00000493406.1_5'UTR|WNT5A_ENST00000264634.4_3'UTR|WNT5A_ENST00000497027.1_3'UTR			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A						activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GAGCGGGGCTGAGTGCTGGGT	0.478																																																	0													46.0	49.0	48.0					3																	55504101		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7474			L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.*19C>G	3.37:g.55504101G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4A4|Q6P278	RNA	SNP	-	NULL	ENST00000474267.1	37	NULL	CCDS46850.1	3	.	.	.	.	.	.	.	.	.	.	G	7.882	0.730383	0.15507	.	.	ENSG00000114251	ENST00000442038	.	.	.	6.04	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.24078	N	0.995958	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.7631	0.46277	0.1583:0.0:0.8416:0.0	.	.	.	.	X	120	.	ENSP00000395272:S120X	S	-	2	0	WNT5A	55479141	0.003000	0.15002	0.539000	0.28077	0.499000	0.33736	0.525000	0.22956	1.571000	0.49722	0.561000	0.74099	TCA	WNT5A	-	-		0.478	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5A	HGNC	protein_coding	OTTHUMT00000350793.3	G	NM_003392		55504101	-1	no_errors	ENST00000493406	ensembl	human	known	70_37	rna	SNP	0.139	C
WNT8A	7478	genome.wustl.edu	37	5	137420241	137420241	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:137420241G>A	ENST00000398754.1	+	3	162	c.157G>A	c.(157-159)Gag>Aag	p.E53K	WNT8A_ENST00000506684.1_Missense_Mutation_p.E71K	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	53					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGCATCGAGGAGTGCAAGTT	0.547																																																	0													79.0	83.0	82.0					5																	137420241		2081	4245	6326	SO:0001583	missense	7478			AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.157G>A	5.37:g.137420241G>A	ENSP00000381739:p.Glu53Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96S51	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8	p.E53K	ENST00000398754.1	37	c.157	CCDS43368.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.133152	0.94517	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	T;T;T	0.80214	-1.35;-1.35;-1.35	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.93933	0.8058	H	0.97962	4.115	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.991;0.978	D	0.95872	0.8892	10	0.87932	D	0	.	18.7819	0.91937	0.0:0.0:1.0:0.0	.	71;71;53	D6RF47;D6RF94;Q9H1J5	.;.;WNT8A_HUMAN	K	71;71;53	ENSP00000426653:E71K;ENSP00000424809:E71K;ENSP00000381739:E53K	ENSP00000354726:E53K	E	+	1	0	WNT8A	137448140	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.263000	0.95617	2.746000	0.94184	0.655000	0.94253	GAG	WNT8A	-	pfam_Wnt,smart_Wnt		0.547	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT8A	HGNC	protein_coding	OTTHUMT00000280395.1	G	NM_058244		137420241	+1	no_errors	ENST00000361560	ensembl	human	known	70_37	missense	SNP	1.000	A
WRNIP1	56897	genome.wustl.edu	37	6	2770431	2770431	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:2770431C>G	ENST00000380773.4	+	3	1301	c.1092C>G	c.(1090-1092)gtC>gtG	p.V364V	WRNIP1_ENST00000380769.4_Silent_p.V144V|WRNIP1_ENST00000380771.4_Silent_p.V339V|WRNIP1_ENST00000380764.1_5'UTR	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CCTTCCAGGTCAACGCTGCTC	0.493																																																	0													147.0	123.0	131.0					6																	2770431		2203	4300	6503	SO:0001819	synonymous_variant	56897			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1092C>G	6.37:g.2770431C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.V364	ENST00000380773.4	37	c.1092	CCDS4475.1	6																																																																																			WRNIP1	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase		0.493	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	HGNC	protein_coding	OTTHUMT00000039641.1	C	NM_130395		2770431	+1	no_errors	ENST00000380773	ensembl	human	known	70_37	silent	SNP	1.000	G
WSCD2	9671	genome.wustl.edu	37	12	108600142	108600142	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:108600142G>C	ENST00000332082.4	+	4	1277	c.459G>C	c.(457-459)aaG>aaC	p.K153N	WSCD2_ENST00000549903.1_Missense_Mutation_p.K153N|WSCD2_ENST00000547525.1_Missense_Mutation_p.K153N|WSCD2_ENST00000261400.3_Missense_Mutation_p.K153N			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	153	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						ACTACAAAAAGATGACCATCT	0.517																																																	0													79.0	80.0	79.0					12																	108600142		1918	4117	6035	SO:0001583	missense	9671				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.459G>C	12.37:g.108600142G>C	ENSP00000331933:p.Lys153Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.K153N	ENST00000332082.4	37	c.459	CCDS41828.1	12	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469142	0.84533	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.29	5.29	0.74685	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.049184	0.85682	D	0.000000	T	0.60805	0.2297	L	0.41710	1.295	0.58432	D	0.999999	D	0.56746	0.977	P	0.57057	0.812	T	0.62863	-0.6764	10	0.59425	D	0.04	-39.6926	17.5137	0.87767	0.0:0.0:1.0:0.0	.	153	Q2TBF2	WSCD2_HUMAN	N	153	ENSP00000448047:K153N;ENSP00000261400:K153N;ENSP00000331933:K153N;ENSP00000447272:K153N	ENSP00000261400:K153N	K	+	3	2	WSCD2	107124272	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.922000	0.70036	2.480000	0.83734	0.650000	0.86243	AAG	WSCD2	-	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd		0.517	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WSCD2	HGNC	protein_coding	OTTHUMT00000405554.1	G	NM_014653		108600142	+1	no_errors	ENST00000261400	ensembl	human	known	70_37	missense	SNP	1.000	C
WWC1	23286	genome.wustl.edu	37	5	167851052	167851052	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:167851052G>C	ENST00000265293.4	+	11	2291	c.1789G>C	c.(1789-1791)Gag>Cag	p.E597Q	WWC1_ENST00000521089.1_Missense_Mutation_p.E597Q	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	597					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACCAGGAACGGAGGGCAAGCA	0.572																																																	0													39.0	44.0	42.0					5																	167851052		2203	4300	6503	SO:0001583	missense	23286			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1789G>C	5.37:g.167851052G>C	ENSP00000265293:p.Glu597Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.E597Q	ENST00000265293.4	37	c.1789	CCDS4366.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.39|11.39	1.625490|1.625490	0.28889|0.28889	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895;ENST00000524228	T;T|.	0.25250|.	1.81;1.81|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.772684|.	0.12352|.	N|.	0.476455|.	T|T	0.64080|0.64080	0.2566|0.2566	M|M	0.61703|0.61703	1.905|1.905	0.31192|0.31192	N|N	0.700864|0.700864	B;B;B;B|.	0.28400|.	0.0;0.019;0.21;0.0|.	B;B;B;B|.	0.31101|.	0.003;0.012;0.124;0.001|.	T|T	0.66822|0.66822	-0.5826|-0.5826	10|5	0.35671|.	T|.	0.21|.	.|.	17.8735|17.8735	0.88818|0.88818	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	597;503;503;597|.	Q8IX03-2;F5H498;B3KX05;Q8IX03|.	.;.;.;KIBRA_HUMAN|.	Q|A	597|558;373	ENSP00000265293:E597Q;ENSP00000427772:E597Q|.	ENSP00000265293:E597Q|.	E|G	+|+	1|2	0|0	WWC1|WWC1	167783630|167783630	0.651000|0.651000	0.27340|0.27340	0.301000|0.301000	0.25044|0.25044	0.073000|0.073000	0.16967|0.16967	3.663000|3.663000	0.54518|0.54518	2.217000|2.217000	0.71921|0.71921	0.655000|0.655000	0.94253|0.94253	GAG|GGA	WWC1	-	NULL		0.572	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	G	NM_015238		167851052	+1	no_errors	ENST00000265293	ensembl	human	known	70_37	missense	SNP	0.557	C
WWC2	80014	genome.wustl.edu	37	4	184182427	184182427	+	Missense_Mutation	SNP	T	T	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:184182427T>C	ENST00000403733.3	+	11	1850	c.1651T>C	c.(1651-1653)Tcc>Ccc	p.S551P	WWC2_ENST00000513834.1_Missense_Mutation_p.S551P|WWC2_ENST00000378925.3_Missense_Mutation_p.S453P|WWC2_ENST00000448232.2_Missense_Mutation_p.S551P|WWC2_ENST00000504005.1_Missense_Mutation_p.S233P	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	551					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CTCGAGGTCCTCCCTTTCCTC	0.582																																																	0													103.0	77.0	85.0					4																	184182427		2203	4300	6503	SO:0001583	missense	80014			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1651T>C	4.37:g.184182427T>C	ENSP00000384222:p.Ser551Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.S551P	ENST00000403733.3	37	c.1651	CCDS34109.2	4	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222972	0.79464	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.24908	2.59;1.83;2.59;2.42;2.46	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000003	T	0.54727	0.1876	M	0.86502	2.82	0.54753	D	0.999987	D;D	0.89917	0.999;1.0	D;D	0.87578	0.941;0.998	T	0.57883	-0.7734	10	0.29301	T	0.29	-17.1127	14.8308	0.70146	0.0:0.0:0.0:1.0	.	551;551	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	P	551;453;551;551;233	ENSP00000384222:S551P;ENSP00000368205:S453P;ENSP00000425054:S551P;ENSP00000398577:S551P;ENSP00000427569:S233P	ENSP00000368205:S453P	S	+	1	0	WWC2	184419421	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	7.493000	0.81493	2.095000	0.63458	0.477000	0.44152	TCC	WWC2	-	NULL		0.582	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC2	HGNC	protein_coding	OTTHUMT00000319608.1	T	NM_024949		184182427	+1	no_errors	ENST00000448232	ensembl	human	known	70_37	missense	SNP	1.000	C
TSIX	9383	genome.wustl.edu	37	X	73047228	73047228	+	lincRNA	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:73047228C>G	ENST00000604411.1	+	0	35189				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		CTGAAATACTCAAAGGTGAGT	0.388																																																	0													35.0	31.0	32.0					X																	73047228		876	1991	2867			7503					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047228C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-		0.388	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	C	NR_003255		73047228	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.255	G
XPA	7507	genome.wustl.edu	37	9	100447309	100447309	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:100447309G>A	ENST00000375128.4	-	5	633	c.569C>T	c.(568-570)tCt>tTt	p.S190F		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	190					DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				AACTTCAAGAGACCTCTTCAC	0.328			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"""xeroderma pigmentosum, complementation group A"""		E	0													114.0	107.0	109.0					9																	100447309		2203	4298	6501	SO:0001583	missense	7507	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.569C>T	9.37:g.100447309G>A	ENSP00000364270:p.Ser190Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T1U9|Q6LCW7|Q6LD02	Missense_Mutation	SNP	pfam_XPA_C,pfam_Znf_XPA_CS,superfamily_DNA-bd_dom_put,tigrfam_XPA	p.S190F	ENST00000375128.4	37	c.569	CCDS6729.1	9	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880825	0.72294	.	.	ENSG00000136936	ENST00000375128	T	0.61859	0.07	4.98	4.98	0.66077	DNA binding domain, putative (1);	0.517984	0.23220	N	0.050574	T	0.63604	0.2525	L	0.50333	1.59	0.47374	D	0.999401	P	0.43169	0.8	P	0.48654	0.585	T	0.67325	-0.5699	10	0.87932	D	0	.	17.9069	0.88921	0.0:0.0:1.0:0.0	.	190	P23025	XPA_HUMAN	F	190	ENSP00000364270:S190F	ENSP00000364270:S190F	S	-	2	0	XPA	99487130	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.514000	0.73746	2.700000	0.92200	0.467000	0.42956	TCT	XPA	-	superfamily_DNA-bd_dom_put,tigrfam_XPA		0.328	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPA	HGNC	protein_coding	OTTHUMT00000053332.1	G	NM_000380		100447309	-1	no_errors	ENST00000375128	ensembl	human	known	70_37	missense	SNP	1.000	A
XPA	7507	genome.wustl.edu	37	9	100449429	100449429	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:100449429C>T	ENST00000375128.4	-	4	568	c.504G>A	c.(502-504)aaG>aaA	p.K168K		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	168					DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				GATGTGGATTCTTCTTCACAA	0.308			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"""xeroderma pigmentosum, complementation group A"""		E	0													122.0	129.0	127.0					9																	100449429		2203	4298	6501	SO:0001819	synonymous_variant	7507	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.504G>A	9.37:g.100449429C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T1U9|Q6LCW7|Q6LD02	Silent	SNP	pfam_XPA_C,pfam_Znf_XPA_CS,superfamily_DNA-bd_dom_put,tigrfam_XPA	p.K168	ENST00000375128.4	37	c.504	CCDS6729.1	9																																																																																			XPA	-	pfam_XPA_C,superfamily_DNA-bd_dom_put,tigrfam_XPA		0.308	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPA	HGNC	protein_coding	OTTHUMT00000053332.1	C	NM_000380		100449429	-1	no_errors	ENST00000375128	ensembl	human	known	70_37	silent	SNP	1.000	T
XPNPEP1	7511	genome.wustl.edu	37	10	111624695	111624695	+	3'UTR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:111624695G>C	ENST00000502935.1	-	0	2367				XPNPEP1_ENST00000369680.4_3'UTR|XPNPEP1_ENST00000369683.1_3'UTR|XPNPEP1_ENST00000322238.8_3'UTR					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TTCAACTTTGGAGGGACCCTC	0.423																																																	0																																										SO:0001624	3_prime_UTR_variant	7511				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.*247C>G	10.37:g.111624695G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000502935.1	37	NULL	CCDS7560.2	10																																																																																			XPNPEP1	-	-		0.423	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	HGNC	protein_coding	OTTHUMT00000050264.2	G			111624695	-1	no_errors	ENST00000502895	ensembl	human	known	70_37	rna	SNP	0.000	C
XPNPEP1	7511	genome.wustl.edu	37	10	111637621	111637621	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:111637621G>A	ENST00000502935.1	-	14	1365	c.1246C>T	c.(1246-1248)Cag>Tag	p.Q416*	XPNPEP1_ENST00000369680.4_Nonsense_Mutation_p.Q373*|XPNPEP1_ENST00000369683.1_Nonsense_Mutation_p.Q302*|XPNPEP1_ENST00000322238.8_Nonsense_Mutation_p.Q416*					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AAGTCTGCCTGTTGCCTGTAA	0.502																																																	0													114.0	104.0	107.0					10																	111637621		2203	4300	6503	SO:0001587	stop_gained	7511				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1246C>T	10.37:g.111637621G>A	ENSP00000421566:p.Gln416*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.Q416*	ENST00000502935.1	37	c.1246	CCDS7560.2	10	.	.	.	.	.	.	.	.	.	.	G	33	5.208961	0.95069	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-15.2509	17.5727	0.87939	0.0:0.0:1.0:0.0	.	.	.	.	X	416;302;416;373	.	ENSP00000324011:Q416X	Q	-	1	0	XPNPEP1	111627611	1.000000	0.71417	0.998000	0.56505	0.211000	0.24417	9.220000	0.95180	2.575000	0.86900	0.460000	0.39030	CAG	XPNPEP1	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain		0.502	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	HGNC	protein_coding	OTTHUMT00000050264.2	G			111637621	-1	no_errors	ENST00000502935	ensembl	human	known	70_37	nonsense	SNP	1.000	A
XPNPEP2	7512	genome.wustl.edu	37	X	128885728	128885728	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:128885728C>G	ENST00000371106.3	+	9	939	c.747C>G	c.(745-747)ttC>ttG	p.F249L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	249						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CAGGGCTCTTCAACCTTCGAG	0.433																																																	0													197.0	201.0	200.0					X																	128885728		2203	4300	6503	SO:0001583	missense	7512			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.747C>G	X.37:g.128885728C>G	ENSP00000360147:p.Phe249Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV16|O75994	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.F249L	ENST00000371106.3	37	c.747	CCDS14613.1	X	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131284	0.56828	.	.	ENSG00000122121	ENST00000371106	T	0.72394	-0.65	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	L	0.39898	1.24	0.44946	D	0.997964	D	0.64830	0.994	P	0.58970	0.849	T	0.69847	-0.5034	10	0.21540	T	0.41	-26.912	15.0967	0.72242	0.0:1.0:0.0:0.0	.	249	O43895	XPP2_HUMAN	L	249	ENSP00000360147:F249L	ENSP00000360147:F249L	F	+	3	2	XPNPEP2	128713409	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.625000	0.37029	2.152000	0.67230	0.436000	0.28706	TTC	XPNPEP2	-	NULL		0.433	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP2	HGNC	protein_coding	OTTHUMT00000058210.1	C	NM_003399		128885728	+1	no_errors	ENST00000371106	ensembl	human	known	70_37	missense	SNP	1.000	G
XPO5	57510	genome.wustl.edu	37	6	43492253	43492253	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:43492253G>A	ENST00000265351.7	-	31	3643	c.3433C>T	c.(3433-3435)Cgc>Tgc	p.R1145C	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	1145					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TCCTTTCGGCGCTTGTCAGCC	0.483																																																	0													108.0	111.0	110.0					6																	43492253		1920	4117	6037	SO:0001583	missense	57510			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.3433C>T	6.37:g.43492253G>A	ENSP00000265351:p.Arg1145Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N	p.R1145C	ENST00000265351.7	37	c.3433	CCDS47430.1	6	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480743	0.84747	.	.	ENSG00000124571	ENST00000265351;ENST00000372258;ENST00000439465	T	0.67523	-0.27	6.06	5.18	0.71444	Armadillo-type fold (1);	0.115168	0.64402	D	0.000016	T	0.65842	0.2730	L	0.57536	1.79	0.54753	D	0.999986	D	0.89917	1.0	P	0.54706	0.759	T	0.70575	-0.4834	10	0.56958	D	0.05	-12.6503	14.3208	0.66484	0.0:0.0:0.7296:0.2704	.	1145	Q9HAV4	XPO5_HUMAN	C	1145;685;773	ENSP00000265351:R1145C	ENSP00000265351:R1145C	R	-	1	0	XPO5	43600231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.509000	0.67012	1.550000	0.49438	0.655000	0.94253	CGC	XPO5	-	superfamily_ARM-type_fold		0.483	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	HGNC	protein_coding	OTTHUMT00000040657.2	G	NM_020750		43492253	-1	no_errors	ENST00000265351	ensembl	human	known	70_37	missense	SNP	1.000	A
XPR1	9213	genome.wustl.edu	37	1	180843068	180843068	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:180843068G>A	ENST00000367590.4	+	13	1996	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K	XPR1_ENST00000367589.3_Missense_Mutation_p.E535K	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	600	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGCCCCACTTGAGGTTTTCCG	0.363																																																	0													95.0	83.0	87.0					1																	180843068		2203	4300	6503	SO:0001583	missense	9213			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1798G>A	1.37:g.180843068G>A	ENSP00000356562:p.Glu600Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	pfam_EXS_C,pfam_SPX_N	p.E600K	ENST00000367590.4	37	c.1798	CCDS1340.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.701665	0.96812	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	D;D	0.84442	-1.85;-1.85	5.43	5.43	0.79202	EXS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95207	0.8446	H	0.96301	3.8	0.52501	D	0.999957	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.96505	0.9374	10	0.87932	D	0	-10.2424	18.8267	0.92122	0.0:0.0:1.0:0.0	.	535;600	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	K	600;535	ENSP00000356562:E600K;ENSP00000356561:E535K	ENSP00000356561:E535K	E	+	1	0	XPR1	179109691	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.715000	0.98748	2.558000	0.86282	0.650000	0.86243	GAG	XPR1	-	pfam_EXS_C		0.363	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPR1	HGNC	protein_coding	OTTHUMT00000084996.2	G	NM_004736		180843068	+1	no_errors	ENST00000367590	ensembl	human	known	70_37	missense	SNP	1.000	A
XRCC4	7518	genome.wustl.edu	37	5	82606692	82606692	+	Intron	SNP	A	A	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:82606692A>G	ENST00000511817.1	+	8	973				XRCC4_ENST00000396027.4_Intron|XRCC4_ENST00000282268.3_Intron|XRCC4_ENST00000338635.6_Intron			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4						cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		gctgcctttgaataaggagga	0.473								Non-homologous end-joining																																									0																																										SO:0001627	intron_variant	7518			AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"""X-ray repair, complementing defective, repair in Chinese hamster"", ""DNA repair protein XRCC4"""	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.894-42252A>G	5.37:g.82606692A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3X4|Q9BS72|Q9UP94	RNA	SNP	-	NULL	ENST00000511817.1	37	NULL	CCDS4059.1	5																																																																																			XRCC4	-	-		0.473	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	XRCC4	HGNC	protein_coding	OTTHUMT00000369624.1	A	NM_022550		82606692	+1	no_errors	ENST00000542685	ensembl	human	known	70_37	rna	SNP	0.000	G
XRCC5	7520	genome.wustl.edu	37	2	217002874	217002874	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:217002874G>A	ENST00000392133.3	+	14	1775	c.1314G>A	c.(1312-1314)ttG>ttA	p.L438L	XRCC5_ENST00000471649.1_3'UTR|XRCC5_ENST00000392132.2_Silent_p.L438L			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	438	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TTTCATCCTTGAAAAACAGTA	0.403								Non-homologous end-joining																																									0													103.0	99.0	101.0					2																	217002874		2203	4300	6503	SO:0001819	synonymous_variant	7520			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1314G>A	2.37:g.217002874G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Silent	SNP	pfam_Ku_N,pfam_Ku_PK_bind,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,superfamily_SPOC-like,superfamily_Ku_PK_bind,smart_VWF_A,smart_DNA_helicase_ATP-dep_Ku	p.L438	ENST00000392133.3	37	c.1314	CCDS2402.1	2																																																																																			XRCC5	-	pfam_DNA_helicase_ATP-dep_Ku,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku		0.403	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC5	HGNC	protein_coding	OTTHUMT00000256675.3	G	NM_021141		217002874	+1	no_errors	ENST00000392132	ensembl	human	known	70_37	silent	SNP	1.000	A
YEATS2	55689	genome.wustl.edu	37	3	183476669	183476669	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:183476669C>T	ENST00000305135.5	+	13	1767	c.1572C>T	c.(1570-1572)atC>atT	p.I524I		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	524					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CAAACAAGATCTCCACGGCTT	0.383																																																	0													139.0	126.0	130.0					3																	183476669		1834	4082	5916	SO:0001819	synonymous_variant	55689			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1572C>T	3.37:g.183476669C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	pfam_YEATS,pfscan_YEATS	p.I524	ENST00000305135.5	37	c.1572	CCDS43175.1	3																																																																																			YEATS2	-	NULL		0.383	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2	C	NM_018023		183476669	+1	no_errors	ENST00000305135	ensembl	human	known	70_37	silent	SNP	0.973	T
YIPF1	54432	genome.wustl.edu	37	1	54354631	54354631	+	5'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:54354631C>G	ENST00000072644.1	-	0	316				YIPF1_ENST00000539954.1_Missense_Mutation_p.G19R|YIPF1_ENST00000371399.1_Intron|YIPF1_ENST00000469457.1_5'UTR	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1							integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						AGTCTTCTCCCAATTATGAGG	0.368																																																	0													73.0	77.0	75.0					1																	54354631		2203	4300	6503	SO:0001623	5_prime_UTR_variant	54432			BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"""Yip1 domain family"""	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.-21G>C	1.37:g.54354631C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCM7|D3DQ40|Q9NWJ1	Missense_Mutation	SNP	pfam_Yip1,superfamily_Ribonuclease/ribotoxin	p.G19R	ENST00000072644.1	37	c.55	CCDS584.1	1	.	.	.	.	.	.	.	.	.	.	C	9.071	0.996839	0.19043	.	.	ENSG00000058799	ENST00000539954	.	.	.	4.29	2.33	0.28932	.	.	.	.	.	T	0.41858	0.1177	.	.	.	0.20489	N	0.999897	.	.	.	.	.	.	T	0.29518	-1.0009	5	0.48119	T	0.1	.	9.3142	0.37924	0.391:0.609:0.0:0.0	.	.	.	.	R	19	.	ENSP00000439926:G19R	G	-	1	0	YIPF1	54127219	0.034000	0.19679	0.457000	0.27056	0.462000	0.32619	1.167000	0.31847	0.514000	0.28300	0.561000	0.74099	GGG	YIPF1	-	NULL		0.368	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF1	HGNC	protein_coding	OTTHUMT00000022103.5	C	NM_018982		54354631	-1	no_errors	ENST00000539954	ensembl	human	known	70_37	missense	SNP	0.082	G
YIPF3	25844	genome.wustl.edu	37	6	43483734	43483734	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:43483734C>T	ENST00000372422.2	-	2	363	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	YIPF3_ENST00000506469.1_Missense_Mutation_p.E67K|POLR1C_ENST00000304004.3_5'Flank|POLR1C_ENST00000372389.3_5'Flank|POLR1C_ENST00000372344.2_5'Flank	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	61					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GCGTCTACTTCTTCCTCGCGC	0.577																																																	0													89.0	82.0	85.0					6																	43483734		2203	4300	6503	SO:0001583	missense	25844			AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.181G>A	6.37:g.43483734C>T	ENSP00000361499:p.Glu61Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Missense_Mutation	SNP	NULL	p.E61K	ENST00000372422.2	37	c.181	CCDS4899.1	6	.	.	.	.	.	.	.	.	.	.	C	37	5.988126	0.97179	.	.	ENSG00000137207	ENST00000372422;ENST00000504851;ENST00000506469;ENST00000503972;ENST00000511831	T;T;T	0.50813	0.73;0.74;0.74	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	L	0.57536	1.79	0.80722	D	1	D;D;D	0.67145	0.994;0.996;0.994	D;D;P	0.76071	0.915;0.987;0.877	T	0.58470	-0.7631	10	0.51188	T	0.08	-11.7269	18.009	0.89217	0.0:1.0:0.0:0.0	.	61;67;61	D6RED8;E7EQR8;Q9GZM5	.;.;YIPF3_HUMAN	K	61;61;67;61;26	ENSP00000361499:E61K;ENSP00000425494:E67K;ENSP00000421461:E61K	ENSP00000259737:E61K	E	-	1	0	YIPF3	43591712	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.359000	0.66074	2.687000	0.91594	0.460000	0.39030	GAA	YIPF3	-	NULL		0.577	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF3	HGNC	protein_coding	OTTHUMT00000040639.2	C	NM_015388		43483734	-1	no_errors	ENST00000372422	ensembl	human	known	70_37	missense	SNP	1.000	T
NDUFA13	51079	genome.wustl.edu	37	19	19638154	19638154	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:19638154G>T	ENST00000507754.4	+	3	722	c.238G>T	c.(238-240)Gac>Tac	p.D80Y	YJEFN3_ENST00000436027.5_5'Flank|YJEFN3_ENST00000608404.1_Missense_Mutation_p.D80Y|NDUFA13_ENST00000503283.1_Missense_Mutation_p.D80Y|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.D80Y|YJEFN3_ENST00000514277.4_5'Flank|NDUFA13_ENST00000252576.5_Missense_Mutation_p.D163Y|NDUFA13_ENST00000428459.2_Missense_Mutation_p.D80Y|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000512771.3_Missense_Mutation_p.D80Y			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	80					apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GGCAGAAACCGACCGGAGGTA	0.627																																																	0													60.0	55.0	57.0					19																	19638154		2203	4300	6503	SO:0001583	missense	374887			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.238G>T	19.37:g.19638154G>T	ENSP00000423673:p.Asp80Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	pfam_GRIM-19,pfam_YjeF_N_dom,superfamily_YjeF_N_dom	p.D80Y	ENST00000507754.4	37	c.238	CCDS12404.2	19	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470988	0.43942	.	.	ENSG00000186010;ENSG00000186010;ENSG00000250067;ENSG00000258674	ENST00000507754;ENST00000252576;ENST00000553705;ENST00000555938	D;D;D	0.87256	-2.23;-2.23;-2.23	4.03	4.03	0.46877	.	0.117869	0.53938	D	0.000042	D	0.94631	0.8269	H	0.95004	3.61	0.25753	N	0.985031	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.88106	0.2822	10	0.87932	D	0	.	11.5678	0.50815	0.0:0.0:1.0:0.0	.	80;80;80	E7ENQ6;B4DF76;Q9P0J0	.;.;NDUAD_HUMAN	Y	80;163;80;80	ENSP00000423673:D80Y;ENSP00000252576:D163Y;ENSP00000452549:D80Y	ENSP00000252576:D163Y	D	+	1	0	YJEFN3;NDUFA13;CTC-260F20.3	19499154	1.000000	0.71417	0.996000	0.52242	0.047000	0.14425	6.315000	0.72853	2.110000	0.64415	0.585000	0.79938	GAC	YJEFN3	-	pfam_GRIM-19		0.627	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	YJEFN3	HGNC	protein_coding	OTTHUMT00000367916.6	G	NM_015965		19638154	+1	no_errors	ENST00000553705	ensembl	human	known	70_37	missense	SNP	0.995	T
YLPM1	56252	genome.wustl.edu	37	14	75277119	75277119	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:75277119G>A	ENST00000552421.1	+	8	3230	c.3106G>A	c.(3106-3108)Gat>Aat	p.D1036N	YLPM1_ENST00000325680.7_Missense_Mutation_p.D1742N|YLPM1_ENST00000238571.3_Missense_Mutation_p.D1547N			P49750	YLPM1_HUMAN	YLP motif containing 1	1547	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCCCGAGATGATAGGTATGC	0.373																																																	0													106.0	99.0	101.0					14																	75277119		1849	4083	5932	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3106G>A	14.37:g.75277119G>A	ENSP00000447921:p.Asp1036Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.D1742N	ENST00000552421.1	37	c.5224		14	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476856	0.84640	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	T;T;T	0.07567	3.18;3.18;3.18	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000004	T	0.17959	0.0431	N	0.17082	0.46	0.49051	D	0.99974	D;P	0.71674	0.998;0.865	D;P	0.78314	0.991;0.519	T	0.05666	-1.0871	10	0.48119	T	0.1	-11.9842	20.1124	0.97915	0.0:0.0:1.0:0.0	.	1547;1742	P49750-3;P49750-4	.;.	N	1036;1742;1547;1455;151	ENSP00000447921:D1036N;ENSP00000324463:D1742N;ENSP00000238571:D1547N	ENSP00000238571:D1547N	D	+	1	0	YLPM1	74346872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.055000	0.71103	2.749000	0.94314	0.655000	0.94253	GAT	YLPM1	-	NULL		0.373	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	Uniprot_genename	protein_coding	OTTHUMT00000404450.1	G	NM_019589		75277119	+1	no_errors	ENST00000325680	ensembl	human	known	70_37	missense	SNP	1.000	A
YTHDC2	64848	genome.wustl.edu	37	5	112868672	112868672	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:112868672G>A	ENST00000161863.4	+	5	985	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	YTHDC2_ENST00000515883.1_Missense_Mutation_p.E258K	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	258	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CGCTGTGGCTGAAAGAGTTGC	0.413																																																	0													93.0	99.0	97.0					5																	112868672		2202	4300	6502	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.772G>A	5.37:g.112868672G>A	ENSP00000161863:p.Glu258Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E258K	ENST00000161863.4	37	c.772	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559893	0.86335	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.06371	3.31;3.31	5.64	5.64	0.86602	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.183173	0.50627	D	0.000114	T	0.11239	0.0274	L	0.43152	1.355	0.80722	D	1	P	0.51449	0.945	P	0.46585	0.521	T	0.00722	-1.1594	10	0.59425	D	0.04	.	17.878	0.88830	0.0:0.0:1.0:0.0	.	258	Q9H6S0	YTDC2_HUMAN	K	258;258;168	ENSP00000161863:E258K;ENSP00000423101:E258K	ENSP00000161863:E258K	E	+	1	0	YTHDC2	112896571	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.765000	0.98953	2.660000	0.90430	0.467000	0.42956	GAA	YTHDC2	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.413	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	G	NM_022828		112868672	+1	no_errors	ENST00000161863	ensembl	human	known	70_37	missense	SNP	1.000	A
YTHDC2	64848	genome.wustl.edu	37	5	112868725	112868725	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:112868725G>C	ENST00000161863.4	+	5	1038	c.825G>C	c.(823-825)caG>caC	p.Q275H	YTHDC2_ENST00000515883.1_Missense_Mutation_p.Q275H	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	275	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTGGTTATCAGATCCGATTAG	0.378																																																	0													76.0	79.0	78.0					5																	112868725		2202	4300	6502	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.825G>C	5.37:g.112868725G>C	ENSP00000161863:p.Gln275His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q275H	ENST00000161863.4	37	c.825	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341174	0.41498	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.07800	3.16;3.16	5.64	4.77	0.60923	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.059557	0.64402	D	0.000001	T	0.14184	0.0343	M	0.68593	2.085	0.51012	D	0.999902	B	0.24258	0.1	B	0.32624	0.149	T	0.01781	-1.1275	10	0.54805	T	0.06	.	12.909	0.58169	0.0751:0.0:0.9249:0.0	.	275	Q9H6S0	YTDC2_HUMAN	H	275;275;185	ENSP00000161863:Q275H;ENSP00000423101:Q275H	ENSP00000161863:Q275H	Q	+	3	2	YTHDC2	112896624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.164000	0.50770	1.397000	0.46682	0.467000	0.42956	CAG	YTHDC2	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.378	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	G	NM_022828		112868725	+1	no_errors	ENST00000161863	ensembl	human	known	70_37	missense	SNP	1.000	C
YTHDF2	51441	genome.wustl.edu	37	1	29064809	29064809	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:29064809G>A	ENST00000373812.3	+	3	453	c.91G>A	c.(91-93)Gat>Aat	p.D31N	YTHDF2_ENST00000542507.1_Missense_Mutation_p.D31N|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_De_novo_Start_OutOfFrame	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	31	Localization to mRNA processing bodies (P-bodies).				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TGGATTAAACGATGATGATTT	0.358																																																	0													111.0	109.0	109.0					1																	29064809		1848	4087	5935	SO:0001583	missense	51441			AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.91G>A	1.37:g.29064809G>A	ENSP00000362918:p.Asp31Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.D31N	ENST00000373812.3	37	c.91	CCDS41296.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760241	0.89932	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000396232	T;T	0.54279	0.58;0.58	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	L	0.59436	1.845	0.80722	D	1	D;D	0.61080	0.989;0.969	P;P	0.48454	0.578;0.578	T	0.60591	-0.7233	10	0.48119	T	0.1	-15.0013	18.4704	0.90773	0.0:0.0:1.0:0.0	.	31;31	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	N	31	ENSP00000444660:D31N;ENSP00000362918:D31N	ENSP00000362918:D31N	D	+	1	0	YTHDF2	28937396	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	9.869000	0.99810	2.655000	0.90218	0.561000	0.74099	GAT	YTHDF2	-	NULL		0.358	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDF2	HGNC	protein_coding	OTTHUMT00000010335.1	G	NM_016258		29064809	+1	no_errors	ENST00000373812	ensembl	human	known	70_37	missense	SNP	1.000	A
YTHDF3	253943	genome.wustl.edu	37	8	64123780	64123780	+	3'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:64123780C>T	ENST00000517371.1	+	0	1899				YTHDF3_ENST00000539294.1_3'UTR|YTHDF3_ENST00000542911.2_3'UTR|YTHDF3_ENST00000521674.1_3'UTR			Q7Z739	YTHD3_HUMAN	YTH domain family, member 3								N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			ATACTGTATTCAAGTGAAAAA	0.308																																																	0																																										SO:0001624	3_prime_UTR_variant	253943			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000517371.1:c.*1516C>T	8.37:g.64123780C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXL4|Q63Z37|Q659A3	RNA	SNP	-	NULL	ENST00000517371.1	37	NULL		8																																																																																			YTHDF3	-	-		0.308	YTHDF3-010	PUTATIVE	basic	protein_coding	YTHDF3	HGNC	protein_coding	OTTHUMT00000378466.4	C	NM_152758		64123780	+1	no_errors	ENST00000517371	ensembl	human	known	70_37	rna	SNP	0.005	T
YWHAH	7533	genome.wustl.edu	37	22	32352575	32352575	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:32352575C>T	ENST00000248975.5	+	2	810	c.537C>T	c.(535-537)ttC>ttT	p.F179F	YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta	179					apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						CCCTCAACTTCTCCGTGTTCT	0.527																																					Ovarian(98;460 2060 9263 44007)												0													72.0	61.0	65.0					22																	32352575		2203	4300	6503	SO:0001819	synonymous_variant	7533			X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"""14-3-3 eta"""	113508	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"""	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.537C>T	22.37:g.32352575C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.F179	ENST00000248975.5	37	c.537	CCDS13901.1	22																																																																																			YWHAH	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3		0.527	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAH	HGNC	protein_coding	OTTHUMT00000075721.2	C	NM_003405		32352575	+1	no_errors	ENST00000248975	ensembl	human	known	70_37	silent	SNP	1.000	T
ZAN	7455	genome.wustl.edu	37	7	100331801	100331801	+	RNA	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:100331801C>G	ENST00000348028.3	+	0	175				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATGGTTCCTCCAGTCTGGAC	0.592																																																	0													34.0	34.0	34.0					7																	100331801		1796	3796	5592			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100331801C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.P4A	ENST00000348028.3	37	c.10		7	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833129	0.50951	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.15952	2.42;2.42;2.38	3.74	0.601	0.17529	.	0.417365	0.17821	N	0.160842	T	0.10252	0.0251	L	0.29908	0.895	0.48452	D	0.999659	B;B	0.23891	0.093;0.056	B;B	0.27170	0.077;0.035	T	0.21177	-1.0253	10	0.87932	D	0	.	1.2955	0.02068	0.2247:0.4151:0.2198:0.1404	.	4;4	F5H0T8;Q9Y493	.;ZAN_HUMAN	A	4	ENSP00000445943:P4A;ENSP00000445091:P4A;ENSP00000444427:P4A	ENSP00000423579:P4A	P	+	1	0	ZAN	100169737	0.052000	0.20516	0.665000	0.29768	0.849000	0.48306	0.827000	0.27421	0.113000	0.18004	0.561000	0.74099	CCA	ZAN	-	NULL		0.592	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	C	NM_003386		100331801	+1	no_errors	ENST00000546292	ensembl	human	known	70_37	missense	SNP	0.696	G
ZAR1	326340	genome.wustl.edu	37	4	48494963	48494963	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:48494963C>T	ENST00000327939.4	+	3	1105	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	355					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						AGGTTTACTTCAAACAGTTTT	0.398																																																	0													138.0	132.0	134.0					4																	48494963		2203	4300	6503	SO:0001819	synonymous_variant	326340			AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 6"""	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.1065C>T	4.37:g.48494963C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	superfamily_Znf_FYVE_PHD	p.F355	ENST00000327939.4	37	c.1065	CCDS3483.1	4																																																																																			ZAR1	-	superfamily_Znf_FYVE_PHD		0.398	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAR1	HGNC	protein_coding	OTTHUMT00000219927.3	C			48494963	+1	no_errors	ENST00000327939	ensembl	human	known	70_37	silent	SNP	1.000	T
ZBED1	9189	genome.wustl.edu	37	X	2408336	2408336	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:2408336G>A	ENST00000381223.4	-	2	628	c.425C>T	c.(424-426)tCc>tTc	p.S142F	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.S142F|ZBED1_ENST00000381218.3_Missense_Mutation_p.S142F|ZBED1_ENST00000515319.1_5'Flank	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	142					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTCCACGATGGAGGCTGGGTA	0.662																																																	0													70.0	72.0	71.0					X																	2408336		2203	4296	6499	SO:0001583	missense	9189			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.425C>T	X.37:g.2408336G>A	ENSP00000370621:p.Ser142Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96BY4	Missense_Mutation	SNP	pfam_HATC,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.S142F	ENST00000381223.4	37	c.425	CCDS14118.1	X	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958813	0.34565	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218;ENST00000461691	.	.	.	2.62	2.62	0.31277	.	0.186435	0.33553	U	0.004782	T	0.64886	0.2639	.	.	.	0.09310	N	0.999998	D	0.65815	0.995	D	0.72982	0.979	T	0.58284	-0.7663	8	0.72032	D	0.01	-41.4938	13.0583	0.58992	0.0:0.0:1.0:0.0	.	142	O96006	ZBED1_HUMAN	F	142	.	ENSP00000370616:S142F	S	-	2	0	ZBED1	2418336	1.000000	0.71417	0.995000	0.50966	0.505000	0.33919	2.100000	0.41777	1.086000	0.41228	0.425000	0.28330	TCC	ZBED1	-	NULL		0.662	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED1	HGNC	protein_coding	OTTHUMT00000144310.3	G	NM_004729		2408336	-1	no_errors	ENST00000381218	ensembl	human	known	70_37	missense	SNP	0.953	A
ZC3H11A	9877	genome.wustl.edu	37	1	203767786	203767786	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:203767786C>G	ENST00000332127.4	+	2	293				ZC3H11A_ENST00000367214.1_Intron|ZC3H11A_ENST00000466470.1_Intron|ZC3H11A_ENST00000367212.3_Intron|ZC3H11A_ENST00000545588.1_5'Flank|ZBED6_ENST00000550078.1_Missense_Mutation_p.S379C			O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A						poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAAACAGATCTGAAAGTCCT	0.453																																																	0																																										SO:0001627	intron_variant	100381270				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000332127.4:c.-565+2162C>G	1.37:g.203767786C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.S379C	ENST00000332127.4	37	c.1136	CCDS30978.1	1	.	.	.	.	.	.	.	.	.	.	C	9.982	1.228502	0.22542	.	.	ENSG00000257315	ENST00000550078	.	.	.	4.46	3.54	0.40534	.	.	.	.	.	T	0.52370	0.1730	L	0.36672	1.1	0.34502	D	0.706184	.	.	.	.	.	.	T	0.66160	-0.5993	6	0.54805	T	0.06	.	12.8436	0.57817	0.0:0.8342:0.1657:0.0	.	.	.	.	C	379	.	ENSP00000447879:S379C	S	+	2	0	ZBED6	202034409	0.086000	0.21541	0.996000	0.52242	0.904000	0.53231	-0.073000	0.11468	1.461000	0.47929	0.655000	0.94253	TCT	ZBED6	-	NULL		0.453	ZC3H11A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED6	HGNC	protein_coding	OTTHUMT00000087691.1	C	NM_014827		203767786	+1	no_errors	ENST00000550078	ensembl	human	known	70_37	missense	SNP	1.000	G
ZC3H11A	9877	genome.wustl.edu	37	1	203768069	203768069	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:203768069G>C	ENST00000332127.4	+	2	293				ZC3H11A_ENST00000367214.1_Intron|ZC3H11A_ENST00000466470.1_Intron|ZC3H11A_ENST00000367212.3_Intron|ZC3H11A_ENST00000545588.1_5'Flank|ZBED6_ENST00000550078.1_Missense_Mutation_p.E473D			O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A						poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TAACTTTAGAGAATGTTCAAA	0.383																																																	0																																										SO:0001627	intron_variant	100381270				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000332127.4:c.-565+2445G>C	1.37:g.203768069G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.E473D	ENST00000332127.4	37	c.1419	CCDS30978.1	1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331141	0.60853	.	.	ENSG00000257315	ENST00000550078	.	.	.	5.45	4.54	0.55810	.	.	.	.	.	T	0.44414	0.1292	L	0.36672	1.1	0.32166	N	0.582241	.	.	.	.	.	.	T	0.51818	-0.8657	6	0.23891	T	0.37	.	12.8069	0.57618	0.0808:0.0:0.9192:0.0	.	.	.	.	D	473	.	ENSP00000447879:E473D	E	+	3	2	ZBED6	202034692	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.021000	0.41020	1.636000	0.50526	0.655000	0.94253	GAG	ZBED6	-	superfamily_RNaseH-like_dom		0.383	ZC3H11A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED6	HGNC	protein_coding	OTTHUMT00000087691.1	G	NM_014827		203768069	+1	no_errors	ENST00000550078	ensembl	human	known	70_37	missense	SNP	1.000	C
ZBTB20	26137	genome.wustl.edu	37	3	114057933	114057933	+	Silent	SNP	G	G	A	rs372379560		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:114057933G>A	ENST00000474710.1	-	5	2323	c.2145C>T	c.(2143-2145)taC>taT	p.Y715Y	ZBTB20_ENST00000462705.1_Silent_p.Y642Y|ZBTB20_ENST00000464560.1_Silent_p.Y642Y|ZBTB20_ENST00000481632.1_Silent_p.Y642Y|ZBTB20_ENST00000393785.2_Silent_p.Y642Y|ZBTB20_ENST00000357258.3_Silent_p.Y642Y|ZBTB20_ENST00000471418.1_Silent_p.Y642Y	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	715						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.Y642Y(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGGAGCAGACGTAAGTGGTCC	0.602																																					NSCLC(69;748 1344 9802 11203 30933)												1	Substitution - coding silent(1)	prostate(1)						G	,,,,,,	0,4406		0,0,2203	68.0	66.0	67.0		2145,1926,1926,1926,1926,1926,1926	4.1	1.0	3		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZBTB20	NM_001164342.1,NM_001164343.1,NM_001164344.1,NM_001164345.1,NM_001164346.1,NM_001164347.1,NM_015642.4	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	715/742,642/669,642/669,642/669,642/669,642/669,642/669	114057933	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26137			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2145C>T	3.37:g.114057933G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Y715	ENST00000474710.1	37	c.2145	CCDS54626.1	3																																																																																			ZBTB20	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.602	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	HGNC	protein_coding	OTTHUMT00000354951.1	G	NM_015642		114057933	-1	no_errors	ENST00000474710	ensembl	human	known	70_37	silent	SNP	1.000	A
ZBTB20	26137	genome.wustl.edu	37	3	114069347	114069347	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:114069347G>C	ENST00000474710.1	-	4	1756	c.1578C>G	c.(1576-1578)ttC>ttG	p.F526L	ZBTB20_ENST00000462705.1_Missense_Mutation_p.F453L|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.F453L|ZBTB20_ENST00000481632.1_Missense_Mutation_p.F453L|ZBTB20_ENST00000393785.2_Missense_Mutation_p.F453L|ZBTB20_ENST00000357258.3_Missense_Mutation_p.F453L|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.F453L|ZBTB20-AS1_ENST00000496219.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	526						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGGCAGGCTGAAGAGGAAAG	0.642																																					NSCLC(69;748 1344 9802 11203 30933)												0													46.0	51.0	49.0					3																	114069347		2203	4300	6503	SO:0001583	missense	26137			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1578C>G	3.37:g.114069347G>C	ENSP00000419153:p.Phe526Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.F526L	ENST00000474710.1	37	c.1578	CCDS54626.1	3	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917461	0.73098	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.09255	3.02;3.02;3.02;3.02;3.0;3.02;3.02	5.86	5.86	0.93980	.	0.115890	0.64402	D	0.000014	T	0.08537	0.0212	N	0.19112	0.55	0.80722	D	1	P	0.38767	0.646	B	0.28553	0.091	T	0.14868	-1.0457	10	0.59425	D	0.04	.	20.1789	0.98193	0.0:0.0:1.0:0.0	.	526	Q9HC78	ZBT20_HUMAN	L	453;453;453;453;526;453;453	ENSP00000420324:F453L;ENSP00000377375:F453L;ENSP00000418092:F453L;ENSP00000419902:F453L;ENSP00000419153:F526L;ENSP00000349803:F453L;ENSP00000417307:F453L	ENSP00000349803:F453L	F	-	3	2	ZBTB20	115552037	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.465000	0.97660	2.763000	0.94921	0.557000	0.71058	TTC	ZBTB20	-	NULL		0.642	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	HGNC	protein_coding	OTTHUMT00000354951.1	G	NM_015642		114069347	-1	no_errors	ENST00000474710	ensembl	human	known	70_37	missense	SNP	1.000	C
ZBTB37	84614	genome.wustl.edu	37	1	173839612	173839612	+	Silent	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:173839612C>G	ENST00000367701.5	+	2	440	c.249C>G	c.(247-249)ctC>ctG	p.L83L	ZBTB37_ENST00000427304.1_Silent_p.L83L|ZBTB37_ENST00000367702.1_Silent_p.L83L|ZBTB37_ENST00000367704.1_Silent_p.L83L|ZBTB37_ENST00000432989.1_Silent_p.L83L|GAS5_ENST00000364084.1_RNA			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	83	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						TTGAACAGCTCCTTTCTTTCT	0.458																																																	0													84.0	85.0	85.0					1																	173839612		2203	4300	6503	SO:0001819	synonymous_variant	84614			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.249C>G	1.37:g.173839612C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TC80|Q96M87|Q9BQ88	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L83	ENST00000367701.5	37	c.249	CCDS44278.1	1																																																																																			ZBTB37	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.458	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB37	HGNC	protein_coding	OTTHUMT00000090729.2	C	NM_032522		173839612	+1	no_errors	ENST00000367701	ensembl	human	known	70_37	silent	SNP	1.000	G
ZBTB4	57659	genome.wustl.edu	37	17	7365840	7365840	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:7365840C>G	ENST00000311403.4	-	4	2800	c.2461G>C	c.(2461-2463)Gag>Cag	p.E821Q	ZBTB4_ENST00000380599.4_Missense_Mutation_p.E821Q	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	821					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		ACTTGCATCTCTTGGGGGGCT	0.642																																																	0													32.0	34.0	34.0					17																	7365840		2203	4300	6503	SO:0001583	missense	57659			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2461G>C	17.37:g.7365840C>G	ENSP00000307858:p.Glu821Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E821Q	ENST00000311403.4	37	c.2461	CCDS11107.1	17	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808280	0.70797	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.04502	3.61;3.61	5.73	5.73	0.89815	.	0.181968	0.38720	N	0.001588	T	0.08582	0.0213	N	0.24115	0.695	0.29921	N	0.822775	D	0.64830	0.994	P	0.52554	0.702	T	0.01202	-1.1420	10	0.72032	D	0.01	-20.4107	16.8192	0.85741	0.0:1.0:0.0:0.0	.	821	Q9P1Z0	ZBTB4_HUMAN	Q	821	ENSP00000307858:E821Q;ENSP00000369973:E821Q	ENSP00000307858:E821Q	E	-	1	0	ZBTB4	7306564	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	2.777000	0.47717	2.722000	0.93159	0.655000	0.94253	GAG	ZBTB4	-	NULL		0.642	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	C	NM_020899		7365840	-1	no_errors	ENST00000311403	ensembl	human	known	70_37	missense	SNP	0.998	G
ZBTB42	100128927	genome.wustl.edu	37	14	105268691	105268691	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:105268691G>A	ENST00000342537.7	+	1	1442	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q	ZBTB42_ENST00000555360.1_Missense_Mutation_p.R386Q	NM_001137601.1	NP_001131073.1	B2RXF5	ZBT42_HUMAN	zinc finger and BTB domain containing 42	386					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GTGCACACTCGAGAGAAGCCG	0.602																																																	0													45.0	55.0	52.0					14																	105268691		692	1590	2282	SO:0001583	missense	100128927			AX721091	CCDS45174.1	14q32.33	2013-01-09				ENSG00000179627		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	32550	protein-coding gene	gene with protein product		613915					Standard	NM_001137601		Approved	ZNF925	uc001ypp.3	B2RXF5		ENST00000342537.7:c.1157G>A	14.37:g.105268691G>A	ENSP00000409107:p.Arg386Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZW21	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R386Q	ENST00000342537.7	37	c.1157	CCDS45174.1	14	.	.	.	.	.	.	.	.	.	.	G	34	5.360987	0.95877	.	.	ENSG00000179627	ENST00000555360;ENST00000342537	T;T	0.17054	2.3;2.3	4.15	4.15	0.48705	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27798	0.0684	N	0.20401	0.57	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	T	0.12785	-1.0534	9	0.49607	T	0.09	.	16.6229	0.84934	0.0:0.0:1.0:0.0	.	386	B2RXF5	ZBT42_HUMAN	Q	386	ENSP00000450673:R386Q;ENSP00000409107:R386Q	ENSP00000409107:R386Q	R	+	2	0	ZBTB42	104339736	1.000000	0.71417	0.781000	0.31783	0.960000	0.62799	9.339000	0.96797	2.121000	0.65114	0.563000	0.77884	CGA	ZBTB42	-	pfscan_Znf_C2H2		0.602	ZBTB42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB42	HGNC	protein_coding	OTTHUMT00000410372.1	G			105268691	+1	no_errors	ENST00000342537	ensembl	human	known	70_37	missense	SNP	0.995	A
ZBTB44	29068	genome.wustl.edu	37	11	130103259	130103259	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:130103259C>A	ENST00000357899.4	-	7	1977	c.1705G>T	c.(1705-1707)Gaa>Taa	p.E569*	ZBTB44_ENST00000397753.1_Nonsense_Mutation_p.E569*|ZBTB44_ENST00000525842.1_3'UTR|ZBTB44_ENST00000530205.1_Missense_Mutation_p.G457V			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		AATCATGGTTCCTTGCCTTTG	0.388																																																	0																																										SO:0001587	stop_gained	29068			AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.1705G>T	11.37:g.130103259C>A	ENSP00000350574:p.Glu569*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IPT8|Q86VJ7|Q86XX5	Nonsense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E569*	ENST00000357899.4	37	c.1705		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.78|19.78	3.891493|3.891493	0.72524|0.72524	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000397753;ENST00000357899;ENST00000529982|ENST00000530205	.|T	.|0.13778	.|2.56	5.21|5.21	3.21|3.21	0.36854|0.36854	.|.	1.231580|.	0.05586|.	N|.	0.573846|.	.|T	.|0.13114	.|0.0318	.|.	.|.	.|.	0.25077|0.25077	N|N	0.99096|0.99096	.|B	.|0.16603	.|0.018	.|B	.|0.32928	.|0.155	.|T	.|0.25467	.|-1.0131	.|8	0.02654|0.41790	T|T	1|0.15	.|.	8.8884|8.8884	0.35418|0.35418	0.0:0.8038:0.0:0.1962|0.0:0.8038:0.0:0.1962	.|.	.|457	.|Q8NCP5-2	.|.	X|V	569;569;311|457	.|ENSP00000434177:G457V	ENSP00000350574:E569X|ENSP00000434177:G457V	E|G	-|-	1|2	0|0	ZBTB44|ZBTB44	129608469|129608469	0.086000|0.086000	0.21541|0.21541	0.366000|0.366000	0.25914|0.25914	0.174000|0.174000	0.22865|0.22865	1.300000|1.300000	0.33436|0.33436	1.432000|1.432000	0.47375|0.47375	0.650000|0.650000	0.86243|0.86243	GAA|GGA	ZBTB44	-	NULL		0.388	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	ZBTB44	HGNC	protein_coding	OTTHUMT00000386126.1	C	NM_014155		130103259	-1	no_errors	ENST00000357899	ensembl	human	known	70_37	nonsense	SNP	0.142	A
ZBTB6	10773	genome.wustl.edu	37	9	125673859	125673859	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:125673859C>T	ENST00000373659.3	-	2	581	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TCTGAAATTTCAATTATCTCA	0.353																																																	0													53.0	53.0	53.0					9																	125673859		2203	4299	6502	SO:0001583	missense	10773			X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.493G>A	9.37:g.125673859C>T	ENSP00000362763:p.Glu165Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8N6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E165K	ENST00000373659.3	37	c.493	CCDS6846.1	9	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349187	0.41599	.	.	ENSG00000186130	ENST00000373659	T	0.09073	3.02	5.96	5.96	0.96718	.	0.199745	0.41500	D	0.000880	T	0.12050	0.0293	L	0.57536	1.79	0.45295	D	0.998293	P	0.43826	0.818	B	0.41135	0.348	T	0.15037	-1.0451	10	0.09338	T	0.73	.	19.4101	0.94667	0.0:1.0:0.0:0.0	.	165	Q15916	ZBTB6_HUMAN	K	165	ENSP00000362763:E165K	ENSP00000362763:E165K	E	-	1	0	ZBTB6	124713680	0.990000	0.36364	1.000000	0.80357	0.997000	0.91878	2.311000	0.43717	2.832000	0.97577	0.655000	0.94253	GAA	ZBTB6	-	NULL		0.353	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB6	HGNC	protein_coding	OTTHUMT00000053962.1	C	NM_006626		125673859	-1	no_errors	ENST00000373659	ensembl	human	known	70_37	missense	SNP	1.000	T
ZC3H12A	80149	genome.wustl.edu	37	1	37941279	37941279	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:37941279C>A	ENST00000373087.6	+	2	298	c.182C>A	c.(181-183)tCa>tAa	p.S61*	RP11-422J8.1_ENST00000424989.1_RNA	NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A									p.S61L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGGCTATTCATCCACGGAG	0.642																																																	1	Substitution - Missense(1)	skin(1)											59.0	56.0	57.0					1																	37941279		2203	4300	6503	SO:0001587	stop_gained	80149				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.182C>A	1.37:g.37941279C>A	ENSP00000362179:p.Ser61*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_RNase_Zc3h12	p.S61*	ENST00000373087.6	37	c.182	CCDS417.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.239236	0.95240	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	.	.	.	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5436	16.8484	0.85987	0.0:1.0:0.0:0.0	.	.	.	.	X	61	.	ENSP00000362174:S61X	S	+	2	0	ZC3H12A	37713866	1.000000	0.71417	0.820000	0.32676	0.351000	0.29236	4.665000	0.61547	2.056000	0.61249	0.563000	0.77884	TCA	ZC3H12A	-	NULL		0.642	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12A	HGNC	protein_coding	OTTHUMT00000012154.2	C	NM_025079		37941279	+1	no_errors	ENST00000373082	ensembl	human	known	70_37	nonsense	SNP	0.999	A
ZC3H12C	85463	genome.wustl.edu	37	11	110035239	110035239	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:110035239G>A	ENST00000278590.3	+	6	1480	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.D446N|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D478N	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	477							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CACCAAGGCTGATAGCACTTC	0.478																																																	0													108.0	106.0	107.0					11																	110035239		1946	4139	6085	SO:0001583	missense	85463				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1429G>A	11.37:g.110035239G>A	ENSP00000278590:p.Asp477Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DI65|B4DR47	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.D477N	ENST00000278590.3	37	c.1429	CCDS44727.1	11	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256001	0.80246	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.34472	1.37;1.36;1.38	5.85	5.85	0.93711	.	1.046730	0.07351	N	0.882344	T	0.47655	0.1457	L	0.56769	1.78	0.43238	D	0.995141	P;P;P	0.52842	0.956;0.956;0.956	B;B;B	0.44224	0.444;0.444;0.444	T	0.53627	-0.8412	10	0.52906	T	0.07	-25.1002	20.1775	0.98187	0.0:0.0:1.0:0.0	.	478;477;477	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	N	477;478;446	ENSP00000278590:D477N;ENSP00000431821:D478N;ENSP00000413094:D446N	ENSP00000278590:D477N	D	+	1	0	ZC3H12C	109540449	1.000000	0.71417	0.881000	0.34555	0.977000	0.68977	6.133000	0.71682	2.771000	0.95319	0.561000	0.74099	GAT	ZC3H12C	-	NULL		0.478	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	G	NM_033390		110035239	+1	no_errors	ENST00000278590	ensembl	human	known	70_37	missense	SNP	0.995	A
ZC3H13	23091	genome.wustl.edu	37	13	46531324	46531324	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:46531324C>G	ENST00000242848.4	-	19	5293	c.4945G>C	c.(4945-4947)Gaa>Caa	p.E1649Q	ZC3H13_ENST00000378921.2_Missense_Mutation_p.E605Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1649							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCAGTCTTTTCATGTCCTGGA	0.398																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0																																										SO:0001583	missense	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.4945G>C	13.37:g.46531324C>G	ENSP00000242848:p.Glu1649Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E1649Q	ENST00000242848.4	37	c.4945		13	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450442	0.63290	.	.	ENSG00000123200	ENST00000242848;ENST00000378921	T;T	0.55234	2.13;0.53	5.14	5.14	0.70334	.	0.000000	0.56097	D	0.000030	T	0.74382	0.3709	.	.	.	0.51482	D	0.999925	D;D	0.67145	0.99;0.996	P;D	0.78314	0.815;0.991	T	0.77632	-0.2515	9	0.72032	D	0.01	.	18.964	0.92687	0.0:1.0:0.0:0.0	.	1649;234	Q5T200;B3KMG8	ZC3HD_HUMAN;.	Q	1649;605	ENSP00000242848:E1649Q;ENSP00000368201:E605Q	ENSP00000242848:E1649Q	E	-	1	0	ZC3H13	45429325	1.000000	0.71417	0.990000	0.47175	0.988000	0.76386	6.272000	0.72575	2.563000	0.86464	0.585000	0.79938	GAA	ZC3H13	-	NULL		0.398	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	C	NM_015070		46531324	-1	no_errors	ENST00000242848	ensembl	human	known	70_37	missense	SNP	1.000	G
ZC3H6	376940	genome.wustl.edu	37	2	113079381	113079381	+	Missense_Mutation	SNP	G	G	C	rs576950181		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:113079381G>C	ENST00000409871.1	+	8	1426	c.1025G>C	c.(1024-1026)gGa>gCa	p.G342A	ZC3H6_ENST00000343936.4_Missense_Mutation_p.G342A	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	342							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TGTTACCAGGGAGACAACTGT	0.303													G|||	1	0.000199681	0.0	0.0	5008	,	,		14745	0.001		0.0	False		,,,				2504	0.0																0													52.0	45.0	47.0					2																	113079381		1798	4068	5866	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.1025G>C	2.37:g.113079381G>C	ENSP00000386764:p.Gly342Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A9JR71|Q6ZW96	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.G342A	ENST00000409871.1	37	c.1025	CCDS46393.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.129759	0.94473	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.40476	1.03;1.03	5.53	5.53	0.82687	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.69052	0.3068	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72161	-0.4374	10	0.87932	D	0	-23.3866	19.816	0.96568	0.0:0.0:1.0:0.0	.	342	P61129	ZC3H6_HUMAN	A	342;342;319	ENSP00000386764:G342A;ENSP00000340298:G342A	ENSP00000340298:G342A	G	+	2	0	ZC3H6	112795852	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.387000	0.97232	2.755000	0.94549	0.637000	0.83480	GGA	ZC3H6	-	smart_Znf_CCCH		0.303	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1	G	NM_198581		113079381	+1	no_errors	ENST00000343936	ensembl	human	known	70_37	missense	SNP	1.000	C
ZC3H7B	23264	genome.wustl.edu	37	22	41745257	41745257	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:41745257G>T	ENST00000352645.4	+	16	2157	c.1900G>T	c.(1900-1902)Gcc>Tcc	p.A634S	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.A634S	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	650					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTGCCACTTCGCCCACAGCTT	0.632																																																	0													92.0	71.0	78.0					22																	41745257		2203	4300	6503	SO:0001583	missense	23264				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1900G>T	22.37:g.41745257G>T	ENSP00000345793:p.Ala634Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A634S	ENST00000352645.4	37	c.1900	CCDS14013.1	22	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713433	0.89112	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.51574	0.7;0.7	5.2	5.2	0.72013	.	0.049350	0.85682	D	0.000000	T	0.57504	0.2058	M	0.77486	2.375	0.80722	D	1	P	0.36944	0.574	B	0.40477	0.33	T	0.64778	-0.6327	10	0.87932	D	0	-27.8575	18.7452	0.91789	0.0:0.0:1.0:0.0	.	634	Q9UGR2-2	.	S	634	ENSP00000345793:A634S;ENSP00000263243:A634S	ENSP00000263243:A634S	A	+	1	0	ZC3H7B	40075203	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.790000	0.99075	2.435000	0.82474	0.514000	0.50259	GCC	ZC3H7B	-	smart_Znf_CCCH		0.632	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H7B	HGNC	protein_coding	OTTHUMT00000320696.1	G	NM_017590		41745257	+1	no_errors	ENST00000351589	ensembl	human	known	70_37	missense	SNP	1.000	T
ZC3HC1	51530	genome.wustl.edu	37	7	129688889	129688889	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:129688889C>G	ENST00000358303.4	-	2	326	c.242G>C	c.(241-243)aGa>aCa	p.R81T	ZC3HC1_ENST00000360708.5_Missense_Mutation_p.R81T|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.R60T|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.R81T	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	81					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TGTTTCCACTCTGCTAAAGAA	0.418																																					Melanoma(115;540 1606 16325 28853 48167)												0													179.0	164.0	169.0					7																	129688889		2203	4300	6503	SO:0001583	missense	51530			AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.242G>C	7.37:g.129688889C>G	ENSP00000351052:p.Arg81Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	pfam_Znf_C3HC-like,pfam_NIPA/Rsm1	p.R81T	ENST00000358303.4	37	c.242	CCDS34753.1	7	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138618	0.77775	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503;ENST00000480193	T;T;T;T	0.79033	-0.57;-1.23;-0.63;-1.07	5.72	4.84	0.62591	Zinc finger, C3HC-like (1);	0.000000	0.85682	D	0.000000	D	0.88247	0.6385	M	0.83223	2.63	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	D	0.89824	0.3991	10	0.87932	D	0	-17.4601	13.6242	0.62155	0.0:0.9247:0.0:0.0753	.	81	Q86WB0	NIPA_HUMAN	T	81;81;60;81;81	ENSP00000351052:R81T;ENSP00000353933:R81T;ENSP00000309301:R60T;ENSP00000418533:R81T	ENSP00000309301:R60T	R	-	2	0	ZC3HC1	129476125	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.225000	0.72271	1.437000	0.47472	0.586000	0.80456	AGA	ZC3HC1	-	pfam_Znf_C3HC-like		0.418	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HC1	HGNC	protein_coding	OTTHUMT00000349316.1	C	NM_016478		129688889	-1	no_errors	ENST00000358303	ensembl	human	known	70_37	missense	SNP	1.000	G
ZDBF2	57683	genome.wustl.edu	37	2	207170423	207170423	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:207170423G>A	ENST00000374423.3	+	5	1557	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	391							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTGGAAGGAGGAGCAAATTGA	0.408																																																	0													98.0	97.0	97.0					2																	207170423		1876	4118	5994	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1171G>A	2.37:g.207170423G>A	ENSP00000363545:p.Glu391Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.E391K	ENST00000374423.3	37	c.1171	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860622	0.51482	.	.	ENSG00000204186	ENST00000374423	T	0.57595	0.39	3.94	3.06	0.35304	.	0.245141	0.21036	N	0.081241	T	0.54983	0.1892	L	0.55481	1.735	0.09310	N	1	D	0.55172	0.97	P	0.51833	0.681	T	0.47355	-0.9124	10	0.54805	T	0.06	.	9.7161	0.40276	0.1017:0.0:0.8983:0.0	.	391	Q9HCK1	ZDBF2_HUMAN	K	391	ENSP00000363545:E391K	ENSP00000363545:E391K	E	+	1	0	ZDBF2	206878668	0.004000	0.15560	0.020000	0.16555	0.019000	0.09904	0.441000	0.21611	1.227000	0.43598	-0.300000	0.09419	GAG	ZDBF2	-	NULL		0.408	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	G	NM_020923		207170423	+1	no_errors	ENST00000374423	ensembl	human	known	70_37	missense	SNP	0.067	A
ZDBF2	57683	genome.wustl.edu	37	2	207173526	207173526	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:207173526C>G	ENST00000374423.3	+	5	4660	c.4274C>G	c.(4273-4275)tCt>tGt	p.S1425C		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1425							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S1425Y(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACTGATCAATCTTCTGTACCT	0.323																																																	2	Substitution - Missense(2)	large_intestine(2)											55.0	53.0	54.0					2																	207173526		1828	4088	5916	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4274C>G	2.37:g.207173526C>G	ENSP00000363545:p.Ser1425Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.S1425C	ENST00000374423.3	37	c.4274	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	C	0.835	-0.743763	0.03088	.	.	ENSG00000204186	ENST00000374423	T	0.54479	0.57	3.54	2.66	0.31614	.	.	.	.	.	T	0.46756	0.1409	L	0.58101	1.795	0.09310	N	1	B	0.24483	0.104	B	0.24848	0.056	T	0.45571	-0.9252	9	0.59425	D	0.04	.	6.6258	0.22828	0.0:0.8709:0.0:0.1291	.	1425	Q9HCK1	ZDBF2_HUMAN	C	1425	ENSP00000363545:S1425C	ENSP00000363545:S1425C	S	+	2	0	ZDBF2	206881771	0.030000	0.19436	0.005000	0.12908	0.047000	0.14425	0.981000	0.29526	1.069000	0.40788	0.650000	0.86243	TCT	ZDBF2	-	NULL		0.323	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	C	NM_020923		207173526	+1	no_errors	ENST00000374423	ensembl	human	known	70_37	missense	SNP	0.006	G
ZDHHC11B	653082	genome.wustl.edu	37	5	756160	756160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:756160G>A	ENST00000382776.4	-	2	321	c.322C>T	c.(322-324)Cag>Tag	p.Q108*	ZDHHC11B_ENST00000508859.2_Nonsense_Mutation_p.Q119*|ZDHHC11_ENST00000424784.2_Intron			P0C7U3	ZH11B_HUMAN	zinc finger, DHHC-type containing 11B	108						integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			lung(3)|stomach(1)	4						GGCATGGGCTGAGAATAGTTC	0.582																																																	0																																										SO:0001587	stop_gained	653082					5p15.33	2007-01-29				ENSG00000206077		"""Zinc fingers, DHHC-type"""	32962	protein-coding gene	gene with protein product							Standard	XM_003118532		Approved			P0C7U3		ENST00000382776.4:c.322C>T	5.37:g.756160G>A	ENSP00000445280:p.Gln108*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHR3	Nonsense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.Q108*	ENST00000382776.4	37	c.322		5	.	.	.	.	.	.	.	.	.	.	-	12.11	1.839035	0.32513	.	.	ENSG00000206077	ENST00000508859;ENST00000382776	.	.	.	3.41	-6.81	0.01704	.	1.713730	0.04547	U	0.389227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-16.7684	3.644	0.08177	0.1138:0.1953:0.4863:0.2046	.	.	.	.	X	119;108	.	ENSP00000445280:Q108X	Q	-	1	0	ZDHHC11B	809160	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.674000	0.00842	-3.119000	0.00239	-0.350000	0.07774	CAG	ZDHHC11B	-	NULL		0.582	ZDHHC11B-201	KNOWN	basic|appris_candidate	protein_coding	ZDHHC11B	HGNC	protein_coding		G	XM_926053		756160	-1	no_errors	ENST00000382776	ensembl	human	known	70_37	nonsense	SNP	0.000	A
TGM4	7047	genome.wustl.edu	37	3	44959380	44959380	+	IGR	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:44959380G>C	ENST00000296125.4	+	0	3388				ZDHHC3_ENST00000466084.1_5'UTR	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4						mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TCTCCCCACAGCAGCATCTAT	0.537																																																	0													67.0	50.0	55.0					3																	44959380		692	1591	2283	SO:0001628	intergenic_variant	51304			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096		3.37:g.44959380G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16707|Q96QN4	RNA	SNP	-	NULL	ENST00000296125.4	37	NULL	CCDS2723.1	3																																																																																			ZDHHC3	-	-		0.537	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC3	HGNC	protein_coding	OTTHUMT00000256755.2	G	NM_003241		44959380	-1	no_errors	ENST00000466084	ensembl	human	known	70_37	rna	SNP	0.001	C
ZDHHC19	131540	genome.wustl.edu	37	3	195935261	195935261	+	Missense_Mutation	SNP	G	G	C	rs576954717		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:195935261G>C	ENST00000296326.3	-	4	658	c.579C>G	c.(577-579)atC>atG	p.I193M	ZDHHC19_ENST00000488508.1_5'Flank	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	193						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GCGGATACGCGATGGCCTTGT	0.667																																																	0													70.0	78.0	75.0					3																	195935261		2122	4229	6351	SO:0001583	missense	131540			BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.579C>G	3.37:g.195935261G>C	ENSP00000296326:p.Ile193Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MSY6|B3KVI1	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.I193M	ENST00000296326.3	37	c.579	CCDS43190.1	3	.	.	.	.	.	.	.	.	.	.	g	4.600	0.111523	0.08831	.	.	ENSG00000163958	ENST00000296326	T	0.26957	1.7	5.6	-5.67	0.02444	.	0.949522	0.08807	N	0.890832	T	0.12561	0.0305	L	0.31476	0.935	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.28902	-1.0029	10	0.29301	T	0.29	-11.4383	1.7436	0.02958	0.307:0.3658:0.1604:0.1668	.	193	Q8WVZ1	ZDH19_HUMAN	M	193	ENSP00000296326:I193M	ENSP00000296326:I193M	I	-	3	3	ZDHHC19	197419658	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.832000	0.04400	-1.332000	0.02249	-2.519000	0.00185	ATC	ZDHHC19	-	NULL		0.667	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZDHHC19	HGNC	protein_coding	OTTHUMT00000341533.1	G	NM_144637		195935261	-1	no_errors	ENST00000296326	ensembl	human	known	70_37	missense	SNP	0.032	C
ZDHHC8P1	150244	genome.wustl.edu	37	22	23742709	23742709	+	RNA	SNP	G	G	C	rs743356	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:23742709G>C	ENST00000255890.4	-	0	500									zinc finger, DHHC-type containing 8 pseudogene 1																		GGCTCGGCTCGACACAAAGTC	0.612																																																	0																																												150244					22q11.23	2010-02-25	2010-02-25	2010-02-25	ENSG00000133519	ENSG00000133519			26461	pseudogene	pseudogene			"""zinc finger, DHHC-type containing 8 pseudogene"""	ZDHHC8P			Standard	NR_003950		Approved	FLJ31568	uc002zwz.5		OTTHUMG00000150650		22.37:g.23742709G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000255890.4	37	NULL		22																																																																																			ZDHHC8P1	-	-		0.612	ZDHHC8P1-001	KNOWN	basic	processed_transcript	ZDHHC8P1	HGNC	pseudogene	OTTHUMT00000319397.1	G	NR_003950		23742709	-1	no_errors	ENST00000255890	ensembl	human	known	70_37	rna	SNP	1.000	C
ZFAT	57623	genome.wustl.edu	37	8	135600571	135600571	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:135600571C>G	ENST00000377838.3	-	9	2805	c.2631G>C	c.(2629-2631)aaG>aaC	p.K877N	ZFAT_ENST00000523399.1_Missense_Mutation_p.K815N|ZFAT_ENST00000429442.2_Missense_Mutation_p.K865N|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520214.1_Missense_Mutation_p.K865N|ZFAT_ENST00000520356.1_Missense_Mutation_p.K865N|ZFAT_ENST00000520727.1_Missense_Mutation_p.K865N	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	877					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TCATGGCTCTCTTTCCAATTA	0.448																																																	0													67.0	62.0	64.0					8																	135600571		1888	4108	5996	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2631G>C	8.37:g.135600571C>G	ENSP00000367069:p.Lys877Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K877N	ENST00000377838.3	37	c.2631	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046797	0.75846	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42	5.71	4.83	0.62350	.	0.056921	0.64402	D	0.000002	T	0.22399	0.0540	N	0.24115	0.695	0.58432	D	0.999995	D;D;D	0.89917	0.999;0.999;1.0	P;D;D	0.69307	0.905;0.937;0.963	T	0.01420	-1.1359	10	0.72032	D	0.01	-35.7241	6.1853	0.20493	0.0:0.7668:0.0:0.2332	.	815;865;877	E9PER3;E9PBN4;Q9P243	.;.;ZFAT_HUMAN	N	865;865;865;877;865;764;815	ENSP00000427879:K865N;ENSP00000427831:K865N;ENSP00000394501:K865N;ENSP00000367069:K877N;ENSP00000428483:K865N;ENSP00000429091:K815N	ENSP00000326997:K764N	K	-	3	2	ZFAT	135669753	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	0.718000	0.25866	2.685000	0.91497	0.563000	0.77884	AAG	ZFAT	-	NULL		0.448	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	C	NM_001029939		135600571	-1	no_errors	ENST00000377838	ensembl	human	known	70_37	missense	SNP	1.000	G
ZFAT	57623	genome.wustl.edu	37	8	135649857	135649857	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:135649857C>T	ENST00000377838.3	-	3	469	c.295G>A	c.(295-297)Gag>Aag	p.E99K	ZFAT_ENST00000523399.1_Missense_Mutation_p.E99K|ZFAT_ENST00000429442.2_Missense_Mutation_p.E87K|ZFAT_ENST00000520214.1_Missense_Mutation_p.E87K|ZFAT_ENST00000520356.1_Missense_Mutation_p.E87K|ZFAT_ENST00000520727.1_Missense_Mutation_p.E87K	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	99					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGGCTGTCCTCAGTCGGACTC	0.577																																																	0													93.0	98.0	96.0					8																	135649857		2173	4271	6444	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.295G>A	8.37:g.135649857C>T	ENSP00000367069:p.Glu99Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E99K	ENST00000377838.3	37	c.295	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	C	7.389	0.630353	0.14322	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000522257;ENST00000518191	T;T;T;T;T;T;T;T	0.47177	2.99;2.92;2.93;2.92;2.92;2.95;0.85;1.42	5.15	5.15	0.70609	.	0.332317	0.27060	N	0.021139	T	0.32041	0.0816	L	0.29908	0.895	0.18873	N	0.999986	B;B;B;B	0.32245	0.003;0.361;0.017;0.003	B;B;B;B	0.27608	0.002;0.081;0.012;0.002	T	0.14420	-1.0473	10	0.13108	T	0.6	-26.654	13.0183	0.58771	0.0:0.9196:0.0:0.0804	.	99;87;87;99	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	K	87;87;87;99;87;87;99;87;37;87	ENSP00000427879:E87K;ENSP00000427831:E87K;ENSP00000394501:E87K;ENSP00000367069:E99K;ENSP00000428483:E87K;ENSP00000429091:E99K;ENSP00000429983:E37K;ENSP00000428192:E87K	ENSP00000326997:E87K	E	-	1	0	ZFAT	135719039	0.032000	0.19561	0.075000	0.20258	0.014000	0.08584	2.045000	0.41250	2.402000	0.81655	0.561000	0.74099	GAG	ZFAT	-	NULL		0.577	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	C	NM_001029939		135649857	-1	no_errors	ENST00000377838	ensembl	human	known	70_37	missense	SNP	0.127	T
ZFHX2	85446	genome.wustl.edu	37	14	23995850	23995850	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:23995850G>C	ENST00000419474.3	-	9	3656	c.3301C>G	c.(3301-3303)Ctt>Gtt	p.L1101V	RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA	NM_033400.2	NP_207646.2	Q9C0A1	ZFHX2_HUMAN	zinc finger homeobox 2	1101	Pro-rich.				adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	5						GGCTCAGGAAGAGGATCTGGA	0.582																																																	0																																										SO:0001583	missense	85446			AB051549	CCDS55907.1	14q11.2	2012-03-09			ENSG00000136367	ENSG00000136367		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	20152	protein-coding gene	gene with protein product			"""zinc finger protein 409"""	ZNF409		11214970, 10470851	Standard	NM_033400		Approved	KIAA1762, KIAA1056, ZFH-5	uc010tno.2	Q9C0A1	OTTHUMG00000156894	ENST00000419474.3:c.3301C>G	14.37:g.23995850G>C	ENSP00000413418:p.Leu1101Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UPU6	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.L1101V	ENST00000419474.3	37	c.3301	CCDS55907.1	14	.	.	.	.	.	.	.	.	.	.	G	9.374	1.071286	0.20147	.	.	ENSG00000136367	ENST00000419474	T	0.78364	-1.17	5.8	4.89	0.63831	.	0.913050	0.09029	N	0.859074	T	0.68485	0.3006	L	0.31664	0.95	0.19300	N	0.999979	B	0.06786	0.001	B	0.06405	0.002	T	0.50964	-0.8765	10	0.15499	T	0.54	.	14.0052	0.64459	0.0:0.1517:0.8483:0.0	.	1101	Q9C0A1	ZFHX2_HUMAN	V	1101	ENSP00000413418:L1101V	ENSP00000413418:L1101V	L	-	1	0	ZFHX2	23065690	1.000000	0.71417	0.743000	0.31040	0.922000	0.55478	2.579000	0.46059	1.423000	0.47198	0.467000	0.42956	CTT	ZFHX2	-	NULL		0.582	ZFHX2-001	KNOWN	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ZFHX2	HGNC	protein_coding	OTTHUMT00000346484.3	G	NM_014894		23995850	-1	no_errors	ENST00000419474	ensembl	human	known	70_37	missense	SNP	0.959	C
ZFP36	7538	genome.wustl.edu	37	19	39898437	39898437	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:39898437G>C	ENST00000248673.3	+	2	137	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	ZFP36_ENST00000594045.1_3'UTR|MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Missense_Mutation_p.E33Q	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	27					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGAGGGACTGAGTCCAGCCC	0.687																																					NSCLC(67;1164 1324 12056 21056 30097)												0													72.0	81.0	78.0					19																	39898437		2202	4299	6501	SO:0001583	missense	7538			M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.79G>C	19.37:g.39898437G>C	ENSP00000248673:p.Glu27Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA54	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E33Q	ENST00000248673.3	37	c.97		19	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740261	0.30865	.	.	ENSG00000128016	ENST00000248673	T	0.18960	2.18	2.44	2.44	0.29823	.	21.783200	0.00166	U	0.000002	T	0.13841	0.0335	L	0.27053	0.805	0.09310	N	1	P	0.35155	0.487	B	0.29440	0.102	T	0.20273	-1.0280	10	0.19590	T	0.45	-4.5858	4.935	0.13935	0.178:0.0:0.822:0.0	.	27	P26651	TTP_HUMAN	Q	27	ENSP00000248673:E27Q	ENSP00000248673:E27Q	E	+	1	0	ZFP36	44590277	0.938000	0.31826	0.680000	0.29994	0.919000	0.55068	2.602000	0.46257	1.199000	0.43173	0.478000	0.44815	GAG	ZFP36	-	NULL		0.687	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	ZFP36	HGNC	protein_coding		G			39898437	+1	no_errors	ENST00000597629	ensembl	human	known	70_37	missense	SNP	0.210	C
ZFP36	7538	genome.wustl.edu	37	19	39898586	39898586	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:39898586C>G	ENST00000248673.3	+	2	286	c.228C>G	c.(226-228)ttC>ttG	p.F76L	ZFP36_ENST00000594045.1_3'UTR|MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Missense_Mutation_p.F82L	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	76					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCCTGGCTTCGCACCGCTGG	0.706																																					NSCLC(67;1164 1324 12056 21056 30097)												0													18.0	22.0	20.0					19																	39898586		2189	4273	6462	SO:0001583	missense	7538			M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.228C>G	19.37:g.39898586C>G	ENSP00000248673:p.Phe76Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA54	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.F82L	ENST00000248673.3	37	c.246		19	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414922	0.62511	.	.	ENSG00000128016	ENST00000248673	T	0.17691	2.26	3.91	-5.74	0.02391	.	0.192139	0.36778	N	0.002401	T	0.07324	0.0185	L	0.27053	0.805	0.31470	N	0.668526	B	0.17038	0.02	B	0.15484	0.013	T	0.35919	-0.9769	10	0.14656	T	0.56	-10.4583	6.8344	0.23927	0.1233:0.2379:0.0:0.6388	.	76	P26651	TTP_HUMAN	L	76	ENSP00000248673:F76L	ENSP00000248673:F76L	F	+	3	2	ZFP36	44590426	0.000000	0.05858	0.967000	0.41034	0.894000	0.52154	-2.057000	0.01395	-0.909000	0.03852	-0.275000	0.10095	TTC	ZFP36	-	NULL		0.706	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	ZFP36	HGNC	protein_coding		C			39898586	+1	no_errors	ENST00000597629	ensembl	human	known	70_37	missense	SNP	0.378	G
ZFP37	7539	genome.wustl.edu	37	9	115805337	115805337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:115805337G>A	ENST00000374227.3	-	4	1588	c.1561C>T	c.(1561-1563)Caa>Taa	p.Q521*	ZFP37_ENST00000555206.1_Nonsense_Mutation_p.Q522*|ZFP37_ENST00000553380.1_Nonsense_Mutation_p.Q536*	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTCCCACATTGATTACATTCA	0.383																																																	0													67.0	66.0	66.0					9																	115805337		2203	4300	6503	SO:0001587	stop_gained	7539			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1561C>T	9.37:g.115805337G>A	ENSP00000363344:p.Gln521*	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q536*	ENST00000374227.3	37	c.1606	CCDS6787.1	9	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044022	0.75732	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	.	.	.	4.32	4.32	0.51571	.	0.171912	0.28072	N	0.016704	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-9.1731	10.6022	0.45373	0.0:0.1948:0.8052:0.0	.	.	.	.	X	521;522;536	.	ENSP00000363344:Q521X	Q	-	1	0	ZFP37	114845158	0.000000	0.05858	0.994000	0.49952	0.998000	0.95712	0.548000	0.23314	2.681000	0.91329	0.655000	0.94253	CAA	ZFP37	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZFP37-001	KNOWN	basic|CCDS	protein_coding	ZFP37	HGNC	protein_coding	OTTHUMT00000055439.1	G	NM_003408		115805337	-1	no_errors	ENST00000553380	ensembl	human	known	70_37	nonsense	SNP	0.537	A
ZFP41	286128	genome.wustl.edu	37	8	144332331	144332331	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:144332331G>C	ENST00000330701.4	+	2	687	c.318G>C	c.(316-318)caG>caC	p.Q106H	ZFP41_ENST00000520584.1_Missense_Mutation_p.Q106H|ZFP41_ENST00000522452.1_Missense_Mutation_p.Q106H	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	106					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TTCGCCATCAGAGGGTCCACA	0.557																																																	0													87.0	86.0	86.0					8																	144332331		2203	4300	6503	SO:0001583	missense	286128				CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"""Zinc fingers, C2H2-type"""	26786	protein-coding gene	gene with protein product			"""zinc finger protein 41 homolog (mouse)"""			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.318G>C	8.37:g.144332331G>C	ENSP00000327427:p.Gln106His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWJ5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q106H	ENST00000330701.4	37	c.318	CCDS6397.1	8	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263752	0.39995	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.42513	0.97;0.97;0.97	3.56	2.65	0.31530	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27765	0.0683	L	0.43757	1.38	0.28932	N	0.89152	P	0.35551	0.509	B	0.25884	0.064	T	0.21348	-1.0248	9	0.49607	T	0.09	-25.2751	5.1388	0.14948	0.1219:0.2135:0.6646:0.0	.	106	Q8N8Y5	ZFP41_HUMAN	H	106	ENSP00000430465:Q106H;ENSP00000327427:Q106H;ENSP00000428966:Q106H	ENSP00000327427:Q106H	Q	+	3	2	ZFP41	144403706	0.623000	0.27094	0.147000	0.22382	0.724000	0.41520	2.959000	0.49153	1.828000	0.53243	0.467000	0.42956	CAG	ZFP41	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.557	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZFP41	HGNC	protein_coding	OTTHUMT00000381114.2	G	NM_173832		144332331	+1	no_errors	ENST00000330701	ensembl	human	known	70_37	missense	SNP	0.940	C
ZFYVE1	53349	genome.wustl.edu	37	14	73441663	73441663	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:73441663C>T	ENST00000556143.1	-	10	2531	c.1811G>A	c.(1810-1812)tGc>tAc	p.C604Y	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.C604Y|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.C189Y|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.C590Y|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.C189Y|ZFYVE1_ENST00000554145.1_5'UTR	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	604					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		ACACTTGTTGCAGCTCTGTTC	0.507																																																	0													72.0	69.0	70.0					14																	73441663		2203	4300	6503	SO:0001583	missense	53349			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1811G>A	14.37:g.73441663C>T	ENSP00000450742:p.Cys604Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.C604Y	ENST00000556143.1	37	c.1811	CCDS9811.1	14	.	.	.	.	.	.	.	.	.	.	C	32	5.158967	0.94686	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143;ENST00000394207;ENST00000555072	D;D;D;D;D	0.99845	-7.12;-7.12;-7.12;-7.12;-7.12	6.17	6.17	0.99709	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.091921	0.85682	D	0.000000	D	0.99928	0.9967	H	0.99820	4.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.96087	0.9058	10	0.87932	D	0	-21.3611	20.8794	0.99867	0.0:1.0:0.0:0.0	.	604;604	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	Y	604;590;604;189;189	ENSP00000452442:C604Y;ENSP00000326921:C590Y;ENSP00000450742:C604Y;ENSP00000377757:C189Y;ENSP00000452232:C189Y	ENSP00000326921:C604Y	C	-	2	0	ZFYVE1	72511416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TGC	ZFYVE1	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel		0.507	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	HGNC	protein_coding	OTTHUMT00000413172.1	C	NM_021260		73441663	-1	no_errors	ENST00000553891	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFYVE16	9765	genome.wustl.edu	37	5	79734302	79734302	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:79734302G>C	ENST00000338008.5	+	3	1978	c.1798G>C	c.(1798-1800)Gat>Cat	p.D600H	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D600H|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D600H	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	600					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TGAAATAGTTGATAAACAAAA	0.323																																					Melanoma(150;1452 1854 16018 17851 37292)												0													63.0	73.0	69.0					5																	79734302		2202	4294	6496	SO:0001583	missense	9765			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.1798G>C	5.37:g.79734302G>C	ENSP00000337159:p.Asp600His	Somatic		WXS	Illumina HiSeq	Phase_IV	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.D600H	ENST00000338008.5	37	c.1798	CCDS4050.1	5	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819692	0.50633	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.45668	0.89;0.89;0.89	5.42	5.42	0.78866	.	0.098652	0.44688	D	0.000423	T	0.43656	0.1257	L	0.36672	1.1	0.40744	D	0.982859	P;D	0.60575	0.86;0.988	B;P	0.50231	0.243;0.635	T	0.38693	-0.9649	10	0.56958	D	0.05	-16.5799	14.1973	0.65679	0.0:0.1494:0.8506:0.0	.	600;600	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	H	600	ENSP00000337159:D600H;ENSP00000423663:D600H;ENSP00000426848:D600H	ENSP00000337159:D600H	D	+	1	0	ZFYVE16	79770058	0.905000	0.30787	0.999000	0.59377	0.851000	0.48451	0.786000	0.26844	2.716000	0.92895	0.650000	0.86243	GAT	ZFYVE16	-	pirsf_Znf_FYVE_SARA/endofin		0.323	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE16	HGNC	protein_coding	OTTHUMT00000226982.2	G	NM_014733		79734302	+1	no_errors	ENST00000338008	ensembl	human	known	70_37	missense	SNP	0.959	C
ZFYVE28	57732	genome.wustl.edu	37	4	2307235	2307235	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:2307235C>T	ENST00000290974.2	-	8	1171	c.832G>A	c.(832-834)Gag>Aag	p.E278K	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.E248K|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.E208K|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	278					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTGTGCAGCTCCTCCTCCGTC	0.622																																																	0													43.0	39.0	40.0					4																	2307235		2203	4299	6502	SO:0001583	missense	57732			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.832G>A	4.37:g.2307235C>T	ENSP00000290974:p.Glu278Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.E278K	ENST00000290974.2	37	c.832	CCDS33942.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.278305	0.95459	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.28069	1.63;1.63;1.63	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.61657	-0.7018	10	0.87932	D	0	.	18.3901	0.90479	0.0:1.0:0.0:0.0	.	248;278	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	K	278;248;208	ENSP00000290974:E278K;ENSP00000425706:E248K;ENSP00000426299:E208K	ENSP00000290974:E278K	E	-	1	0	ZFYVE28	2277033	1.000000	0.71417	0.999000	0.59377	0.757000	0.42996	7.123000	0.77176	2.581000	0.87130	0.585000	0.79938	GAG	ZFYVE28	-	NULL		0.622	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1	C	XM_035371		2307235	-1	no_errors	ENST00000290974	ensembl	human	known	70_37	missense	SNP	1.000	T
ZG16B	124220	genome.wustl.edu	37	16	2881978	2881978	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2881978G>C	ENST00000382280.3	+	4	524	c.445G>C	c.(445-447)Gat>Cat	p.D149H	ZG16B_ENST00000572863.1_Missense_Mutation_p.D119H	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	149					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TGGGAAGCTTGATGGCCAGAT	0.517																																																	0													63.0	66.0	65.0					16																	2881978		1963	4159	6122	SO:0001583	missense	124220			BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"""jacalin-like lectin domain containing 2"""		"""zymogen granule protein 16 homolog B (rat)"""			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.445G>C	16.37:g.2881978G>C	ENSP00000371715:p.Asp149His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIY1|B2R4F6|Q6UW28	Missense_Mutation	SNP	superfamily_Mannose-bd_lectin,smart_Mannose-bd_lectin	p.D149H	ENST00000382280.3	37	c.445	CCDS10479.2	16	.	.	.	.	.	.	.	.	.	.	g	12.16	1.853307	0.32699	.	.	ENSG00000162078	ENST00000382280	T	0.30714	1.52	3.2	-0.477	0.12097	Mannose-binding lectin (3);	4.056830	0.00846	N	0.001792	T	0.30039	0.0752	L	0.29908	0.895	0.09310	N	1	D	0.57899	0.981	P	0.49226	0.603	T	0.18335	-1.0340	10	0.48119	T	0.1	8.7335	5.645	0.17584	0.4837:0.0:0.5163:0.0	.	149	Q96DA0	ZG16B_HUMAN	H	149	ENSP00000371715:D149H	ENSP00000371715:D149H	D	+	1	0	ZG16B	2821979	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.359000	0.02602	-0.055000	0.13244	0.556000	0.70494	GAT	ZG16B	-	superfamily_Mannose-bd_lectin,smart_Mannose-bd_lectin		0.517	ZG16B-001	KNOWN	basic|CCDS	protein_coding	ZG16B	HGNC	protein_coding	OTTHUMT00000250912.1	G	NM_145252		2881978	+1	no_errors	ENST00000382280	ensembl	human	known	70_37	missense	SNP	0.000	C
ZMAT4	79698	genome.wustl.edu	37	8	40554830	40554830	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:40554830G>C	ENST00000297737.6	-	4	429	c.283C>G	c.(283-285)Caa>Gaa	p.Q95E	ZMAT4_ENST00000315769.7_Missense_Mutation_p.Q95E	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	95						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			ATTTTGCCTTGATAATGGGAA	0.517																																																	0													168.0	154.0	159.0					8																	40554830		2203	4300	6503	SO:0001583	missense	79698			AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.283C>G	8.37:g.40554830G>C	ENSP00000297737:p.Gln95Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WUT8	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.Q95E	ENST00000297737.6	37	c.283	CCDS34885.1	8	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098645	0.76870	.	.	ENSG00000165061	ENST00000315769;ENST00000297737;ENST00000519406	T;T;T	0.25579	1.79;1.79;1.79	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.43299	0.1241	L	0.41573	1.285	0.54753	D	0.999985	B;D	0.71674	0.022;0.998	B;D	0.80764	0.032;0.994	T	0.01956	-1.1240	10	0.19147	T	0.46	-27.1369	19.8676	0.96824	0.0:0.0:1.0:0.0	.	95;95	Q9H898-2;Q9H898	.;ZMAT4_HUMAN	E	95	ENSP00000319785:Q95E;ENSP00000297737:Q95E;ENSP00000428423:Q95E	ENSP00000297737:Q95E	Q	-	1	0	ZMAT4	40673987	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.258000	0.95555	2.941000	0.99782	0.655000	0.94253	CAA	ZMAT4	-	smart_Znf_U1,smart_Znf_C2H2-like		0.517	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT4	HGNC	protein_coding	OTTHUMT00000376950.1	G	NM_024645		40554830	-1	no_errors	ENST00000297737	ensembl	human	known	70_37	missense	SNP	1.000	C
ZMIZ2	83637	genome.wustl.edu	37	7	44796622	44796622	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:44796622C>T	ENST00000309315.4	+	4	365	c.242C>T	c.(241-243)tCc>tTc	p.S81F	ZMIZ2_ENST00000433667.1_Intron|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S81F|ZMIZ2_ENST00000413916.1_Intron|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S81F	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	81	Gly-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GGGGGCAGCTCCGCCTTGACC	0.642																																					NSCLC(20;604 852 1948 16908 50522)												0													62.0	66.0	65.0					7																	44796622		2010	4152	6162	SO:0001583	missense	83637			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.242C>T	7.37:g.44796622C>T	ENSP00000311778:p.Ser81Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.S81F	ENST00000309315.4	37	c.242	CCDS43576.1	7	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707057	0.68615	.	.	ENSG00000122515	ENST00000457123;ENST00000309315;ENST00000441627;ENST00000265346;ENST00000414051	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.04	5.04	0.67666	.	0.711986	0.12672	N	0.448714	T	0.30823	0.0777	N	0.22421	0.69	0.25147	N	0.990454	P;P	0.42649	0.786;0.773	P;B	0.47251	0.542;0.392	T	0.14671	-1.0464	10	0.51188	T	0.08	-4.4652	13.8737	0.63638	0.0:0.8471:0.1528:0.0	.	81;81	Q8NF64-2;Q8NF64	.;ZMIZ2_HUMAN	F	81	ENSP00000415501:S81F;ENSP00000311778:S81F;ENSP00000414723:S81F;ENSP00000265346:S81F	ENSP00000265346:S81F	S	+	2	0	ZMIZ2	44763147	0.587000	0.26791	0.932000	0.37286	0.934000	0.57294	1.909000	0.39917	2.601000	0.87937	0.655000	0.94253	TCC	ZMIZ2	-	NULL		0.642	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ2	HGNC	protein_coding	OTTHUMT00000341790.1	C	NM_031449		44796622	+1	no_errors	ENST00000309315	ensembl	human	known	70_37	missense	SNP	0.676	T
ZMYM6	9204	genome.wustl.edu	37	1	35469541	35469541	+	Intron	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:35469541C>G	ENST00000357182.4	-	14	2220				ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000493328.1_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6						cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GTGGCATTATCAAGAAAAGTA	0.318																																																	0													65.0	62.0	63.0					1																	35469541		2202	4298	6500	SO:0001627	intron_variant	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1992+27G>C	1.37:g.35469541C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	RNA	SNP	-	NULL	ENST00000357182.4	37	NULL	CCDS387.2	1																																																																																			ZMYM6	-	-		0.318	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1	C	NM_007167		35469541	-1	no_errors	ENST00000466345	ensembl	human	known	70_37	rna	SNP	0.006	G
ZNF136	7695	genome.wustl.edu	37	19	12297438	12297438	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:12297438G>A	ENST00000343979.4	+	4	385	c.245G>A	c.(244-246)gGa>gAa	p.G82E	ZNF136_ENST00000398616.2_Missense_Mutation_p.G16E	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	82	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CAGCGTGGAGGAATTTTTAGC	0.373																																																	0													79.0	78.0	78.0					19																	12297438		2203	4300	6503	SO:0001583	missense	7695			U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.245G>A	19.37:g.12297438G>A	ENSP00000344162:p.Gly82Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G82E	ENST00000343979.4	37	c.245	CCDS32916.1	19	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.060417	0.00386	.	.	ENSG00000196646	ENST00000439995;ENST00000343979;ENST00000398616	T;T;T	0.04406	4.42;3.63;3.67	1.4	-1.25	0.09405	Krueppel-associated box (1);	.	.	.	.	T	0.00967	0.0032	N	0.00170	-1.935	0.09310	N	1	B	0.13594	0.008	B	0.11329	0.006	T	0.47209	-0.9135	8	.	.	.	.	4.614	0.12417	0.405:0.0:0.595:0.0	.	82	P52737	ZN136_HUMAN	E	16;82;16	ENSP00000388759:G16E;ENSP00000344162:G82E;ENSP00000381617:G16E	.	G	+	2	0	ZNF136	12158438	0.001000	0.12720	0.000000	0.03702	0.042000	0.13812	0.152000	0.16302	-0.382000	0.07870	0.655000	0.94253	GGA	ZNF136	-	pfscan_Krueppel-associated_box		0.373	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF136	HGNC	protein_coding	OTTHUMT00000344151.2	G	NM_003437		12297438	+1	no_errors	ENST00000343979	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF136	7695	genome.wustl.edu	37	19	12298265	12298265	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:12298265C>G	ENST00000343979.4	+	4	1212	c.1072C>G	c.(1072-1074)Cac>Gac	p.H358D	ZNF136_ENST00000398616.2_Missense_Mutation_p.H292D	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	358					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TGAAAGGACTCACACTGGAGA	0.398																																																	0													73.0	74.0	74.0					19																	12298265		2203	4300	6503	SO:0001583	missense	7695			U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.1072C>G	19.37:g.12298265C>G	ENSP00000344162:p.His358Asp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H358D	ENST00000343979.4	37	c.1072	CCDS32916.1	19	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368503	0.82463	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.67698	-0.28;-0.28	1.4	1.4	0.22301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85120	0.5624	H	0.96239	3.79	0.42046	D	0.991097	D	0.76494	0.999	D	0.83275	0.996	D	0.87440	0.2394	8	.	.	.	.	10.3955	0.44198	0.0:1.0:0.0:0.0	.	358	P52737	ZN136_HUMAN	D	358;292	ENSP00000344162:H358D;ENSP00000381617:H292D	.	H	+	1	0	ZNF136	12159265	1.000000	0.71417	0.028000	0.17463	0.991000	0.79684	6.077000	0.71275	1.072000	0.40860	0.655000	0.94253	CAC	ZNF136	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF136	HGNC	protein_coding	OTTHUMT00000344151.2	C	NM_003437		12298265	+1	no_errors	ENST00000343979	ensembl	human	known	70_37	missense	SNP	0.996	G
ZNF182	7569	genome.wustl.edu	37	X	47842379	47842379	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:47842379C>T	ENST00000396965.1	-	6	609	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	ZNF182_ENST00000376943.3_Missense_Mutation_p.E68K|ZNF182_ENST00000305127.6_Missense_Mutation_p.E87K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	87	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						ATTTTTCCTTCTGCCGGGCAT	0.483																																																	0													104.0	85.0	91.0					X																	47842379		2203	4300	6503	SO:0001583	missense	7569			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.259G>A	X.37:g.47842379C>T	ENSP00000380165:p.Glu87Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E87K	ENST00000396965.1	37	c.259	CCDS35236.1	X	.	.	.	.	.	.	.	.	.	.	C	5.212	0.224597	0.09916	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.06933	3.24;3.24;3.24	4.41	4.41	0.53225	Krueppel-associated box (2);	.	.	.	.	T	0.04998	0.0134	N	0.11154	0.105	0.24072	N	0.995973	B;B;P	0.34522	0.116;0.247;0.455	B;B;B	0.32211	0.014;0.063;0.142	T	0.37731	-0.9693	9	0.31617	T	0.26	.	11.2867	0.49226	0.0:1.0:0.0:0.0	.	68;68;87	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	K	68;87;87	ENSP00000366142:E68K;ENSP00000380165:E87K;ENSP00000306351:E87K	ENSP00000306351:E87K	E	-	1	0	ZNF182	47727323	0.991000	0.36638	0.657000	0.29651	0.035000	0.12851	1.999000	0.40806	2.434000	0.82447	0.594000	0.82650	GAA	ZNF182	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.483	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF182	HGNC	protein_coding	OTTHUMT00000277055.1	C	NM_006962		47842379	-1	no_errors	ENST00000305127	ensembl	human	known	70_37	missense	SNP	0.645	T
ZNF215	7762	genome.wustl.edu	37	11	6953894	6953894	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:6953894G>C	ENST00000278319.5	+	3	979	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	ZNF215_ENST00000529903.1_Missense_Mutation_p.E131Q|ZNF215_ENST00000414517.2_Missense_Mutation_p.E131Q|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	131					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TGAAATGCTTGAAGATGAAGG	0.368																																																	0													44.0	47.0	46.0					11																	6953894		2199	4296	6495	SO:0001583	missense	7762			AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.391G>C	11.37:g.6953894G>C	ENSP00000278319:p.Glu131Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96C84	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E131Q	ENST00000278319.5	37	c.391	CCDS7775.1	11	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721663	0.30503	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.04454	3.62;3.62;3.62	4.14	-4.26	0.03755	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.744776	0.11512	N	0.556560	T	0.04182	0.0116	L	0.48218	1.51	0.09310	N	1	B;P;B	0.37914	0.192;0.611;0.192	B;B;B	0.35114	0.142;0.196;0.091	T	0.20773	-1.0265	10	0.56958	D	0.05	-4.1001	6.5196	0.22266	0.3497:0.1629:0.4874:0.0	.	131;131;131	B4DYW9;Q96C84;Q9UL58	.;.;ZN215_HUMAN	Q	131	ENSP00000278319:E131Q;ENSP00000393202:E131Q;ENSP00000432306:E131Q	ENSP00000278319:E131Q	E	+	1	0	ZNF215	6910470	0.001000	0.12720	0.005000	0.12908	0.326000	0.28443	0.130000	0.15850	-0.810000	0.04375	-0.290000	0.09829	GAA	ZNF215	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN		0.368	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF215	HGNC	protein_coding	OTTHUMT00000384550.1	G			6953894	+1	no_errors	ENST00000278319	ensembl	human	known	70_37	missense	SNP	0.009	C
ZNF214	7761	genome.wustl.edu	37	11	7022556	7022556	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:7022556C>G	ENST00000278314.4	-	3	673	c.358G>C	c.(358-360)Gaa>Caa	p.E120Q	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.E120Q	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		AAAGTCAGTTCATAGTTCCCA	0.398																																					Ovarian(22;251 657 736 21522 46864)												0													210.0	218.0	215.0					11																	7022556		2201	4295	6496	SO:0001583	missense	7761			AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.358G>C	11.37:g.7022556C>G	ENSP00000278314:p.Glu120Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8Q1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E120Q	ENST00000278314.4	37	c.358	CCDS31418.1	11	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.714957	0.00706	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.05925	3.37;3.37	4.14	2.26	0.28386	.	0.533330	0.15748	N	0.246582	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.47598	-0.9105	10	0.13108	T	0.6	.	4.4854	0.11787	0.0:0.6096:0.1846:0.2058	.	120	Q9UL59	ZN214_HUMAN	Q	120	ENSP00000278314:E120Q;ENSP00000445373:E120Q	ENSP00000278314:E120Q	E	-	1	0	ZNF214	6979132	.	.	0.423000	0.26634	0.031000	0.12232	.	.	0.517000	0.28361	-0.140000	0.14226	GAA	ZNF214	-	NULL		0.398	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF214	HGNC	protein_coding	OTTHUMT00000385349.1	C			7022556	-1	no_errors	ENST00000278314	ensembl	human	known	70_37	missense	SNP	0.013	G
ZNF219	51222	genome.wustl.edu	37	14	21561008	21561008	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:21561008C>G	ENST00000360947.3	-	3	859	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_Missense_Mutation_p.E150Q|ZNF219_ENST00000451119.2_Missense_Mutation_p.E150Q|ZNF219_ENST00000556101.1_5'Flank	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	150					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GCCAGACCCTCAGTGGCAGGG	0.677											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14.0	19.0	17.0					14																	21561008		2185	4295	6480	SO:0001583	missense	51222			AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"""Zinc fingers, C2H2-type"""	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.448G>C	14.37:g.21561008C>G	ENSP00000354206:p.Glu150Gln	Somatic	749	WXS	Illumina HiSeq	Phase_IV	D3DS16|Q53Y57|Q8IYC1|Q9BW28	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_recept	p.E150Q	ENST00000360947.3	37	c.448	CCDS9568.1	14	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654137	0.29425	.	.	ENSG00000165804	ENST00000360947;ENST00000451119;ENST00000421093;ENST00000555270	T;T;T;T	0.46063	0.88;0.88;0.88;3.5	4.9	4.9	0.64082	.	0.343119	0.27645	N	0.018453	T	0.30792	0.0776	N	0.08118	0	0.31958	N	0.608784	D	0.59357	0.985	P	0.47206	0.541	T	0.35649	-0.9780	10	0.46703	T	0.11	-20.6268	15.6263	0.76859	0.0:1.0:0.0:0.0	.	150	Q9P2Y4	ZN219_HUMAN	Q	150	ENSP00000354206:E150Q;ENSP00000388558:E150Q;ENSP00000392401:E150Q;ENSP00000450803:E150Q	ENSP00000354206:E150Q	E	-	1	0	ZNF219	20630848	0.273000	0.24181	0.776000	0.31678	0.334000	0.28698	1.910000	0.39927	2.550000	0.86006	0.591000	0.81541	GAG	ZNF219	-	NULL		0.677	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF219	HGNC	protein_coding	OTTHUMT00000073931.2	C			21561008	-1	no_errors	ENST00000360947	ensembl	human	known	70_37	missense	SNP	0.785	G
ZNF22	7570	genome.wustl.edu	37	10	45499194	45499194	+	Silent	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:45499194C>A	ENST00000298299.3	+	2	971	c.378C>A	c.(376-378)ctC>ctA	p.L126L	CEP164P1_ENST00000456938.2_RNA|C10orf25_ENST00000298298.1_5'Flank	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	126					odontogenesis (GO:0042476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L126L(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				GCTCAAATCTCATTCAGCACC	0.453																																																	1	Substitution - coding silent(1)	breast(1)											77.0	77.0	77.0					10																	45499194		2203	4300	6503	SO:0001819	synonymous_variant	7570			BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"""Zinc fingers, C2H2-type"""	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.378C>A	10.37:g.45499194C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T741|Q96FM4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L126	ENST00000298299.3	37	c.378	CCDS7211.1	10																																																																																			ZNF22	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF22	HGNC	protein_coding	OTTHUMT00000047761.1	C	NM_006963		45499194	+1	no_errors	ENST00000298299	ensembl	human	known	70_37	silent	SNP	0.961	A
ZNF23	7571	genome.wustl.edu	37	16	71481924	71481924	+	3'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:71481924C>G	ENST00000393539.2	-	0	2817				ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000564528.1_3'UTR|ZNF23_ENST00000417828.1_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000357254.4_3'UTR|ZNF23_ENST00000428724.2_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000497160.1_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GGAGGTTTTTCAATGGATGAA	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	7571			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.*72G>C	16.37:g.71481924C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDP5|Q96IT3|Q9UG42	RNA	SNP	-	NULL	ENST00000393539.2	37	NULL	CCDS10900.1	16																																																																																			ZNF23	-	-		0.338	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF23	HGNC	protein_coding	OTTHUMT00000268985.23	C	NM_145911		71481924	-1	no_errors	ENST00000539742	ensembl	human	known	70_37	rna	SNP	0.001	G
ZNF236	7776	genome.wustl.edu	37	18	74639327	74639327	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:74639327C>G	ENST00000253159.8	+	24	4460	c.4262C>G	c.(4261-4263)tCt>tGt	p.S1421C	ZNF236_ENST00000320610.9_Missense_Mutation_p.S1423C	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1421					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAGAACAGCTCTCTCCAGACA	0.582																																																	0													60.0	63.0	62.0					18																	74639327		2046	4188	6234	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4262C>G	18.37:g.74639327C>G	ENSP00000253159:p.Ser1421Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTX9|Q9UL37	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1421C	ENST00000253159.8	37	c.4262	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661885	0.47572	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.12039	2.72;2.9	5.81	5.81	0.92471	.	0.692607	0.15075	N	0.281989	T	0.14184	0.0343	L	0.27053	0.805	0.09310	N	1	D	0.54047	0.964	B	0.43916	0.436	T	0.11690	-1.0577	10	0.66056	D	0.02	.	15.6012	0.76626	0.0:0.8631:0.1369:0.0	.	1421	Q9UL36	ZN236_HUMAN	C	1421	ENSP00000253159:S1421C;ENSP00000444524:S1421C	ENSP00000253159:S1421C	S	+	2	0	ZNF236	72768315	0.013000	0.17824	0.000000	0.03702	0.017000	0.09413	1.346000	0.33964	2.769000	0.95229	0.644000	0.83932	TCT	ZNF236	-	NULL		0.582	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	C			74639327	+1	no_errors	ENST00000253159	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF280D	54816	genome.wustl.edu	37	15	56996336	56996336	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:56996336G>A	ENST00000267807.7	-	4	374	c.158C>T	c.(157-159)tCa>tTa	p.S53L	ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559237.1_Missense_Mutation_p.S40L|ZNF280D_ENST00000558320.1_Missense_Mutation_p.S53L|ZNF280D_ENST00000559000.1_Missense_Mutation_p.S40L	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	53					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TGCTGGTTTTGAACTTGATAT	0.353																																																	0													145.0	122.0	130.0					15																	56996336		2192	4292	6484	SO:0001583	missense	54816			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.158C>T	15.37:g.56996336G>A	ENSP00000267807:p.Ser53Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S53L	ENST00000267807.7	37	c.158	CCDS32245.1	15	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755470	0.69648	.	.	ENSG00000137871	ENST00000267807;ENST00000455329	T	0.36340	1.26	4.52	4.52	0.55395	.	.	.	.	.	T	0.45236	0.1332	M	0.73598	2.24	0.80722	D	1	B;P;B	0.36712	0.089;0.566;0.255	B;B;B	0.39771	0.075;0.309;0.244	T	0.54675	-0.8258	9	0.72032	D	0.01	0.312	16.4057	0.83669	0.0:0.0:1.0:0.0	.	53;116;53	Q7Z6J5;B4DHL1;Q6N043	.;.;Z280D_HUMAN	L	53;40	ENSP00000267807:S53L	ENSP00000267807:S53L	S	-	2	0	ZNF280D	54783628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.521000	0.67086	2.333000	0.79357	0.650000	0.86243	TCA	ZNF280D	-	NULL		0.353	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF280D	HGNC	protein_coding	OTTHUMT00000418891.2	G	XM_370867		56996336	-1	no_errors	ENST00000267807	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF286B	729288	genome.wustl.edu	37	17	18565291	18565291	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:18565291G>C	ENST00000545289.1	-	5	1778	c.1528C>G	c.(1528-1530)Ctc>Gtc	p.L510V	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						TGTCTGATGAGAGATGAACTG	0.358																																																	0													34.0	35.0	35.0					17																	18565291		692	1578	2270	SO:0001583	missense	729288				CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1528C>G	17.37:g.18565291G>C	ENSP00000461413:p.Leu510Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L510V	ENST00000545289.1	37	c.1528	CCDS58523.1	17																																																																																			ZNF286B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF286B	HGNC	protein_coding		G	XM_001723047		18565291	-1	no_errors	ENST00000545289	ensembl	human	known	70_37	missense	SNP	0.960	C
ZNF302	55900	genome.wustl.edu	37	19	35176024	35176024	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:35176024G>A	ENST00000446502.2	+	6	1422	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K	ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000505242.1_Missense_Mutation_p.R361K|ZNF302_ENST00000457781.2_Missense_Mutation_p.R361K|ZNF302_ENST00000423823.2_Missense_Mutation_p.R361K			Q9NR11	ZN302_HUMAN	zinc finger protein 302	440					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CAACATCAAAGAATTCACAGT	0.368																																																	0													35.0	36.0	36.0					19																	35176024		2192	4291	6483	SO:0001583	missense	55900			AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.1214G>A	19.37:g.35176024G>A	ENSP00000396379:p.Arg405Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R361K	ENST00000446502.2	37	c.1082		19	.	.	.	.	.	.	.	.	.	.	G	5.852	0.341477	0.11069	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	0.967	-0.124	0.13523	.	.	.	.	.	T	0.10465	0.0256	N	0.21508	0.67	0.23150	N	0.99822	B;B	0.12630	0.002;0.006	B;B	0.22152	0.004;0.038	T	0.33701	-0.9858	9	0.41790	T	0.15	.	5.3727	0.16148	0.2223:0.0:0.7777:0.0	.	405;361	E7EVR1;Q9NR11-2	.;.	K	361;361;361;405	ENSP00000391067:R361K;ENSP00000421028:R361K;ENSP00000405219:R361K;ENSP00000396379:R405K	ENSP00000405219:R361K	R	+	2	0	ZNF302	39867864	0.001000	0.12720	0.893000	0.35052	0.267000	0.26476	0.542000	0.23222	-0.009000	0.14296	-0.444000	0.05651	AGA	ZNF302	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	ZNF302	HGNC	protein_coding	OTTHUMT00000372731.1	G			35176024	+1	no_errors	ENST00000423823	ensembl	human	known	70_37	missense	SNP	0.997	A
ZNF320	162967	genome.wustl.edu	37	19	53382788	53382788	+	3'UTR	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:53382788C>G	ENST00000595635.1	-	0	3092				ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_3'UTR|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		tgtaggatctcacatgatgca	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	162967			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.*1061G>C	19.37:g.53382788C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDR6	RNA	SNP	-	NULL	ENST00000595635.1	37	NULL	CCDS33095.1	19																																																																																			ZNF320	-	-		0.393	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF320	HGNC	protein_coding	OTTHUMT00000463771.1	C	NM_207333		53382788	-1	no_errors	ENST00000598199	ensembl	human	known	70_37	rna	SNP	0.001	G
ZNF321P	399669	genome.wustl.edu	37	19	53432341	53432341	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:53432341C>G	ENST00000391777.3	-	4	638	c.517G>C	c.(517-519)Gaa>Caa	p.E173Q	ZNF816_ENST00000549216.1_Missense_Mutation_p.E104Q|ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF816_ENST00000434371.2_Missense_Mutation_p.E173Q			Q8N8H1	ZN321_HUMAN	zinc finger protein 321, pseudogene	104										endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						ATTTTCCATTCAGGCTGAAAT	0.398																																																	0													139.0	143.0	142.0					19																	53432341		2203	4300	6503	SO:0001583	missense	399669			AK096828		19q13.4	2013-01-08	2011-04-19	2011-04-19	ENSG00000221874	ENSG00000221874			13827	pseudogene	pseudogene			"""zinc finger protein 321"""	ZNF321			Standard	NR_037805		Approved	MGC35402		Q8N8H1	OTTHUMG00000167760	ENST00000391777.3:c.517G>C	19.37:g.53432341C>G	ENSP00000375656:p.Glu173Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZB38|Q68DZ0|Q86SS5	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.E173Q	ENST00000391777.3	37	c.517	CCDS56101.1	19	.	.	.	.	.	.	.	.	.	.	c	4.768	0.142825	0.09083	.	.	ENSG00000180257;ENSG00000180257;ENSG00000221874	ENST00000549216;ENST00000434371;ENST00000391777	T;T;T	0.02472	4.28;5.58;5.58	1.78	-0.723	0.11181	.	.	.	.	.	T	0.03136	0.0092	L	0.49350	1.555	0.09310	N	1	B	0.34161	0.439	B	0.35727	0.209	T	0.42050	-0.9474	9	0.33940	T	0.23	.	4.2748	0.10804	0.0:0.595:0.0:0.405	.	104	Q8N8H1	ZN321_HUMAN	Q	104;173;173	ENSP00000449832:E104Q;ENSP00000438519:E173Q;ENSP00000375656:E173Q	ENSP00000375656:E173Q	E	-	1	0	ZNF321P;ZNF816	58124153	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.354000	0.07681	-0.261000	0.09405	-1.404000	0.01136	GAA	ZNF321P	-	NULL		0.398	ZNF321P-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ZNF321P	HGNC	protein_coding	OTTHUMT00000396130.1	C	NR_037805		53432341	-1	no_errors	ENST00000391777	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF33B	7582	genome.wustl.edu	37	10	43078391	43078391	+	RNA	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:43078391C>G	ENST00000486187.1	-	0	591							Q06732	ZN33B_HUMAN	zinc finger protein 33B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GATGTCTCTTCCACAGCACGC	0.507																																					Melanoma(137;1247 1767 16772 25727 43810)												0																																												7582			X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014		10.37:g.43078391C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q06731|Q32MA2|Q86XY8|Q8NDW3	RNA	SNP	-	NULL	ENST00000486187.1	37	NULL		10																																																																																			ZNF33B	-	-		0.507	ZNF33B-006	KNOWN	basic	processed_transcript	ZNF33B	HGNC	processed_transcript	OTTHUMT00000047683.1	C	NM_006955		43078391	-1	no_errors	ENST00000465206	ensembl	human	known	70_37	rna	SNP	0.000	G
ZNF382	84911	genome.wustl.edu	37	19	37101590	37101590	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:37101590G>A	ENST00000292928.2	+	4	291	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	ZNF382_ENST00000435416.1_Missense_Mutation_p.E60K|ZNF382_ENST00000423582.1_Missense_Mutation_p.E11K|ZNF382_ENST00000439428.1_Missense_Mutation_p.E59K	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.|Mediates interaction with TRIM28. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCGCAAGTTGGAACAAGGAGA	0.378																																																	0													122.0	114.0	116.0					19																	37101590		2203	4300	6503	SO:0001583	missense	84911			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.178G>A	19.37:g.37101590G>A	ENSP00000292928:p.Glu60Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E60K	ENST00000292928.2	37	c.178	CCDS33004.1	19	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232602	0.79688	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.15139	2.45;5.38;5.38;5.38	4.4	4.4	0.53042	Krueppel-associated box (3);	0.148823	0.31347	N	0.007815	T	0.36524	0.0970	M	0.83118	2.625	0.34388	D	0.693859	D;D;D	0.58268	0.982;0.982;0.97	P;P;P	0.54965	0.765;0.765;0.587	T	0.54944	-0.8217	10	0.59425	D	0.04	.	12.7748	0.57441	0.0:0.0:1.0:0.0	.	59;60;60	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	K	11;60;59;60	ENSP00000389722:E11K;ENSP00000292928:E60K;ENSP00000407593:E59K;ENSP00000410113:E60K	ENSP00000292928:E60K	E	+	1	0	ZNF382	41793430	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	2.942000	0.49018	2.728000	0.93425	0.563000	0.77884	GAA	ZNF382	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.378	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF382	HGNC	protein_coding	OTTHUMT00000109562.2	G	NM_032825		37101590	+1	no_errors	ENST00000292928	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF383	163087	genome.wustl.edu	37	19	37733787	37733787	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:37733787C>T	ENST00000589413.1	+	8	1232	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	ZNF383_ENST00000590503.1_Silent_p.L217L|ZNF383_ENST00000352998.3_Silent_p.L217L			Q8NA42	ZN383_HUMAN	zinc finger protein 383	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACTCGGCATCTGAAAATTCA	0.368																																																	0													61.0	64.0	63.0					19																	37733787		2203	4300	6503	SO:0001819	synonymous_variant	163087			AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.649C>T	19.37:g.37733787C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6X2C7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L217	ENST00000589413.1	37	c.649	CCDS12501.1	19																																																																																			ZNF383	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF383	HGNC	protein_coding	OTTHUMT00000458141.1	C	NM_152604		37733787	+1	no_errors	ENST00000352998	ensembl	human	known	70_37	silent	SNP	0.869	T
ZNF383	163087	genome.wustl.edu	37	19	37734033	37734033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:37734033C>T	ENST00000589413.1	+	8	1478	c.895C>T	c.(895-897)Cag>Tag	p.Q299*	ZNF383_ENST00000590503.1_Nonsense_Mutation_p.Q299*|ZNF383_ENST00000352998.3_Nonsense_Mutation_p.Q299*			Q8NA42	ZN383_HUMAN	zinc finger protein 383	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACAACTTTTTCAGCATGCACG	0.393																																																	0													63.0	62.0	62.0					19																	37734033		2203	4300	6503	SO:0001587	stop_gained	163087			AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.895C>T	19.37:g.37734033C>T	ENSP00000464871:p.Gln299*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6X2C7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q299*	ENST00000589413.1	37	c.895	CCDS12501.1	19	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509117	0.85282	.	.	ENSG00000188283	ENST00000352998	.	.	.	3.69	2.55	0.30701	.	0.000000	0.30771	N	0.008912	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	10.9186	0.47150	0.0:0.8073:0.1927:0.0	.	.	.	.	X	299	.	ENSP00000340132:Q299X	Q	+	1	0	ZNF383	42425873	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	-1.136000	0.03222	2.047000	0.60756	0.563000	0.77884	CAG	ZNF383	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF383	HGNC	protein_coding	OTTHUMT00000458141.1	C	NM_152604		37734033	+1	no_errors	ENST00000352998	ensembl	human	known	70_37	nonsense	SNP	0.041	T
ZNF347	84671	genome.wustl.edu	37	19	53644319	53644319	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:53644319G>A	ENST00000334197.7	-	5	1830	c.1762C>T	c.(1762-1764)Cgg>Tgg	p.R588W	ZNF347_ENST00000452676.2_Missense_Mutation_p.R589W|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R589W	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	588					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGAATTCCCCGATGTCTTGCA	0.408																																					Melanoma(64;205 1597 17324 45721)												0													126.0	121.0	123.0					19																	53644319		2203	4300	6503	SO:0001583	missense	84671			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1762C>T	19.37:g.53644319G>A	ENSP00000334146:p.Arg588Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R589W	ENST00000334197.7	37	c.1765	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670525	0.29693	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.07688	3.17;3.17	3.01	-2.53	0.06326	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05547	0.0146	L	0.45581	1.43	0.09310	N	1	B;B	0.31174	0.311;0.096	B;B	0.22601	0.04;0.02	T	0.35301	-0.9794	9	0.49607	T	0.09	.	0.7811	0.01041	0.2043:0.1402:0.2425:0.413	.	589;588	G5E9N4;Q96SE7	.;ZN347_HUMAN	W	588;589	ENSP00000334146:R588W;ENSP00000405218:R589W	ENSP00000334146:R588W	R	-	1	2	ZNF347	58336131	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.167000	0.09940	-0.526000	0.06383	-0.793000	0.03317	CGG	ZNF347	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1	G	NM_032584		53644319	-1	no_errors	ENST00000452676	ensembl	human	known	70_37	missense	SNP	0.003	A
ZNF394	84124	genome.wustl.edu	37	7	99096390	99096390	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:99096390C>T	ENST00000337673.6	-	2	735	c.532G>A	c.(532-534)Gac>Aac	p.D178N	ZNF394_ENST00000426306.2_Intron|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000394177.3_5'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	178	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTGCAGAAGTCCCTCCGTGCT	0.582																																					Ovarian(24;589 697 9939 12704 40742)												0													128.0	96.0	107.0					7																	99096390		2203	4300	6503	SO:0001583	missense	84124			BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.532G>A	7.37:g.99096390C>T	ENSP00000337363:p.Asp178Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.D178N	ENST00000337673.6	37	c.532	CCDS5666.1	7	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266561	0.40095	.	.	ENSG00000160908	ENST00000337673	T	0.01560	4.77	4.31	-2.23	0.06930	Krueppel-associated box (4);	1.269780	0.05533	N	0.564361	T	0.01124	0.0037	N	0.05574	-0.02	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.48364	-0.9042	10	0.36615	T	0.2	.	3.7368	0.08514	0.2667:0.3842:0.0:0.3492	.	178	Q53GI3	ZN394_HUMAN	N	178	ENSP00000337363:D178N	ENSP00000337363:D178N	D	-	1	0	ZNF394	98934326	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.082000	0.03400	-0.450000	0.07107	0.563000	0.77884	GAC	ZNF394	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.582	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF394	HGNC	protein_coding	OTTHUMT00000336498.1	C	NM_032164		99096390	-1	no_errors	ENST00000337673	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF397	84307	genome.wustl.edu	37	18	32823310	32823310	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:32823310G>C	ENST00000330501.7	+	3	709				ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000585800.1_Missense_Mutation_p.L203F|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000591206.1_Missense_Mutation_p.L203F	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397						transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						CTCTGTTTTTGAGAATGCAGA	0.423																																																	0																																										SO:0001627	intron_variant	84307			BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"""-"", ""Zinc fingers, C2H2-type"""	18818	protein-coding gene	gene with protein product		609601	"""zinc finger protein 47"""	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.556+53G>C	18.37:g.32823310G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BRM2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	p.L203F	ENST00000330501.7	37	c.609	CCDS45852.1	18																																																																																			ZNF397	-	NULL		0.423	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF397	HGNC	protein_coding	OTTHUMT00000442398.1	G	NM_032347		32823310	+1	no_errors	ENST00000585800	ensembl	human	known	70_37	missense	SNP	0.083	C
ZNF45	7596	genome.wustl.edu	37	19	44418649	44418649	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:44418649G>A	ENST00000269973.5	-	10	2029	c.939C>T	c.(937-939)ttC>ttT	p.F313F	ZNF45_ENST00000589703.1_Silent_p.F313F|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	313					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						AACGCCAACTGAAGCTCTTCC	0.468																																																	0													89.0	73.0	78.0					19																	44418649		2203	4300	6503	SO:0001819	synonymous_variant	7596			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.939C>T	19.37:g.44418649G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P17016|P78472|Q9P1U9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F313	ENST00000269973.5	37	c.939	CCDS12632.1	19																																																																																			ZNF45	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF45	HGNC	protein_coding	OTTHUMT00000459919.1	G	NM_003425		44418649	-1	no_errors	ENST00000269973	ensembl	human	known	70_37	silent	SNP	0.620	A
ZNF468	90333	genome.wustl.edu	37	19	53344528	53344528	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:53344528G>A	ENST00000595646.1	-	4	1139	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.S287L|ZNF468_ENST00000396409.4_Missense_Mutation_p.S287L			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TGCCAGATATGAATTATATGC	0.378																																																	0													123.0	127.0	126.0					19																	53344528		2203	4300	6503	SO:0001583	missense	90333			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1019C>T	19.37:g.53344528G>A	ENSP00000470381:p.Ser340Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S340L	ENST00000595646.1	37	c.1019	CCDS33094.1	19	.	.	.	.	.	.	.	.	.	.	-	11.20	1.569326	0.28003	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651;ENST00000393865	T;T	0.07908	3.15;3.15	1.99	0.819	0.18785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12220	0.0297	M	0.69523	2.12	0.09310	N	1	P	0.43477	0.808	B	0.41412	0.356	T	0.11743	-1.0575	9	0.66056	D	0.02	.	9.4286	0.38595	0.0:0.6282:0.3718:0.0	.	340	Q5VIY5	ZN468_HUMAN	L	340;287;287;90	ENSP00000379690:S287L;ENSP00000445669:S287L	ENSP00000243639:S340L	S	-	2	0	ZNF468	58036340	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.797000	0.04570	0.129000	0.18514	0.471000	0.43371	TCA	ZNF468	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF468	HGNC	protein_coding	OTTHUMT00000463098.1	G	NM_001008801		53344528	-1	no_errors	ENST00000595646	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF418	147686	genome.wustl.edu	37	19	58439073	58439073	+	Missense_Mutation	SNP	G	G	C	rs183050569		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:58439073G>C	ENST00000396147.1	-	4	767	c.476C>G	c.(475-477)tCt>tGt	p.S159C	ZNF418_ENST00000599852.1_Missense_Mutation_p.S74C|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000425570.3_Missense_Mutation_p.S180C|ZNF418_ENST00000595830.1_Missense_Mutation_p.S159C	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		AATGAAGATAGATGACTCCTC	0.478																																																	0													126.0	130.0	128.0					19																	58439073		2189	4294	6483	SO:0001583	missense	147686			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.476C>G	19.37:g.58439073G>C	ENSP00000379451:p.Ser159Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S159C	ENST00000396147.1	37	c.476	CCDS42642.1	19	.	.	.	.	.	.	.	.	.	.	.	11.99	1.804319	0.31869	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.08634	3.07;3.09	2.05	1.01	0.19927	.	.	.	.	.	T	0.11793	0.0287	L	0.28458	0.855	0.09310	N	1	D	0.69078	0.997	D	0.64506	0.926	T	0.21793	-1.0235	9	0.54805	T	0.06	.	1.6526	0.02775	0.5138:0.0:0.1944:0.2918	.	159	Q8TF45	ZN418_HUMAN	C	159;180;125	ENSP00000379451:S159C;ENSP00000407039:S180C	ENSP00000379451:S159C	S	-	2	0	ZNF418	63130885	0.000000	0.05858	0.001000	0.08648	0.165000	0.22458	-0.033000	0.12246	0.246000	0.21394	0.305000	0.20034	TCT	ZNF418	-	NULL		0.478	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF418	HGNC	protein_coding	OTTHUMT00000466693.1	G	NM_133460		58439073	-1	no_errors	ENST00000396147	ensembl	human	known	70_37	missense	SNP	0.001	C
ZNF469	84627	genome.wustl.edu	37	16	88499327	88499327	+	Missense_Mutation	SNP	C	C	G	rs559099409		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:88499327C>G	ENST00000437464.1	+	2	5365	c.5365C>G	c.(5365-5367)Ctg>Gtg	p.L1789V	ZNF469_ENST00000565624.1_Missense_Mutation_p.L1817V	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	1789					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						GGCTCCACCTCTGGATGCCAC	0.662													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16072	0.0		0.0	False		,,,				2504	0.0																0													13.0	12.0	13.0					16																	88499327		692	1589	2281	SO:0001583	missense	84627			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.5365C>G	16.37:g.88499327C>G	ENSP00000402343:p.Leu1789Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1789V	ENST00000437464.1	37	c.5365	CCDS45544.1	16	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543072	0.27563	.	.	ENSG00000225614	ENST00000437464	T	0.15017	2.46	3.21	3.21	0.36854	.	.	.	.	.	T	0.16171	0.0389	N	0.14661	0.345	0.21220	N	0.999751	D	0.71674	0.998	P	0.61003	0.882	T	0.12319	-1.0552	9	0.13470	T	0.59	.	6.4431	0.21861	0.0:0.8549:0.0:0.1451	.	1789	Q96JG9	ZN469_HUMAN	V	1789	ENSP00000402343:L1789V	ENSP00000402343:L1789V	L	+	1	2	ZNF469	87026828	0.002000	0.14202	0.043000	0.18650	0.113000	0.19764	-0.090000	0.11163	1.347000	0.45714	0.467000	0.42956	CTG	ZNF469	-	NULL		0.662	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding		C	NG_012236		88499327	+1	no_errors	ENST00000437464	ensembl	human	known	70_37	missense	SNP	0.741	G
ZNF470	388566	genome.wustl.edu	37	19	57088188	57088188	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:57088188G>C	ENST00000330619.8	+	6	1077	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	ZNF470_ENST00000391709.3_Missense_Mutation_p.E131Q|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CTATGACCTTGAATGTTCAAC	0.373																																																	0													73.0	75.0	74.0					19																	57088188		2203	4300	6503	SO:0001583	missense	388566			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.391G>C	19.37:g.57088188G>C	ENSP00000333223:p.Glu131Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E131Q	ENST00000330619.8	37	c.391	CCDS33122.1	19	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.432095	0.01108	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.06371	3.31;3.31	4.21	-2.53	0.06326	.	.	.	.	.	T	0.03220	0.0094	N	0.25890	0.77	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47674	-0.9099	9	0.17832	T	0.49	.	0.9566	0.01387	0.3881:0.1437:0.3036:0.1646	.	131	Q6ECI4	ZN470_HUMAN	Q	131	ENSP00000375590:E131Q;ENSP00000333223:E131Q	ENSP00000333223:E131Q	E	+	1	0	ZNF470	61780000	0.001000	0.12720	0.000000	0.03702	0.038000	0.13279	-0.070000	0.11523	-0.122000	0.11766	-0.203000	0.12734	GAA	ZNF470	-	NULL		0.373	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF470	HGNC	protein_coding	OTTHUMT00000459707.2	G	NM_001001668		57088188	+1	no_errors	ENST00000330619	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF483	158399	genome.wustl.edu	37	9	114304503	114304503	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:114304503G>A	ENST00000309235.5	+	6	1446	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AAATAAAGATGAGGGAAATGA	0.388																																																	0													65.0	72.0	70.0					9																	114304503		2203	4300	6503	SO:0001583	missense	158399			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1288G>A	9.37:g.114304503G>A	ENSP00000311679:p.Glu430Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VZN2|Q8NAE1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E430K	ENST00000309235.5	37	c.1288	CCDS35106.1	9	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658363	0.47467	.	.	ENSG00000173258	ENST00000309235	T	0.04706	3.57	4.54	-0.57	0.11753	.	0.664334	0.13587	N	0.376867	T	0.01627	0.0052	N	0.01631	-0.79	0.30465	N	0.773911	B	0.09022	0.002	B	0.15052	0.012	T	0.39375	-0.9617	10	0.33940	T	0.23	-6.6765	4.8071	0.13325	0.5006:0.1629:0.3365:0.0	.	430	Q8TF39	ZN483_HUMAN	K	430	ENSP00000311679:E430K	ENSP00000311679:E430K	E	+	1	0	ZNF483	113344324	0.000000	0.05858	0.003000	0.11579	0.089000	0.18198	-0.067000	0.11579	-0.073000	0.12842	-0.145000	0.13849	GAG	ZNF483	-	NULL		0.388	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	G	XM_088567		114304503	+1	no_errors	ENST00000309235	ensembl	human	known	70_37	missense	SNP	0.106	A
ZNF485	220992	genome.wustl.edu	37	10	44112470	44112470	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:44112470C>G	ENST00000361807.3	+	5	1173	c.979C>G	c.(979-981)Cac>Gac	p.H327D	ZNF485_ENST00000374435.3_Missense_Mutation_p.H327D|ZNF485_ENST00000374437.2_Missense_Mutation_p.H236D	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GAAACCCTATCACTGCAGTAA	0.418																																																	0													116.0	118.0	118.0					10																	44112470		2203	4300	6503	SO:0001583	missense	220992			AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.979C>G	10.37:g.44112470C>G	ENSP00000354694:p.His327Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DSE6|Q96CL0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H327D	ENST00000361807.3	37	c.979	CCDS7205.2	10	.	.	.	.	.	.	.	.	.	.	C	8.584	0.882921	0.17467	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.13089	2.62;2.62;2.62	2.18	0.239	0.15484	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	N	0.04373	-0.215	0.22401	N	0.999135	B	0.11235	0.004	B	0.10450	0.005	T	0.36311	-0.9753	9	0.51188	T	0.08	.	4.8329	0.13449	0.0:0.4995:0.0:0.5005	.	327	Q8NCK3	ZN485_HUMAN	D	327;236;327	ENSP00000354694:H327D;ENSP00000363560:H236D;ENSP00000363558:H327D	ENSP00000354694:H327D	H	+	1	0	ZNF485	43432476	0.000000	0.05858	0.171000	0.22900	0.973000	0.67179	-2.694000	0.00828	0.049000	0.15920	0.305000	0.20034	CAC	ZNF485	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF485	HGNC	protein_coding	OTTHUMT00000047719.2	C	NM_145312		44112470	+1	no_errors	ENST00000361807	ensembl	human	known	70_37	missense	SNP	0.709	G
ZNF524	147807	genome.wustl.edu	37	19	56113740	56113740	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:56113740G>C	ENST00000591046.1	+	1	496	c.262G>C	c.(262-264)Gat>Cat	p.D88H	FIZ1_ENST00000592585.1_5'Flank|FIZ1_ENST00000221665.3_5'Flank|ZNF524_ENST00000301073.3_Missense_Mutation_p.D88H			Q96C55	ZN524_HUMAN	zinc finger protein 524	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCTCCTGATCGATGATCAGGG	0.687																																																	0													15.0	15.0	15.0					19																	56113740		2181	4274	6455	SO:0001583	missense	147807			BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443		"""Zinc fingers, C2H2-type"""	28322	protein-coding gene	gene with protein product						12477932	Standard	NM_153219		Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.262G>C	19.37:g.56113740G>C	ENSP00000466907:p.Asp88His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NW31|Q96IL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D88H	ENST00000591046.1	37	c.262	CCDS12929.1	19	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604108	0.28534	.	.	ENSG00000171443	ENST00000301073	T	0.05996	3.36	3.19	3.19	0.36642	.	.	.	.	.	T	0.10337	0.0253	L	0.27053	0.805	0.35154	D	0.770063	D	0.89917	1.0	D	0.91635	0.999	T	0.02766	-1.1113	9	0.02654	T	1	.	11.7323	0.51744	0.0:0.0:1.0:0.0	.	88	Q96C55	ZN524_HUMAN	H	88	ENSP00000301073:D88H	ENSP00000301073:D88H	D	+	1	0	ZNF524	60805552	0.242000	0.23868	1.000000	0.80357	0.396000	0.30629	1.667000	0.37471	1.798000	0.52647	0.561000	0.74099	GAT	ZNF524	-	NULL		0.687	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF524	HGNC	protein_coding	OTTHUMT00000457938.1	G	NM_153219		56113740	+1	no_errors	ENST00000301073	ensembl	human	known	70_37	missense	SNP	0.996	C
ZNF536	9745	genome.wustl.edu	37	19	31039383	31039383	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:31039383G>C	ENST00000355537.3	+	4	3004	c.2857G>C	c.(2857-2859)Gat>Cat	p.D953H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	953					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.D953Y(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCACGGAGTGGATGGTGGTGA	0.542																																																	2	Substitution - Missense(2)	lung(2)											116.0	125.0	122.0					19																	31039383		2203	4300	6503	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2857G>C	19.37:g.31039383G>C	ENSP00000347730:p.Asp953His	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D953H	ENST00000355537.3	37	c.2857	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	3.493	-0.103529	0.06967	.	.	ENSG00000198597	ENST00000355537	T	0.10382	2.88	5.69	5.69	0.88448	.	0.204916	0.49916	D	0.000136	T	0.10078	0.0247	L	0.27053	0.805	0.27790	N	0.942847	P;P	0.37955	0.612;0.612	B;B	0.33690	0.168;0.168	T	0.09862	-1.0655	10	0.39692	T	0.17	-13.8036	19.7977	0.96492	0.0:0.0:1.0:0.0	.	953;953	A7E228;O15090	.;ZN536_HUMAN	H	953	ENSP00000347730:D953H	ENSP00000347730:D953H	D	+	1	0	ZNF536	35731223	1.000000	0.71417	0.234000	0.24042	0.760000	0.43138	4.601000	0.61090	2.692000	0.91855	0.491000	0.48974	GAT	ZNF536	-	NULL		0.542	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	G	NM_014717		31039383	+1	no_errors	ENST00000355537	ensembl	human	known	70_37	missense	SNP	0.638	C
ZNF530	348327	genome.wustl.edu	37	19	58117124	58117124	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:58117124G>A	ENST00000332854.6	+	3	451	c.231G>A	c.(229-231)caG>caA	p.Q77Q	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	77	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AACTGTCACAGGGCAGGACTC	0.483																																																	0													76.0	75.0	75.0					19																	58117124		2203	4300	6503	SO:0001819	synonymous_variant	348327			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.231G>A	19.37:g.58117124G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O43340|Q9P220	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q77	ENST00000332854.6	37	c.231	CCDS12955.1	19																																																																																			ZNF530	-	pfscan_Krueppel-associated_box		0.483	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF530	HGNC	protein_coding	OTTHUMT00000466797.1	G	NM_020880		58117124	+1	no_errors	ENST00000332854	ensembl	human	known	70_37	silent	SNP	0.013	A
ZNF568	374900	genome.wustl.edu	37	19	37441179	37441179	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:37441179C>T	ENST00000333987.7	+	7	1630	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.S311L	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCGAATGTCATCTGTTACG	0.368																																																	0													75.0	82.0	80.0					19																	37441179		2189	4292	6481	SO:0001583	missense	374900			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1124C>T	19.37:g.37441179C>T	ENSP00000334685:p.Ser375Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S375L	ENST00000333987.7	37	c.1124	CCDS42558.1	19	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877509	0.51801	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.36520	1.25;1.25	4.44	4.44	0.53790	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.295815	0.18636	N	0.135440	T	0.45013	0.1321	M	0.83953	2.67	0.21933	N	0.999463	P	0.45672	0.864	B	0.41332	0.354	T	0.51560	-0.8690	10	0.52906	T	0.07	.	14.9234	0.70856	0.0:1.0:0.0:0.0	.	375	Q3ZCX4	ZN568_HUMAN	L	375;311	ENSP00000334685:S375L;ENSP00000394514:S311L	ENSP00000334685:S375L	S	+	2	0	ZNF568	42133019	0.000000	0.05858	0.143000	0.22291	0.998000	0.95712	0.341000	0.19909	2.448000	0.82819	0.655000	0.94253	TCA	ZNF568	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000109572.2	C	NM_198539		37441179	+1	no_errors	ENST00000333987	ensembl	human	known	70_37	missense	SNP	0.014	T
ZNF607	84775	genome.wustl.edu	37	19	38189966	38189966	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:38189966G>C	ENST00000355202.4	-	5	1661	c.1066C>G	c.(1066-1068)Cat>Gat	p.H356D	ZNF607_ENST00000395835.3_Missense_Mutation_p.H355D|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TCAAATGTATGAGGTGCAGTA	0.408																																																	0													78.0	74.0	75.0					19																	38189966		2203	4300	6503	SO:0001583	missense	84775			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1066C>G	19.37:g.38189966G>C	ENSP00000347338:p.His356Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H356D	ENST00000355202.4	37	c.1066	CCDS33006.1	19	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300799	0.40694	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.05258	3.47;3.47	1.67	0.493	0.16878	.	.	.	.	.	T	0.15089	0.0364	L	0.43152	1.355	0.09310	N	1	P;D	0.89917	0.579;1.0	B;D	0.91635	0.097;0.999	T	0.11966	-1.0566	9	0.87932	D	0	.	8.5645	0.33531	0.0:0.2416:0.7584:0.0	.	356;355	Q96SK3;F5H141	ZN607_HUMAN;.	D	356;355	ENSP00000347338:H356D;ENSP00000438015:H355D	ENSP00000347338:H356D	H	-	1	0	ZNF607	42881806	0.000000	0.05858	0.002000	0.10522	0.570000	0.35934	-0.109000	0.10840	0.023000	0.15187	0.561000	0.74099	CAT	ZNF607	-	NULL		0.408	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2	G	NM_032689		38189966	-1	no_errors	ENST00000355202	ensembl	human	known	70_37	missense	SNP	0.042	C
ZNF577	84765	genome.wustl.edu	37	19	52376893	52376893	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:52376893G>C	ENST00000301399.5	-	7	715	c.350C>G	c.(349-351)tCa>tGa	p.S117*	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Intron|ZNF577_ENST00000451628.2_Intron|ZNF577_ENST00000485702.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ATGGAGGCATGATCTCCCATA	0.388																																																	0													85.0	79.0	81.0					19																	52376893		2203	4300	6503	SO:0001587	stop_gained	84765			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.350C>G	19.37:g.52376893G>C	ENSP00000301399:p.Ser117*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0B4|A8K6Z7|C9JFB9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S117*	ENST00000301399.5	37	c.350	CCDS12842.2	19	.	.	.	.	.	.	.	.	.	.	.	45	11.696850	0.99592	.	.	ENSG00000161551	ENST00000301399;ENST00000458390	.	.	.	2.53	0.334	0.15948	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	5.0653	0.14578	0.4346:0.0:0.5654:0.0	.	.	.	.	X	117	.	ENSP00000301399:S117X	S	-	2	0	ZNF577	57068705	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	0.420000	0.21263	0.147000	0.19030	0.467000	0.42956	TCA	ZNF577	-	NULL		0.388	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF577	HGNC	protein_coding	OTTHUMT00000347243.1	G	NM_032679		52376893	-1	no_errors	ENST00000301399	ensembl	human	known	70_37	nonsense	SNP	0.001	C
ZNF586	54807	genome.wustl.edu	37	19	58290557	58290557	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:58290557C>T	ENST00000396154.2	+	3	775	c.602C>T	c.(601-603)tCt>tTt	p.S201F	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396150.4_Silent_p.L159L|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000391702.3_Missense_Mutation_p.S158F|ZNF586_ENST00000599802.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAGTTCACTCTGGAGCAAAG	0.428																																																	0													102.0	105.0	104.0					19																	58290557		2162	4291	6453	SO:0001583	missense	54807			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.602C>T	19.37:g.58290557C>T	ENSP00000379458:p.Ser201Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S201F	ENST00000396154.2	37	c.602	CCDS42640.1	19	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044310	0.36085	.	.	ENSG00000083828	ENST00000449441;ENST00000391702;ENST00000396154	T;T	0.19806	2.12;2.12	1.56	0.429	0.16506	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36358	0.0964	.	.	.	0.23739	N	0.996974	D	0.64830	0.994	D	0.72982	0.979	T	0.15492	-1.0435	8	0.87932	D	0	.	3.3261	0.07067	0.2476:0.5879:0.0:0.1645	.	201	Q9NXT0	ZN586_HUMAN	F	201;158;201	ENSP00000375583:S158F;ENSP00000379458:S201F	ENSP00000375583:S158F	S	+	2	0	ZNF586	62982369	0.000000	0.05858	0.029000	0.17559	0.036000	0.12997	0.115000	0.15540	-0.002000	0.14469	-0.194000	0.12790	TCT	ZNF586	-	pfscan_Znf_C2H2		0.428	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF586	HGNC	protein_coding	OTTHUMT00000466825.2	C	NM_017652		58290557	+1	no_errors	ENST00000396154	ensembl	human	known	70_37	missense	SNP	0.984	T
ZNF544	27300	genome.wustl.edu	37	19	58772823	58772823	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:58772823C>G	ENST00000596652.1	+	6	1085	c.851C>G	c.(850-852)tCt>tGt	p.S284C	CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.S256C|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.S142C|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000269829.4_Missense_Mutation_p.S284C|ZNF544_ENST00000415203.2_Missense_Mutation_p.S256C|ZNF544_ENST00000600220.1_Missense_Mutation_p.S256C|ZNF544_ENST00000596929.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		CACAGTGTGTCTCTGAATGAA	0.418																																																	0													76.0	76.0	76.0					19																	58772823		2203	4300	6503	SO:0001583	missense	27300			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.851C>G	19.37:g.58772823C>G	ENSP00000469635:p.Ser284Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6J1|Q9UEX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S284C	ENST00000596652.1	37	c.851	CCDS12973.1	19	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092360	0.36952	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.16597	2.33;2.33	3.3	-1.6	0.08426	.	.	.	.	.	T	0.11750	0.0286	L	0.51914	1.62	0.09310	N	1	B;B;B	0.32939	0.033;0.07;0.391	B;B;B	0.24394	0.009;0.016;0.053	T	0.20806	-1.0264	9	0.41790	T	0.15	.	4.9309	0.13917	0.0:0.443:0.3362:0.2208	.	256;256;284	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	C	284;256	ENSP00000269829:S284C;ENSP00000394341:S256C	ENSP00000269829:S284C	S	+	2	0	ZNF544	63464635	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.589000	0.23939	-0.083000	0.12618	-0.175000	0.13238	TCT	ZNF544	-	NULL		0.418	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	HGNC	protein_coding	OTTHUMT00000466754.1	C	NM_014480		58772823	+1	no_errors	ENST00000269829	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF608	57507	genome.wustl.edu	37	5	123984271	123984271	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:123984271C>G	ENST00000306315.5	-	4	2241	c.1806G>C	c.(1804-1806)ttG>ttC	p.L602F	ZNF608_ENST00000504926.1_Missense_Mutation_p.L175F	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	602							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCACATTACTCAATCCTTCCT	0.532																																																	0													199.0	169.0	179.0					5																	123984271		2203	4300	6503	SO:0001583	missense	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1806G>C	5.37:g.123984271C>G	ENSP00000307746:p.Leu602Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	NULL	p.L602F	ENST00000306315.5	37	c.1806	CCDS34219.1	5	.	.	.	.	.	.	.	.	.	.	C	2.726	-0.265603	0.05754	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.49139	0.79;0.8	5.61	1.66	0.24008	.	0.402501	0.25258	N	0.031961	T	0.36413	0.0966	L	0.50333	1.59	0.21064	N	0.999799	B	0.30146	0.27	B	0.29716	0.106	T	0.26950	-1.0088	10	0.52906	T	0.07	-5.6413	5.0653	0.14578	0.0:0.4445:0.261:0.2945	.	602	Q9ULD9	ZN608_HUMAN	F	175;602;602;602	ENSP00000427657:L175F;ENSP00000307746:L602F	ENSP00000307746:L602F	L	-	3	2	ZNF608	124012170	0.919000	0.31177	0.286000	0.24833	0.256000	0.26092	-0.011000	0.12721	0.255000	0.21593	0.551000	0.68910	TTG	ZNF608	-	NULL		0.532	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	C	XM_114432		123984271	-1	no_errors	ENST00000306315	ensembl	human	known	70_37	missense	SNP	0.134	G
ZNF609	23060	genome.wustl.edu	37	15	64973556	64973556	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:64973556C>G	ENST00000326648.3	+	8	4339	c.4211C>G	c.(4210-4212)tCa>tGa	p.S1404*		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1404						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAACTCCCTCACTCTACCCA	0.473											OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													183.0	180.0	181.0					15																	64973556		2202	4299	6501	SO:0001587	stop_gained	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.4211C>G	15.37:g.64973556C>G	ENSP00000316527:p.Ser1404*	Somatic	1080	WXS	Illumina HiSeq	Phase_IV	Q0D2I2	Nonsense_Mutation	SNP	pfscan_Znf_C2H2	p.S1404*	ENST00000326648.3	37	c.4211	CCDS32270.1	15	.	.	.	.	.	.	.	.	.	.	C	43	9.879425	0.99286	.	.	ENSG00000180357	ENST00000326648	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.40796	D	0.983297	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-6.2009	19.2581	0.93955	0.0:1.0:0.0:0.0	.	.	.	.	X	1404	.	ENSP00000316527:S1404X	S	+	2	0	ZNF609	62760609	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	6.902000	0.75699	2.547000	0.85894	0.655000	0.94253	TCA	ZNF609	-	NULL		0.473	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	HGNC	protein_coding	OTTHUMT00000418130.1	C	XM_042833		64973556	+1	no_errors	ENST00000326648	ensembl	human	known	70_37	nonsense	SNP	1.000	G
ZNF613	79898	genome.wustl.edu	37	19	52443470	52443470	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:52443470G>A	ENST00000293471.6	+	4	703	c.24G>A	c.(22-24)ctG>ctA	p.L8L	ZNF613_ENST00000391794.4_5'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	8	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AGGAATCACTGACCCTGGAGG	0.443																																																	0													126.0	125.0	125.0					19																	52443470		2203	4300	6503	SO:0001819	synonymous_variant	79898			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.24G>A	19.37:g.52443470G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96SS9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L8	ENST00000293471.6	37	c.24	CCDS33089.1	19																																																																																			ZNF613	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.443	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2	G	NM_024840		52443470	+1	no_errors	ENST00000293471	ensembl	human	known	70_37	silent	SNP	0.308	A
ZNF615	284370	genome.wustl.edu	37	19	52498037	52498037	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:52498037G>C	ENST00000602063.1	-	6	641	c.292C>G	c.(292-294)Cag>Gag	p.Q98E	ZNF615_ENST00000598071.1_Missense_Mutation_p.Q109E|ZNF615_ENST00000391795.3_Missense_Mutation_p.Q103E|ZNF615_ENST00000594083.1_Missense_Mutation_p.Q109E|ZNF615_ENST00000376716.5_Missense_Mutation_p.Q98E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ACACTCTTCTGAATACTTTGA	0.358																																																	0													61.0	56.0	58.0					19																	52498037		2203	4299	6502	SO:0001583	missense	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.292C>G	19.37:g.52498037G>C	ENSP00000473089:p.Gln98Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q109E	ENST00000602063.1	37	c.325	CCDS12846.1	19	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246356	0.22796	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07114	3.25;3.22	3.31	-1.75	0.08031	.	.	.	.	.	T	0.02193	0.0068	N	0.01874	-0.695	0.09310	N	1	B;B;B;B	0.14012	0.005;0.009;0.009;0.005	B;B;B;B	0.11329	0.002;0.006;0.006;0.002	T	0.47005	-0.9150	9	0.13108	T	0.6	.	2.0917	0.03658	0.1209:0.3781:0.3085:0.1926	.	103;105;109;98	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	E	98;108;103;108	ENSP00000365906:Q98E;ENSP00000375672:Q103E	ENSP00000347019:Q108E	Q	-	1	0	ZNF615	57189849	0.000000	0.05858	0.000000	0.03702	0.420000	0.31355	-0.192000	0.09587	-0.103000	0.12175	0.655000	0.94253	CAG	ZNF615	-	NULL		0.358	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	HGNC	protein_coding	OTTHUMT00000462391.1	G	NM_198480		52498037	-1	no_errors	ENST00000594083	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF629	23361	genome.wustl.edu	37	16	30793806	30793806	+	Nonsense_Mutation	SNP	G	G	A	rs544777987		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30793806G>A	ENST00000262525.4	-	3	2050	c.1843C>T	c.(1843-1845)Cga>Tga	p.R615*	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	615					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CTTGGGGATCGTAACTGAGGA	0.612																																																	0													77.0	79.0	79.0					16																	30793806		1990	4154	6144	SO:0001587	stop_gained	23361			AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.1843C>T	16.37:g.30793806G>A	ENSP00000262525:p.Arg615*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15938	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R615*	ENST00000262525.4	37	c.1843	CCDS45463.1	16	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376177	0.82682	.	.	ENSG00000102870	ENST00000262525	.	.	.	5.36	3.38	0.38709	.	0.000000	0.39341	N	0.001390	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-21.8448	12.9994	0.58666	0.0:0.0:0.5584:0.4416	.	.	.	.	X	615	.	ENSP00000262525:R615X	R	-	1	2	ZNF629	30701307	0.003000	0.15002	0.017000	0.16124	0.454000	0.32378	0.774000	0.26675	0.794000	0.33899	0.561000	0.74099	CGA	ZNF629	-	NULL		0.612	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF629	HGNC	protein_coding	OTTHUMT00000434291.1	G	NM_015309		30793806	-1	no_errors	ENST00000262525	ensembl	human	known	70_37	nonsense	SNP	0.022	A
ZNF630	57232	genome.wustl.edu	37	X	47917923	47917923	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:47917923G>A	ENST00000409324.3	-	5	2134	c.1908C>T	c.(1906-1908)ttC>ttT	p.F636F	ZNF630_ENST00000276054.4_Silent_p.F512F|ZNF630_ENST00000442455.3_Silent_p.F622F|ZNF630-AS1_ENST00000436124.1_RNA	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	636					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CATGCTGGCAGAATGCCTTCC	0.443																																																	0													75.0	58.0	64.0					X																	47917923		2195	4288	6483	SO:0001819	synonymous_variant	57232			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1908C>T	X.37:g.47917923G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	F8WAG4|Q5H8Z5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F636	ENST00000409324.3	37	c.1908	CCDS35237.2	X																																																																																			ZNF630	-	smart_Znf_C2H2-like		0.443	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	HGNC	protein_coding	OTTHUMT00000327254.1	G	NM_001037735		47917923	-1	no_errors	ENST00000409324	ensembl	human	known	70_37	silent	SNP	0.631	A
ZNF638	27332	genome.wustl.edu	37	2	71658313	71658313	+	Intron	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:71658313G>C	ENST00000409544.1	+	26	6280				ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Intron|ZNF638_ENST00000409407.1_Intron	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638						regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAGAATCTTGGAGAATATTGT	0.313																																																	0																																										SO:0001627	intron_variant	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5651-144G>C	2.37:g.71658313G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	RNA	SNP	-	NULL	ENST00000409544.1	37	NULL	CCDS1917.1	2																																																																																			ZNF638	-	-		0.313	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	G	NM_014497		71658313	+1	no_errors	ENST00000488126	ensembl	human	known	70_37	rna	SNP	0.000	C
ZNF649	65251	genome.wustl.edu	37	19	52394042	52394042	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:52394042C>G	ENST00000354957.3	-	5	1631	c.1347G>C	c.(1345-1347)aaG>aaC	p.K449N	ZNF649_ENST00000600738.1_Missense_Mutation_p.K421N|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000412216.1_5'Flank|ZNF577_ENST00000420592.1_5'Flank|ZNF577_ENST00000451628.2_5'Flank|ZNF577_ENST00000301399.5_5'Flank|ZNF577_ENST00000485702.1_5'Flank	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		AGTGTATTCTCTTATGTTTAA	0.448																																																	0													192.0	186.0	188.0					19																	52394042		2203	4300	6503	SO:0001583	missense	65251			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1347G>C	19.37:g.52394042C>G	ENSP00000347043:p.Lys449Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K449N	ENST00000354957.3	37	c.1347	CCDS12843.1	19	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516517	0.44763	.	.	ENSG00000198093	ENST00000354957	T	0.07688	3.17	2.63	0.303	0.15791	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	L	0.39898	1.24	0.09310	N	1	D	0.54207	0.965	P	0.47864	0.559	T	0.26780	-1.0093	9	0.87932	D	0	.	2.7221	0.05204	0.2114:0.4002:0.0:0.3883	.	449	Q9BS31	ZN649_HUMAN	N	449	ENSP00000347043:K449N	ENSP00000347043:K449N	K	-	3	2	ZNF649	57085854	0.000000	0.05858	0.006000	0.13384	0.156000	0.22039	-0.505000	0.06367	0.314000	0.23086	0.404000	0.27445	AAG	ZNF649	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF649	HGNC	protein_coding	OTTHUMT00000461097.1	C	NM_023074		52394042	-1	no_errors	ENST00000354957	ensembl	human	known	70_37	missense	SNP	0.256	G
ZNF682	91120	genome.wustl.edu	37	19	20150174	20150174	+	5'UTR	SNP	C	C	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:20150174C>A	ENST00000397165.2	-	0	141				ZNF682_ENST00000596019.1_5'UTR|ZNF682_ENST00000595736.1_5'UTR|ZNF682_ENST00000397162.1_5'Flank|ZNF682_ENST00000593468.1_5'UTR|ZNF682_ENST00000599240.1_5'UTR|ZNF682_ENST00000358523.5_5'Flank	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TCCGGGATGTCGTGGAGTCTT	0.592																																																	0													47.0	50.0	49.0					19																	20150174		2174	4288	6462	SO:0001623	5_prime_UTR_variant	91120			AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.-20G>T	19.37:g.20150174C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KU64|E9PFJ5|Q96JV9	RNA	SNP	-	NULL	ENST00000397165.2	37	NULL	CCDS42533.1	19																																																																																			ZNF682	-	-		0.592	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF682	HGNC	protein_coding	OTTHUMT00000462888.1	C	NM_033196		20150174	-1	no_errors	ENST00000599240	ensembl	human	known	70_37	rna	SNP	0.002	A
ZNF665	79788	genome.wustl.edu	37	19	53669241	53669241	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:53669241C>G	ENST00000600412.1	-	2	422	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	ZNF665_ENST00000396424.3_Missense_Mutation_p.E168Q|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GGAGACTTCTCAACTTGATTG	0.368																																																	0													117.0	125.0	123.0					19																	53669241		2148	4278	6426	SO:0001583	missense	79788				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.307G>C	19.37:g.53669241C>G	ENSP00000469154:p.Glu103Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5T8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E168Q	ENST00000600412.1	37	c.502		19	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606626	0.28623	.	.	ENSG00000197497	ENST00000396424	T	0.09255	3.0	1.84	0.788	0.18601	.	.	.	.	.	T	0.11110	0.0271	L	0.48174	1.505	0.09310	N	1	P	0.38767	0.646	B	0.41571	0.36	T	0.25257	-1.0137	9	0.32370	T	0.25	.	7.7147	0.28698	0.0:0.8542:0.0:0.1458	.	168	Q9H7R5-2	.	Q	168	ENSP00000379702:E168Q	ENSP00000379702:E168Q	E	-	1	0	ZNF665	58361053	0.000000	0.05858	0.009000	0.14445	0.004000	0.04260	0.745000	0.26259	0.337000	0.23665	-0.324000	0.08512	GAG	ZNF665	-	NULL		0.368	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	ZNF665	HGNC	protein_coding	OTTHUMT00000464179.1	C	NM_024733		53669241	-1	no_errors	ENST00000396424	ensembl	human	known	70_37	missense	SNP	0.044	G
ZNF750	79755	genome.wustl.edu	37	17	80789562	80789563	+	Frame_Shift_Ins	INS	-	-	GTAGATGGGG			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:80789562_80789563insGTAGATGGGG	ENST00000269394.3	-	2	1601_1602	c.768_769insCCCCATCTAC	c.(766-771)tactcgfs	p.S257fs	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	257					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGTAAGGCGAGTAGATGGTGG	0.609																																																	0																																										SO:0001589	frameshift_variant	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.768_769insCCCCATCTAC	17.37:g.80789562_80789563insGTAGATGGGG	ENSP00000269394:p.Ser257fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H899	Frame_Shift_Ins	INS	NULL	p.S256fs	ENST00000269394.3	37	c.769_768	CCDS11819.1	17																																																																																			ZNF750	-	NULL		0.609	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	-	NM_024702		80789563	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	frame_shift_ins	INS	0.902:0.927	GTAGATGGGG
ZNF773	374928	genome.wustl.edu	37	19	58017749	58017749	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:58017749G>C	ENST00000282292.4	+	4	426	c.286G>C	c.(286-288)Gag>Cag	p.E96Q	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.E95Q|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	96					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AGCCAAGGCTGAGGCAGCTGC	0.478																																																	0													83.0	86.0	85.0					19																	58017749		2203	4300	6503	SO:0001583	missense	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.286G>C	19.37:g.58017749G>C	ENSP00000282292:p.Glu96Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96DL8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E96Q	ENST00000282292.4	37	c.286	CCDS33134.1	19	.	.	.	.	.	.	.	.	.	.	G	0.495	-0.873631	0.02570	.	.	ENSG00000152439	ENST00000282292	T	0.06608	3.28	1.25	-2.5	0.06384	.	.	.	.	.	T	0.07279	0.0184	L	0.46157	1.445	0.09310	N	1	P;B	0.46395	0.877;0.003	P;B	0.46049	0.502;0.001	T	0.15350	-1.0440	9	0.23302	T	0.38	.	8.0378	0.30504	0.4177:0.0:0.5823:0.0	.	95;96	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	Q	96	ENSP00000282292:E96Q	ENSP00000282292:E96Q	E	+	1	0	ZNF773	62709561	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.115000	0.15540	-1.678000	0.01454	-1.305000	0.01319	GAG	ZNF773	-	NULL		0.478	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF773	HGNC	protein_coding	OTTHUMT00000466475.1	G	NM_198542		58017749	+1	no_errors	ENST00000282292	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF778	197320	genome.wustl.edu	37	16	89293162	89293162	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:89293162G>A	ENST00000433976.2	+	6	714	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	ZNF778_ENST00000306502.6_Missense_Mutation_p.E86K|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AGCTTTCAGTGAACACTCAGG	0.483																																																	0													69.0	73.0	72.0					16																	89293162		2086	4248	6334	SO:0001583	missense	197320			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.382G>A	16.37:g.89293162G>A	ENSP00000405289:p.Glu128Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AG0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E128K	ENST00000433976.2	37	c.382	CCDS45550.1	16	.	.	.	.	.	.	.	.	.	.	G	8.126	0.781933	0.16189	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.52057	0.68;0.68	1.21	0.182	0.15077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.28034	0.0691	L	0.28400	0.85	0.09310	N	1	B;B	0.27166	0.17;0.023	B;B	0.15052	0.012;0.002	T	0.13926	-1.0491	9	0.32370	T	0.25	.	3.7923	0.08726	0.4745:0.0:0.5255:0.0	.	86;128	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	K	128;86	ENSP00000405289:E128K;ENSP00000305203:E86K	ENSP00000305203:E86K	E	+	1	0	ZNF778	87820663	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-7.470000	0.00035	0.085000	0.17107	0.460000	0.39030	GAA	ZNF778	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.483	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF778	HGNC	protein_coding	OTTHUMT00000430383.1	G	NM_182531		89293162	+1	no_errors	ENST00000433976	ensembl	human	known	70_37	missense	SNP	0.006	A
ZNF784	147808	genome.wustl.edu	37	19	56133131	56133131	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:56133131C>G	ENST00000325351.4	-	2	997	c.958G>C	c.(958-960)Gag>Cag	p.E320Q	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	320					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGGTCGGCCTCCACCTTCACC	0.716																																																	0													31.0	32.0	32.0					19																	56133131		2203	4300	6503	SO:0001583	missense	147808			AK074859	CCDS12930.1	19q13.42	2013-01-08			ENSG00000179922	ENSG00000179922		"""Zinc fingers, C2H2-type"""	33111	protein-coding gene	gene with protein product							Standard	NM_203374		Approved	MGC75238	uc002qll.1	Q8NCA9	OTTHUMG00000180860	ENST00000325351.4:c.958G>C	19.37:g.56133131C>G	ENSP00000320096:p.Glu320Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E320Q	ENST00000325351.4	37	c.958	CCDS12930.1	19	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867228	0.51588	.	.	ENSG00000179922	ENST00000325351	T	0.09350	2.99	3.53	2.48	0.30137	.	0.783524	0.10433	N	0.675251	T	0.07324	0.0185	N	0.24115	0.695	0.53005	D	0.999962	B	0.30482	0.281	B	0.21917	0.037	T	0.21042	-1.0257	10	0.72032	D	0.01	-0.379	7.4411	0.27183	0.0:0.8704:0.0:0.1296	.	320	Q8NCA9	ZN784_HUMAN	Q	320	ENSP00000320096:E320Q	ENSP00000320096:E320Q	E	-	1	0	ZNF784	60824943	0.000000	0.05858	0.006000	0.13384	0.568000	0.35870	0.361000	0.20267	0.789000	0.33779	0.313000	0.20887	GAG	ZNF784	-	NULL		0.716	ZNF784-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF784	HGNC	protein_coding	OTTHUMT00000453355.2	C	NM_203374		56133131	-1	no_errors	ENST00000325351	ensembl	human	known	70_37	missense	SNP	0.368	G
ZNF814	730051	genome.wustl.edu	37	19	58400325	58400325	+	5'UTR	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:58400325C>T	ENST00000435989.2	-	0	80				ZNF814_ENST00000595295.1_5'Flank|ZNF814_ENST00000600634.1_5'Flank|CTD-2583A14.9_ENST00000602124.1_3'UTR|ZNF814_ENST00000596604.1_5'Flank|ZNF814_ENST00000597807.1_5'UTR|ZNF814_ENST00000597832.1_5'UTR|ZNF814_ENST00000597342.1_5'UTR	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AACTGCTCCCCGACTTCTGGG	0.612																																																	0																																										SO:0001623	5_prime_UTR_variant	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.-155G>A	19.37:g.58400325C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF35	RNA	SNP	-	NULL	ENST00000435989.2	37	NULL	CCDS46212.1	19																																																																																			ZNF814	-	-		0.612	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	C	XM_001725708		58400325	-1	no_errors	ENST00000594629	ensembl	human	known	70_37	rna	SNP	0.002	T
ZNF8	7554	genome.wustl.edu	37	19	58805481	58805481	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:58805481G>C	ENST00000196548.5	+	4	438	c.307G>C	c.(307-309)Gaa>Caa	p.E103Q	ZNF8_ENST00000608843.1_Missense_Mutation_p.E103Q|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	103					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GCCTCGATCTGAAAGCCAAGC	0.542																																																	0													58.0	52.0	54.0					19																	58805481		2203	4300	6503	SO:0001583	missense	7554			M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.307G>C	19.37:g.58805481G>C	ENSP00000196548:p.Glu103Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PI99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E103Q	ENST00000196548.5	37	c.307	CCDS12974.1	19	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113818	0.37339	.	.	ENSG00000083842	ENST00000196548	T	0.07688	3.17	4.58	2.46	0.29980	.	0.139996	0.33290	N	0.005068	T	0.08802	0.0218	L	0.56769	1.78	0.09310	N	1	P	0.48162	0.906	B	0.41571	0.36	T	0.20840	-1.0263	10	0.36615	T	0.2	-7.9642	7.1151	0.25412	0.2037:0.0:0.7963:0.0	.	103	P17098	ZNF8_HUMAN	Q	103	ENSP00000196548:E103Q	ENSP00000196548:E103Q	E	+	1	0	ZNF8	63497293	0.000000	0.05858	0.008000	0.14137	0.001000	0.01503	-0.199000	0.09491	0.676000	0.31285	-0.142000	0.14014	GAA	ZNF8	-	NULL		0.542	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ZNF8	HGNC	protein_coding	OTTHUMT00000459135.1	G	NM_021089		58805481	+1	no_errors	ENST00000196548	ensembl	human	known	70_37	missense	SNP	0.004	C
ZNF830	91603	genome.wustl.edu	37	17	33289069	33289069	+	Missense_Mutation	SNP	G	G	C	rs527994591	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:33289069G>C	ENST00000361952.3	+	1	521	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	CCT6B_ENST00000436961.3_5'Flank|CCT6B_ENST00000314144.5_5'Flank|CCT6B_ENST00000421975.3_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	162					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				TTATGAAGATgaggaggagga	0.522																																																	0													54.0	58.0	57.0					17																	33289069		2203	4300	6503	SO:0001583	missense	91603			AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"""orphan maintenance of genome 1"""		"""coiled-coil domain containing 16"""	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.484G>C	17.37:g.33289069G>C	ENSP00000354518:p.Glu162Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96F60|Q96GZ5|Q9BU38	Missense_Mutation	SNP	smart_Znf_U1	p.E162Q	ENST00000361952.3	37	c.484	CCDS32618.1	17	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981411	0.74474	.	.	ENSG00000198783	ENST00000361952	T	0.15718	2.4	5.65	5.65	0.86999	.	0.252795	0.38272	N	0.001760	T	0.20129	0.0484	L	0.40543	1.245	0.80722	D	1	D	0.57899	0.981	P	0.46629	0.522	T	0.00152	-1.1984	10	0.45353	T	0.12	-7.8746	15.093	0.72211	0.0:0.0:1.0:0.0	.	162	Q96NB3	ZN830_HUMAN	Q	162	ENSP00000354518:E162Q	ENSP00000354518:E162Q	E	+	1	0	ZNF830	30313182	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	6.452000	0.73485	2.941000	0.99782	0.655000	0.94253	GAG	ZNF830	-	NULL		0.522	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF830	HGNC	protein_coding	OTTHUMT00000448018.1	G	NM_052857		33289069	+1	no_errors	ENST00000361952	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF836	162962	genome.wustl.edu	37	19	52658907	52658907	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:52658907G>C	ENST00000322146.8	-	5	2550	c.2029C>G	c.(2029-2031)Cag>Gag	p.Q677E	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.Q677E	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	677					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTTGAACGCTGAGTATAGGCT	0.403																																																	0													95.0	104.0	101.0					19																	52658907		2154	4278	6432	SO:0001583	missense	162962			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2029C>G	19.37:g.52658907G>C	ENSP00000325038:p.Gln677Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q677E	ENST00000322146.8	37	c.2029	CCDS46162.1	19	.	.	.	.	.	.	.	.	.	.	g	3.472	-0.107777	0.06924	.	.	ENSG00000196267	ENST00000322146	T	0.07216	3.21	2.09	-4.17	0.03857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	N	0.17872	0.535	0.09310	N	1	D	0.60160	0.987	P	0.48921	0.595	T	0.12760	-1.0535	9	0.29301	T	0.29	.	5.1309	0.14909	0.1333:0.1832:0.5691:0.1145	.	677	Q6ZNA1	ZN836_HUMAN	E	677	ENSP00000325038:Q677E	ENSP00000325038:Q677E	Q	-	1	0	ZNF836	57350719	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.248000	0.00541	-1.501000	0.01817	-0.494000	0.04653	CAG	ZNF836	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF836	HGNC	protein_coding	OTTHUMT00000462456.1	G	NM_001102657		52658907	-1	no_errors	ENST00000322146	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF91	7644	genome.wustl.edu	37	19	23544415	23544415	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:23544415G>A	ENST00000300619.7	-	4	1571	c.1366C>T	c.(1366-1368)Cat>Tat	p.H456Y	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H424Y	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	456					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TCTCTAGTATGAAATCTTTTA	0.363																																																	0													62.0	67.0	65.0					19																	23544415		2153	4278	6431	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1366C>T	19.37:g.23544415G>A	ENSP00000300619:p.His456Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5E1|B7Z6G6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H456Y	ENST00000300619.7	37	c.1366	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765235	0.31228	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.67523	-0.27;-0.27	1.76	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84247	0.5430	H	0.94462	3.54	0.35992	D	0.83675	D;D	0.76494	0.999;0.999	D;D	0.81914	0.991;0.995	D	0.88521	0.3096	9	0.87932	D	0	.	10.4786	0.44680	0.0:0.0:1.0:0.0	.	424;456	Q05481-2;Q05481	.;ZNF91_HUMAN	Y	456;424	ENSP00000300619:H456Y;ENSP00000380272:H424Y	ENSP00000300619:H456Y	H	-	1	0	ZNF91	23336255	1.000000	0.71417	0.004000	0.12327	0.002000	0.02628	4.782000	0.62396	0.951000	0.37770	0.297000	0.19635	CAT	ZNF91	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	G	NM_003430		23544415	-1	no_errors	ENST00000300619	ensembl	human	known	70_37	missense	SNP	0.994	A
ZNF841	284371	genome.wustl.edu	37	19	52569952	52569952	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:52569952G>A	ENST00000426391.2	-	5	1386	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	ZNF841_ENST00000359973.2_Missense_Mutation_p.H279Y|ZNF841_ENST00000389534.4_Missense_Mutation_p.H395Y|ZNF841_ENST00000594295.1_Missense_Mutation_p.H395Y|ZNF432_ENST00000598446.1_Intron|CTC-471J1.2_ENST00000569091.1_RNA			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TCTCCAGTATGAACTGTCTGA	0.398																																																	0													109.0	100.0	103.0					19																	52569952		692	1591	2283	SO:0001583	missense	284371			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.835C>T	19.37:g.52569952G>A	ENSP00000415453:p.His279Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H395Y	ENST00000426391.2	37	c.1183		19	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604087	0.87157	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.67523	-0.27;-0.27;-0.27	2.26	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83238	0.5211	M	0.89534	3.04	0.30767	N	0.743433	D;D;P	0.89917	0.962;1.0;0.776	D;D;P	0.85130	0.912;0.997;0.751	T	0.81395	-0.0952	9	0.87932	D	0	.	11.597	0.50979	0.0:0.0:1.0:0.0	.	395;279;279	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	Y	395;279;279	ENSP00000374185:H395Y;ENSP00000415453:H279Y;ENSP00000353060:H279Y	ENSP00000353060:H279Y	H	-	1	0	ZNF841	57261764	0.994000	0.37717	0.008000	0.14137	0.932000	0.56968	2.615000	0.46368	1.250000	0.43966	0.313000	0.20887	CAT	ZNF841	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF841-001	PUTATIVE	basic	protein_coding	ZNF841	HGNC	protein_coding	OTTHUMT00000462435.1	G	XM_209155		52569952	-1	no_errors	ENST00000389534	ensembl	human	known	70_37	missense	SNP	0.996	A
ZNF836	162962	genome.wustl.edu	37	19	52659714	52659714	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:52659714G>A	ENST00000322146.8	-	5	1743	c.1222C>T	c.(1222-1224)Cat>Tat	p.H408Y	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.H408Y	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTTCCACTATGAACTGTCTGA	0.418																																																	0													111.0	117.0	115.0					19																	52659714		2190	4297	6487	SO:0001583	missense	162962			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1222C>T	19.37:g.52659714G>A	ENSP00000325038:p.His408Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H408Y	ENST00000322146.8	37	c.1222	CCDS46162.1	19	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959467	0.53400	.	.	ENSG00000196267	ENST00000322146	T	0.67523	-0.27	1.74	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84138	0.5406	H	0.94385	3.53	0.26302	N	0.977952	D	0.71674	0.998	D	0.77557	0.99	T	0.71971	-0.4431	9	0.87932	D	0	.	8.5199	0.33268	0.0:0.0:1.0:0.0	.	408	Q6ZNA1	ZN836_HUMAN	Y	408	ENSP00000325038:H408Y	ENSP00000325038:H408Y	H	-	1	0	ZNF836	57351526	1.000000	0.71417	0.006000	0.13384	0.124000	0.20399	4.809000	0.62591	0.951000	0.37770	0.305000	0.20034	CAT	ZNF836	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF836	HGNC	protein_coding	OTTHUMT00000462456.1	G	NM_001102657		52659714	-1	no_errors	ENST00000322146	ensembl	human	known	70_37	missense	SNP	0.995	A
ZNF92	168374	genome.wustl.edu	37	7	64863490	64863490	+	Missense_Mutation	SNP	C	C	T	rs377733062		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:64863490C>T	ENST00000328747.7	+	4	662	c.463C>T	c.(463-465)Cat>Tat	p.H155Y	ZNF92_ENST00000450302.2_Missense_Mutation_p.H86Y|ZNF92_ENST00000431504.1_Missense_Mutation_p.H79Y|ZNF92_ENST00000357512.2_Missense_Mutation_p.H123Y	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	155					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				GAAAGTCTTTCATAAATTTCC	0.318																																																	0													49.0	52.0	51.0					7																	64863490		2203	4296	6499	SO:0001583	missense	168374			M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"""Zinc fingers, C2H2-type"", ""-"""	13168	protein-coding gene	gene with protein product		603974	"""zinc finger protein 92 (HTF12)"""			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.463C>T	7.37:g.64863490C>T	ENSP00000332595:p.His155Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNF9|Q8N492|Q8NB35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H155Y	ENST00000328747.7	37	c.463	CCDS34646.1	7	.	.	.	.	.	.	.	.	.	.	C	0.073	-1.198108	0.01594	.	.	ENSG00000146757	ENST00000328747;ENST00000431504;ENST00000357512;ENST00000450302	T;T;T;T	0.27557	2.49;1.66;1.66;1.66	0.427	-0.854	0.10705	.	.	.	.	.	T	0.21881	0.0527	L	0.50847	1.595	0.09310	N	1	B;B	0.16802	0.019;0.019	B;B	0.19666	0.014;0.026	T	0.35176	-0.9799	8	0.16896	T	0.51	.	.	.	.	.	123;155	Q03936-3;Q03936	.;ZNF92_HUMAN	Y	155;79;123;86	ENSP00000332595:H155Y;ENSP00000400495:H79Y;ENSP00000350113:H123Y;ENSP00000396126:H86Y	ENSP00000332595:H155Y	H	+	1	0	ZNF92	64500925	0.000000	0.05858	0.012000	0.15200	0.012000	0.07955	-0.866000	0.04245	-0.514000	0.06488	-0.518000	0.04402	CAT	ZNF92	-	NULL		0.318	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF92	HGNC	protein_coding	OTTHUMT00000344589.2	C	NM_152626		64863490	+1	no_errors	ENST00000328747	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNRD1-AS1	80862	genome.wustl.edu	37	6	30003625	30003625	+	RNA	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:30003625C>T	ENST00000376797.3	-	0	327				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000421692.1_RNA|ZNRD1-AS1_ENST00000437417.1_RNA|ZNRD1-AS1_ENST00000422224.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TTATATTTCTCTTTGTAAGTT	0.388																																																	0																																												80862			AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.30003625C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000376797.3	37	NULL		6																																																																																			ZNRD1-AS1	-	-		0.388	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	ZNRD1-AS1	HGNC	antisense	OTTHUMT00000253083.1	C	NR_026751		30003625	-1	no_errors	ENST00000421692	ensembl	human	known	70_37	rna	SNP	0.004	T
ZPBP2	124626	genome.wustl.edu	37	17	38028610	38028610	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:38028610G>C	ENST00000348931.4	+	5	685	c.494G>C	c.(493-495)aGa>aCa	p.R165T	ZPBP2_ENST00000584588.1_Intron|ZPBP2_ENST00000377940.3_Missense_Mutation_p.R143T	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	165					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTATTCTTTAGAGTGCTGAAG	0.358																																																	0													125.0	124.0	125.0					17																	38028610		2203	4299	6502	SO:0001583	missense	124626			BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.494G>C	17.37:g.38028610G>C	ENSP00000335384:p.Arg165Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	pfam_Sp38-bd,pfscan_Ig-like	p.R165T	ENST00000348931.4	37	c.494	CCDS11352.1	17	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266918	0.23136	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.55930	0.49;0.49	5.48	2.04	0.26737	.	0.372362	0.25657	N	0.029165	T	0.41971	0.1182	L	0.60455	1.87	0.26310	N	0.977834	B;B	0.17667	0.007;0.023	B;B	0.15052	0.005;0.012	T	0.42882	-0.9425	10	0.72032	D	0.01	-11.2037	2.8437	0.05537	0.325:0.2421:0.4329:0.0	.	143;165	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	T	165;143	ENSP00000335384:R165T;ENSP00000367174:R143T	ENSP00000335384:R165T	R	+	2	0	ZPBP2	35282136	0.586000	0.26782	0.998000	0.56505	0.832000	0.47134	1.305000	0.33493	0.664000	0.31047	0.460000	0.39030	AGA	ZPBP2	-	pfam_Sp38-bd		0.358	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZPBP2	HGNC	protein_coding	OTTHUMT00000256609.2	G	NM_198844		38028610	+1	no_errors	ENST00000348931	ensembl	human	known	70_37	missense	SNP	0.968	C
ZSCAN10	84891	genome.wustl.edu	37	16	3140190	3140190	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:3140190C>G	ENST00000252463.2	-	5	1167	c.1080G>C	c.(1078-1080)caG>caC	p.Q360H	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.Q278H|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.Q21H	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	360					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GGTGCGAGCTCTGGCGGAAGC	0.692																																																	0													32.0	40.0	37.0					16																	3140190		2140	4191	6331	SO:0001583	missense	84891			AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1080G>C	16.37:g.3140190C>G	ENSP00000252463:p.Gln360His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q360H	ENST00000252463.2	37	c.1080	CCDS10493.1	16	.	.	.	.	.	.	.	.	.	.	C	13.00	2.104948	0.37145	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.76578	-1.03	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000236	T	0.81616	0.4860	L	0.45228	1.405	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.80764	0.994;0.992;0.979	T	0.79090	-0.1946	10	0.33141	T	0.24	-40.882	10.2357	0.43282	0.0:0.9104:0.0:0.0896	.	21;293;360	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	H	293;360	ENSP00000252463:Q360H	ENSP00000252463:Q360H	Q	-	3	2	ZSCAN10	3080191	0.000000	0.05858	1.000000	0.80357	0.969000	0.65631	-0.411000	0.07142	2.561000	0.86390	0.563000	0.77884	CAG	ZSCAN10	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.692	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN10	HGNC	protein_coding	OTTHUMT00000437124.2	C	NM_032805		3140190	-1	no_errors	ENST00000252463	ensembl	human	known	70_37	missense	SNP	0.914	G
ZSCAN21	7589	genome.wustl.edu	37	7	99661584	99661584	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:99661584G>C	ENST00000292450.4	+	4	930	c.766G>C	c.(766-768)Gag>Cag	p.E256Q	ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E256Q|ZSCAN21_ENST00000477297.1_Intron|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E256Q	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	256					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCCTCTTCAAGAGGCAGGCTC	0.428																																																	0													89.0	86.0	87.0					7																	99661584		2203	4300	6503	SO:0001583	missense	7589			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.766G>C	7.37:g.99661584G>C	ENSP00000292450:p.Glu256Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E256Q	ENST00000292450.4	37	c.766	CCDS5681.1	7	.	.	.	.	.	.	.	.	.	.	G	1.715	-0.498101	0.04291	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000379635	T;T;T	0.07688	4.24;3.17;4.24	4.71	0.737	0.18314	.	0.372075	0.19723	N	0.107521	T	0.10252	0.0251	L	0.53671	1.685	0.09310	N	1	B;P	0.52316	0.037;0.952	B;P	0.50659	0.009;0.647	T	0.16778	-1.0391	10	0.44086	T	0.13	.	1.264	0.02007	0.1964:0.1748:0.4487:0.1801	.	256;256	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	Q	256;256;256;231	ENSP00000441212:E256Q;ENSP00000292450:E256Q;ENSP00000390960:E256Q	ENSP00000292450:E256Q	E	+	1	0	ZSCAN21	99499520	0.878000	0.30173	0.003000	0.11579	0.052000	0.14988	3.744000	0.55112	-0.042000	0.13535	0.655000	0.94253	GAG	ZSCAN21	-	NULL		0.428	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN21	HGNC	protein_coding	OTTHUMT00000336166.1	G	NM_145914		99661584	+1	no_errors	ENST00000292450	ensembl	human	known	70_37	missense	SNP	0.015	C
ZSCAN5C	649137	genome.wustl.edu	37	19	56720231	56720231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:56720231C>T	ENST00000534327.1	+	5	1302	c.1153C>T	c.(1153-1155)Cag>Tag	p.Q385*	ZSCAN5C_ENST00000376267.1_Nonsense_Mutation_p.Q385*			A6NGD5	ZSA5C_HUMAN	zinc finger and SCAN domain containing 5C	385					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|lung(6)|stomach(1)	8						GAGACTCTTTCAGTGTAATCT	0.557																																																	0																																										SO:0001587	stop_gained	649137					19q13.43	2013-01-08			ENSG00000204532	ENSG00000204532		"""-"", ""Zinc fingers, C2H2-type"""	34294	protein-coding gene	gene with protein product							Standard	NG_012782		Approved	ZNF495C		A6NGD5	OTTHUMG00000167475	ENST00000534327.1:c.1153C>T	19.37:g.56720231C>T	ENSP00000435234:p.Gln385*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q385*	ENST00000534327.1	37	c.1153		19	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974131	0.34848	.	.	ENSG00000204532	ENST00000534327;ENST00000376267	.	.	.	1.38	0.265	0.15612	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	4.1464	0.10217	0.6108:0.3892:0.0:0.0	.	.	.	.	X	385	.	ENSP00000365443:Q385X	Q	+	1	0	ZSCAN5C	61412043	0.000000	0.05858	0.008000	0.14137	0.023000	0.10783	-7.280000	0.00040	0.033000	0.15463	0.195000	0.17529	CAG	ZSCAN5C	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.557	ZSCAN5C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ZSCAN5C	HGNC	protein_coding	OTTHUMT00000394739.1	C	XM_001131980		56720231	+1	no_errors	ENST00000376267	ensembl	human	known	70_37	nonsense	SNP	0.076	T
ZSWIM5	57643	genome.wustl.edu	37	1	45524287	45524287	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:45524287C>G	ENST00000359600.5	-	4	1451	c.1246G>C	c.(1246-1248)Gag>Cag	p.E416Q		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	416						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TTACCTAGCTCATCCCAGAGC	0.498																																																	0													120.0	120.0	120.0					1																	45524287		2120	4266	6386	SO:0001583	missense	57643			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.1246G>C	1.37:g.45524287C>G	ENSP00000352614:p.Glu416Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SXQ9	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.E416Q	ENST00000359600.5	37	c.1246	CCDS41319.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345059	0.82022	.	.	ENSG00000162415	ENST00000359600	T	0.48522	0.81	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	L	0.45422	1.42	0.80722	D	1	B	0.32338	0.365	B	0.33890	0.172	T	0.25187	-1.0139	10	0.30854	T	0.27	-2.9733	20.1745	0.98175	0.0:1.0:0.0:0.0	.	416	Q9P217	ZSWM5_HUMAN	Q	416	ENSP00000352614:E416Q	ENSP00000352614:E416Q	E	-	1	0	ZSWIM5	45296874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GAG	ZSWIM5	-	NULL		0.498	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM5	HGNC	protein_coding	OTTHUMT00000024823.2	C	XM_046581		45524287	-1	no_errors	ENST00000359600	ensembl	human	known	70_37	missense	SNP	1.000	G
ZSWIM5	57643	genome.wustl.edu	37	1	45671717	45671717	+	Silent	SNP	G	G	A			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:45671717G>A	ENST00000359600.5	-	1	511	c.306C>T	c.(304-306)ttC>ttT	p.F102F	ZSWIM5_ENST00000464588.1_Intron	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	102						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CATTCCGCGGGAAGGACCAGT	0.716																																																	0													18.0	20.0	19.0					1																	45671717		1917	4108	6025	SO:0001819	synonymous_variant	57643			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.306C>T	1.37:g.45671717G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SXQ9	Silent	SNP	pfscan_Znf_SWIM	p.F102	ENST00000359600.5	37	c.306	CCDS41319.1	1																																																																																			ZSWIM5	-	NULL		0.716	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM5	HGNC	protein_coding	OTTHUMT00000024823.2	G	XM_046581		45671717	-1	no_errors	ENST00000359600	ensembl	human	known	70_37	silent	SNP	0.997	A
ZSWIM6	57688	genome.wustl.edu	37	5	60834734	60834734	+	Silent	SNP	C	C	T			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:60834734C>T	ENST00000252744.5	+	11	2475	c.2475C>T	c.(2473-2475)ttC>ttT	p.F825F		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	825					neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						CTCGCTGGTTCACTCTAAGCC	0.498																																																	0													157.0	140.0	145.0					5																	60834734		692	1591	2283	SO:0001819	synonymous_variant	57688			BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.2475C>T	5.37:g.60834734C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfscan_Znf_SWIM,prints_Antifreeze_1	p.F825	ENST00000252744.5	37	c.2475	CCDS47215.1	5																																																																																			ZSWIM6	-	NULL		0.498	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZSWIM6	HGNC	protein_coding	OTTHUMT00000368710.1	C	NM_020928		60834734	+1	no_errors	ENST00000252744	ensembl	human	known	70_37	silent	SNP	1.000	T
ZYG11A	440590	genome.wustl.edu	37	1	53323227	53323227	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:53323227G>C	ENST00000371528.1	+	3	962	c.814G>C	c.(814-816)Gac>Cac	p.D272H	ZYG11A_ENST00000371532.1_Intron	NM_001004339.2	NP_001004339.2	Q6WRX3	ZY11A_HUMAN	zyg-11 family member A, cell cycle regulator	272										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	10						ACTCAAATCAGACCTAGCTTT	0.413																																																	0													68.0	52.0	57.0					1																	53323227		692	1591	2283	SO:0001583	missense	440590				CCDS44148.1	1p32.3	2013-01-17	2012-12-10		ENSG00000203995	ENSG00000203995		"""ZYG11 cell cycle regulator family"""	32058	protein-coding gene	gene with protein product			"""zyg-11 homolog A (C. elegans)"""				Standard	NM_001004339		Approved	ZYG11	uc001cuk.2	Q6WRX3	OTTHUMG00000008923	ENST00000371528.1:c.814G>C	1.37:g.53323227G>C	ENSP00000360583:p.Asp272His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCK5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D272H	ENST00000371528.1	37	c.814	CCDS44148.1	1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863691	0.32884	.	.	ENSG00000203995	ENST00000371528	T	0.07908	3.15	5.35	4.44	0.53790	.	0.046947	0.85682	D	0.000000	T	0.10035	0.0246	L	0.55834	1.745	0.49915	D	0.999833	B	0.21452	0.056	B	0.23574	0.047	T	0.07328	-1.0778	10	0.36615	T	0.2	-8.1842	10.5242	0.44938	0.0722:0.1349:0.7929:0.0	.	272	Q6WRX3	ZY11A_HUMAN	H	272	ENSP00000360583:D272H	ENSP00000360583:D272H	D	+	1	0	ZYG11A	53095815	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	6.121000	0.71602	1.253000	0.44018	-0.257000	0.10917	GAC	ZYG11A	-	NULL		0.413	ZYG11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11A	HGNC	protein_coding	OTTHUMT00000024856.3	G	NM_001004339		53323227	+1	no_errors	ENST00000371528	ensembl	human	known	70_37	missense	SNP	1.000	C
ZZEF1	23140	genome.wustl.edu	37	17	3999949	3999949	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:3999949G>C	ENST00000381638.2	-	10	1842	c.1718C>G	c.(1717-1719)tCt>tGt	p.S573C	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	573							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGTTCCGGTAGAAAAAATAGT	0.353																																																	0													103.0	112.0	109.0					17																	3999949		2203	4300	6503	SO:0001583	missense	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1718C>G	17.37:g.3999949G>C	ENSP00000371051:p.Ser573Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.S573C	ENST00000381638.2	37	c.1718	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273814	0.80580	.	.	ENSG00000074755	ENST00000381638	T	0.25414	1.8	5.73	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	L	0.32530	0.975	0.58432	D	0.999992	D;D	0.89917	1.0;0.999	D;D	0.68943	0.961;0.916	T	0.36625	-0.9740	10	0.87932	D	0	-10.8092	16.2356	0.82371	0.0:0.1329:0.8671:0.0	.	573;573	O43149-3;O43149	.;ZZEF1_HUMAN	C	573	ENSP00000371051:S573C	ENSP00000371051:S573C	S	-	2	0	ZZEF1	3946698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.080000	0.76837	1.541000	0.49316	0.555000	0.69702	TCT	ZZEF1	-	NULL		0.353	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	G	NM_015113		3999949	-1	no_errors	ENST00000381638	ensembl	human	known	70_37	missense	SNP	1.000	C
